#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_ACHILLES_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_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SKI	6497	broad.mit.edu	37	1	2160515	2160515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:2160515G>C	ENST00000378536.4	+	1	382	c.310G>C	c.(310-312)Gta>Cta	p.V104L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	104					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTGCGAGACCGTACTGGAAGG	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)	Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(310-312)GTA>CTA		v-ski sarcoma viral oncogene homolog							29.0	29.0	29.0					1																	2160515		2196	4295	6491	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160515G>C	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.310G>C	1.37:g.2160515G>C	ENSP00000367797:p.Val104Leu						p.V104L	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	382	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		104					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.310G>C	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	4.611	0.113564	0.08831	.	.	ENSG00000157933	ENST00000378536	D	0.82526	-1.62	3.2	2.04	0.26737	DNA binding domain, putative (1);Transforming protein Ski (2);	0.181626	0.36628	U	0.002500	T	0.60418	0.2267	N	0.11560	0.145	0.37360	D	0.911178	B	0.06786	0.001	B	0.09377	0.004	T	0.53034	-0.8495	10	0.25751	T	0.34	-16.6508	3.1148	0.06371	0.5869:0.0:0.4131:0.0	.	104	P12755	SKI_HUMAN	L	104	ENSP00000367797:V104L	ENSP00000367797:V104L	V	+	1	0	SKI	2150375	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	2.246000	0.43142	1.327000	0.45338	0.393000	0.25936	GTA		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		5	10	0	0	0	0.000602	0	5	10				
ARHGEF16	27237	broad.mit.edu	37	1	3390072	3390072	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:3390072C>G	ENST00000378378.4	+	8	1696	c.1291C>G	c.(1291-1293)Ccc>Gcc	p.P431A	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P135A|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P143A|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P143A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	431	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GACCCGGCTGCCCCTCCTGAT	0.682																																							uc001akg.3		NA																	0				ovary(1)	1						c.(1291-1293)CCC>GCC		Rho guanine exchange factor 16							39.0	50.0	46.0					1																	3390072		2203	4297	6500	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3390072C>G	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1291C>G	1.37:g.3390072C>G	ENSP00000367629:p.Pro431Ala					ARHGEF16_uc001aki.2_Missense_Mutation_p.P143A|ARHGEF16_uc001akj.2_Missense_Mutation_p.P143A|ARHGEF16_uc009vli.1_Missense_Mutation_p.P135A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.P135A	p.P431A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	8	1539	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	431			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1291C>G	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612816	0.87258	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.18	4.18	0.49190	Dbl homology (DH) domain (5);	0.063724	0.64402	D	0.000005	T	0.67173	0.2865	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76669	-0.2874	10	0.72032	D	0.01	-37.4089	16.6563	0.85229	0.0:1.0:0.0:0.0	.	135;135;431	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	A	431;143;143;143;135;135	ENSP00000367629:P431A;ENSP00000367624:P143A;ENSP00000367622:P143A;ENSP00000411936:P143A;ENSP00000390853:P135A;ENSP00000408887:P135A	ENSP00000367622:P143A	P	+	1	0	ARHGEF16	3379932	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.514000	0.67043	2.162000	0.67917	0.484000	0.47621	CCC		0.682	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		23	49	0	0	0	0.00632	0	23	49				
GMEB1	10691	broad.mit.edu	37	1	29030804	29030804	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:29030804T>C	ENST00000294409.2	+	8	951	c.861T>C	c.(859-861)gtT>gtC	p.V287V	GMEB1_ENST00000373816.1_Silent_p.V277V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.V277V	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	287					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGGGAGTTCAGCAGCGGC	0.478																																							uc001bra.2		NA																	0					0						c.(859-861)GTT>GTC		glucocorticoid modulatory element binding							107.0	110.0	109.0					1																	29030804		2203	4300	6503	SO:0001819	synonymous_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29030804T>C	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.861T>C	1.37:g.29030804T>C						GMEB1_uc001bqz.2_Silent_p.V277V|GMEB1_uc001brb.2_Silent_p.V277V	p.V287V	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	8	999	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	287					B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	ENST00000294409.2	37	c.861T>C	CCDS327.1																																																																																				0.478	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		10	62	0	0	0	0.001368	0	10	62				
CSMD2	114784	broad.mit.edu	37	1	34276467	34276467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:34276467T>A	ENST00000338325.1	-	3	408		c.e3-2		CSMD2_ENST00000373381.4_Splice_Site			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				ACATGCGGGCTGCAGAGGAGA	0.532																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.e10-1		CUB and Sushi multiple domains 2							83.0	84.0	84.0					1																	34276467		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34276467T>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	ENST00000338325.1:c.5-2A>T	1.37:g.34276467T>A						CSMD2_uc001bxm.1_Splice_Site_p.A442_splice	p.A402_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			10	1234	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)						B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000338325.1	37	c.1205_splice		.	.	.	.	.	.	.	.	.	.	T	22.6	4.308262	0.81247	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3517	0.74393	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD2	34049054	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.955000	0.87856	2.220000	0.72140	0.482000	0.46254	.		0.532	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896	Intron	11	85	0	0	0	0.008291	0	11	85				
ZMYM4	9202	broad.mit.edu	37	1	35881308	35881308	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:35881308A>T	ENST00000314607.6	+	28	4382	c.4302A>T	c.(4300-4302)tcA>tcT	p.S1434S	ZMYM4_ENST00000373297.2_Silent_p.S1345S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1434					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCAGGAGTCAGAACCAGGTA	0.413																																							uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(4300-4302)TCA>TCT		zinc finger protein 262							77.0	68.0	71.0					1																	35881308		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35881308A>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4302A>T	1.37:g.35881308A>T						ZMYM4_uc009vuu.2_Silent_p.S1402S|ZMYM4_uc001byu.2_Silent_p.S1110S|ZMYM4_uc009vuv.2_Silent_p.S1173S	p.S1434S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			28	4382	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1434					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.4302A>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320603	0.23994	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.63	-2.7	0.06004	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0E-4	6.8912	0.24230	0.3892:0.3126:0.2982:0.0	.	.	.	.	X	1093	.	.	R	+	1	2	ZMYM4	35653895	0.993000	0.37304	0.850000	0.33497	0.984000	0.73092	0.416000	0.21198	-0.669000	0.05289	0.533000	0.62120	AGA		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		19	40	0	0	0	0.007413	0	19	40				
RHBDL2	54933	broad.mit.edu	37	1	39352280	39352280	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:39352280T>C	ENST00000289248.2	-	8	1816	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372990.1_Missense_Mutation_p.K270E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.K337E|RHBDL2_ENST00000372985.3_Missense_Mutation_p.K350E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGCAGTGCTTTATCAAAGCAG	0.418																																							uc001ccu.1		NA																	0					0						c.(808-810)AAA>GAA		rhomboid protease 2							126.0	119.0	121.0					1																	39352280		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39352280T>C	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.808A>G	1.37:g.39352280T>C	ENSP00000289248:p.Lys270Glu					RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc010oio.1_Missense_Mutation_p.K350E	p.K270E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		8	1036	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	270					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.808A>G	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946910	0.34377	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985	T;T;T;T	0.33216	1.46;1.46;1.42;1.42	6.03	0.601	0.17529	.	0.268227	0.40908	D	0.000984	T	0.19248	0.0462	L	0.31664	0.95	0.39952	D	0.974553	B;B	0.30406	0.278;0.044	B;B	0.24974	0.057;0.024	T	0.08186	-1.0734	10	0.17832	T	0.49	-9.4137	14.0824	0.64932	0.0:0.0:0.4978:0.5022	.	350;270	B7Z1Y9;Q9NX52	.;RHBL2_HUMAN	E	270;270;337;350	ENSP00000362081:K270E;ENSP00000289248:K270E;ENSP00000439227:K337E;ENSP00000362076:K350E	ENSP00000289248:K270E	K	-	1	0	RHBDL2	39124867	0.667000	0.27484	0.995000	0.50966	0.996000	0.88848	0.165000	0.16564	0.123000	0.18342	0.533000	0.62120	AAA		0.418	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		10	94	0	0	0	0.000978	0	10	94				
HIVEP3	59269	broad.mit.edu	37	1	42050182	42050182	+	Missense_Mutation	SNP	G	G	T	rs142189176		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:42050182G>T	ENST00000372583.1	-	4	1172	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P96Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P96Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P96Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	96					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGTGCTGCGGAAGCTGTGA	0.587																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(286-288)CCG>CAG		human immunodeficiency virus type I enhancer							166.0	175.0	172.0					1																	42050182		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050182G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.287C>A	1.37:g.42050182G>T	ENSP00000361664:p.Pro96Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.P96Q|HIVEP3_uc001cgy.2_RNA	p.P96Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	1500	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	96					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.287C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534682	0.27475	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	4.66	4.66	0.58398	.	0.136208	0.34110	N	0.004257	T	0.07007	0.0178	L	0.27053	0.805	0.34903	D	0.746737	P;P	0.42620	0.785;0.679	B;B	0.41723	0.365;0.2	T	0.14615	-1.0466	10	0.62326	D	0.03	-14.659	8.0466	0.30553	0.0:0.1716:0.6509:0.1775	.	96;96	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	96	ENSP00000361665:P96Q;ENSP00000361664:P96Q;ENSP00000247584:P96Q;ENSP00000410828:P96Q	ENSP00000247584:P96Q	P	-	2	0	HIVEP3	41822769	1.000000	0.71417	0.971000	0.41717	0.628000	0.37860	4.162000	0.58177	2.407000	0.81776	0.563000	0.77884	CCG		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		63	183	1	0	1.35869e-18	0.00361	2.15825e-18	63	183				
CCDC30	728621	broad.mit.edu	37	1	43002166	43002166	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:43002166A>G	ENST00000340612.4	+	1	11	c.11A>G	c.(10-12)gAa>gGa	p.E4G	CCDC30_ENST00000342022.4_Missense_Mutation_p.E4G|CCDC30_ENST00000428554.2_Missense_Mutation_p.E4G|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	4						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATGAGCCAAGAAAAAAATGAA	0.333																																							uc009vwk.1		NA																	0					0						c.(10-12)GAA>GGA		coiled-coil domain containing 30							52.0	52.0	52.0					1																	43002166		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43002166A>G	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.11A>G	1.37:g.43002166A>G	ENSP00000340378:p.Glu4Gly					CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E4G	p.E4G	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			2	121	+			4					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.11A>G	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800672	0.50315	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000445157;ENST00000342022	T;T;T	0.62498	0.02;0.02;0.02	5.57	5.57	0.84162	.	0.062764	0.64402	D	0.000016	T	0.72700	0.3493	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	D	0.66351	0.943	T	0.75233	-0.3390	10	0.72032	D	0.01	.	12.394	0.55374	1.0:0.0:0.0:0.0	.	4	Q5VVM6	CCD30_HUMAN	G	4	ENSP00000397035:E4G;ENSP00000340378:E4G;ENSP00000339280:E4G	ENSP00000340378:E4G	E	+	2	0	CCDC30	42774753	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.639000	0.61361	2.239000	0.73571	0.533000	0.62120	GAA		0.333	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		10	62	0	0	0	0.008291	0	10	62				
FAF1	11124	broad.mit.edu	37	1	51001120	51001120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:51001120G>A	ENST00000396153.2	-	15	1866	c.1415C>T	c.(1414-1416)aCa>aTa	p.T472I	FAF1_ENST00000545823.1_Missense_Mutation_p.T230I|FAF1_ENST00000371778.4_Missense_Mutation_p.T472I	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	472					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATCTACTGTTGTGTTCCC	0.328																																							uc009vyx.1		NA																	1	Whole gene deletion(1)		thyroid(1)	ovary(1)|pancreas(1)	2						c.(1414-1416)ACA>ATA		FAS-associated factor 1							137.0	131.0	133.0					1																	51001120		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51001120G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1415C>T	1.37:g.51001120G>A	ENSP00000379457:p.Thr472Ile					FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.T472I|FAF1_uc010onc.1_Missense_Mutation_p.T230I	p.T472I	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	16	1478	-			472					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1415C>T	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791116	0.70452	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	T;T;T	0.47528	0.84;0.84;0.84	5.52	5.52	0.82312	UAS (1);	0.097764	0.64402	D	0.000001	T	0.46190	0.1380	L	0.43923	1.385	0.80722	D	1	B;B	0.26002	0.139;0.067	B;B	0.28991	0.097;0.066	T	0.32693	-0.9897	10	0.39692	T	0.17	-0.2282	19.431	0.94765	0.0:0.0:1.0:0.0	.	230;472	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	I	472;472;230;312;320	ENSP00000379457:T472I;ENSP00000360843:T472I;ENSP00000438870:T230I	ENSP00000360843:T472I	T	-	2	0	FAF1	50773708	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.441000	0.97557	2.584000	0.87258	0.591000	0.81541	ACA		0.328	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		13	67	0	0	0	0.001368	0	13	67				
DMRTB1	63948	broad.mit.edu	37	1	53927203	53927203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:53927203C>A	ENST00000371445.3	+	2	690	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	212	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCTGGTGGCTCCAGCATGCAC	0.652																																							uc001cvq.1		NA																	0				ovary(1)|skin(1)	2						c.(634-636)TCC>TAC		DMRT-like family B with proline-rich C-terminal,							112.0	94.0	100.0					1																	53927203		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927203C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.635C>A	1.37:g.53927203C>A	ENSP00000360500:p.Ser212Tyr						p.S212Y	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			2	690	+			212			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.635C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.184	0.794501	0.16327	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	.	.	.	4.33	2.36	0.29203	.	4.933410	0.00357	N	0.000025	T	0.45438	0.1342	L	0.59436	1.845	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.15235	-1.0444	9	0.38643	T	0.18	-10.4591	4.6024	0.12359	0.2174:0.6658:0.0:0.1167	.	212	Q96MA1	DMRTB_HUMAN	Y	212;59	.	ENSP00000360500:S212Y	S	+	2	0	DMRTB1	53699791	0.001000	0.12720	0.002000	0.10522	0.200000	0.23975	1.010000	0.29898	0.521000	0.28445	0.655000	0.94253	TCC		0.652	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			16	120	1	0	1.15088e-07	0.004007	1.47328e-07	16	120				
CACHD1	57685	broad.mit.edu	37	1	65119459	65119459	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:65119459C>T	ENST00000371073.2	+	11	1559	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	CACHD1_ENST00000290039.5_Missense_Mutation_p.P469L|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	520	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTATGCACCCATCTCTTACC	0.338																																							uc001dbo.1		NA																	0				ovary(2)	2						c.(1405-1407)CCA>CTA		cache domain containing 1							205.0	195.0	199.0					1																	65119459		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65119459C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1559C>T	1.37:g.65119459C>T	ENSP00000360113:p.Pro520Leu					CACHD1_uc001dbp.1_Missense_Mutation_p.P224L|CACHD1_uc001dbq.1_Missense_Mutation_p.P224L	p.P469L	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			11	1511	+			520			Extracellular (Potential).|Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.576320	0.86645	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.39229	1.09;1.12	5.45	5.45	0.79879	Cache (1);	0.098435	0.64402	D	0.000001	T	0.67059	0.2853	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.71794	-0.4485	10	0.87932	D	0	-16.7362	19.4929	0.95059	0.0:1.0:0.0:0.0	.	520	Q5VU97	CAHD1_HUMAN	L	520;469	ENSP00000360113:P520L;ENSP00000290039:P469L	ENSP00000290039:P469L	P	+	2	0	CACHD1	64892047	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.320000	0.79064	2.835000	0.97688	0.650000	0.86243	CCA		0.338	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		13	212	0	0	0	0.001855	0	13	212				
CTH	1491	broad.mit.edu	37	1	70904452	70904452	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:70904452G>T	ENST00000370938.3	+	11	1278	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	CTH_ENST00000346806.2_Silent_p.V334V|CTH_ENST00000411986.2_Silent_p.V346V	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GACTTTCTGTGGGCTTAGAGG	0.428																																							uc001dfd.2		NA																	0				lung(1)	1						c.(1132-1134)GTG>GTT		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						162.0	150.0	154.0					1																	70904452		2203	4300	6503	SO:0001819	synonymous_variant	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70904452G>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1134G>T	1.37:g.70904452G>T						CTH_uc001dfe.2_Silent_p.V334V|CTH_uc010oqq.1_Silent_p.V346V	p.V378V	NM_001902	NP_001893	P32929	CGL_HUMAN			11	1278	+			378					O95791|Q9NX42	Silent	SNP	ENST00000370938.3	37	c.1134G>T	CCDS650.1																																																																																				0.428	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		30	89	1	0	1.62565e-12	0.002445	2.35719e-12	30	89				
ERICH3	127254	broad.mit.edu	37	1	75037302	75037302	+	Silent	SNP	C	C	T	rs4366277		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:75037302C>T	ENST00000326665.5	-	14	4310	c.4092G>A	c.(4090-4092)gaG>gaA	p.E1364E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1364	Glu-rich.									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						CCTCGGCTGTCTCCGAACCTG	0.517																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4090-4092)GAG>GAA		hypothetical protein LOC127254							157.0	161.0	160.0					1																	75037302		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037302C>T																												ENST00000326665.5:c.4092G>A	1.37:g.75037302C>T							p.E1364E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4311	-			1364			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4092G>A	CCDS30755.1																																																																																				0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			46	120	0	0	0	0.00361	0	46	120				
LPHN2	23266	broad.mit.edu	37	1	82417712	82417712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:82417712T>C	ENST00000370728.1	+	11	2313	c.1668T>C	c.(1666-1668)gcT>gcC	p.A556A	LPHN2_ENST00000370725.1_Silent_p.A556A|LPHN2_ENST00000370727.1_Silent_p.A556A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.A556A|LPHN2_ENST00000370717.2_Silent_p.A556A|LPHN2_ENST00000370713.1_Silent_p.A556A|LPHN2_ENST00000370730.1_Silent_p.A556A|LPHN2_ENST00000359929.3_Silent_p.A556A|LPHN2_ENST00000370715.1_Silent_p.A556A|LPHN2_ENST00000370721.1_Silent_p.A494A|LPHN2_ENST00000319517.6_Silent_p.A556A|LPHN2_ENST00000394879.1_Silent_p.A556A|LPHN2_ENST00000335786.5_Silent_p.A556A|LPHN2_ENST00000271029.4_Silent_p.A556A			O95490	LPHN2_HUMAN	latrophilin 2	556					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGTGTTTGCTGGGGATGTAA	0.428																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1666-1668)GCT>GCC		latrophilin 2 precursor							130.0	110.0	117.0					1																	82417712		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417712T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1668T>C	1.37:g.82417712T>C						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.A556A|LPHN2_uc001div.2_Silent_p.A556A|LPHN2_uc009wcd.2_Silent_p.A556A|LPHN2_uc001diw.2_Silent_p.A127A	p.A556A	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	1849	+			556			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.1668T>C		.	.	.	.	.	.	.	.	.	.	T	7.319	0.616533	0.14129	.	.	ENSG00000117114	ENST00000449420	.	.	.	6.07	1.08	0.20341	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	.	7.3352	0.26605	0.1263:0.1307:0.0:0.743	.	.	.	.	P	424	.	.	L	+	2	0	LPHN2	82190300	0.977000	0.34250	0.998000	0.56505	0.998000	0.95712	0.104000	0.15313	-0.071000	0.12886	0.533000	0.62120	CTG		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		12	74	0	0	0	0.001368	0	12	74				
LPHN2	23266	broad.mit.edu	37	1	82421638	82421638	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:82421638A>G	ENST00000370728.1	+	13	2544	c.1899A>G	c.(1897-1899)caA>caG	p.Q633Q	LPHN2_ENST00000370725.1_Silent_p.Q633Q|LPHN2_ENST00000370727.1_Silent_p.Q633Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.Q620Q|LPHN2_ENST00000370717.2_Silent_p.Q633Q|LPHN2_ENST00000370713.1_Silent_p.Q620Q|LPHN2_ENST00000370730.1_Silent_p.Q633Q|LPHN2_ENST00000359929.3_Silent_p.Q620Q|LPHN2_ENST00000370715.1_Silent_p.Q620Q|LPHN2_ENST00000370721.1_Silent_p.Q558Q|LPHN2_ENST00000319517.6_Silent_p.Q620Q|LPHN2_ENST00000394879.1_Silent_p.Q620Q|LPHN2_ENST00000335786.5_Silent_p.Q633Q|LPHN2_ENST00000271029.4_Silent_p.Q633Q			O95490	LPHN2_HUMAN	latrophilin 2	633					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCTGAACAAGCACATACTG	0.403																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1858-1860)CAA>CAG		latrophilin 2 precursor							131.0	123.0	126.0					1																	82421638		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421638A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1899A>G	1.37:g.82421638A>G						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.Q620Q|LPHN2_uc001div.2_Silent_p.Q620Q|LPHN2_uc009wcd.2_Silent_p.Q620Q|LPHN2_uc001diw.2_Silent_p.Q204Q	p.Q620Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	10	2041	+			633			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.1860A>G		.	.	.	.	.	.	.	.	.	.	A	9.208	1.030312	0.19512	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.47	1.46	0.22682	.	.	.	.	.	T	0.44644	0.1303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37314	-0.9711	4	.	.	.	.	9.9126	0.41415	0.7633:0.0:0.2367:0.0	.	.	.	.	R	501	.	.	K	+	2	0	LPHN2	82194226	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.046000	0.30354	0.383000	0.24910	0.383000	0.25322	AAG		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		17	99	0	0	0	0.006122	0	17	99				
WDR63	126820	broad.mit.edu	37	1	85592345	85592345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:85592345C>A	ENST00000294664.6	+	20	2444	c.2264C>A	c.(2263-2265)tCt>tAt	p.S755Y	WDR63_ENST00000370596.1_Missense_Mutation_p.S716Y|WDR63_ENST00000326813.8_Missense_Mutation_p.S716Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	755										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAGCCCAGTCTCAAAACATT	0.433																																							uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2263-2265)TCT>TAT		WD repeat domain 63							92.0	89.0	90.0					1																	85592345		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85592345C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2264C>A	1.37:g.85592345C>A	ENSP00000294664:p.Ser755Tyr					WDR63_uc009wcl.2_Missense_Mutation_p.S716Y	p.S755Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2455	+			755					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2264C>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629543	0.46944	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.424836	0.25081	N	0.033299	T	0.41213	0.1149	M	0.77820	2.39	0.31818	N	0.626348	D;P	0.52996	0.957;0.929	P;B	0.50082	0.63;0.344	T	0.44636	-0.9315	10	0.41790	T	0.15	-10.7618	12.6108	0.56549	0.0:0.9123:0.0:0.0877	.	716;755	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Y	716;716;755;37	ENSP00000359628:S716Y;ENSP00000317463:S716Y;ENSP00000294664:S755Y;ENSP00000435544:S37Y	ENSP00000294664:S755Y	S	+	2	0	WDR63	85364933	0.422000	0.25473	0.800000	0.32199	0.628000	0.37860	3.126000	0.50477	2.496000	0.84212	0.557000	0.71058	TCT		0.433	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		17	91	1	0	3.32936e-07	0.006122	4.19088e-07	17	91				
TGFBR3	7049	broad.mit.edu	37	1	92200438	92200438	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92200438G>T	ENST00000525962.1	-	4	524	c.463C>A	c.(463-465)Cat>Aat	p.H155N	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H155N|TGFBR3_ENST00000212355.4_Missense_Mutation_p.H155N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	155					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCATTTCCATGGGGGAAGTTC	0.418																																							uc001doh.2		NA																	0				ovary(3)	3						c.(463-465)CAT>AAT		transforming growth factor, beta receptor III							165.0	166.0	166.0					1																	92200438		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200438G>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.463C>A	1.37:g.92200438G>T	ENSP00000436127:p.His155Asn					TGFBR3_uc009wde.2_5'UTR|TGFBR3_uc010osy.1_Missense_Mutation_p.H113N|TGFBR3_uc001doi.2_Missense_Mutation_p.H155N|TGFBR3_uc001doj.2_Missense_Mutation_p.H155N	p.H155N	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	929	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	155			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.463C>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773460	0.49786	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.88	4.02	0.46733	.	0.527975	0.24573	N	0.037377	T	0.12263	0.0298	L	0.50333	1.59	0.30124	N	0.805387	B;P	0.45348	0.435;0.856	B;B	0.38921	0.116;0.285	T	0.04509	-1.0946	10	0.44086	T	0.13	-1.2108	9.2748	0.37692	0.1364:0.1279:0.7357:0.0	.	155;155	Q03167-2;Q03167	.;TGBR3_HUMAN	N	155	ENSP00000212355:H155N;ENSP00000359426:H155N;ENSP00000436127:H155N;ENSP00000432638:H155N	ENSP00000212355:H155N	H	-	1	0	TGFBR3	91973026	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.553000	0.53713	0.834000	0.34852	0.644000	0.83932	CAT		0.418	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		52	202	1	0	9.22156e-22	0.00361	1.52814e-21	52	202				
TGFBR3	7049	broad.mit.edu	37	1	92224265	92224265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92224265G>T	ENST00000525962.1	-	3	350	c.289C>A	c.(289-291)Cac>Aac	p.H97N	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H97N|TGFBR3_ENST00000212355.4_Missense_Mutation_p.H97N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	97					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGACTTGTGGTGGATGTGG	0.507																																							uc001doh.2		NA																	0				ovary(3)	3						c.(289-291)CAC>AAC		transforming growth factor, beta receptor III							158.0	137.0	144.0					1																	92224265		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92224265G>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.289C>A	1.37:g.92224265G>T	ENSP00000436127:p.His97Asn					TGFBR3_uc009wde.2_5'UTR|TGFBR3_uc010osy.1_Missense_Mutation_p.H55N|TGFBR3_uc001doi.2_Missense_Mutation_p.H97N|TGFBR3_uc001doj.2_Missense_Mutation_p.H97N	p.H97N	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	4	755	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	97			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.289C>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620427	0.46736	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.5	3.6	0.41247	.	0.211193	0.51477	D	0.000100	T	0.12732	0.0309	L	0.44542	1.39	0.34820	D	0.738616	B;B	0.33413	0.302;0.411	B;B	0.33620	0.167;0.076	T	0.03981	-1.0987	10	0.45353	T	0.12	-5.4501	10.3396	0.43870	0.0699:0.0:0.7949:0.1352	.	97;97	Q03167-2;Q03167	.;TGBR3_HUMAN	N	97	ENSP00000212355:H97N;ENSP00000359426:H97N;ENSP00000436127:H97N;ENSP00000432638:H97N	ENSP00000212355:H97N	H	-	1	0	TGFBR3	91996853	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.730000	0.38125	0.671000	0.31185	0.561000	0.74099	CAC		0.507	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		13	128	1	0	7.03913e-09	0.001368	9.36067e-09	13	128				
GLMN	11146	broad.mit.edu	37	1	92712203	92712203	+	Splice_Site	SNP	C	C	A	rs112947595		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92712203C>A	ENST00000370360.3	-	19	1750	c.1669G>T	c.(1669-1671)Gtc>Ttc	p.V557F	GLMN_ENST00000534881.1_Splice_Site_p.V543F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	557					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GAATGCAGGACCTGCAATGCC	0.348									Multiple Glomus Tumors (of the Skin), Familial																														uc001dor.2		NA																	0				skin(1)	1						c.(1669-1671)GTC>TTC		glomulin							64.0	60.0	61.0					1																	92712203		2203	4299	6502	SO:0001630	splice_region_variant	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92712203C>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1669-1G>T	1.37:g.92712203C>A						GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.V543F	p.V557F	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	19	1784	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	557					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1669G>T	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595605	0.86953	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.52754	0.65;0.65	5.93	5.93	0.95920	.	0.169990	0.52532	D	0.000074	T	0.64800	0.2631	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.975	T	0.65582	-0.6133	10	0.87932	D	0	-9.0978	20.3507	0.98813	0.0:1.0:0.0:0.0	.	543;557	B4DJ85;Q92990	.;GLMN_HUMAN	F	557;543	ENSP00000359385:V557F;ENSP00000440156:V543F	ENSP00000359385:V557F	V	-	1	0	GLMN	92484791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.153000	0.71819	2.808000	0.96608	0.655000	0.94253	GTC		0.348	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070	Missense_Mutation	3	40	1	0	0.004672	0.004672	0.00490625	3	40				
GFI1	2672	broad.mit.edu	37	1	92948935	92948935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92948935C>G	ENST00000370332.1	-	2	428	c.110G>C	c.(109-111)cGa>cCa	p.R37P	GFI1_ENST00000427103.1_Missense_Mutation_p.R37P|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.R37P	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	37					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CGCACCTGCTCGGCTAGGCGC	0.647																																							uc001dou.3		NA																	0				large_intestine(1)	1						c.(109-111)CGA>CCA		growth factor independent 1							26.0	25.0	26.0					1																	92948935		2203	4300	6503	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92948935C>G	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.110G>C	1.37:g.92948935C>G	ENSP00000359357:p.Arg37Pro					GFI1_uc001dov.3_Missense_Mutation_p.R37P|GFI1_uc001dow.3_Missense_Mutation_p.R37P	p.R37P	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	2	274	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	37					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.110G>C	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383673	0.25031	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.08896	3.04;3.04;3.04	5.27	3.4	0.38934	.	0.563688	0.18395	N	0.142539	T	0.02119	0.0066	L	0.36672	1.1	0.30241	N	0.795025	B	0.02656	0.0	B	0.04013	0.001	T	0.41215	-0.9521	10	0.31617	T	0.26	0.1186	6.4746	0.22028	0.0:0.6837:0.1508:0.1655	.	37	Q99684	GFI1_HUMAN	P	37	ENSP00000359357:R37P;ENSP00000399719:R37P;ENSP00000294702:R37P	ENSP00000294702:R37P	R	-	2	0	GFI1	92721523	0.995000	0.38212	1.000000	0.80357	0.575000	0.36095	1.864000	0.39469	1.218000	0.43458	-0.254000	0.11334	CGA		0.647	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		7	21	0	0	0	0.004482	0	7	21				
ABCA4	24	broad.mit.edu	37	1	94502755	94502755	+	Silent	SNP	C	C	A	rs147884766	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:94502755C>A	ENST00000370225.3	-	25	3845	c.3759G>T	c.(3757-3759)acG>acT	p.T1253T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1253			T -> M (in FFM; unknown pathological significance). {ECO:0000269|PubMed:11385708}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCAGCCAGCGTCTCCTCCA	0.483																																							uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3757-3759)ACG>ACT		ATP-binding cassette, sub-family A member 4							106.0	108.0	107.0					1																	94502755		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502755C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3759G>T	1.37:g.94502755C>A							p.T1253T	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	25	3863	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1253		T -> M (in FFM; could be a rare polymorphism).	Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3759G>T	CCDS747.1																																																																																				0.483	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		21	105	1	0	3.62473e-10	0.001882	4.96016e-10	21	105				
SNX7	51375	broad.mit.edu	37	1	99161072	99161072	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99161072A>T	ENST00000306121.3	+	5	648		c.e5-1		SNX7_ENST00000529992.1_Splice_Site|SNX7_ENST00000370189.5_Splice_Site	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7						apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTTTGTTTCTAGGAACTCTCT	0.393																																							uc010ouc.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.e5-2		sorting nexin 7 isoform a							49.0	55.0	53.0					1																	99161072		2203	4300	6503	SO:0001630	splice_region_variant	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161072A>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.640-1A>T	1.37:g.99161072A>T						SNX7_uc001dsa.2_Splice_Site_p.E150_splice|SNX7_uc010oud.1_Splice_Site_p.E159_splice	p.E214_splice	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	5	692	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)						A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Splice_Site	SNP	ENST00000306121.3	37	c.640_splice	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050202	0.75846	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	.	.	.	5.66	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.561	0.50776	0.9301:0.0:0.0699:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX7	98933660	1.000000	0.71417	0.990000	0.47175	0.913000	0.54294	9.254000	0.95512	1.084000	0.41184	0.533000	0.62120	.		0.393	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2		Intron	18	45	0	0	0	0.007413	0	18	45				
PLPPR4	9890	broad.mit.edu	37	1	99753654	99753654	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99753654C>A	ENST00000370185.3	+	2	853	c.356C>A	c.(355-357)gCa>gAa	p.A119E	LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		119					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCAGGAGGCAATTCCATTC	0.438																																							uc001dse.2		NA																	0				ovary(3)	3						c.(355-357)GCA>GAA		plasticity related gene 1							159.0	150.0	153.0					1																	99753654		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99753654C>A																												ENST00000370185.3:c.356C>A	1.37:g.99753654C>A	ENSP00000359204:p.Ala119Glu					LPPR4_uc010oue.1_Missense_Mutation_p.A119E	p.A119E	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	2	462	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	119			Helical; (Potential).		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.356C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007518	0.54361	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.14766	2.48;2.5	5.79	5.79	0.91817	.	0.577013	0.19675	N	0.108655	T	0.05777	0.0151	L	0.29908	0.895	0.36230	D	0.852593	P;B	0.37276	0.589;0.01	B;B	0.31101	0.124;0.028	T	0.36016	-0.9765	10	0.29301	T	0.29	-11.639	20.0243	0.97517	0.0:1.0:0.0:0.0	.	119;119	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	119	ENSP00000359204:A119E;ENSP00000394913:A119E	ENSP00000263178:A119E	A	+	2	0	RP4-788L13.1	99526242	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.857000	0.55972	2.727000	0.93392	0.557000	0.71058	GCA		0.438	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			32	97	1	0	8.16721e-17	0.002096	1.26971e-16	32	97				
SLC25A24	29957	broad.mit.edu	37	1	108728465	108728465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:108728465C>A	ENST00000565488.1	-	2	514	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D80Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	99	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTATTTTTGTCTAAACTCTTA	0.318																																							uc001dvn.3		NA																	0				ovary(1)	1						c.(295-297)GAC>TAC		solute carrier family 25 member 24 isoform 1							98.0	93.0	95.0					1																	108728465		2202	4297	6499	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108728465C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.295G>T	1.37:g.108728465C>A	ENSP00000457733:p.Asp99Tyr					SLC25A24_uc001dvm.2_Missense_Mutation_p.D80Y	p.D99Y	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	2	509	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	99			EF-hand 3.|3 (Potential).|Mitochondrial intermembrane (Potential).		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.295G>T	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211003	0.79240	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T;D	0.95885	-0.89;-3.84	6.17	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99204	1.0874	10	0.87932	D	0	-28.8697	16.8946	0.86097	0.0:0.8722:0.1278:0.0	.	99;80	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	Y	99;80	ENSP00000264128:D99Y;ENSP00000359058:D80Y	ENSP00000264128:D99Y	D	-	1	0	SLC25A24	108529988	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.002000	0.70693	1.623000	0.50342	0.655000	0.94253	GAC		0.318	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		4	24	1	0	0.00909568	0.009096	0.00944648	4	24				
GSTM3	2947	broad.mit.edu	37	1	110280799	110280799	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110280799C>T	ENST00000540225.1	-	6	596	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Missense_Mutation_p.E96K|GSTM3_ENST00000256594.3_Missense_Mutation_p.E96K|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	96	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	ATCTTTTCTTCTTCAGTCTCA	0.488																																							uc001dyo.2		NA																	0					0						c.(286-288)GAA>AAA		glutathione S-transferase mu 3	Glutathione(DB00143)						210.0	198.0	202.0					1																	110280799		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280799C>T	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.286G>A	1.37:g.110280799C>T	ENSP00000444978:p.Glu96Lys					GSTM3_uc001dyp.2_Missense_Mutation_p.E93K|GSTM3_uc010ovv.1_Missense_Mutation_p.E96K	p.E96K	NM_000849	NP_000840	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	6	596	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	96			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.286G>A	CCDS812.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876137	0.51801	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03717	3.83;3.83;3.83	5.41	5.41	0.78517	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.138179	0.64402	D	0.000003	T	0.02119	0.0066	L	0.46567	1.45	0.54753	D	0.999986	B;B;B	0.28900	0.022;0.227;0.022	B;B;B	0.28553	0.005;0.091;0.005	T	0.46843	-0.9162	10	0.42905	T	0.14	-26.7646	11.5166	0.50524	0.0:0.9177:0.0:0.0823	.	96;102;96	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	K	96	ENSP00000444978:E96K;ENSP00000256594:E96K;ENSP00000354357:E96K	ENSP00000256594:E96K	E	-	1	0	GSTM3	110082322	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.657000	0.54474	2.802000	0.96397	0.563000	0.77884	GAA		0.488	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		7	50	0	0	0	0.001984	0	7	50				
UBL4B	164153	broad.mit.edu	37	1	110655635	110655635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110655635G>T	ENST00000334179.3	+	1	574	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	160						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGCCTCAGAGCTCCTGTGAC	0.597																																							uc001dzc.2		NA																	0				ovary(1)	1						c.(478-480)AGC>ATC		ubiquitin-like 4B							18.0	20.0	20.0					1																	110655635		2201	4292	6493	SO:0001583	missense	164153					cytoplasm		g.chr1:110655635G>T		CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.479G>T	1.37:g.110655635G>T	ENSP00000334044:p.Ser160Ile						p.S160I	NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	574	+		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	160						Missense_Mutation	SNP	ENST00000334179.3	37	c.479G>T	CCDS820.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.686016	0.14973	.	.	ENSG00000186150	ENST00000334179	.	.	.	3.22	2.28	0.28536	.	.	.	.	.	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.06127	-1.0844	8	0.41790	T	0.15	.	7.5144	0.27592	0.1341:0.0:0.8659:0.0	.	160	Q8N7F7	UBL4B_HUMAN	I	160	.	ENSP00000334044:S160I	S	+	2	0	UBL4B	110457158	0.101000	0.21875	0.006000	0.13384	0.427000	0.31564	1.776000	0.38594	0.878000	0.35920	0.484000	0.47621	AGC		0.597	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		5	24	1	0	5.9392e-07	0.001168	7.40191e-07	5	24				
SLC6A17	388662	broad.mit.edu	37	1	110737302	110737302	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110737302C>T	ENST00000331565.4	+	9	1886	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	467					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGCTTATCAACCTGGGCC	0.592																																							uc009wfq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1399-1401)ATC>ATT		solute carrier family 6, member 17							158.0	112.0	128.0					1																	110737302		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110737302C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1401C>T	1.37:g.110737302C>T						SLC6A17_uc001dze.1_Silent_p.I65I	p.I467I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	9	1862	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	467			Helical; Name=8; (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.1401C>T	CCDS30799.1																																																																																				0.592	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		10	50	0	0	0	0.000978	0	10	50				
RBM15	64783	broad.mit.edu	37	1	110883936	110883936	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110883936G>T	ENST00000369784.3	+	1	2809	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	RBM15_ENST00000602849.1_Missense_Mutation_p.D637Y|RBM15_ENST00000487146.2_Missense_Mutation_p.D637Y|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	637	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCAGCAGAGACCAGCCTAG	0.592			T	MKL1	acute megakaryocytic leukemia																																		uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1909-1911)GAC>TAC		RNA binding motif protein 15							52.0	47.0	48.0					1																	110883936		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883936G>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1909G>T	1.37:g.110883936G>T	ENSP00000358799:p.Asp637Tyr					RBM15_uc001dzm.1_Missense_Mutation_p.D637Y|uc001dzj.2_5'Flank	p.D637Y	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1992	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	637			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.1909G>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674599	0.67928	.	.	ENSG00000162775	ENST00000369784	T	0.20069	2.1	4.77	4.77	0.60923	.	0.131397	0.34435	N	0.003976	T	0.28665	0.0710	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	P;P	0.60345	0.873;0.75	T	0.03259	-1.1055	10	0.72032	D	0.01	-7.5744	17.9541	0.89063	0.0:0.0:1.0:0.0	.	637;637	Q96T37-3;Q96T37	.;RBM15_HUMAN	Y	637	ENSP00000358799:D637Y	ENSP00000358799:D637Y	D	+	1	0	RBM15	110685459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.017000	0.93651	2.480000	0.83734	0.655000	0.94253	GAC		0.592	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		11	32	1	0	1.58986e-06	0.008291	1.92726e-06	11	32				
PTGFRN	5738	broad.mit.edu	37	1	117492063	117492063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:117492063G>T	ENST00000393203.2	+	4	1229	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	361	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGGTTCGGGATGTTAGC	0.562																																							uc001egv.1		NA																	0				liver(1)	1						c.(1081-1083)CGG>CTG		prostaglandin F2 receptor negative regulator							112.0	100.0	104.0					1																	117492063		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117492063G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1082G>T	1.37:g.117492063G>T	ENSP00000376899:p.Arg361Leu						p.R361L	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1219	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	361			Ig-like C2-type 3.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1082G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318609	0.60524	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.66099	-0.19	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141537	0.45867	D	0.000324	T	0.55705	0.1937	L	0.32530	0.975	0.38745	D	0.953977	D	0.76494	0.999	D	0.71656	0.974	T	0.52049	-0.8627	10	0.09338	T	0.73	-2.4641	15.0578	0.71927	0.0:0.0:1.0:0.0	.	361	Q9P2B2	FPRP_HUMAN	L	361;220	ENSP00000376899:R361L	ENSP00000376899:R361L	R	+	2	0	PTGFRN	117293586	0.999000	0.42202	0.929000	0.37066	0.154000	0.21943	3.744000	0.55112	2.618000	0.88619	0.561000	0.74099	CGG		0.562	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		29	91	1	0	1.39806e-14	0.008361	2.11249e-14	29	91				
CD101	9398	broad.mit.edu	37	1	117568211	117568211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:117568211G>A	ENST00000256652.4	+	8	2567	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.E837K|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	837	Ig-like C2-type 7.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGCAGCCTGGAGAGTGTAGG	0.478																																							uc010oxb.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2509-2511)GAG>AAG		immunoglobulin superfamily, member 2 precursor							79.0	79.0	79.0					1																	117568211		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117568211G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2509G>A	1.37:g.117568211G>A	ENSP00000256652:p.Glu837Lys					CD101_uc009whd.2_Missense_Mutation_p.E837K|CD101_uc010oxc.1_Missense_Mutation_p.E837K|CD101_uc010oxd.1_Missense_Mutation_p.E775K	p.E837K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			8	2567	+			837			Ig-like C2-type 7.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.2509G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687087	0.14973	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.64803	-0.12;-0.12	5.17	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197055	0.35903	N	0.002906	T	0.33030	0.0849	L	0.45137	1.4	0.27688	N	0.946207	P	0.47484	0.896	P	0.48368	0.575	T	0.29336	-1.0015	10	0.06891	T	0.86	-17.1778	8.264	0.31801	0.0:0.1721:0.6491:0.1788	.	837	Q93033	IGSF2_HUMAN	K	837	ENSP00000256652:E837K;ENSP00000358482:E837K	ENSP00000256652:E837K	E	+	1	0	CD101	117369734	0.998000	0.40836	0.884000	0.34674	0.065000	0.16274	1.263000	0.33004	0.707000	0.31934	-0.181000	0.13052	GAG		0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		9	80	0	0	0	0.006214	0	9	80				
ADAM30	11085	broad.mit.edu	37	1	120437773	120437773	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:120437773C>T	ENST00000369400.1	-	1	1345	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	396					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGCACATAACCTAGTCCTGG	0.418																																							uc001eij.2		NA																	0				ovary(2)|lung(1)	3						c.(1186-1188)GGT>GAT		ADAM metallopeptidase domain 30 preproprotein							136.0	138.0	138.0					1																	120437773		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437773C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1187G>A	1.37:g.120437773C>T	ENSP00000358407:p.Gly396Asp						p.G396D	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1341	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	396			Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1187G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	2.954	-0.216088	0.06101	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01139	5.28	4.24	-4.67	0.03319	Metallopeptidase, catalytic domain (1);	1.656800	0.04125	U	0.316995	T	0.00300	0.0009	N	0.20357	0.565	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45644	-0.9247	10	0.17369	T	0.5	.	7.536	0.27710	0.1227:0.1869:0.6037:0.0867	.	396	Q9UKF2	ADA30_HUMAN	D	396	ENSP00000358407:G396D	ENSP00000358407:G396D	G	-	2	0	ADAM30	120239296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.280000	0.02804	-0.493000	0.06678	0.563000	0.77884	GGT		0.418	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		19	213	0	0	0	0.007413	0	19	213				
PDE4DIP	9659	broad.mit.edu	37	1	144859821	144859821	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:144859821G>A	ENST00000369354.3	-	38	6452	c.6263C>T	c.(6262-6264)tCc>tTc	p.S2088F	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2088F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1982F|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2224F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2173F|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2088				Missing (in Ref. 4; CAH18128). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTAATGGAGGAGGGGCTGAG	0.572			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6262-6264)TCC>TTC		phosphodiesterase 4D interacting protein isoform																																				SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859821G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6263C>T	1.37:g.144859821G>A	ENSP00000358360:p.Ser2088Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1982F|PDE4DIP_uc001elv.3_Missense_Mutation_p.S1095F	p.S2088F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6554	-			2088	Missing (in Ref. 4; CAH18128).				A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6263C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144099	0.06627	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01821	4.62;4.69;4.71;4.71;4.69	4.75	-0.693	0.11298	.	.	.	.	.	T	0.00552	0.0018	L	0.61387	1.9	0.09310	N	1	B;P	0.35383	0.001;0.498	B;B	0.27500	0.003;0.08	T	0.45293	-0.9271	9	0.12430	T	0.62	.	5.5422	0.17043	0.239:0.2648:0.4962:0.0	.	1982;2088	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	F	1982;2088;2088;2173;2224	ENSP00000327209:S1982F;ENSP00000358360:S2088F;ENSP00000358363:S2088F;ENSP00000435654:S2173F;ENSP00000358366:S2224F	ENSP00000327209:S1982F	S	-	2	0	PDE4DIP	143571178	0.440000	0.25618	0.000000	0.03702	0.003000	0.03518	0.911000	0.28584	-0.341000	0.08376	0.650000	0.86243	TCC		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		12	92	0	0	0	0.001855	0	12	92				
RPRD2	23248	broad.mit.edu	37	1	150432716	150432716	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:150432716T>G	ENST00000369068.4	+	9	1338	c.1334T>G	c.(1333-1335)tTg>tGg	p.L445W	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.L419W|RPRD2_ENST00000539519.1_Missense_Mutation_p.L419W	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	445						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTGGCTTTGCCAAACCTG	0.473																																							uc009wlr.2		NA																	0				ovary(1)	1						c.(1333-1335)TTG>TGG		Regulation of nuclear pre-mRNA domain containing							69.0	68.0	68.0					1																	150432716		1873	4126	5999	SO:0001583	missense	23248						protein binding	g.chr1:150432716T>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1334T>G	1.37:g.150432716T>G	ENSP00000358064:p.Leu445Trp					RPRD2_uc010pcc.1_Missense_Mutation_p.L419W|RPRD2_uc001eup.3_Missense_Mutation_p.L419W	p.L445W	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			9	1535	+			445					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1334T>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342941	0.82022	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.51574	0.7;0.72;0.7	4.92	4.92	0.64577	.	0.300523	0.32578	N	0.005916	T	0.55878	0.1948	L	0.54323	1.7	0.45554	D	0.998509	D;D;D	0.89917	0.993;0.993;1.0	P;D;D	0.78314	0.889;0.924;0.991	T	0.60865	-0.7178	10	0.72032	D	0.01	-5.8119	14.6549	0.68825	0.0:0.0:0.0:1.0	.	419;445;419	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	W	419;419;445	ENSP00000383785:L419W;ENSP00000445482:L419W;ENSP00000358064:L445W	ENSP00000358064:L445W	L	+	2	0	RPRD2	148699340	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.047000	0.76599	2.194000	0.70268	0.397000	0.26171	TTG		0.473	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		9	26	0	0	0	0.004482	0	9	26				
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152082377G>C	ENST00000368804.1	-	2	3315	c.3316C>G	c.(3316-3318)Cgg>Ggg	p.R1106G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617																																							uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3316-3318)CGG>GGG		trichohyalin							91.0	94.0	93.0					1																	152082377		1973	4135	6108	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082377G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3316C>G	1.37:g.152082377G>C	ENSP00000357794:p.Arg1106Gly					TCHH_uc009wne.1_Missense_Mutation_p.R1106G	p.R1106G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3316	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1106			10 X 30 AA tandem repeats.|4-7.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3316C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	4.876	0.162840	0.09287	.	.	ENSG00000159450	ENST00000368804	T	0.12361	2.69	3.07	1.05	0.20165	.	.	.	.	.	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	1	P	0.38280	0.625	B	0.27608	0.081	T	0.43702	-0.9375	9	0.25106	T	0.35	.	1.5685	0.02609	0.1306:0.2115:0.4418:0.216	.	1106	Q07283	TRHY_HUMAN	G	1106	ENSP00000357794:R1106G	ENSP00000357794:R1106G	R	-	1	2	TCHH	150349001	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.401000	0.20948	0.038000	0.15604	0.462000	0.41574	CGG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		42	193	0	0	0	0.002522	0	42	193				
FLG	2312	broad.mit.edu	37	1	152281931	152281931	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152281931C>G	ENST00000368799.1	-	3	5466	c.5431G>C	c.(5431-5433)Gac>Cac	p.D1811H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1811	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			CGAATGGTGTCCTGACCCTCT	0.597									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5431-5433)GAC>CAC		filaggrin							344.0	352.0	349.0					1																	152281931		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281931C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5431G>C	1.37:g.152281931C>G	ENSP00000357789:p.Asp1811His						p.D1811H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5467	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1811			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5431G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238966	0.22711	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01705	4.68	3.72	1.79	0.24919	.	.	.	.	.	T	0.03477	0.0100	M	0.80028	2.48	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33624	-0.9861	9	0.62326	D	0.03	.	6.2456	0.20815	0.0:0.7607:0.0:0.2393	.	1811	P20930	FILA_HUMAN	H	1811;46	ENSP00000357789:D1811H	ENSP00000271820:D46H	D	-	1	0	FLG	150548555	0.000000	0.05858	0.029000	0.17559	0.111000	0.19643	-1.742000	0.01835	0.366000	0.24427	0.447000	0.29281	GAC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		38	709	0	0	0	0.007835	0	38	709				
FLG2	388698	broad.mit.edu	37	1	152325946	152325946	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152325946C>A	ENST00000388718.5	-	3	4388	c.4316G>T	c.(4315-4317)aGa>aTa	p.R1439I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1439					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTGGTCTGTGTGAGCC	0.527																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4315-4317)AGA>ATA		filaggrin family member 2							354.0	318.0	330.0					1																	152325946		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325946C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4316G>T	1.37:g.152325946C>A	ENSP00000373370:p.Arg1439Ile					uc001ezv.2_Intron	p.R1439I	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4389	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1439					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4316G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230236	0.22542	.	.	ENSG00000143520	ENST00000388718	T	0.25912	1.77	2.74	-0.504	0.11997	.	.	.	.	.	T	0.12689	0.0308	L	0.58101	1.795	0.09310	N	1	P	0.50528	0.936	P	0.48454	0.578	T	0.10177	-1.0641	9	0.36615	T	0.2	-0.8213	5.0587	0.14546	0.0:0.4008:0.4613:0.1378	.	1439	Q5D862	FILA2_HUMAN	I	1439	ENSP00000373370:R1439I	ENSP00000373370:R1439I	R	-	2	0	FLG2	150592570	.	.	0.003000	0.11579	0.004000	0.04260	.	.	-0.077000	0.12752	0.196000	0.17591	AGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		159	396	1	0	6.28038e-61	0.00361	1.10899e-60	159	396				
FLG2	388698	broad.mit.edu	37	1	152327665	152327665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152327665C>T	ENST00000388718.5	-	3	2669	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	866	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTCTGTCCCGAACTTGA	0.493																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2596-2598)GGA>GAA		filaggrin family member 2							379.0	328.0	345.0					1																	152327665		2203	4294	6497	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327665C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2597G>A	1.37:g.152327665C>T	ENSP00000373370:p.Gly866Glu					uc001ezv.2_Intron	p.G866E	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2670	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		866			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2597G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	5.769	0.326294	0.10900	.	.	ENSG00000143520	ENST00000388718	T	0.05319	3.46	4.42	3.49	0.39957	.	.	.	.	.	T	0.08802	0.0218	M	0.65498	2.005	0.09310	N	1	D	0.76494	0.999	D	0.65010	0.931	T	0.19778	-1.0295	9	0.22706	T	0.39	-0.6317	12.0341	0.53415	0.0:0.8237:0.1763:0.0	.	866	Q5D862	FILA2_HUMAN	E	866	ENSP00000373370:G866E	ENSP00000373370:G866E	G	-	2	0	FLG2	150594289	0.002000	0.14202	0.010000	0.14722	0.024000	0.10985	1.630000	0.37081	0.830000	0.34757	0.650000	0.86243	GGA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		176	544	0	0	0	0.00361	0	176	544				
LCE2D	353141	broad.mit.edu	37	1	152636817	152636817	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152636817G>T	ENST00000368784.1	+	2	291	c.236G>T	c.(235-237)cGt>cTt	p.R79L		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization (GO:0031424)			p.R79H(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682																																							uc001fag.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(235-237)CGT>CTT		late cornified envelope 2D							40.0	55.0	50.0					1																	152636817		2192	4279	6471	SO:0001583	missense	353141				keratinization			g.chr1:152636817G>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.236G>T	1.37:g.152636817G>T	ENSP00000357773:p.Arg79Leu						p.R79L	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	291	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.236G>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	g	8.853	0.945162	0.18356	.	.	ENSG00000187223	ENST00000368784	T	0.04234	3.67	2.69	-3.13	0.05266	.	.	.	.	.	T	0.01870	0.0059	M	0.68952	2.095	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.39881	-0.9592	9	0.54805	T	0.06	.	7.2396	0.26090	0.6444:0.0:0.3556:0.0	.	79	Q5TA82	LCE2D_HUMAN	L	79	ENSP00000357773:R79L	ENSP00000357773:R79L	R	+	2	0	LCE2D	150903441	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-3.843000	0.00352	-0.961000	0.03609	-0.680000	0.03767	CGT		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		55	143	1	0	4.09106e-26	0.00361	6.93183e-26	55	143				
KPRP	448834	broad.mit.edu	37	1	152732605	152732605	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152732605C>A	ENST00000606109.1	+	1	569	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	KPRP_ENST00000368773.1_Missense_Mutation_p.Q181K			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	181	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCTCCACCCAGTGCCAGTA	0.557																																							uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(541-543)CAG>AAG		keratinocyte proline-rich protein							129.0	130.0	130.0					1																	152732605		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732605C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.541C>A	1.37:g.152732605C>A	ENSP00000475216:p.Gln181Lys						p.Q181K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	599	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		181			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.541C>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827986	0.32329	.	.	ENSG00000203786	ENST00000368773	T	0.12569	2.67	5.23	5.23	0.72850	.	0.152904	0.30989	N	0.008478	T	0.12390	0.0301	M	0.64997	1.995	0.29700	N	0.84027	P	0.46064	0.872	P	0.45856	0.495	T	0.01185	-1.1425	10	0.59425	D	0.04	-5.9207	15.0268	0.71677	0.0:1.0:0.0:0.0	.	181	Q5T749	KPRP_HUMAN	K	181	ENSP00000357762:Q181K	ENSP00000357762:Q181K	Q	+	1	0	KPRP	150999229	0.251000	0.23961	0.911000	0.35937	0.018000	0.09664	3.262000	0.51538	2.830000	0.97506	0.655000	0.94253	CAG		0.557	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		46	139	1	0	3.05275e-18	0.003214	4.83565e-18	46	139				
UBAP2L	9898	broad.mit.edu	37	1	154201188	154201188	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154201188G>T	ENST00000361546.2	+	3	308	c.266G>T	c.(265-267)gGa>gTa	p.G89V	UBAP2L_ENST00000428931.1_Missense_Mutation_p.G89V|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G89V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G89V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	89	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCTGGAAGGAAACCCAGAC	0.423																																							uc001fep.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(265-267)GGA>GTA		ubiquitin associated protein 2-like isoform a							179.0	154.0	163.0					1																	154201188		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154201188G>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.266G>T	1.37:g.154201188G>T	ENSP00000355343:p.Gly89Val					UBAP2L_uc009wot.2_Missense_Mutation_p.G89V|UBAP2L_uc010pek.1_Missense_Mutation_p.G88V|UBAP2L_uc010pel.1_Missense_Mutation_p.G88V|UBAP2L_uc001fen.1_Missense_Mutation_p.G88V|UBAP2L_uc010pem.1_Missense_Mutation_p.G88V|UBAP2L_uc010pen.1_5'UTR	p.G89V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	433	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		89			UBA.		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.266G>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656972	0.67586	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	4.6	4.6	0.57074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.996;0.994	D;P;P;P	0.71656	0.974;0.876;0.876;0.755	T	0.32981	-0.9886	10	0.87932	D	0	-3.8715	16.5871	0.84730	0.0:0.0:1.0:0.0	.	89;89;89;89	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	V	89	ENSP00000345308:G89V;ENSP00000389445:G89V;ENSP00000399920:G89V;ENSP00000271877:G89V;ENSP00000389052:G89V;ENSP00000357490:G89V;ENSP00000389717:G89V;ENSP00000415310:G89V;ENSP00000355343:G89V	ENSP00000271877:G89V	G	+	2	0	UBAP2L	152467812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.129000	0.94430	2.392000	0.81423	0.655000	0.94253	GGA		0.423	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		12	104	1	0	4.3838e-07	0.001855	5.49981e-07	12	104				
ATP8B2	57198	broad.mit.edu	37	1	154313336	154313336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154313336G>T	ENST00000368489.3	+	13	1140	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E366D	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	366					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGTGTGGAGGTCATCCGTC	0.607																																							uc001fex.2		NA																	0				ovary(1)|skin(1)	2						c.(1138-1140)GAG>GAT		ATPase, class I, type 8B, member 2 isoform a							81.0	78.0	79.0					1																	154313336		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154313336G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1140G>T	1.37:g.154313336G>T	ENSP00000357475:p.Glu380Asp						p.E380D	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		13	1140	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		366			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1140G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829510	0.71258	.	.	ENSG00000143515	ENST00000368489;ENST00000341822	T;T	0.73363	-0.74;-0.74	4.96	-0.593	0.11667	.	0.061173	0.64402	D	0.000005	T	0.78622	0.4312	M	0.79343	2.45	0.45914	D	0.998758	D	0.89917	1.0	D	0.83275	0.996	T	0.80279	-0.1449	10	0.87932	D	0	.	10.6554	0.45671	0.3871:0.0:0.6129:0.0	.	380	P98198-3	.	D	380;366	ENSP00000357475:E380D;ENSP00000340448:E366D	ENSP00000340448:E366D	E	+	3	2	ATP8B2	152579960	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.335000	0.33839	0.017000	0.15025	0.561000	0.74099	GAG		0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		39	91	1	0	9.14704e-12	0.00874	1.3087e-11	39	91				
PBXIP1	57326	broad.mit.edu	37	1	154920756	154920756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154920756C>T	ENST00000368463.3	-	6	567	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PBXIP1_ENST00000368460.3_Missense_Mutation_p.E166K|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E11K|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E137K|PBXIP1_ENST00000539880.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	166					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCGGCCTCCCGGCCCCGC	0.682																																							uc001ffr.2		NA																	0				large_intestine(1)	1						c.(496-498)GAG>AAG		pre-B-cell leukemia homeobox interacting protein							20.0	20.0	20.0					1																	154920756		2201	4298	6499	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154920756C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.496G>A	1.37:g.154920756C>T	ENSP00000357448:p.Glu166Lys					PBXIP1_uc001ffs.2_Missense_Mutation_p.E137K|PBXIP1_uc010pep.1_Missense_Mutation_p.E11K	p.E166K	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	555	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		166					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.496G>A	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377353	0.42105	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	4.64	3.7	0.42460	.	1.131840	0.06587	N	0.751390	T	0.06416	0.0165	M	0.65975	2.015	0.26041	N	0.981615	B	0.32829	0.386	B	0.31101	0.124	T	0.46442	-0.9191	10	0.02654	T	1	-2.5311	12.2974	0.54857	0.0:0.8276:0.1723:0.0	.	166	Q96AQ6	PBIP1_HUMAN	K	137;166;166;11;166	ENSP00000357450:E137K;ENSP00000357448:E166K;ENSP00000438584:E11K;ENSP00000357445:E166K	ENSP00000295523:E166K	E	-	1	0	PBXIP1	153187380	0.033000	0.19621	0.544000	0.28141	0.566000	0.35808	0.877000	0.28106	1.120000	0.41904	0.563000	0.77884	GAG		0.682	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		6	11	0	0	0	0.00308	0	6	11				
SYT11	23208	broad.mit.edu	37	1	155851068	155851068	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:155851068G>C	ENST00000368324.4	+	4	1318	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	SYT11_ENST00000539162.1_Missense_Mutation_p.L48F	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	355	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGTGCACTTTGAACCCCATCT	0.483																																							uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(1063-1065)TTG>TTC		synaptotagmin XI							294.0	308.0	304.0					1																	155851068		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851068G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1065G>C	1.37:g.155851068G>C	ENSP00000357307:p.Leu355Phe					SYT11_uc010pgq.1_Missense_Mutation_p.L48F	p.L355F	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1328	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		355			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1065G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811078	0.70797	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.76186	-1.0;-1.0	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	D	0.88112	0.6349	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89508	0.3769	10	0.59425	D	0.04	.	18.4465	0.90686	0.0:0.0:1.0:0.0	.	355	Q9BT88	SYT11_HUMAN	F	355;48	ENSP00000357307:L355F;ENSP00000441657:L48F	ENSP00000357307:L355F	L	+	3	2	SYT11	154117692	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.493000	0.45320	2.691000	0.91804	0.655000	0.94253	TTG		0.483	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		138	421	0	0	0	0.00361	0	138	421				
FCRL1	115350	broad.mit.edu	37	1	157765932	157765932	+	Missense_Mutation	SNP	C	C	A	rs147036979		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:157765932C>A	ENST00000368176.3	-	11	1314	c.1247G>T	c.(1246-1248)aGg>aTg	p.R416M	FCRL1_ENST00000491942.1_Missense_Mutation_p.R415M|FCRL1_ENST00000358292.3_3'UTR|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTTGCTTTCCTCAGCCTGGA	0.468																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(1246-1248)AGG>ATG		Fc receptor-like 1 isoform 1 precursor							170.0	143.0	152.0					1																	157765932		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157765932C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1247G>T	1.37:g.157765932C>A	ENSP00000357158:p.Arg416Met					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.R415M|FCRL1_uc001fri.2_3'UTR|FCRL1_uc001frj.2_RNA	p.R416M	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		11	1360	-	all_hematologic(112;0.0378)		416			Cytoplasmic (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.1247G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825460	0.32237	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.42900	0.96;0.97	4.37	2.26	0.28386	.	1.650940	0.03168	N	0.170304	T	0.18045	0.0433	N	0.22421	0.69	0.29850	N	0.828514	B;D	0.58620	0.426;0.983	B;P	0.47075	0.088;0.536	T	0.02909	-1.1095	10	0.87932	D	0	.	4.179	0.10365	0.0:0.3047:0.0:0.6953	.	415;416	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	M	416;415	ENSP00000357158:R416M;ENSP00000418130:R415M	ENSP00000357158:R416M	R	-	2	0	FCRL1	156032556	0.497000	0.26067	0.325000	0.25375	0.161000	0.22273	0.563000	0.23547	0.453000	0.26858	0.555000	0.69702	AGG		0.468	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		14	82	1	0	9.31168e-06	0.001855	1.11092e-05	14	82				
CD1D	912	broad.mit.edu	37	1	158151905	158151905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:158151905G>T	ENST00000368171.3	+	4	911	c.412G>T	c.(412-414)Gga>Tga	p.G138*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	138					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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCATTTCAAGGAAAAGATAT	0.512																																							uc001frr.2		NA																	0				ovary(1)	1						c.(412-414)GGA>TGA		CD1D antigen precursor							136.0	148.0	144.0					1																	158151905		2203	4300	6503	SO:0001587	stop_gained	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.chr1:158151905G>T	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.412G>T	1.37:g.158151905G>T	ENSP00000357153:p.Gly138*					CD1D_uc009wsr.1_Nonsense_Mutation_p.G138*|CD1D_uc009wss.2_Nonsense_Mutation_p.G138*|CD1D_uc009wst.1_Nonsense_Mutation_p.G34*	p.G138*	NM_001766	NP_001757	P15813	CD1D_HUMAN			4	911	+	all_hematologic(112;0.0378)		138			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Nonsense_Mutation	SNP	ENST00000368171.3	37	c.412G>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	39	7.474810	0.98306	.	.	ENSG00000158473	ENST00000368171	.	.	.	4.74	4.74	0.60224	.	0.000000	0.46758	D	0.000265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3498	13.3946	0.60843	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000357153:G138X	G	+	1	0	CD1D	156418529	0.992000	0.36948	0.791000	0.31998	0.007000	0.05969	4.143000	0.58051	2.604000	0.88044	0.650000	0.86243	GGA		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		66	248	1	0	3.57465e-26	0.00361	6.07046e-26	66	248				
SPTA1	6708	broad.mit.edu	37	1	158606521	158606521	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:158606521G>A	ENST00000368147.4	-	37	5400	c.5220C>T	c.(5218-5220)gaC>gaT	p.D1740D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1740					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTCCCATAGTCCTGGGAGC	0.483																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5218-5220)GAC>GAT		spectrin, alpha, erythrocytic 1							126.0	121.0	123.0					1																	158606521		1862	4104	5966	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606521G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5220C>T	1.37:g.158606521G>A							p.D1740D	NM_003126	NP_003117	P02549	SPTA1_HUMAN			37	5419	-	all_hematologic(112;0.0378)		1740			Spectrin 17.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5220C>T	CCDS41423.1																																																																																				0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		56	145	0	0	0	0.00361	0	56	145				
CADM3	57863	broad.mit.edu	37	1	159163811	159163811	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:159163811T>A	ENST00000368125.4	+	5	829	c.672T>A	c.(670-672)tcT>tcA	p.S224S	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.S258S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	224	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATCCACCTCTCAACGCATTG	0.507																																							uc001ftl.2		NA																	0				ovary(2)	2						c.(670-672)TCT>TCA		cell adhesion molecule 3 isoform 2							118.0	114.0	115.0					1																	159163811		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163811T>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.672T>A	1.37:g.159163811T>A						CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Silent_p.S258S	p.S224S	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			5	814	+	all_hematologic(112;0.0429)		224			Ig-like C2-type 1.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.672T>A	CCDS44251.1																																																																																				0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		6	81	0	0	0	0.00308	0	6	81				
OR10J1	26476	broad.mit.edu	37	1	159409749	159409749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:159409749C>A	ENST00000423932.3	+	1	238	c.201C>A	c.(199-201)caC>caA	p.H67Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	67					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTCATCTTCACACACCCATGT	0.453																																							uc010piv.1		NA																	0				ovary(1)	1						c.(199-201)CAC>CAA		olfactory receptor, family 10, subfamily J,							175.0	159.0	164.0					1																	159409749		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409749C>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.201C>A	1.37:g.159409749C>A	ENSP00000399078:p.His67Gln					uc001fts.3_Intron	p.H67Q	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	201	+	all_hematologic(112;0.0429)		67			Helical; Name=2; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.201C>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	3.151	-0.174261	0.06421	.	.	ENSG00000196184	ENST00000423932	T	0.15952	2.38	4.48	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000616	T	0.07234	0.0183	M	0.63428	1.95	0.27872	N	0.939991	B	0.19445	0.036	B	0.28638	0.092	T	0.26467	-1.0102	10	0.37606	T	0.19	.	7.4347	0.27148	0.166:0.7439:0.0:0.09	.	67	P30954	O10J1_HUMAN	Q	67	ENSP00000399078:H67Q	ENSP00000399078:H67Q	H	+	3	2	OR10J1	157676373	0.002000	0.14202	0.186000	0.23195	0.023000	0.10783	-0.015000	0.12634	0.601000	0.29879	-0.152000	0.13540	CAC		0.453	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		44	121	1	0	7.53189e-24	0.007835	1.25643e-23	44	121				
PEX19	5824	broad.mit.edu	37	1	160249886	160249886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:160249886C>A	ENST00000368072.5	-	6	766	c.745G>T	c.(745-747)Gag>Tag	p.E249*	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Nonsense_Mutation_p.E102*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E102*|PEX19_ENST00000440949.3_Nonsense_Mutation_p.E159*	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	249					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCATCTCAAAACGAGCC	0.493																																							uc010pjc.1		NA																	0				skin(2)	2						c.(304-306)GAG>TAG		DDB1 and CUL4 associated factor 8							205.0	197.0	199.0					1																	160249886		2203	4300	6503	SO:0001587	stop_gained	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160249886C>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.745G>T	1.37:g.160249886C>A	ENSP00000357051:p.Glu249*					PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Nonsense_Mutation_p.E249*|PEX19_uc001fvt.2_Nonsense_Mutation_p.E159*	p.E102*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	576	-			Error:Variant_position_missing_in_Q5TAQ9_after_alignment					D3DVE7|Q5QNY4|Q8NI97	Nonsense_Mutation	SNP	ENST00000368072.5	37	c.304G>T	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.603293|6.603293	0.97697|0.97697	.|.	.|.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735|ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220|ENST00000495624	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24483|.	T|.	0.36|.	-5.5772|-5.5772	18.8114|18.8114	0.92059|0.92059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	102;102;119;249;229;159;229|86	.|.	ENSP00000357051:E249X|.	E|X	-|-	1|2	0|2	RP11-574F21.3;PEX19;DCAF8|PEX19	158516510|158516510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	6.588000|6.588000	0.74076|0.74076	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.493	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		105	227	1	0	7.73176e-47	0.00361	1.36209e-46	105	227				
NCSTN	23385	broad.mit.edu	37	1	160314522	160314522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:160314522G>T	ENST00000294785.5	+	2	221	c.96G>T	c.(94-96)agG>agT	p.R32S	COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000535857.1_Missense_Mutation_p.R32S|NCSTN_ENST00000368063.1_Missense_Mutation_p.R12S|COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000392212.4_Missense_Mutation_p.R12S	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	32					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)			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)			GTTTGTGCAGGGGAAACTCAG	0.438																																							uc001fvx.2		NA																	0				ovary(1)|lung(1)	2						c.(94-96)AGG>AGT		nicastrin precursor							76.0	75.0	76.0					1																	160314522		2203	4300	6503	SO:0001583	missense	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.chr1:160314522G>T	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.96G>T	1.37:g.160314522G>T	ENSP00000294785:p.Arg32Ser					COPA_uc009wti.2_5'Flank|COPA_uc001fvv.3_5'Flank|COPA_uc009wtj.1_5'Flank|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.R12S|NCSTN_uc010pjf.1_Missense_Mutation_p.R32S	p.R32S	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	220	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		32					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.96G>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920201	0.33908	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.76448	-1.02;-0.98;-0.03;0.0;-0.02;-0.09;-0.98	4.59	-1.43	0.08884	.	1.112520	0.06609	N	0.755269	T	0.31263	0.0791	N	0.12182	0.205	0.35858	D	0.827247	B;B;B	0.17038	0.001;0.02;0.001	B;B;B	0.15870	0.001;0.014;0.001	T	0.11470	-1.0586	10	0.09084	T	0.74	0.527	4.6694	0.12682	0.4143:0.0:0.4371:0.1487	.	32;12;32	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	S	32;12;32;32;32;65;12	ENSP00000294785:R32S;ENSP00000357042:R12S;ENSP00000415442:R32S;ENSP00000390409:R32S;ENSP00000442605:R32S;ENSP00000389370:R65S;ENSP00000376047:R12S	ENSP00000294785:R32S	R	+	3	2	NCSTN	158581146	0.098000	0.21812	0.034000	0.17996	0.987000	0.75469	0.817000	0.27281	-0.120000	0.11809	0.557000	0.71058	AGG		0.438	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		14	57	1	0	2.31682e-05	0.003163	2.71255e-05	14	57				
LRRC52	440699	broad.mit.edu	37	1	165514132	165514132	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:165514132T>A	ENST00000294818.1	+	1	889	c.599T>A	c.(598-600)aTa>aAa	p.I200K	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	200	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATCTTCTTAATAGTGTTCCAT	0.498																																							uc001gde.2		NA																	0				ovary(1)	1						c.(598-600)ATA>AAA		leucine rich repeat containing 52 precursor							112.0	114.0	113.0					1																	165514132		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165514132T>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.599T>A	1.37:g.165514132T>A	ENSP00000294818:p.Ile200Lys					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.I200K	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			1	655	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		200			Extracellular (Potential).|LRRCT.		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.599T>A	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	T	1.815	-0.473691	0.04414	.	.	ENSG00000162763	ENST00000294818	T	0.02197	4.4	5.39	5.39	0.77823	.	0.724484	0.14135	N	0.339095	T	0.00967	0.0032	L	0.51422	1.61	0.80722	D	1.000000	B	0.15473	0.013	B	0.14023	0.01	T	0.38415	-0.9662	9	0.05959	T	0.93	.	13.3669	0.60689	0.0:0.0:0.0:1.0	.	200	Q8N7C0	LRC52_HUMAN	K	200	ENSP00000294818:I200K	ENSP00000294818:I200K	I	+	2	0	LRRC52	163780756	0.814000	0.29104	0.141000	0.22245	0.987000	0.75469	1.105000	0.31086	2.037000	0.60232	0.460000	0.39030	ATA		0.498	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		37	157	0	0	0	0.007835	0	37	157				
FMO1	2326	broad.mit.edu	37	1	171252285	171252285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:171252285G>T	ENST00000354841.4	+	7	1317	c.1186G>T	c.(1186-1188)Gta>Tta	p.V396L	FMO1_ENST00000367750.3_Missense_Mutation_p.V396L|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.V333L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	396					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCCTACAGGTGTAAATAAGTT	0.358																																							uc009wvz.2		NA																	0				skin(1)	1						c.(1186-1188)GTA>TTA		flavin containing monooxygenase 1							120.0	121.0	121.0					1																	171252285		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171252285G>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1186G>T	1.37:g.171252285G>T	ENSP00000346901:p.Val396Leu					FMO1_uc010pme.1_Missense_Mutation_p.V333L|FMO1_uc001ghl.2_Missense_Mutation_p.V396L|FMO1_uc001ghm.2_Missense_Mutation_p.V396L|FMO1_uc001ghn.2_Intron	p.V396L	NM_002021	NP_002012	Q01740	FMO1_HUMAN			8	1322	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		396					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.1186G>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	4.483	0.089635	0.08632	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.62639	0.01;0.01;0.01	5.5	-7.55	0.01327	.	0.976288	0.08436	N	0.946243	T	0.06416	0.0165	N	0.00473	-1.45	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.007	T	0.32268	-0.9913	10	0.18710	T	0.47	-28.4934	5.0896	0.14700	0.5709:0.0822:0.1984:0.1485	.	333;396	B7Z3P4;Q01740	.;FMO1_HUMAN	L	396;333;396	ENSP00000356724:V396L;ENSP00000385543:V333L;ENSP00000346901:V396L	ENSP00000346901:V396L	V	+	1	0	FMO1	169518909	0.003000	0.15002	0.001000	0.08648	0.588000	0.36517	-0.934000	0.03955	-1.247000	0.02507	-0.251000	0.11542	GTA		0.358	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		32	77	1	0	1.61788e-16	0.002445	2.51004e-16	32	77				
PAPPA2	60676	broad.mit.edu	37	1	176526271	176526271	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176526271G>T	ENST00000367662.3	+	2	1977	c.813G>T	c.(811-813)cgG>cgT	p.R271R	PAPPA2_ENST00000367661.3_Silent_p.R271R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	271					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCGGGAGCGGCTGCTGCTGC	0.567																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(811-813)CGG>CGT		pappalysin 2 isoform 1							37.0	38.0	37.0					1																	176526271		1936	4147	6083	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526271G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.813G>T	1.37:g.176526271G>T						PAPPA2_uc001gky.1_Silent_p.R271R|PAPPA2_uc009www.2_RNA	p.R271R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1977	+			271					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.813G>T	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			16	44	1	0	4.7546e-09	0.004007	6.34508e-09	16	44				
PAPPA2	60676	broad.mit.edu	37	1	176679280	176679280	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176679280G>T	ENST00000367662.3	+	11	4783	c.3619G>T	c.(3619-3621)Gtt>Ttt	p.V1207F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1207					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGTGTCCTGTTTCCTTGGT	0.463																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3619-3621)GTT>TTT		pappalysin 2 isoform 1							104.0	104.0	104.0					1																	176679280		1903	4130	6033	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679280G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3619G>T	1.37:g.176679280G>T	ENSP00000356634:p.Val1207Phe					PAPPA2_uc009www.2_RNA	p.V1207F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			11	4783	+			1207					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3619G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309638	0.81247	.	.	ENSG00000116183	ENST00000367662	T	0.42900	0.96	5.76	4.85	0.62838	.	0.371143	0.30028	N	0.010581	T	0.53142	0.1778	M	0.70595	2.14	0.80722	D	1	P	0.49185	0.92	P	0.49708	0.62	T	0.59490	-0.7445	10	0.72032	D	0.01	-4.5929	14.3709	0.66838	0.0715:0.0:0.9285:0.0	.	1207	Q9BXP8	PAPP2_HUMAN	F	1207	ENSP00000356634:V1207F	ENSP00000356634:V1207F	V	+	1	0	PAPPA2	174945903	1.000000	0.71417	0.987000	0.45799	0.732000	0.41865	5.917000	0.69989	1.426000	0.47256	0.655000	0.94253	GTT		0.463	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			42	81	1	0	1.8453e-21	0.002522	3.05121e-21	42	81				
ASTN1	460	broad.mit.edu	37	1	176915112	176915112	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176915112G>C	ENST00000367654.3	-	13	2434	c.2223C>G	c.(2221-2223)aaC>aaG	p.N741K	ASTN1_ENST00000361833.2_Missense_Mutation_p.N733K|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.N733K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	741					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGAATGGTTGTTGTAACCAA	0.483																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2197-2199)AAC>AAG		astrotactin isoform 1							123.0	125.0	124.0					1																	176915112		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915112G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2223C>G	1.37:g.176915112G>C	ENSP00000356626:p.Asn741Lys					ASTN1_uc001glb.1_Missense_Mutation_p.N733K|ASTN1_uc001gld.1_Missense_Mutation_p.N733K|ASTN1_uc009wwx.1_Missense_Mutation_p.N733K	p.N733K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2411	-			741					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2199C>G		.	.	.	.	.	.	.	.	.	.	G	19.18	3.777167	0.70107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16897	2.31;2.72;2.72;2.31	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	L	0.27053	0.805	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.989;0.989	D;D;D	0.78314	0.991;0.979;0.979	T	0.02646	-1.1129	10	0.87932	D	0	-37.9414	9.8479	0.41039	0.1577:0.0:0.8423:0.0	.	741;733;733	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	733;733;741;733;733	ENSP00000356629:N733K;ENSP00000354536:N733K;ENSP00000356626:N741K;ENSP00000395041:N733K	ENSP00000354536:N733K	N	-	3	2	ASTN1	175181735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	1.232000	0.43678	0.655000	0.94253	AAC		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		51	164	0	0	0	0.00361	0	51	164				
BRINP2	57795	broad.mit.edu	37	1	177250467	177250467	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:177250467C>G	ENST00000361539.4	+	8	2467	c.2155C>G	c.(2155-2157)Cag>Gag	p.Q719E	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	719					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TGCACTCTTGCAGCTCATTGA	0.542																																							uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2155-2157)CAG>GAG		family with sequence similarity 5, member B							102.0	99.0	100.0					1																	177250467		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250467C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2155C>G	1.37:g.177250467C>G	ENSP00000354481:p.Gln719Glu					FAM5B_uc001glg.2_Missense_Mutation_p.Q614E	p.Q719E	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2467	+			719					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2155C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884390	0.33255	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14391	2.51	5.06	5.06	0.68205	.	0.168916	0.52532	D	0.000065	T	0.26159	0.0638	L	0.47716	1.5	0.42351	D	0.99237	D;P	0.53885	0.963;0.635	P;B	0.54238	0.746;0.16	T	0.01084	-1.1457	10	0.66056	D	0.02	-20.7759	18.0161	0.89241	0.0:1.0:0.0:0.0	.	614;719	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	E	472;719	ENSP00000354481:Q719E	ENSP00000354481:Q719E	Q	+	1	0	FAM5B	175517090	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.945000	0.70226	2.351000	0.79841	0.313000	0.20887	CAG		0.542	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		23	162	0	0	0	0.003954	0	23	162				
CACNA1E	777	broad.mit.edu	37	1	181741334	181741334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:181741334C>A	ENST00000367573.2	+	37	5106	c.5106C>A	c.(5104-5106)taC>taA	p.Y1702*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1309*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1634*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1702*|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1653*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1702					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACGTGTACTTTGTCTCCT	0.547																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5104-5106)TAC>TAA		calcium channel, voltage-dependent, R type,							220.0	218.0	218.0					1																	181741334		2186	4278	6464	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741334C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5106C>A	1.37:g.181741334C>A	ENSP00000356545:p.Tyr1702*					CACNA1E_uc009wxs.2_Nonsense_Mutation_p.Y1590*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.Y928*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.Y928*	p.Y1702*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			37	5271	+			1702			IV.|Helical; Name=S6 of repeat IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.5106C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	53	20.133695	0.99927	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.77	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9166	0.41439	0.0:0.8426:0.0:0.1574	.	.	.	.	X	1702;1683;1653;1634;1309;1683;1702	.	ENSP00000350183:Y1653X	Y	+	3	2	CACNA1E	180007957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.547000	0.45786	1.423000	0.47198	0.643000	0.83706	TAC		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		36	134	1	0	4.62619e-21	0.004289	7.63271e-21	36	134				
LAMC1	3915	broad.mit.edu	37	1	183093904	183093904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:183093904G>C	ENST00000258341.4	+	14	2797	c.2540G>C	c.(2539-2541)gGa>gCa	p.G847A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	847	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CGCTTGACGGGAGAATGCCTG	0.517																																							uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(2539-2541)GGA>GCA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	93.0	98.0					1																	183093904		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093904G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2540G>C	1.37:g.183093904G>C	ENSP00000258341:p.Gly847Ala						p.G847A	NM_002293	NP_002284	P11047	LAMC1_HUMAN			14	2797	+			847			Laminin EGF-like 8.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2540G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784057	0.90282	.	.	ENSG00000135862	ENST00000258341	T	0.70282	-0.47	5.51	5.51	0.81932	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93905	0.7192	10	0.87932	D	0	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	847	P11047	LAMC1_HUMAN	A	847	ENSP00000258341:G847A	ENSP00000258341:G847A	G	+	2	0	LAMC1	181360527	1.000000	0.71417	0.852000	0.33557	0.854000	0.48673	9.135000	0.94478	2.587000	0.87381	0.650000	0.86243	GGA		0.517	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	47	0	0	0	0.003163	0	15	47				
TPR	7175	broad.mit.edu	37	1	186287604	186287604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:186287604C>T	ENST00000367478.4	-	48	7092	c.6796G>A	c.(6796-6798)Gta>Ata	p.V2266I		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2266					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCACAAATACTTCATCTCCA	0.388			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6796-6798)GTA>ATA		nuclear pore complex-associated protein TPR							140.0	131.0	134.0					1																	186287604		1925	4140	6065	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186287604C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6796G>A	1.37:g.186287604C>T	ENSP00000356448:p.Val2266Ile						p.V2266I	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	48	7093	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2266					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6796G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470456	0.84533	.	.	ENSG00000047410	ENST00000367478	T	0.26223	1.75	5.8	4.88	0.63580	.	0.118823	0.56097	D	0.000034	T	0.28034	0.0691	M	0.67953	2.075	0.36530	D	0.870652	B	0.18310	0.027	B	0.11329	0.006	T	0.15925	-1.0420	10	0.19147	T	0.46	.	15.2733	0.73723	0.0:0.9318:0.0:0.0682	.	2266	P12270	TPR_HUMAN	I	2266	ENSP00000356448:V2266I	ENSP00000356448:V2266I	V	-	1	0	TPR	184554227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.377000	0.44300	2.732000	0.93576	0.650000	0.86243	GTA		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	211	0	0	0	0.001168	0	6	211				
PTGS2	5743	broad.mit.edu	37	1	186645624	186645624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:186645624G>T	ENST00000367468.5	-	7	1081	c.945C>A	c.(943-945)ttC>ttA	p.F315L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	315					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TGCTTGTCTGGAACAACTGCT	0.423																																							uc001gsb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(943-945)TTC>TTA		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						147.0	144.0	145.0					1																	186645624		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645624G>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.945C>A	1.37:g.186645624G>T	ENSP00000356438:p.Phe315Leu					PTGS2_uc009wyo.2_Missense_Mutation_p.F162L	p.F315L	NM_000963	NP_000954	P35354	PGH2_HUMAN			7	1082	-			315					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.945C>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399951	0.83120	.	.	ENSG00000073756	ENST00000367468	T	0.81330	-1.48	5.51	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.92137	0.5717	10	0.87932	D	0	-18.5514	9.2655	0.37639	0.1355:0.1201:0.7444:0.0	.	315;315	Q8IZA9;P35354	.;PGH2_HUMAN	L	315	ENSP00000356438:F315L	ENSP00000356438:F315L	F	-	3	2	PTGS2	184912247	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.670000	0.61583	1.325000	0.45301	0.650000	0.86243	TTC		0.423	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		38	160	1	0	1.58521e-26	0.005524	2.69807e-26	38	160				
PTGS2	5743	broad.mit.edu	37	1	186645994	186645994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:186645994G>T	ENST00000367468.5	-	6	830	c.694C>A	c.(694-696)Ctt>Att	p.L232I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	232					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TCCTTGAAAAGGCGCAGTTTA	0.318																																							uc001gsb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(694-696)CTT>ATT		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						139.0	156.0	150.0					1																	186645994		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645994G>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.694C>A	1.37:g.186645994G>T	ENSP00000356438:p.Leu232Ile					PTGS2_uc009wyo.2_Missense_Mutation_p.L79I	p.L232I	NM_000963	NP_000954	P35354	PGH2_HUMAN			6	831	-			232					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.694C>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622253	0.87460	.	.	ENSG00000073756	ENST00000367468	T	0.69306	-0.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.87682	2.9	0.80722	D	1	D;P	0.65815	0.995;0.551	D;P	0.87578	0.998;0.768	D	0.84637	0.0693	10	0.54805	T	0.06	-24.954	12.7338	0.57212	0.0747:0.0:0.9253:0.0	.	232;232	Q8IZA9;P35354	.;PGH2_HUMAN	I	232	ENSP00000356438:L232I	ENSP00000356438:L232I	L	-	1	0	PTGS2	184912617	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.541000	0.73865	2.586000	0.87340	0.650000	0.86243	CTT		0.318	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		59	202	1	0	4.45325e-31	0.00361	7.68365e-31	59	202				
RGS1	5996	broad.mit.edu	37	1	192544947	192544947	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:192544947C>G	ENST00000367459.3	+	1	91	c.25C>G	c.(25-27)Cca>Gca	p.P9A	RGS1_ENST00000469578.2_Missense_Mutation_p.P9A	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	9					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CATCTCCACTCCAAAGTTAGA	0.443																																							uc001gsi.1		NA																	0					0						c.(25-27)CCA>GCA		regulator of G-protein signalling 1							86.0	86.0	86.0					1																	192544947		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192544947C>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.25C>G	1.37:g.192544947C>G	ENSP00000356429:p.Pro9Ala					RGS1_uc010pou.1_Missense_Mutation_p.P9A	p.P9A	NM_002922	NP_002913	Q08116	RGS1_HUMAN			1	91	+		Breast(1374;0.188)	9					B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.25C>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	0.761	-0.769351	0.02974	.	.	ENSG00000090104	ENST00000367459	T	0.42900	0.96	6.08	2.2	0.27929	.	0.973525	0.08389	N	0.953254	T	0.25606	0.0623	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.29397	-1.0013	10	0.62326	D	0.03	.	2.1	0.03677	0.1248:0.4289:0.2425:0.2038	.	9;9	Q08116-2;Q08116	.;RGS1_HUMAN	A	9	ENSP00000356429:P9A	ENSP00000356429:P9A	P	+	1	0	RGS1	190811570	0.000000	0.05858	0.007000	0.13788	0.043000	0.13939	0.319000	0.19522	0.171000	0.19730	-0.469000	0.05056	CCA		0.443	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		11	84	0	0	0	0.008291	0	11	84				
CACNA1S	779	broad.mit.edu	37	1	201009108	201009108	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:201009108C>G	ENST00000362061.3	-	44	5699	c.5473G>C	c.(5473-5475)Gtg>Ctg	p.V1825L	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1806L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1825					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGATCTCCACTTCCTCTGGT	0.612																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5473-5475)GTG>CTG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						153.0	141.0	145.0					1																	201009108		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009108C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5473G>C	1.37:g.201009108C>G	ENSP00000355192:p.Val1825Leu						p.V1825L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			44	5700	-			1825			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5473G>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	16.56	3.156398	0.57259	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	.	0.477554	0.15429	U	0.262829	T	0.65270	0.2675	M	0.61703	1.905	0.40003	D	0.975193	D	0.64830	0.994	D	0.70716	0.97	T	0.59627	-0.7419	10	0.21014	T	0.42	.	10.3826	0.44121	0.0:0.9079:0.0:0.0921	.	1825	Q13698	CAC1S_HUMAN	L	1825;1806	ENSP00000355192:V1825L;ENSP00000356307:V1806L	ENSP00000355192:V1825L	V	-	1	0	CACNA1S	199275731	0.872000	0.30054	0.992000	0.48379	0.795000	0.44927	1.322000	0.33689	2.285000	0.76669	0.404000	0.27445	GTG		0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		38	140	0	0	0	0.006999	0	38	140				
TMCC2	9911	broad.mit.edu	37	1	205210770	205210770	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:205210770C>A	ENST00000358024.3	+	2	734	c.345C>A	c.(343-345)tcC>tcA	p.S115S	TMCC2_ENST00000545499.1_Silent_p.S37S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	115						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGTATGTCCGACCATGACT	0.637																																							uc001hbz.1		NA																	0				pancreas(1)	1						c.(343-345)TCC>TCA		transmembrane and coiled-coil domain family 2							84.0	66.0	72.0					1																	205210770		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205210770C>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.345C>A	1.37:g.205210770C>A						TMCC2_uc010prf.1_Silent_p.S37S	p.S115S	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	789	+	Breast(84;0.0871)		115					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.345C>A	CCDS30984.1																																																																																				0.637	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		14	35	1	0	0.000151284	0.001855	0.000172049	14	35				
INTS7	25896	broad.mit.edu	37	1	212193585	212193585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:212193585G>C	ENST00000366994.3	-	3	354	c.250C>G	c.(250-252)Ctt>Gtt	p.L84V	INTS7_ENST00000440600.2_Intron|INTS7_ENST00000366993.3_Missense_Mutation_p.L84V|INTS7_ENST00000366992.3_Missense_Mutation_p.L84V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	84					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTAACTTTAAGAACACATAGC	0.294																																							uc001hiw.1		NA																	0					0						c.(250-252)CTT>GTT		integrator complex subunit 7							60.0	59.0	59.0					1																	212193585		2201	4298	6499	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212193585G>C	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.250C>G	1.37:g.212193585G>C	ENSP00000355961:p.Leu84Val					INTS7_uc009xdb.1_Missense_Mutation_p.L84V|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.L84V|INTS7_uc010pta.1_Intron	p.L84V	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	3	355	-			84					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.250C>G	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199268	0.79015	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992	T;T;T	0.34472	1.36;1.36;1.36	5.21	4.26	0.50523	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.69463	2.115	0.80722	D	1	P;B;B	0.35348	0.496;0.346;0.346	B;B;B	0.32211	0.142;0.142;0.142	T	0.24190	-1.0167	10	0.30078	T	0.28	-18.7681	15.1824	0.72968	0.0:0.0:0.8588:0.1412	.	84;84;84	Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;INT7_HUMAN	V	84	ENSP00000355961:L84V;ENSP00000355960:L84V;ENSP00000355959:L84V	ENSP00000355959:L84V	L	-	1	0	INTS7	210260208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.350000	0.73017	2.431000	0.82371	0.650000	0.86243	CTT		0.294	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		5	26	0	0	0	0.001168	0	5	26				
USH2A	7399	broad.mit.edu	37	1	215848172	215848172	+	Missense_Mutation	SNP	G	G	T	rs549635397		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:215848172G>T	ENST00000307340.3	-	63	13467	c.13081C>A	c.(13081-13083)Cct>Act	p.P4361T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4361T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4361	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCTGGAGGGCTGACTTCT	0.488										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13081-13083)CCT>ACT		usherin isoform B							53.0	55.0	55.0					1																	215848172		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848172G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13081C>A	1.37:g.215848172G>T	ENSP00000305941:p.Pro4361Thr	HNSCC(13;0.011)					p.P4361T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13468	-			4361			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13081C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230001	0.58777	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56611	0.45;0.45	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41938	U	0.000789	T	0.69369	0.3103	M	0.73430	2.235	0.44852	D	0.99786	D	0.57899	0.981	P	0.58077	0.832	T	0.71384	-0.4609	10	0.46703	T	0.11	.	18.5712	0.91136	0.0:0.0:1.0:0.0	.	4361	O75445	USH2A_HUMAN	T	4361	ENSP00000305941:P4361T;ENSP00000355910:P4361T	ENSP00000305941:P4361T	P	-	1	0	USH2A	213914795	1.000000	0.71417	0.993000	0.49108	0.733000	0.41908	3.562000	0.53777	2.384000	0.81235	0.467000	0.42956	CCT		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	50	1	0	8.28177e-16	0.007413	1.26662e-15	18	50				
USH2A	7399	broad.mit.edu	37	1	216465522	216465522	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:216465522G>A	ENST00000307340.3	-	10	2221	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	USH2A_ENST00000366943.2_Missense_Mutation_p.T612I|USH2A_ENST00000366942.3_Missense_Mutation_p.T612I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	612	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTACCTGTAGTGTTATGCTC	0.383										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1834-1836)ACT>ATT		usherin isoform B							142.0	125.0	131.0					1																	216465522		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465522G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1835C>T	1.37:g.216465522G>A	ENSP00000305941:p.Thr612Ile	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T612I	p.T612I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2222	-			612			Laminin EGF-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1835C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305698	0.60305	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63255	-0.03;-0.03;-0.03	4.76	2.85	0.33270	EGF-like, laminin (4);	0.000000	0.43416	U	0.000576	D	0.85474	0.5705	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.88654	0.3184	10	0.87932	D	0	.	11.1694	0.48563	0.1522:0.0:0.8478:0.0	.	612;612	O75445-2;O75445	.;USH2A_HUMAN	I	612	ENSP00000305941:T612I;ENSP00000355910:T612I;ENSP00000355909:T612I	ENSP00000305941:T612I	T	-	2	0	USH2A	214532145	1.000000	0.71417	0.271000	0.24616	0.804000	0.45430	4.611000	0.61162	1.005000	0.39183	0.467000	0.42956	ACT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	121	0	0	0	0.002445	0	33	121				
SIPA1L2	57568	broad.mit.edu	37	1	232577060	232577060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:232577060C>A	ENST00000366630.1	-	13	3977	c.3619G>T	c.(3619-3621)Gat>Tat	p.D1207Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1207Y|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D281Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1207					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGGGGGAATCTTTGCAACTT	0.468																																							uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3619-3621)GAT>TAT		signal-induced proliferation-associated 1 like							339.0	344.0	342.0					1																	232577060		1856	4105	5961	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232577060C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3619G>T	1.37:g.232577060C>A	ENSP00000355589:p.Asp1207Tyr					SIPA1L2_uc001hvf.2_Missense_Mutation_p.D281Y	p.D1207Y	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			12	3777	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1207					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3619G>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032805	0.75504	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.41065	1.01;1.01;1.01	6.17	6.17	0.99709	.	0.849065	0.10833	N	0.629115	T	0.56171	0.1967	M	0.61703	1.905	0.41337	D	0.987277	P;P	0.48640	0.771;0.913	B;P	0.53006	0.241;0.715	T	0.48636	-0.9018	10	0.51188	T	0.08	-16.5181	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	1207;281	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Y	1207;1207;281	ENSP00000355589:D1207Y;ENSP00000262861:D1207Y;ENSP00000309102:D281Y	ENSP00000262861:D1207Y	D	-	1	0	SIPA1L2	230643683	1.000000	0.71417	0.781000	0.31783	0.993000	0.82548	5.007000	0.63984	2.941000	0.99782	0.655000	0.94253	GAT		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		106	413	1	0	8.74965e-44	0.00361	1.53782e-43	106	413				
LYST	1130	broad.mit.edu	37	1	235883977	235883977	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:235883977C>G	ENST00000389794.3	-	40	9718	c.9544G>C	c.(9544-9546)Gat>Cat	p.D3182H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3182H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3182	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCAACAGATCATTGAGGTCA	0.348																																							uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(9544-9546)GAT>CAT		lysosomal trafficking regulator							128.0	117.0	120.0					1																	235883977		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235883977C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9544G>C	1.37:g.235883977C>G	ENSP00000374444:p.Asp3182His					LYST_uc001hxi.2_Missense_Mutation_p.D406H	p.D3182H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		40	9719	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3182			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9544G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231618	0.39399	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65549	-0.16;-0.16	5.65	5.65	0.86999	BEACH domain (4);	0.132557	0.64402	D	0.000002	T	0.69895	0.3162	M	0.83692	2.655	0.80722	D	1	B	0.24618	0.107	B	0.27076	0.076	T	0.69468	-0.5137	10	0.59425	D	0.04	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	3182	Q99698	LYST_HUMAN	H	3182	ENSP00000374444:D3182H;ENSP00000374443:D3182H	ENSP00000374443:D3182H	D	-	1	0	LYST	233950600	1.000000	0.71417	0.114000	0.21550	0.252000	0.25951	7.741000	0.84997	2.672000	0.90937	0.655000	0.94253	GAT		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			12	124	0	0	0	0.001368	0	12	124				
NID1	4811	broad.mit.edu	37	1	236187502	236187502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:236187502C>A	ENST00000264187.6	-	9	2078	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	NID1_ENST00000366595.3_Missense_Mutation_p.D666Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	666	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGAAGAGCATCAGGGGAGCCT	0.547																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1996-1998)GAT>TAT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						61.0	52.0	55.0					1																	236187502		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236187502C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1996G>T	1.37:g.236187502C>A	ENSP00000264187:p.Asp666Tyr					NID1_uc009xgd.2_Missense_Mutation_p.D666Y	p.D666Y	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		9	2098	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	666			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1996G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617558	0.87359	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.89050	-1.78;-2.46	5.73	5.73	0.89815	G2 nidogen/fibulin G2F (2);	0.141345	0.64402	D	0.000007	D	0.93177	0.7827	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.68943	0.961;0.702	D	0.92881	0.6323	10	0.56958	D	0.05	.	19.8913	0.96931	0.0:1.0:0.0:0.0	.	666;666	P14543-2;P14543	.;NID1_HUMAN	Y	666	ENSP00000264187:D666Y;ENSP00000355554:D666Y	ENSP00000264187:D666Y	D	-	1	0	NID1	234254125	1.000000	0.71417	0.962000	0.40283	0.936000	0.57629	6.338000	0.72963	2.702000	0.92279	0.655000	0.94253	GAT		0.547	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		8	52	1	0	0.000274275	0.004482	0.000303231	8	52				
RYR2	6262	broad.mit.edu	37	1	237494244	237494244	+	Missense_Mutation	SNP	C	C	A	rs368014180		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:237494244C>A	ENST00000366574.2	+	3	552	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	RYR2_ENST00000360064.6_Nonsense_Mutation_p.C76*|RYR2_ENST00000542537.1_Missense_Mutation_p.Q63K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	79					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGGCGCTGCAGGAGATGCT	0.502																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(235-237)CAG>AAG		cardiac muscle ryanodine receptor		C	LYS/GLN	0,4096		0,0,2048	95.0	102.0	100.0		235	5.3	1.0	1		100	1,8467		0,1,4233	no	missense	RYR2	NM_001035.2	53	0,1,6281	AA,AC,CC		0.0118,0.0,0.0080	possibly-damaging	79/4968	237494244	1,12563	2048	4234	6282	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237494244C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.235C>A	1.37:g.237494244C>A	ENSP00000355533:p.Gln79Lys						p.Q79K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		3	355	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	79			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.235C>A	CCDS55691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.627990|6.627990	0.97718|0.97718	0.0|0.0	1.18E-4|1.18E-4	ENSG00000198626|ENSG00000198626	ENST00000360064|ENST00000366574;ENST00000542537	.|D;D	.|0.98178	.|-4.77;-4.77	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	1.595260|.	0.04845|.	U|.	0.441307|.	.|D	.|0.98966	.|0.9648	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D	.|0.53885	.|0.963	.|D	.|0.68621	.|0.959	.|D	.|0.99701	.|1.1004	.|9	0.54805|0.62326	T|D	0.06|0.03	.|.	17.6391|17.6391	0.88130|0.88130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|79	.|Q92736	.|RYR2_HUMAN	X|K	76|79;63	.|ENSP00000355533:Q79K;ENSP00000443798:Q63K	ENSP00000353174:C76X|ENSP00000355533:Q79K	C|Q	+|+	3|1	2|0	RYR2|RYR2	235560867|235560867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.413000|7.413000	0.80104|0.80104	2.427000|2.427000	0.82271|0.82271	0.650000|0.650000	0.86243|0.86243	TGC|CAG		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	65	1	0	0.000229342	0.001882	0.000258095	19	65				
RYR2	6262	broad.mit.edu	37	1	237880535	237880535	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:237880535G>A	ENST00000366574.2	+	72	10678	c.10361G>A	c.(10360-10362)cGc>cAc	p.R3454H	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3452H|RYR2_ENST00000542537.1_Missense_Mutation_p.R3438H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3454					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAATGAAGCGCAAAGGAGAT	0.488																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10360-10362)CGC>CAC		cardiac muscle ryanodine receptor							80.0	83.0	82.0					1																	237880535		1911	4109	6020	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237880535G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10361G>A	1.37:g.237880535G>A	ENSP00000355533:p.Arg3454His					RYR2_uc010pxz.1_Missense_Mutation_p.R409H	p.R3454H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10481	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3454					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10361G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586395	0.86851	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97575	-4.4;-4.44;-4.4	5.34	5.34	0.76211	.	0.000000	0.56097	D	0.000022	D	0.98526	0.9508	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99349	1.0914	10	0.72032	D	0.01	-9.7621	19.4201	0.94719	0.0:0.0:1.0:0.0	.	3454	Q92736	RYR2_HUMAN	H	3454;3452;3438;409	ENSP00000355533:R3454H;ENSP00000353174:R3452H;ENSP00000443798:R3438H	ENSP00000353174:R3452H	R	+	2	0	RYR2	235947158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.633000	0.67825	2.667000	0.90743	0.655000	0.94253	CGC		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	20	0	0	0	0.000978	0	12	20				
ZP4	57829	broad.mit.edu	37	1	238051727	238051727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:238051727C>A	ENST00000366570.4	-	4	642	c.484G>T	c.(484-486)Gga>Tga	p.G162*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	162	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACAGTCTCCTCGAGAGATG	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(484-486)GGA>TGA		zona pellucida glycoprotein 4 preproprotein							129.0	114.0	119.0					1																	238051727		2203	4300	6503	SO:0001587	stop_gained	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238051727C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.484G>T	1.37:g.238051727C>A	ENSP00000355529:p.Gly162*					LOC100130331_uc010pyc.1_Intron	p.G162*	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	484	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	162			P-type.|Extracellular (Potential).		B2RAE1	Nonsense_Mutation	SNP	ENST00000366570.4	37	c.484G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428581	0.62844	.	.	ENSG00000116996	ENST00000366570	.	.	.	4.82	2.93	0.34026	.	0.487239	0.22223	N	0.062932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.0626	8.3457	0.32272	0.0:0.8062:0.0:0.1938	.	.	.	.	X	162	.	ENSP00000355529:G162X	G	-	1	0	ZP4	236118350	0.012000	0.17670	0.002000	0.10522	0.045000	0.14185	0.640000	0.24705	0.996000	0.38943	0.655000	0.94253	GGA		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			24	73	1	0	5.35356e-11	0.00278	7.54501e-11	24	73				
GREM2	64388	broad.mit.edu	37	1	240656527	240656527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:240656527G>T	ENST00000318160.4	-	2	515	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	83	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			AGCCCTCCTCGCTCACCGTCT	0.647																																							uc001hys.2		NA																	0					0						c.(247-249)AGC>AGA		gremlin 2 precursor							45.0	47.0	46.0					1																	240656527		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656527G>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.249C>A	1.37:g.240656527G>T	ENSP00000318650:p.Ser83Arg						p.S83R	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	529	-		all_cancers(173;0.0196)	83			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.249C>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	6.260	0.416022	0.11870	.	.	ENSG00000180875	ENST00000318160	T	0.29917	1.55	5.15	1.59	0.23543	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.41356	1.27	0.53688	D	0.999974	B	0.17268	0.021	B	0.17433	0.018	T	0.07385	-1.0775	10	0.20046	T	0.44	4.5498	2.9342	0.05809	0.1879:0.1543:0.5027:0.1552	.	83	Q9H772	GREM2_HUMAN	R	83	ENSP00000318650:S83R	ENSP00000318650:S83R	S	-	3	2	GREM2	238723150	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	0.166000	0.16583	0.508000	0.28173	0.557000	0.71058	AGC		0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		9	102	1	0	3.86212e-05	0.008291	4.48006e-05	9	102				
EXO1	9156	broad.mit.edu	37	1	242035504	242035504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:242035504A>T	ENST00000366548.3	+	12	2031	c.1438A>T	c.(1438-1440)Aga>Tga	p.R480*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.R480*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.R480*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	480	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACCTAGGACGAGAAATAAATT	0.398								Editing and processing nucleases																															uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1438-1440)AGA>TGA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							101.0	101.0	101.0					1																	242035504		2203	4300	6503	SO:0001587	stop_gained	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035504A>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1438A>T	1.37:g.242035504A>T	ENSP00000355506:p.Arg480*					EXO1_uc001hzi.2_Nonsense_Mutation_p.R480*|EXO1_uc001hzj.2_Nonsense_Mutation_p.R480*|EXO1_uc009xgq.2_Nonsense_Mutation_p.R479*	p.R480*	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	1978	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	480			Interaction with MLH1.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	c.1438A>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	39	7.590141	0.98378	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.94	4.79	0.61399	.	0.100209	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9266	13.1616	0.59547	0.8668:0.1332:0.0:0.0	.	.	.	.	X	480	.	ENSP00000311873:R480X	R	+	1	2	EXO1	240102127	0.990000	0.36364	0.778000	0.31720	0.281000	0.26958	3.052000	0.49893	1.037000	0.40024	0.455000	0.32223	AGA		0.398	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		28	119	0	0	0	0.004656	0	28	119				
CEP170	9859	broad.mit.edu	37	1	243327772	243327772	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:243327772G>A	ENST00000366542.1	-	13	3541	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	CEP170_ENST00000366543.1_Missense_Mutation_p.R1066C|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R1066C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1164	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAGTCACTACGAGCTGACAGT	0.458																																							uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3490-3492)CGT>TGT		centrosomal protein 170kDa isoform alpha							19.0	17.0	18.0					1																	243327772		1788	4034	5822	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243327772G>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3490C>T	1.37:g.243327772G>A	ENSP00000355500:p.Arg1164Cys					CEP170_uc001hzt.2_Missense_Mutation_p.R1066C|CEP170_uc001hzu.2_Missense_Mutation_p.R1066C|CEP170_uc001hzv.1_Missense_Mutation_p.R542C	p.R1164C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3898	-	all_neural(11;0.101)	all_cancers(173;0.003)	1164			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3490C>T	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466377	0.63625	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008;ENST00000413359	T;T;T	0.54675	0.59;0.56;0.6	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.995;0.996	T	0.67753	-0.5589	10	0.45353	T	0.12	-7.6693	16.758	0.85505	0.0:0.0:1.0:0.0	.	1127;1066;1066;1164	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	C	1164;1066;1066;125;9	ENSP00000355500:R1164C;ENSP00000355502:R1066C;ENSP00000355501:R1066C	ENSP00000355500:R1164C	R	-	1	0	CEP170	241394395	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.103000	0.94232	2.237000	0.73441	0.555000	0.69702	CGT		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		6	39	0	0	0	0.001368	0	6	39				
SDCCAG8	10806	broad.mit.edu	37	1	243652359	243652359	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:243652359C>G	ENST00000366541.3	+	17	2147	c.2029C>G	c.(2029-2031)Ctg>Gtg	p.L677V	AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L634V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L532V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	677	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGCCCAGCAGCTGGTGCAGCT	0.587																																							uc001hzw.2		NA																	0					0						c.(2029-2031)CTG>GTG		serologically defined colon cancer antigen 8							31.0	33.0	32.0					1																	243652359		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243652359C>G	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.2029C>G	1.37:g.243652359C>G	ENSP00000355499:p.Leu677Val					SDCCAG8_uc010pyk.1_Missense_Mutation_p.L532V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.L489V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.L410V|AKT3_uc001hzz.1_Intron	p.L677V	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	17	2185	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	677			Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.2029C>G	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162301	0.38217	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.41758	1.13;1.08;1.06;0.99	5.63	3.71	0.42584	.	0.670270	0.13818	N	0.360628	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	B;B	0.27765	0.031;0.188	B;B	0.28709	0.064;0.093	T	0.05022	-1.0911	10	0.33141	T	0.24	-2.0622	5.4443	0.16527	0.1742:0.66:0.0:0.1658	.	634;677	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	V	634;677;532;378	ENSP00000348137:L634V;ENSP00000355499:L677V;ENSP00000341260:L532V;ENSP00000410200:L378V	ENSP00000341260:L532V	L	+	1	2	SDCCAG8	241718982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.140000	0.31516	0.669000	0.31146	0.650000	0.86243	CTG		0.587	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		4	41	0	0	0	0.001168	0	4	41				
ADSS	159	broad.mit.edu	37	1	244574692	244574692	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:244574692G>A	ENST00000366535.3	-	12	1531	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TCCATCCTGGGAGAGTCTTAT	0.343																																							uc001iaj.2		NA																	0				ovary(2)|kidney(1)	3						c.(1213-1215)CTC>CTT		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						138.0	137.0	137.0					1																	244574692		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244574692G>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1215C>T	1.37:g.244574692G>A							p.L405L	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		12	1509	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	405						Silent	SNP	ENST00000366535.3	37	c.1215C>T	CCDS1624.1																																																																																				0.343	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		18	167	0	0	0	0.006122	0	18	167				
ZNF496	84838	broad.mit.edu	37	1	247463969	247463969	+	Missense_Mutation	SNP	C	C	A	rs144745098		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:247463969C>A	ENST00000294753.4	-	9	2080	c.1616G>T	c.(1615-1617)cGg>cTg	p.R539L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R575L|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	539					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGCGGTGCCGAGCCAGGTG	0.612																																							uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1615-1617)CGG>CTG		zinc finger protein 496							74.0	76.0	75.0					1																	247463969		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463969C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1616G>T	1.37:g.247463969C>A	ENSP00000294753:p.Arg539Leu					ZNF496_uc009xgv.2_Missense_Mutation_p.R575L|ZNF496_uc001icp.2_Missense_Mutation_p.R539L	p.R539L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2081	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		539			C2H2-type 4.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1616G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267541	0.40095	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.28454	1.61;1.61	4.5	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276731	0.26000	N	0.026954	T	0.34716	0.0907	L	0.31578	0.945	0.27217	N	0.959768	D;P	0.65815	0.995;0.924	P;P	0.60682	0.878;0.591	T	0.04825	-1.0924	10	0.31617	T	0.26	-36.7622	10.3358	0.43850	0.0:0.901:0.0:0.099	.	575;539	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	539;575	ENSP00000294753:R539L;ENSP00000355454:R575L	ENSP00000294753:R539L	R	-	2	0	ZNF496	245530592	0.000000	0.05858	0.674000	0.29902	0.104000	0.19210	-0.777000	0.04669	2.492000	0.84095	0.655000	0.94253	CGG		0.612	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		13	119	1	0	4.36969e-10	0.001855	5.95795e-10	13	119				
NLRP3	114548	broad.mit.edu	37	1	247582226	247582226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:247582226G>T	ENST00000336119.3	+	1	876	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	NLRP3_ENST00000366497.2_Missense_Mutation_p.G44C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.G44C|NLRP3_ENST00000391827.2_Missense_Mutation_p.G44C|NLRP3_ENST00000366496.2_Missense_Mutation_p.G44C|NLRP3_ENST00000348069.2_Missense_Mutation_p.G44C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	44	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTCCCGAGGGGTCAGACAGA	0.567																																							uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(130-132)GGT>TGT		NLR family, pyrin domain containing 3 isoform a							57.0	50.0	52.0					1																	247582226		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582226G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.130G>T	1.37:g.247582226G>T	ENSP00000337383:p.Gly44Cys					NLRP3_uc001ics.2_Missense_Mutation_p.G44C|NLRP3_uc001icu.2_Missense_Mutation_p.G44C|NLRP3_uc001icw.2_Missense_Mutation_p.G44C|NLRP3_uc001icv.2_Missense_Mutation_p.G44C|NLRP3_uc010pyw.1_Missense_Mutation_p.G42C|NLRP3_uc001ict.1_Missense_Mutation_p.G42C	p.G44C	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	268	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	44			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.130G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579889	0.46006	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	4.49	3.54	0.40534	Pyrin (2);DEATH-like (2);	0.386547	0.22603	N	0.057933	T	0.59032	0.2164	L	0.55990	1.75	0.32111	N	0.589349	D;D;D;D;D	0.89917	0.999;0.992;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.972;0.898;0.999;0.999;0.999	T	0.64445	-0.6406	10	0.52906	T	0.07	.	7.8314	0.29344	0.12:0.0:0.88:0.0	.	44;44;44;44;44	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	44	ENSP00000375704:G44C;ENSP00000355453:G44C;ENSP00000337383:G44C;ENSP00000294752:G44C;ENSP00000355452:G44C;ENSP00000375703:G44C	ENSP00000337383:G44C	G	+	1	0	NLRP3	245648849	0.109000	0.22037	0.755000	0.31263	0.571000	0.35966	0.599000	0.24089	1.185000	0.42971	0.561000	0.74099	GGT		0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	47	1	0	0.000157383	0.00308	0.000177645	8	47				
TRIM58	25893	broad.mit.edu	37	1	248039487	248039487	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248039487T>A	ENST00000366481.3	+	6	1205	c.1157T>A	c.(1156-1158)cTg>cAg	p.L386Q	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	386	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCTGTGGCTGCTGAAAGGG	0.547																																							uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1156-1158)CTG>CAG		tripartite motif-containing 58							120.0	122.0	121.0					1																	248039487		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039487T>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1157T>A	1.37:g.248039487T>A	ENSP00000355437:p.Leu386Gln					OR2W3_uc001idp.1_Intron	p.L386Q	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1205	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	386			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1157T>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097194	0.76870	.	.	ENSG00000162722	ENST00000366481	T	0.63913	-0.07	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.44688	D	0.000427	T	0.78698	0.4324	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81879	-0.0730	10	0.87932	D	0	.	11.636	0.51204	0.0:0.0:0.0:1.0	.	386	Q8NG06	TRI58_HUMAN	Q	386	ENSP00000355437:L386Q	ENSP00000355437:L386Q	L	+	2	0	TRIM58	246106110	0.966000	0.33281	0.912000	0.35992	0.833000	0.47200	7.246000	0.78247	2.071000	0.62044	0.528000	0.53228	CTG		0.547	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		68	113	0	0	0	0.00361	0	68	113				
OR2M5	127059	broad.mit.edu	37	1	248308625	248308625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248308625T>C	ENST00000366476.1	+	1	176	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACACCCCCATGTACTTCCTC	0.512																																							uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(175-177)ATG>ACG		olfactory receptor, family 2, subfamily M,							330.0	311.0	318.0					1																	248308625		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308625T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.176T>C	1.37:g.248308625T>C	ENSP00000355432:p.Met59Thr						p.M59T	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	176	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		59			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.176T>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.909432	0.33721	.	.	ENSG00000162727	ENST00000366476	T	0.09817	2.94	3.28	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	U	0.001631	T	0.35711	0.0941	H	0.95850	3.73	0.25768	N	0.984866	D	0.63046	0.992	P	0.57009	0.811	T	0.37572	-0.9700	10	0.72032	D	0.01	.	9.1735	0.37098	0.0:0.0:0.1845:0.8154	.	59	A3KFT3	OR2M5_HUMAN	T	59	ENSP00000355432:M59T	ENSP00000355432:M59T	M	+	2	0	OR2M5	246375248	1.000000	0.71417	0.360000	0.25837	0.365000	0.29674	4.064000	0.57506	0.251000	0.21505	0.403000	0.27427	ATG		0.512	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		55	545	0	0	0	0.00361	0	55	545				
OR2T4	127074	broad.mit.edu	37	1	248525180	248525180	+	Missense_Mutation	SNP	C	C	T	rs142091573		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248525180C>T	ENST00000366475.1	+	1	298	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAATTGTCTCTCATGGACAT	0.502													c|||	1	0.000199681	0.0	0.0014	5008	,	,		24956	0.0		0.0	False		,,,				2504	0.0						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(298-300)CTC>TTC		olfactory receptor, family 2, subfamily T,		C	PHE/LEU	0,4406		0,0,2203	361.0	257.0	292.0		298	-0.8	0.5	1	dbSNP_134	292	15,8585	11.2+/-40.8	0,15,4285	no	missense	OR2T4	NM_001004696.1	22	0,15,6488	TT,TC,CC		0.1744,0.0,0.1153	possibly-damaging	100/349	248525180	15,12991	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525180C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.298C>T	1.37:g.248525180C>T	ENSP00000355431:p.Leu100Phe						p.L100F	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	298	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		100			Helical; Name=2; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.298C>T	CCDS31113.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.561	0.877726	0.17395	0.0	0.001744	ENSG00000196944	ENST00000366475	T	0.00363	7.82	3.48	-0.834	0.10779	GPCR, rhodopsin-like superfamily (1);	0.172440	0.27856	N	0.017570	T	0.00178	0.0005	N	0.12853	0.265	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.34950	-0.9808	10	0.36615	T	0.2	.	8.8002	0.34905	0.0:0.5519:0.0:0.4481	.	100	Q8NH00	OR2T4_HUMAN	F	100	ENSP00000355431:L100F	ENSP00000355431:L100F	L	+	1	0	OR2T4	246591803	0.002000	0.14202	0.531000	0.27976	0.979000	0.70002	-0.126000	0.10563	0.028000	0.15324	0.485000	0.47835	CTC		0.502	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		23	323	0	0	0	0.001882	0	23	323				
SFMBT2	57713	broad.mit.edu	37	10	7262394	7262394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:7262394G>T	ENST00000361972.4	-	11	1399	c.1309C>A	c.(1309-1311)Cta>Ata	p.L437I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L437I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	437					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCCACATTAGCCGCCCCTTC	0.532																																							uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1309-1311)CTA>ATA		Scm-like with four mbt domains 2							242.0	229.0	233.0					10																	7262394		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262394G>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1309C>A	10.37:g.7262394G>T	ENSP00000355109:p.Leu437Ile					SFMBT2_uc001ijn.1_Missense_Mutation_p.L437I|SFMBT2_uc010qay.1_Intron	p.L437I	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			11	1400	-			437			MBT 4.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1309C>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823429	0.50739	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.4	-8.33	0.00992	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.76433	2.335	0.29968	N	0.818797	D	0.76494	0.999	D	0.83275	0.996	T	0.67753	-0.5589	10	0.30854	T	0.27	.	18.1176	0.89561	0.8294:0.0:0.1706:0.0	.	437	Q5VUG0	SMBT2_HUMAN	I	437	ENSP00000355109:L437I;ENSP00000380353:L437I	ENSP00000355109:L437I	L	-	1	2	SFMBT2	7302400	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.885000	0.04161	-1.779000	0.01280	-0.471000	0.05019	CTA		0.532	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		41	228	1	0	1.59932e-28	0.007835	2.73444e-28	41	228				
TAF3	83860	broad.mit.edu	37	10	8007650	8007650	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:8007650A>G	ENST00000344293.5	+	3	2383	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	726	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agagagaaagagaagagagag	0.383																																							uc010qbd.1		NA																	0				ovary(1)	1						c.(2176-2178)GAG>GGG		RNA polymerase II transcription factor TAFII140							20.0	20.0	20.0					10																	8007650		1846	4074	5920	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007650A>G	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2177A>G	10.37:g.8007650A>G	ENSP00000340271:p.Glu726Gly						p.E726G	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	2177	+			726			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2177A>G	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784214	0.49997	.	.	ENSG00000165632	ENST00000344293	T	0.19250	2.16	5.83	5.83	0.93111	.	0.665495	0.14060	N	0.344133	T	0.48390	0.1497	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36601	-0.9741	10	0.56958	D	0.05	-38.6109	15.8744	0.79151	1.0:0.0:0.0:0.0	.	726	Q5VWG9	TAF3_HUMAN	G	726	ENSP00000340271:E726G	ENSP00000340271:E726G	E	+	2	0	TAF3	8047656	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	8.730000	0.91510	2.235000	0.73313	0.533000	0.62120	GAG		0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		9	36	0	0	0	0.004482	0	9	36				
FAM171A1	221061	broad.mit.edu	37	10	15256244	15256244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:15256244G>T	ENST00000378116.4	-	8	1349	c.1343C>A	c.(1342-1344)aCt>aAt	p.T448N	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	448						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCACTTGGAGTGAGGTTATC	0.502																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1342-1344)ACT>AAT		hypothetical protein LOC221061 precursor							51.0	52.0	52.0					10																	15256244		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15256244G>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1343C>A	10.37:g.15256244G>T	ENSP00000367356:p.Thr448Asn						p.T448N	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	1350	-			448			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.1343C>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994522	0.35226	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.35048	1.33	5.25	5.25	0.73442	.	0.107337	0.64402	D	0.000004	T	0.52092	0.1713	L	0.42245	1.32	0.58432	D	0.999992	D	0.69078	0.997	D	0.65323	0.934	T	0.44498	-0.9324	10	0.44086	T	0.13	-22.846	19.0487	0.93032	0.0:0.0:1.0:0.0	.	448	Q5VUB5	F1711_HUMAN	N	448;449	ENSP00000367356:T448N	ENSP00000367356:T448N	T	-	2	0	FAM171A1	15296250	1.000000	0.71417	0.961000	0.40146	0.196000	0.23810	6.222000	0.72249	2.724000	0.93272	0.563000	0.77884	ACT		0.502	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		9	63	1	0	0.00448238	0.004482	0.00474679	9	63				
ARHGAP21	57584	broad.mit.edu	37	10	24878202	24878202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:24878202T>C	ENST00000396432.2	-	25	4666	c.4180A>G	c.(4180-4182)Aag>Gag	p.K1394E	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1393					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAATTTACCTTAGATTTTGTT	0.318																																							uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.(4180-4182)AAG>GAG		Rho GTPase activating protein 21							67.0	74.0	72.0					10																	24878202		2202	4299	6501	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24878202T>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4180A>G	10.37:g.24878202T>C	ENSP00000379709:p.Lys1394Glu					ARHGAP21_uc010qdb.1_RNA	p.K1394E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			25	4667	-			1393					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4180A>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888128	0.91814	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000418033	T	0.14640	2.49	5.77	5.77	0.91146	.	0.046527	0.85682	D	0.000000	T	0.32615	0.0835	M	0.78637	2.42	0.80722	D	1	D	0.54964	0.969	P	0.53593	0.73	T	0.07424	-1.0773	10	0.72032	D	0.01	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	1393	Q5T5U3	RHG21_HUMAN	E	1394;843;172	ENSP00000379709:K1394E	ENSP00000379709:K1394E	K	-	1	0	ARHGAP21	24918208	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.492000	0.81482	2.326000	0.78906	0.533000	0.62120	AAG		0.318	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		18	49	0	0	0	0.010504	0	18	49				
GPR158	57512	broad.mit.edu	37	10	25887785	25887785	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:25887785A>C	ENST00000376351.3	+	11	3589	c.3230A>C	c.(3229-3231)cAa>cCa	p.Q1077P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1077					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGAGAGCCAAGGCCAGTCC	0.493																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3229-3231)CAA>CCA		G protein-coupled receptor 158 precursor							96.0	99.0	98.0					10																	25887785		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887785A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3230A>C	10.37:g.25887785A>C	ENSP00000365529:p.Gln1077Pro					GPR158_uc001isk.2_Missense_Mutation_p.Q452P	p.Q1077P	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3290	+			1077			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3230A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	1.153	-0.646004	0.03531	.	.	ENSG00000151025	ENST00000376351	T	0.30448	1.53	5.37	1.23	0.21249	.	0.406158	0.25704	N	0.028849	T	0.19287	0.0463	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.19910	-1.0291	10	0.42905	T	0.14	.	13.9442	0.64075	0.6287:0.3713:0.0:0.0	.	1077	Q5T848	GP158_HUMAN	P	1077	ENSP00000365529:Q1077P	ENSP00000365529:Q1077P	Q	+	2	0	GPR158	25927791	0.996000	0.38824	0.023000	0.16930	0.005000	0.04900	1.997000	0.40786	0.306000	0.22856	0.533000	0.62120	CAA		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	109	0	0	0	0.004656	0	24	109				
GPR158	57512	broad.mit.edu	37	10	25887787	25887787	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:25887787G>C	ENST00000376351.3	+	11	3591	c.3232G>C	c.(3232-3234)Ggc>Cgc	p.G1078R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1078					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAGCCAAGGCCAGTCCAT	0.493																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3232-3234)GGC>CGC		G protein-coupled receptor 158 precursor							96.0	99.0	98.0					10																	25887787		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887787G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3232G>C	10.37:g.25887787G>C	ENSP00000365529:p.Gly1078Arg					GPR158_uc001isk.2_Missense_Mutation_p.G453R	p.G1078R	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3292	+			1078			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3232G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647029	0.03506	.	.	ENSG00000151025	ENST00000376351	T	0.34472	1.36	5.37	3.5	0.40072	.	0.652897	0.15377	N	0.265511	T	0.25158	0.0611	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.16958	-1.0385	10	0.19147	T	0.46	.	12.4479	0.55662	0.1382:0.0:0.8618:0.0	.	1078	Q5T848	GP158_HUMAN	R	1078	ENSP00000365529:G1078R	ENSP00000365529:G1078R	G	+	1	0	GPR158	25927793	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	3.861000	0.56002	0.617000	0.30160	-0.123000	0.14984	GGC		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	109	0	0	0	0.005443	0	24	109				
GAD2	2572	broad.mit.edu	37	10	26558096	26558096	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:26558096A>G	ENST00000376261.3	+	9	1472	c.969A>G	c.(967-969)aaA>aaG	p.K323K	GAD2_ENST00000259271.3_Silent_p.K323K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	323					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGAAGCCAAACAGAAAGTAA	0.358																																							uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(967-969)AAA>AAG		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						74.0	77.0	76.0					10																	26558096		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26558096A>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.969A>G	10.37:g.26558096A>G						GAD2_uc001isq.2_Silent_p.K323K	p.K323K	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			9	1472	+			323					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.969A>G	CCDS7149.1																																																																																				0.358	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		15	68	0	0	0	0.00499	0	15	68				
ACBD5	91452	broad.mit.edu	37	10	27497332	27497332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:27497332T>A	ENST00000375888.1	-	10	1338	c.1274A>T	c.(1273-1275)cAg>cTg	p.Q425L	ACBD5_ENST00000396271.3_Missense_Mutation_p.Q416L|ACBD5_ENST00000375897.3_Missense_Mutation_p.Q239L|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q381L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q307L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	425					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACTTCCCACCTGCCGGCCCTT	0.507																																							uc010qdp.1		NA																	0					0						c.(1246-1248)CAG>CTG		acyl-Coenzyme A binding domain containing 5							81.0	76.0	78.0					10																	27497332		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497332T>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1274A>T	10.37:g.27497332T>A	ENSP00000365049:p.Gln425Leu					ACBD5_uc010qdm.1_Missense_Mutation_p.Q414L|ACBD5_uc010qdn.1_Missense_Mutation_p.Q307L|ACBD5_uc010qdo.1_Missense_Mutation_p.Q239L|ACBD5_uc001ito.2_Missense_Mutation_p.Q381L|ACBD5_uc001itp.2_Missense_Mutation_p.Q307L|ACBD5_uc001itq.2_Missense_Mutation_p.Q307L|ACBD5_uc001itr.1_Missense_Mutation_p.Q205L	p.Q416L	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			10	1438	-			425					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.1247A>T		.	.	.	.	.	.	.	.	.	.	T	24.3	4.521801	0.85600	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.83075	-1.68;2.13;1.38;1.39;2.39	5.63	5.63	0.86233	.	0.325994	0.37530	N	0.002060	D	0.88930	0.6571	M	0.64997	1.995	0.42308	D	0.9922	D;D;D;D	0.63046	0.985;0.992;0.975;0.975	P;D;P;P	0.64042	0.888;0.921;0.776;0.776	D	0.89220	0.3570	10	0.49607	T	0.09	-12.5076	16.1324	0.81449	0.0:0.0:0.0:1.0	.	416;239;414;425	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	L	422;416;381;307;239;425	ENSP00000379568:Q416L;ENSP00000365070:Q381L;ENSP00000365066:Q307L;ENSP00000365062:Q239L;ENSP00000365049:Q425L	ENSP00000365049:Q425L	Q	-	2	0	ACBD5	27537338	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	3.751000	0.55165	2.261000	0.74972	0.477000	0.44152	CAG		0.507	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		29	56	0	0	0	0.009535	0	29	56				
WAC	51322	broad.mit.edu	37	10	28884908	28884908	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:28884908C>G	ENST00000354911.4	+	7	1018	c.857C>G	c.(856-858)tCt>tGt	p.S286C	WAC_ENST00000347934.4_Intron|WAC_ENST00000375646.1_Intron|WAC_ENST00000375664.4_Missense_Mutation_p.S241C|WAC_ENST00000428935.1_Missense_Mutation_p.S241C	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	286					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AATGGAGCATCTACTTTATCA	0.423																																							uc001iuf.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(856-858)TCT>TGT		WW domain-containing adapter with a coiled-coil							122.0	111.0	115.0					10																	28884908		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28884908C>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.857C>G	10.37:g.28884908C>G	ENSP00000346986:p.Ser286Cys					WAC_uc001iud.2_Missense_Mutation_p.S241C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S241C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S241C	p.S286C	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			7	942	+			286					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.857C>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568301	0.65651	.	.	ENSG00000095787	ENST00000375664;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T	0.34859	1.8;1.79;1.34	5.41	5.41	0.78517	.	0.313796	0.35124	N	0.003435	T	0.50531	0.1621	L	0.34521	1.04	0.40231	D	0.977844	D;D	0.71674	0.998;0.997	D;P	0.67231	0.95;0.892	T	0.52298	-0.8594	10	0.59425	D	0.04	-2.7951	19.1796	0.93617	0.0:1.0:0.0:0.0	.	241;286	Q9BTA9-2;Q9BTA9	.;WAC_HUMAN	C	241;286;241;241;241	ENSP00000364816:S241C;ENSP00000346986:S286C;ENSP00000399706:S241C	ENSP00000346986:S286C	S	+	2	0	WAC	28924914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.166000	0.58203	2.533000	0.85409	0.555000	0.69702	TCT		0.423	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		29	85	0	0	0	0.00632	0	29	85				
ZEB1	6935	broad.mit.edu	37	10	31815707	31815707	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:31815707A>T	ENST00000320985.10	+	9	3000	c.2890A>T	c.(2890-2892)Aaa>Taa	p.K964*	ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K897*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K944*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.K948*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K965*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	964					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAATGTGACAAATGTGGAAA	0.413																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(2890-2892)AAA>TAA		zinc finger E-box binding homeobox 1 isoform b							104.0	90.0	95.0					10																	31815707		2203	4300	6503	SO:0001587	stop_gained	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815707A>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2890A>T	10.37:g.31815707A>T	ENSP00000319248:p.Lys964*					ZEB1_uc001ivr.3_Nonsense_Mutation_p.K746*|ZEB1_uc010qee.1_Nonsense_Mutation_p.K746*|ZEB1_uc010qef.1_Nonsense_Mutation_p.K746*|ZEB1_uc001ivt.3_Nonsense_Mutation_p.K746*|ZEB1_uc001ivu.3_Nonsense_Mutation_p.K965*|ZEB1_uc001ivv.3_Nonsense_Mutation_p.K944*|ZEB1_uc010qeh.1_Nonsense_Mutation_p.K897*|ZEB1_uc009xlp.2_Nonsense_Mutation_p.K948*	p.K964*	NM_030751	NP_110378	P37275	ZEB1_HUMAN			9	2953	+		Prostate(175;0.0156)	964			C2H2-type 7; atypical.		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	ENST00000320985.10	37	c.2890A>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	38	7.107222	0.98066	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.18	5.18	0.71444	.	0.410865	0.23032	N	0.052726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.803	15.0122	0.71557	1.0:0.0:0.0:0.0	.	.	.	.	X	746;964;965;959;897;964;944;855;948	.	ENSP00000319248:K964X	K	+	1	0	ZEB1	31855713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	1.970000	0.57323	0.477000	0.44152	AAA		0.413	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	54	0	0	0	0.000978	0	12	54				
EPC1	80314	broad.mit.edu	37	10	32594782	32594782	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:32594782T>A	ENST00000263062.8	-	2	500	c.231A>T	c.(229-231)ccA>ccT	p.P77P	EPC1_ENST00000375110.2_Silent_p.P27P|EPC1_ENST00000319778.6_Silent_p.P77P	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	77					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTCTGCCTCTGGGACCGGTA	0.403																																							uc001iwg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(229-231)CCA>CCT		enhancer of polycomb 1							114.0	108.0	110.0					10																	32594782		2203	4300	6503	SO:0001819	synonymous_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32594782T>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.231A>T	10.37:g.32594782T>A						EPC1_uc001iwi.3_Silent_p.P27P|EPC1_uc009xlt.2_Silent_p.P27P|EPC1_uc001iwh.1_Silent_p.P77P	p.P77P	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			2	501	-		Prostate(175;0.0199)	77					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	c.231A>T	CCDS7172.1																																																																																				0.403	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			17	43	0	0	0	0.00499	0	17	43				
ZNF33A	7581	broad.mit.edu	37	10	38344699	38344699	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:38344699G>A	ENST00000458705.2	+	5	1802	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	ZNF33A_ENST00000432900.2_Silent_p.G555G|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Silent_p.G549G|ZNF33A_ENST00000307441.9_Silent_p.G548G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	548					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CACACACAGGGCAGAAACCCT	0.428																																							uc001izh.2		NA																	0				ovary(2)|skin(1)	3						c.(1642-1644)GGG>GGA		zinc finger protein 33A isoform b							101.0	103.0	102.0					10																	38344699		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344699G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1644G>A	10.37:g.38344699G>A						ZNF33A_uc001izg.2_Silent_p.G549G|ZNF33A_uc010qev.1_Silent_p.G555G|ZNF33A_uc001izi.1_Intron	p.G548G	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1822	+			548					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.1644G>A	CCDS31182.1																																																																																				0.428	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		10	127	0	0	0	0.000978	0	10	127				
BMS1	9790	broad.mit.edu	37	10	43326451	43326451	+	Missense_Mutation	SNP	G	G	C	rs537838291		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:43326451G>C	ENST00000374518.5	+	23	3819	c.3756G>C	c.(3754-3756)aaG>aaC	p.K1252N	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1252					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGGCAGAAGGACCTCAGGA	0.527																																							uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3754-3756)AAG>AAC		BMS1-like, ribosome assembly protein							41.0	32.0	35.0					10																	43326451		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43326451G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3756G>C	10.37:g.43326451G>C	ENSP00000363642:p.Lys1252Asn						p.K1252N	NM_014753	NP_055568	Q14692	BMS1_HUMAN			23	4114	+			1252					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3756G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.842066	0.71488	.	.	ENSG00000165733	ENST00000374518	T	0.26067	1.76	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.93638	3.44	0.54753	D	0.999982	D	0.76494	0.999	D	0.78314	0.991	T	0.65809	-0.6078	10	0.87932	D	0	.	9.4699	0.38835	0.1577:0.0:0.8423:0.0	.	1252	Q14692	BMS1_HUMAN	N	1252	ENSP00000363642:K1252N	ENSP00000363642:K1252N	K	+	3	2	BMS1	42646457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.669000	0.46825	2.395000	0.81488	0.462000	0.41574	AAG		0.527	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	16	0	0	0	0.001168	0	4	16				
CSGALNACT2	55454	broad.mit.edu	37	10	43678731	43678731	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:43678731G>C	ENST00000374466.3	+	8	1705	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	457					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTTGGGGTGGAGAAGATGTT	0.408																																							uc001jan.2		NA																	0				ovary(1)	1						c.(1369-1371)GGA>GCA		chondroitin sulfate							138.0	137.0	137.0					10																	43678731		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678731G>C	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1370G>C	10.37:g.43678731G>C	ENSP00000363590:p.Gly457Ala						p.G457A	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			8	1705	+			457			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.1370G>C	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618721	0.46736	.	.	ENSG00000169826	ENST00000374466	T	0.38887	1.11	5.87	5.87	0.94306	.	0.107337	0.64402	D	0.000006	T	0.44705	0.1306	M	0.78344	2.41	0.80722	D	1	P	0.35684	0.515	B	0.37387	0.248	T	0.35425	-0.9789	10	0.07813	T	0.8	-23.6464	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	457	Q8N6G5	CGAT2_HUMAN	A	457	ENSP00000363590:G457A	ENSP00000363590:G457A	G	+	2	0	CSGALNACT2	42998737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.601000	0.61090	2.941000	0.99782	0.655000	0.94253	GGA		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		24	164	0	0	0	0.004656	0	24	164				
DRGX	644168	broad.mit.edu	37	10	50594820	50594820	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:50594820C>A	ENST00000374139.2	-	4	329	c.319G>T	c.(319-321)Gca>Tca	p.A107S	DRGX_ENST00000434016.1_Missense_Mutation_p.A112S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	107					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCACCTCTGCCATGGGCTCC	0.607																																							uc010qgq.1		NA																	0					0						c.(334-336)GCA>TCA		dorsal root ganglia homeobox							146.0	158.0	154.0					10																	50594820		2011	4178	6189	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50594820C>A		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.319G>T	10.37:g.50594820C>A	ENSP00000363254:p.Ala107Ser						p.A112S	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			4	334	-			112						Missense_Mutation	SNP	ENST00000374139.2	37	c.334G>T		.	.	.	.	.	.	.	.	.	.	C	8.813	0.935660	0.18206	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91295	-2.82;-2.78	5.59	3.47	0.39725	.	0.356706	0.32473	N	0.006044	T	0.77226	0.4099	N	0.08118	0	0.32362	N	0.557015	B	0.06786	0.001	B	0.11329	0.006	T	0.72080	-0.4398	10	0.26408	T	0.33	.	6.5975	0.22683	0.0:0.5362:0.3282:0.1356	.	112	C9JW76	.	S	107;112	ENSP00000363254:A107S;ENSP00000401653:A112S	ENSP00000363254:A107S	A	-	1	0	DRGX	50264826	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.466000	0.35310	1.329000	0.45376	0.655000	0.94253	GCA		0.607	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		32	93	1	0	1.45844e-13	0.002836	2.16469e-13	32	93				
PRKG1	5592	broad.mit.edu	37	10	54041979	54041979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:54041979G>T	ENST00000401604.2	+	14	1761	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E511*|PRKG1_ENST00000373980.4_Nonsense_Mutation_p.E538*|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E241*			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGGGACTCCAGAGTATGTAGC	0.418																																							uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1567-1569)GAG>TAG		protein kinase, cGMP-dependent, type I isoform							103.0	101.0	102.0					10																	54041979		2203	4300	6503	SO:0001587	stop_gained	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54041979G>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1567G>T	10.37:g.54041979G>T	ENSP00000384200:p.Glu523*					PRKG1_uc001jjo.2_Nonsense_Mutation_p.E538*|PRKG1_uc009xow.1_Nonsense_Mutation_p.E241*|uc001jjq.1_Intron	p.E523*	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	14	1761	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	523			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Nonsense_Mutation	SNP	ENST00000401604.2	37	c.1567G>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	40	8.467758	0.98825	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	.	.	.	5.49	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.4815	16.2057	0.82126	0.0:0.1337:0.8663:0.0	.	.	.	.	X	523;511;538;241;135	.	ENSP00000327642:E241X	E	+	1	0	PRKG1	53711985	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.805000	0.99149	1.424000	0.47217	0.563000	0.77884	GAG		0.418	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	44	1	0	3.1745e-13	0.008361	4.66583e-13	30	44				
RUFY2	55680	broad.mit.edu	37	10	70123383	70123383	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:70123383T>C	ENST00000602465.1	-	15	1614	c.1514A>G	c.(1513-1515)gAg>gGg	p.E505G	RUFY2_ENST00000388768.2_Missense_Mutation_p.E540G|RUFY2_ENST00000265865.3_Missense_Mutation_p.E95G			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	554						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAGAGCTTGCTCTTGTTCATG	0.328																																							uc001job.2		NA																	0				ovary(1)	1						c.(1618-1620)GAG>GGG		RUN and FYVE domain-containing 2 isoform a							58.0	51.0	53.0					10																	70123383		1815	4082	5897	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70123383T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1514A>G	10.37:g.70123383T>C	ENSP00000473462:p.Glu505Gly					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Missense_Mutation_p.E95G	p.E540G	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			15	1946	-			554			Potential.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1619A>G		.	.	.	.	.	.	.	.	.	.	T	18.32	3.598364	0.66332	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.74421	0.34;-0.84	5.83	5.83	0.93111	.	0.270856	0.42053	D	0.000765	D	0.85292	0.5663	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.968	D	0.86221	0.1631	10	0.54805	T	0.06	.	14.4192	0.67171	0.0:0.0:0.0:1.0	.	540;554	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	G	540;95	ENSP00000373420:E540G;ENSP00000265865:E95G	ENSP00000265865:E95G	E	-	2	0	RUFY2	69793389	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.630000	0.74272	2.217000	0.71921	0.528000	0.53228	GAG		0.328	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		5	14	0	0	0	0.001168	0	5	14				
PTEN	5728	broad.mit.edu	37	10	89653807	89653807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:89653807G>T	ENST00000371953.3	+	2	1462	c.105G>T	c.(103-105)atG>atT	p.M35I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	35	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		M -> R (in CWS1). {ECO:0000269|PubMed:9425889}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTGCTATGGGATTTCCTG	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Deletion - In frame(1)	p.?(4)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.A34_G36del(1)|p.M35R(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(103-105)ATG>ATT		phosphatase and tensin homolog							108.0	108.0	108.0					10																	89653807		2203	4295	6498	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653807G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.105G>T	10.37:g.89653807G>T	ENSP00000361021:p.Met35Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.M35I	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1136	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	35		M -> R (in CD).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.105G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093435	0.94149	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	M	0.81682	2.555	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	D	0.99521	1.0958	9	.	.	.	-8.1207	17.4682	0.87639	0.0:0.0:1.0:0.0	.	35	P60484	PTEN_HUMAN	I	35	ENSP00000361021:M35I	.	M	+	3	0	PTEN	89643787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	ATG		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		18	51	1	0	2.48551e-13	0.00499	3.66029e-13	18	51				
MYOF	26509	broad.mit.edu	37	10	95168668	95168668	+	Missense_Mutation	SNP	C	C	T	rs555479300		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:95168668C>T	ENST00000359263.4	-	7	604	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H|MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000371501.4_Missense_Mutation_p.R202H	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACTCGGACGCGGATCTGCAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21912	0.0		0.0	False		,,,				2504	0.001						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(604-606)CGC>CAC		myoferlin isoform a							122.0	109.0	114.0					10																	95168668		1989	4184	6173	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95168668C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.605G>A	10.37:g.95168668C>T	ENSP00000352208:p.Arg202His					MYOF_uc001kio.2_Missense_Mutation_p.R202H|MYOF_uc001kip.3_Missense_Mutation_p.R202H|MYOF_uc009xuf.2_Missense_Mutation_p.R184H	p.R202H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			7	728	-			202			C2 2.|Cytoplasmic (Potential).|Necessary for interaction with EHD2.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.605G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840251	0.91117	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.31	5.31	0.75309	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.88174	0.2866	10	0.87932	D	0	-11.8342	19.1959	0.93689	0.0:1.0:0.0:0.0	.	184;202;202	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	H	202	ENSP00000351094:R202H;ENSP00000352208:R202H;ENSP00000360556:R202H;ENSP00000360557:R202H;ENSP00000360544:R202H	ENSP00000351094:R202H	R	-	2	0	MYOF	95158658	1.000000	0.71417	0.973000	0.42090	0.513000	0.34164	7.605000	0.82844	2.771000	0.95319	0.645000	0.84053	CGC		0.507	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		10	79	0	0	0	0.000978	0	10	79				
POLL	27343	broad.mit.edu	37	10	103345895	103345895	+	Missense_Mutation	SNP	C	C	A	rs141683033	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:103345895C>A	ENST00000370162.3	-	3	628	c.134G>T	c.(133-135)cGg>cTg	p.R45L	DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R45L|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.R45L|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370158.3_Intron|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000370147.1_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	45	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AACATGGGCCCGAAGGGAGCT	0.537								DNA polymerases (catalytic subunits)																															uc001ktg.1		NA																	0					0						c.(133-135)CGG>CTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							33.0	33.0	33.0					10																	103345895		2203	4299	6502	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345895C>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.134G>T	10.37:g.103345895C>A	ENSP00000359181:p.Arg45Leu					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.R45L|POLL_uc001ktj.1_Missense_Mutation_p.R45L|POLL_uc001ktf.2_Missense_Mutation_p.R45L|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.R45L|POLL_uc001ktl.2_5'UTR|POLL_uc010qqc.1_5'UTR|POLL_uc010qqd.1_5'UTR|DPCD_uc001ktn.2_5'Flank	p.R45L	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	2	900	-		Colorectal(252;0.234)	45			BRCT.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.134G>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167428	0.38315	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.59	2.34	0.29019	BRCT (2);	0.257891	0.38897	N	0.001540	T	0.35248	0.0925	L	0.56769	1.78	0.09310	N	0.999996	B;B	0.31026	0.203;0.304	B;B	0.26416	0.044;0.069	T	0.09015	-1.0694	10	0.10902	T	0.67	-9.291	0.8565	0.01183	0.1429:0.2724:0.2298:0.3549	.	45;45	Q9UGP5;A8K860	DPOLL_HUMAN;.	L	45;45;45;45;45;45;56;45;45	ENSP00000299206:R45L;ENSP00000359188:R45L;ENSP00000359181:R45L;ENSP00000400676:R45L;ENSP00000411678:R56L;ENSP00000400517:R45L;ENSP00000414293:R45L	ENSP00000299206:R45L	R	-	2	0	POLL	103335885	.	.	0.998000	0.56505	0.998000	0.95712	.	.	0.729000	0.32403	0.561000	0.74099	CGG		0.537	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		7	43	1	0	0.000673444	0.008291	0.000735908	7	43				
PPRC1	23082	broad.mit.edu	37	10	103906433	103906433	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:103906433C>T	ENST00000278070.2	+	9	3723	c.3684C>T	c.(3682-3684)ctC>ctT	p.L1228L	PPRC1_ENST00000370012.1_Silent_p.L195L|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCACAGGGCTCACCCCTCCAG	0.577																																							uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3682-3684)CTC>CTT		peroxisome proliferator-activated receptor							82.0	82.0	82.0					10																	103906433		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906433C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3684C>T	10.37:g.103906433C>T						PPRC1_uc001kun.2_Silent_p.L1108L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.L1228L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3723	+		Colorectal(252;0.122)	1228					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.3684C>T	CCDS7529.1																																																																																				0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		36	93	0	0	0	0.007835	0	36	93				
PDCD11	22984	broad.mit.edu	37	10	105158243	105158243	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:105158243G>C	ENST00000369797.3	+	2	154	c.60G>C	c.(58-60)gaG>gaC	p.E20D	USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000337003.4_5'Flank|USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000309579.3_5'Flank|USMG5_ENST00000369811.1_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					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)			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)		ACAAACCAGAGAAAGCTTTCC	0.418																																							uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(58-60)GAG>GAC		programmed cell death 11							139.0	129.0	132.0					10																	105158243		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158243G>C	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.60G>C	10.37:g.105158243G>C	ENSP00000358812:p.Glu20Asp					USMG5_uc001kww.1_5'Flank|USMG5_uc001kwx.1_5'Flank	p.E20D	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)	2	147	+		Colorectal(252;0.0747)|Breast(234;0.128)	20					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.60G>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933627	0.34096	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.14266	2.52	5.3	0.758	0.18432	.	0.452187	0.25628	N	0.029371	T	0.10208	0.0250	L	0.49571	1.57	0.25913	N	0.983211	B	0.10296	0.003	B	0.13407	0.009	T	0.25328	-1.0135	10	0.25751	T	0.34	-23.9668	4.6267	0.12481	0.4207:0.1631:0.4162:0.0	.	20	Q14690	RRP5_HUMAN	D	20	ENSP00000358812:E20D	ENSP00000358812:E20D	E	+	3	2	PDCD11	105148233	0.999000	0.42202	0.994000	0.49952	0.899000	0.52679	0.547000	0.23299	0.248000	0.21435	-0.266000	0.10368	GAG		0.418	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			8	37	0	0	0	0.00308	0	8	37				
SH3PXD2A	9644	broad.mit.edu	37	10	105365611	105365611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:105365611C>A	ENST00000369774.4	-	14	1648	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E325*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E430*|RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E293*|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	458	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACTGGAATTCGGCAATGGTG	0.542											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001kxj.1		NA																	0					0						c.(1288-1290)GAA>TAA		SH3 multiple domains 1							120.0	96.0	104.0					10																	105365611		2203	4300	6503	SO:0001587	stop_gained	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105365611C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1372G>T	10.37:g.105365611C>A	ENSP00000358789:p.Glu458*		OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1388	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Nonsense_Mutation_p.E265*|SH3PXD2A_uc010qqt.1_Nonsense_Mutation_p.E307*|SH3PXD2A_uc009xxn.1_Nonsense_Mutation_p.E265*|SH3PXD2A_uc010qqu.1_Nonsense_Mutation_p.E373*	p.E430*	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	13	1428	-		Colorectal(252;0.0815)|Breast(234;0.131)	458			SH3 3.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Nonsense_Mutation	SNP	ENST00000369774.4	37	c.1288G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.651342|5.651342	0.96714|0.96714	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	.|.	.|.	.|.	5.77|5.77	4.87|4.87	0.63330|0.63330	.|.	0.044718|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71663	.|-0.4525	.|3	0.59425|.	D|.	0.04|.	-18.5606|-18.5606	14.7727|14.7727	0.69691|0.69691	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	.|.	.|.	.|.	X|L	458;430;265;373;325;293|384	.|.	ENSP00000318135:E265X|.	E|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105355601|105355601	1.000000|1.000000	0.71417|0.71417	0.814000|0.814000	0.32528|0.32528	0.888000|0.888000	0.51559|0.51559	7.487000|7.487000	0.81328|0.81328	1.449000|1.449000	0.47699|0.47699	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.542	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		19	44	1	0	1.01871e-10	0.008871	1.42771e-10	19	44				
SORCS1	114815	broad.mit.edu	37	10	108366923	108366923	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:108366923C>A	ENST00000263054.6	-	23	3173		c.e23+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000478809.2_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGGGACTCACCTGCTCCAGG	0.498																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e23+1		SORCS receptor 1 isoform a							103.0	99.0	100.0					10																	108366923		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366923C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3165+1G>T	10.37:g.108366923C>A						SORCS1_uc001kyl.2_Splice_Site_p.Q1055_splice|SORCS1_uc009xxs.2_Splice_Site_p.Q1055_splice|SORCS1_uc001kyn.1_Splice_Site_p.Q1055_splice|SORCS1_uc001kyo.2_Splice_Site_p.Q1055_splice	p.Q1055_splice	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3173	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.3165_splice	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569502	0.65765	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000452214;ENST00000344440	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1324	0.93413	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108356913	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.491000	0.73649	2.629000	0.89072	0.655000	0.94253	.		0.498	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	7	50	1	0	8.12818e-05	0.001984	9.28583e-05	7	50				
ADRA2A	150	broad.mit.edu	37	10	112838897	112838897	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:112838897G>A	ENST00000280155.2	+	1	2108	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	366					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGGGCGGCAGAACCGCGAGA	0.731																																					Esophageal Squamous(173;605 2658 7278 49362)	Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NA																	0					0						c.(1141-1143)CAG>CAA		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						87.0	71.0	76.0					10																	112838897		2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838897G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1143G>A	10.37:g.112838897G>A							p.Q381Q	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2108	+		Breast(234;0.0735)|Lung NSC(174;0.238)	366			Cytoplasmic (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.1143G>A	CCDS7569.2																																																																																				0.731	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		27	138	0	0	0	0.005443	0	27	138				
ACSL5	51703	broad.mit.edu	37	10	114164554	114164554	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:114164554A>G	ENST00000393081.1	+	5	729	c.422A>G	c.(421-423)aAt>aGt	p.N141S	ACSL5_ENST00000354273.4_Missense_Mutation_p.N141S|ACSL5_ENST00000433418.1_Missense_Mutation_p.N141S|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.N141S|ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.N197S|RP11-324O2.3_ENST00000449782.2_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	141					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTGCTCAGAATAGGCCAGAG	0.408																																							uc001kzs.2		NA																	0				large_intestine(2)|skin(1)	3						c.(421-423)AAT>AGT		acyl-CoA synthetase long-chain family member 5							144.0	144.0	144.0					10																	114164554		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114164554A>G	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.422A>G	10.37:g.114164554A>G	ENSP00000376796:p.Asn141Ser					ACSL5_uc001kzt.2_Missense_Mutation_p.N141S|ACSL5_uc001kzu.2_Missense_Mutation_p.N197S|ACSL5_uc009xxz.2_Missense_Mutation_p.N141S	p.N141S	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	5	563	+		Colorectal(252;0.117)|Breast(234;0.222)	141			Cytoplasmic (Potential).		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.422A>G	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596392	0.86953	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.62	5.62	0.85841	AMP-dependent synthetase/ligase (1);	0.101147	0.64402	D	0.000002	T	0.53126	0.1777	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.986;0.994	T	0.66073	-0.6014	10	0.87932	D	0	-24.3501	15.0999	0.72266	1.0:0.0:0.0:0.0	.	141;197;141	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	S	141;141;197;141;141	ENSP00000346680:N141S;ENSP00000376796:N141S;ENSP00000348429:N197S;ENSP00000403647:N141S;ENSP00000346223:N141S	ENSP00000346223:N141S	N	+	2	0	ACSL5	114154544	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.878000	0.92393	2.263000	0.75096	0.533000	0.62120	AAT		0.408	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		28	136	0	0	0	0.005443	0	28	136				
ZDHHC6	64429	broad.mit.edu	37	10	114203279	114203279	+	Missense_Mutation	SNP	C	C	T	rs141897265		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:114203279C>T	ENST00000369405.3	-	3	776	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C114Y	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	118					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GTACCTGTTACACTTTCTGCA	0.403																																							uc001kzv.2		NA																	0					0						c.(352-354)TGT>TAT		zinc finger, DHHC-type containing 6							170.0	164.0	166.0					10																	114203279		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114203279C>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.353G>A	10.37:g.114203279C>T	ENSP00000358413:p.Cys118Tyr					ZDHHC6_uc001kzw.2_Missense_Mutation_p.C114Y|ZDHHC6_uc009xya.1_Missense_Mutation_p.C118Y	p.C118Y	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	3	777	-		Colorectal(252;0.198)	118			DHHC-type.		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.353G>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887705	0.91814	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.62364	0.03;0.03	5.56	5.56	0.83823	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.961;0.983	D	0.90715	0.4630	10	0.87932	D	0	-28.4284	19.8773	0.96884	0.0:1.0:0.0:0.0	.	114;118	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	Y	118;114	ENSP00000358413:C118Y;ENSP00000358412:C114Y	ENSP00000358412:C114Y	C	-	2	0	ZDHHC6	114193269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.687000	0.84139	2.758000	0.94735	0.650000	0.86243	TGT		0.403	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		10	130	0	0	0	0.008291	0	10	130				
NRAP	4892	broad.mit.edu	37	10	115409891	115409891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:115409891G>T	ENST00000359988.3	-	9	1037	c.793C>A	c.(793-795)Cat>Aat	p.H265N	NRAP_ENST00000360478.3_Missense_Mutation_p.H265N|NRAP_ENST00000369358.4_Missense_Mutation_p.H265N|NRAP_ENST00000369360.3_Missense_Mutation_p.H265N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATTGTTGATGGTACCTCACC	0.443																																							uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(793-795)CAT>AAT		nebulin-related anchoring protein isoform S							167.0	148.0	154.0					10																	115409891		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115409891G>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.793C>A	10.37:g.115409891G>T	ENSP00000353078:p.His265Asn					NRAP_uc001lak.2_Missense_Mutation_p.H265N|NRAP_uc001lal.3_Missense_Mutation_p.H265N	p.H265N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	9	957	-		Colorectal(252;0.0233)|Breast(234;0.188)	265			Nebulin 5.			Missense_Mutation	SNP	ENST00000359988.3	37	c.793C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902705	0.72754	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.17370	2.51;2.47;2.39;2.28	6.17	5.27	0.74061	.	0.153239	0.64402	D	0.000011	T	0.25754	0.0627	L	0.48362	1.52	0.33607	D	0.603132	P;P;P	0.50528	0.895;0.936;0.895	P;P;P	0.51415	0.468;0.669;0.468	T	0.37526	-0.9702	10	0.56958	D	0.05	.	13.2604	0.60102	0.0726:0.0:0.9274:0.0	.	265;265;265	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	N	265	ENSP00000358365:H265N;ENSP00000358367:H265N;ENSP00000353078:H265N;ENSP00000353666:H265N	ENSP00000353078:H265N	H	-	1	0	NRAP	115399881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.320000	0.59203	1.631000	0.50456	0.655000	0.94253	CAT		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		35	200	1	0	1.30015e-28	0.004878	2.23306e-28	35	200				
PNLIP	5406	broad.mit.edu	37	10	118315520	118315520	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:118315520G>C	ENST00000369221.2	+	9	848	c.820G>C	c.(820-822)Gac>Cac	p.D274H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	274					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGGGACTCGAGACTTTGCGGC	0.393																																							uc001lcm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(820-822)GAC>CAC		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						164.0	151.0	155.0					10																	118315520		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118315520G>C	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.820G>C	10.37:g.118315520G>C	ENSP00000358223:p.Asp274His						p.D274H	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	9	863	+			274					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.820G>C	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515045	0.44763	.	.	ENSG00000175535	ENST00000369221	D	0.91464	-2.85	6.16	3.31	0.37934	Lipase, N-terminal (1);	0.067665	0.64402	D	0.000011	D	0.92795	0.7709	M	0.88181	2.935	0.42200	D	0.991761	D	0.53885	0.963	P	0.48571	0.582	D	0.92153	0.5730	10	0.66056	D	0.02	.	11.5574	0.50757	0.1995:0.0:0.8005:0.0	.	274	P16233	LIPP_HUMAN	H	274	ENSP00000358223:D274H	ENSP00000358223:D274H	D	+	1	0	PNLIP	118305510	0.886000	0.30341	0.436000	0.26797	0.612000	0.37316	1.206000	0.32321	0.469000	0.27268	0.650000	0.86243	GAC		0.393	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		19	125	0	0	0	0.008871	0	19	125				
DMBT1	1755	broad.mit.edu	37	10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:124402858G>A	ENST00000338354.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(7186-7188)GTC>ATC		deleted in malignant brain tumors 1 isoform b							62.0	65.0	64.0					10																	124402858		2030	4165	6195	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402858G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7186G>A	10.37:g.124402858G>A	ENSP00000342210:p.Val2396Ile					DMBT1_uc001lgl.1_Missense_Mutation_p.V2386I|DMBT1_uc001lgm.1_Missense_Mutation_p.V1768I|DMBT1_uc009xzz.1_Missense_Mutation_p.V2395I|DMBT1_uc010qtx.1_Missense_Mutation_p.V1116I|DMBT1_uc009yab.1_Missense_Mutation_p.V1099I|DMBT1_uc009yac.1_Missense_Mutation_p.V690I	p.V2396I	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			53	7292	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2396					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7186G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717351	0.30413	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.23950	1.93;1.91;1.88;1.93;1.91;1.88;1.9	5.39	2.56	0.30785	.	0.247806	0.20150	U	0.098180	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	P;P;B;B;B;B;B	0.37061	0.58;0.58;0.374;0.374;0.374;0.374;0.257	B;B;B;B;B;B;B	0.29942	0.109;0.066;0.066;0.066;0.066;0.066;0.03	T	0.08932	-1.0698	10	0.34782	T	0.22	.	10.54	0.45026	0.2657:0.0:0.7343:0.0	.	1116;2376;1645;2525;1768;2386;2396	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	I	2396;2525;2396;2396;2396;2395;1768;2386;1768;1768;2396;2386;1768;542;1116	ENSP00000342210:V2396I;ENSP00000343175:V2386I;ENSP00000327747:V1768I;ENSP00000357905:V2396I;ENSP00000357951:V2386I;ENSP00000357952:V1768I;ENSP00000352593:V1116I	ENSP00000331522:V1768I	V	+	1	0	DMBT1	124392848	0.102000	0.21896	0.125000	0.21846	0.946000	0.59487	0.380000	0.20602	0.277000	0.22141	0.655000	0.94253	GTC		0.647	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		18	32	0	0	0	0.00499	0	18	32				
CD151	977	broad.mit.edu	37	11	838021	838021	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:838021G>T	ENST00000397420.3	+	8	944	c.695G>T	c.(694-696)tGt>tTt	p.C232F	CD151_ENST00000528011.1_Missense_Mutation_p.C230F|CD151_ENST00000397421.1_Missense_Mutation_p.C232F|CD151_ENST00000322008.4_Missense_Mutation_p.C232F			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	232					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCATTGCCTGTGTGCAGGTG	0.667																																					Esophageal Squamous(14;501 559 15826 37823 38305)	Esophageal Squamous(14;501 559 15826 37823 38305)	uc001lry.2		NA																	0					0						c.(694-696)TGT>TTT		CD151 antigen							108.0	100.0	102.0					11																	838021		2199	4298	6497	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:838021G>T	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.695G>T	11.37:g.838021G>T	ENSP00000380565:p.Cys232Phe					CD151_uc001lrx.2_RNA|CD151_uc001lrz.2_Missense_Mutation_p.C232F|CD151_uc001lsa.2_Missense_Mutation_p.C232F|CD151_uc001lsb.2_Missense_Mutation_p.C232F	p.C232F	NM_004357	NP_004348	P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	839	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	232			Helical; (Potential).		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.695G>T	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022795	0.19433	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000528143;ENST00000528011	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.1	4.1	0.47936	.	0.044188	0.85682	D	0.000000	T	0.55178	0.1904	N	0.05177	-0.1	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.51872	-0.8650	10	0.12430	T	0.62	.	12.511	0.56005	0.0:0.0:0.8324:0.1675	.	232	P48509	CD151_HUMAN	F	232;232;232;108;230	ENSP00000380565:C232F;ENSP00000324101:C232F;ENSP00000380566:C232F;ENSP00000432990:C230F	ENSP00000324101:C232F	C	+	2	0	CD151	828021	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	4.141000	0.58038	2.287000	0.76781	0.561000	0.74099	TGT		0.667	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		7	19	1	0	8.12818e-05	0.001984	9.28583e-05	7	19				
MUC2	4583	broad.mit.edu	37	11	1090835	1090835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1090835G>T	ENST00000441003.2	+	28	3757	c.3730G>T	c.(3730-3732)Ggc>Tgc	p.G1244C	MUC2_ENST00000359061.5_Missense_Mutation_p.G1245C|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1244					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAGATCTGTGGCCCCAACGG	0.577																																							uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(3730-3732)GGC>TGC		mucin 2 precursor	Pranlukast(DB01411)						130.0	141.0	137.0					11																	1090835		2074	4191	6265	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1090835G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3730G>T	11.37:g.1090835G>T	ENSP00000415183:p.Gly1244Cys						p.G1244C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	28	3757	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1244					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3730G>T		.	.	.	.	.	.	.	.	.	.	G	7.125	0.578738	0.13686	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13420	2.62;2.59	2.87	1.13	0.20643	.	0.000000	0.39909	U	0.001240	T	0.25791	0.0628	M	0.73962	2.25	0.20307	N	0.999912	D	0.69078	0.997	P	0.59889	0.865	T	0.04607	-1.0939	10	0.66056	D	0.02	.	5.2156	0.15340	0.2623:0.0:0.7377:0.0	.	1244	E7EUV1	.	C	1244;1245	ENSP00000415183:G1244C;ENSP00000351956:G1245C	ENSP00000351956:G1245C	G	+	1	0	MUC2	1080835	0.962000	0.33011	0.663000	0.29738	0.327000	0.28475	2.223000	0.42936	0.307000	0.22880	0.281000	0.19383	GGC		0.577	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	28	1	0	7.03913e-09	0.001368	9.36067e-09	12	28				
MUC5B	727897	broad.mit.edu	37	11	1267460	1267460	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1267460G>A	ENST00000529681.1	+	31	9408	c.9350G>A	c.(9349-9351)aGg>aAg	p.R3117K	MUC5B_ENST00000447027.1_Missense_Mutation_p.R3120K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3117	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R3117L(1)|p.R3096L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGACAAGGGCCACCAGT	0.637																																							uc009ycr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(11098-11100)AGG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							94.0	125.0	114.0					11																	1267460		2123	4217	6340	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267460G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9350G>A	11.37:g.1267460G>A	ENSP00000436812:p.Arg3117Lys					MUC5B_uc001ltb.2_Missense_Mutation_p.R3120K	p.R3700K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11225	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3117	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11099G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.735758	0.00681	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.14391	2.51;2.7	1.6	-3.21	0.05140	.	.	.	.	.	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38134	-0.9675	9	0.87932	D	0	.	1.6083	0.02688	0.2168:0.2165:0.4303:0.1363	.	3700;3120	A7Y9J9;E9PBJ0	.;.	K	3117;3120;3089;3077;7	ENSP00000436812:R3117K;ENSP00000415793:R3120K	ENSP00000343037:R3089K	R	+	2	0	MUC5B	1224036	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.176000	0.00144	-5.113000	0.00021	-1.767000	0.00664	AGG		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		21	84	0	0	0	0.010504	0	21	84				
LSP1	4046	broad.mit.edu	37	11	1908785	1908785	+	Missense_Mutation	SNP	G	G	T	rs564056573		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1908785G>T	ENST00000311604.3	+	10	1187	c.1012G>T	c.(1012-1014)Gct>Tct	p.A338S	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000406638.2_Missense_Mutation_p.A276S|LSP1_ENST00000405957.2_Missense_Mutation_p.A276S|LSP1_ENST00000381775.1_Missense_Mutation_p.A466S	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	338					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGGGGCCCGGCTCCCTAGGC	0.592																																							uc001lui.2		NA																	0				large_intestine(1)	1						c.(1012-1014)GCT>TCT		lymphocyte-specific protein 1 isoform 1							73.0	75.0	74.0					11																	1908785		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1908785G>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.1012G>T	11.37:g.1908785G>T	ENSP00000308383:p.Ala338Ser					LSP1_uc001luj.2_Missense_Mutation_p.A466S|LSP1_uc001luk.2_Missense_Mutation_p.A276S|LSP1_uc001lul.2_Missense_Mutation_p.A276S|LSP1_uc001lum.2_Missense_Mutation_p.A276S	p.A338S	NM_002339	NP_002330	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	10	1187	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	338					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.1012G>T	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.692468	0.48202	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000406638	T;T;T;T	0.34072	1.54;1.38;1.57;1.57	4.08	4.08	0.47627	.	0.463268	0.15467	U	0.260802	T	0.32436	0.0829	N	0.19112	0.55	0.09310	N	1	D;P	0.61080	0.989;0.849	P;B	0.52343	0.696;0.239	T	0.08166	-1.0735	10	0.66056	D	0.02	-21.2095	8.4179	0.32683	0.1124:0.0:0.8876:0.0	.	466;338	E9PFP3;P33241	.;LSP1_HUMAN	S	338;466;276;276	ENSP00000308383:A338S;ENSP00000371194:A466S;ENSP00000383932:A276S;ENSP00000384022:A276S	ENSP00000308383:A338S	A	+	1	0	LSP1	1865361	0.003000	0.15002	0.026000	0.17262	0.215000	0.24574	1.295000	0.33377	2.218000	0.71995	0.305000	0.20034	GCT		0.592	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		6	28	1	0	5.9392e-07	0.001168	7.40191e-07	6	28				
IGF2	3481	broad.mit.edu	37	11	2154386	2154386	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:2154386C>A	ENST00000416167.2	-	4	1540	c.374G>T	c.(373-375)cGc>cTc	p.R125L	IGF2_ENST00000418738.2_Missense_Mutation_p.R125L|IGF2_ENST00000381406.4_Missense_Mutation_p.R128L|IGF2_ENST00000300632.5_Missense_Mutation_p.R125L|IGF2_ENST00000434045.2_Missense_Mutation_p.R181L|IGF2_ENST00000381389.1_Missense_Mutation_p.R125L|IGF2_ENST00000381395.1_Missense_Mutation_p.R125L|IGF2_ENST00000381392.1_Missense_Mutation_p.R128L|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	125					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGCGCAGGCGCTGGGTGGA	0.667																																							uc009yde.2		NA																	0				central_nervous_system(1)	1						c.(373-375)CGC>CTC		insulin-like growth factor 2 isoform 1							30.0	29.0	30.0					11																	2154386		2201	4299	6500	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154386C>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.374G>T	11.37:g.2154386C>A	ENSP00000414497:p.Arg125Leu					IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R125L|IGF2_uc009ydf.2_Missense_Mutation_p.R181L|IGF2_uc001lvh.2_Missense_Mutation_p.R125L|INS-IGF2_uc001lvi.2_RNA	p.R125L	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	477	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	125					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.374G>T	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978470	0.74360	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	2.92	2.92	0.33932	Insulin-like growth factor II E-peptide, C-terminal (2);	0.000000	0.64402	U	0.000001	D	0.85504	0.5712	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87237	0.2264	10	0.87932	D	0	-8.0576	10.9684	0.47426	0.0:1.0:0.0:0.0	.	181;125	C9JAF2;P01344	.;IGF2_HUMAN	L	125;128;125;125;128;181;128;125;125;125;128	ENSP00000370802:R125L;ENSP00000370813:R128L;ENSP00000414497:R125L;ENSP00000300632:R125L;ENSP00000391826:R181L;ENSP00000370799:R128L;ENSP00000370796:R125L;ENSP00000402047:R125L;ENSP00000338297:R125L	ENSP00000300632:R125L	R	-	2	0	IGF2	2110962	0.995000	0.38212	0.819000	0.32651	0.709000	0.40893	3.047000	0.49854	1.648000	0.50643	0.462000	0.41574	CGC		0.667	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		6	16	1	0	0.00116845	0.001168	0.00125679	6	16				
OR51V1	283111	broad.mit.edu	37	11	5221326	5221326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:5221326C>A	ENST00000321255.1	-	1	604	c.605G>T	c.(604-606)cGa>cTa	p.R202L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					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.R202P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTATTGAATCGGATGTCTGA	0.408																																							uc010qyz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(604-606)CGA>CTA		olfactory receptor, family 51, subfamily V,							58.0	55.0	56.0					11																	5221326		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221326C>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.605G>T	11.37:g.5221326C>A	ENSP00000321729:p.Arg202Leu						p.R202L	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	605	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	202			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.605G>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638973	0.29157	.	.	ENSG00000176742	ENST00000321255	T	0.36520	1.25	5.17	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.469091	0.18100	N	0.151727	T	0.44705	0.1306	M	0.66439	2.03	0.09310	N	1	P	0.51933	0.949	P	0.56127	0.792	T	0.31081	-0.9956	10	0.59425	D	0.04	.	3.6524	0.08209	0.136:0.5792:0.132:0.1528	.	202	Q9H2C8	O51V1_HUMAN	L	202	ENSP00000321729:R202L	ENSP00000321729:R202L	R	-	2	0	OR51V1	5177902	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-0.732000	0.04904	0.337000	0.23665	0.655000	0.94253	CGA		0.408	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		17	42	1	0	0.000958276	0.007413	0.00104564	17	42				
OR52N2	390077	broad.mit.edu	37	11	5841791	5841791	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:5841791T>A	ENST00000317037.2	+	1	248	c.226T>A	c.(226-228)Tgc>Agc	p.C76S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACCTTGTGCACCACCAT	0.527																																							uc010qzp.1		NA																	0				ovary(1)|skin(1)	2						c.(226-228)TGC>AGC		olfactory receptor, family 52, subfamily N,							174.0	150.0	158.0					11																	5841791		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841791T>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.226T>A	11.37:g.5841791T>A	ENSP00000322801:p.Cys76Ser					TRIM5_uc001mbq.1_Intron	p.C76S	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	226	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	76			Helical; Name=2; (Potential).		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.226T>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.184706	0.01620	.	.	ENSG00000180988	ENST00000317037	T	0.00420	7.47	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00178	0.0005	N	0.01454	-0.855	0.20196	N	0.999927	B	0.31290	0.318	B	0.34138	0.176	T	0.50448	-0.8827	10	0.02654	T	1	.	15.1647	0.72814	0.0:0.0:0.0:1.0	.	76	Q8NGI0	O52N2_HUMAN	S	76	ENSP00000322801:C76S	ENSP00000322801:C76S	C	+	1	0	OR52N2	5798367	0.000000	0.05858	0.596000	0.28811	0.244000	0.25665	0.519000	0.22862	2.260000	0.74910	0.533000	0.62120	TGC		0.527	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		35	112	0	0	0	0.004878	0	35	112				
DNHD1	144132	broad.mit.edu	37	11	6524146	6524146	+	Missense_Mutation	SNP	C	C	T	rs539207151	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:6524146C>T	ENST00000527990.2	+	2	910	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNHD1_ENST00000254579.6_Missense_Mutation_p.R304W|DNHD1_ENST00000354685.3_Missense_Mutation_p.R304W			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	304					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.R304W(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCTCCCAGCCGGTACTTTAG	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		19185	0.001		0.0	False		,,,				2504	0.001						uc001mdw.3		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(2)	2						c.(910-912)CGG>TGG		dynein heavy chain domain 1 isoform 1							93.0	84.0	87.0					11																	6524146		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6524146C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.910C>T	11.37:g.6524146C>T	ENSP00000436180:p.Arg304Trp					DNHD1_uc001mdp.2_Missense_Mutation_p.R304W	p.R304W	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1474	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	304					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.910C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426944	0.83667	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.17691	2.26;2.26;2.26	5.49	2.31	0.28768	.	0.000000	0.64402	D	0.000018	T	0.34019	0.0883	M	0.74258	2.255	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.928;0.971	T	0.05649	-1.0872	10	0.62326	D	0.03	.	5.6123	0.17412	0.4229:0.4802:0.0:0.0969	.	304;304	Q96M86;Q96M86-4	DNHD1_HUMAN;.	W	304	ENSP00000254579:R304W;ENSP00000346716:R304W;ENSP00000436180:R304W	ENSP00000254579:R304W	R	+	1	2	DNHD1	6480722	0.843000	0.29541	0.399000	0.26333	0.949000	0.60115	1.035000	0.30216	0.673000	0.31224	0.563000	0.77884	CGG		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		17	32	0	0	0	0.006122	0	17	32				
SOX6	55553	broad.mit.edu	37	11	16208425	16208425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:16208425C>A	ENST00000352083.6	-	5	689	c.612G>T	c.(610-612)caG>caT	p.Q204H	SOX6_ENST00000528252.1_Missense_Mutation_p.Q204H|SOX6_ENST00000316399.6_Missense_Mutation_p.Q204H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q204H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q204H|SOX6_ENST00000527619.1_Missense_Mutation_p.Q207H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	204					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCCAGTAGCTGCTCCCGTA	0.493																																							uc001mme.2		NA																	0				ovary(3)	3						c.(649-651)CAG>CAT		SRY (sex determining region Y)-box 6 isoform 4							168.0	165.0	166.0					11																	16208425		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16208425C>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.612G>T	11.37:g.16208425C>A	ENSP00000339876:p.Gln204His					SOX6_uc001mmd.2_Missense_Mutation_p.Q207H|SOX6_uc001mmf.2_Missense_Mutation_p.Q204H|SOX6_uc001mmg.2_Missense_Mutation_p.Q204H	p.Q217H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			5	684	-			204			Potential.		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.651G>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097373	0.56075	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99298	-5.65;-5.58;-5.65;-5.71;-5.7;-5.58	5.73	2.88	0.33553	.	0.184547	0.51477	D	0.000091	D	0.99214	0.9727	M	0.82193	2.58	0.58432	D	0.999997	D;D;D	0.89917	0.996;1.0;0.995	D;D;D	0.77004	0.946;0.971;0.989	D	0.99167	1.0863	10	0.54805	T	0.06	.	8.9882	0.36008	0.0:0.7194:0.0:0.2806	.	204;204;207	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	204;204;204;204;207;204	ENSP00000324948:Q204H;ENSP00000339876:Q204H;ENSP00000379644:Q204H;ENSP00000432134:Q204H;ENSP00000434455:Q207H;ENSP00000433233:Q204H	ENSP00000324948:Q204H	Q	-	3	2	SOX6	16165001	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.838000	0.55828	0.361000	0.24292	-0.253000	0.11424	CAG		0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		63	124	1	0	2.20561e-19	0.00361	3.55349e-19	63	124				
SLC6A5	9152	broad.mit.edu	37	11	20622838	20622838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:20622838C>T	ENST00000525748.1	+	2	440	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	56					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGTCCGCTTCCACCGGCGCC	0.736																																							uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(166-168)TCC>TTC		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						4.0	5.0	5.0					11																	20622838		1955	3933	5888	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622838C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.167C>T	11.37:g.20622838C>T	ENSP00000434364:p.Ser56Phe					SLC6A5_uc009yic.2_5'UTR	p.S56F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			2	440	+			56			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.167C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225057	0.79576	.	.	ENSG00000165970	ENST00000525748	T	0.74737	-0.87	5.7	5.7	0.88788	.	0.310460	0.35903	N	0.002914	T	0.73737	0.3625	L	0.29908	0.895	0.53688	D	0.999971	D	0.55385	0.971	P	0.50440	0.641	T	0.77148	-0.2694	10	0.87932	D	0	.	18.401	0.90516	0.0:1.0:0.0:0.0	.	56	Q9Y345	SC6A5_HUMAN	F	56	ENSP00000434364:S56F	ENSP00000298923:S56F	S	+	2	0	SLC6A5	20579414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.974000	0.63771	2.695000	0.91970	0.462000	0.41574	TCC		0.736	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		4	10	0	0	0	0.000602	0	4	10				
NELL1	4745	broad.mit.edu	37	11	20907087	20907087	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:20907087G>T	ENST00000357134.5	+	5	755		c.e5+1		NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000298925.5_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTATTCAAAGTAAGCACTAA	0.403																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.e5+1		nel-like 1 isoform 1 precursor							72.0	66.0	68.0					11																	20907087		2203	4300	6503	SO:0001630	splice_region_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20907087G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.603+1G>T	11.37:g.20907087G>T						NELL1_uc001mqf.2_Splice_Site_p.K201_splice|NELL1_uc009yid.2_Splice_Site_p.K229_splice|NELL1_uc010rdo.1_Splice_Site_p.K144_splice|NELL1_uc010rdp.1_Intron	p.K201_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN			5	756	+								B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	ENST00000357134.5	37	c.603_splice	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281141	0.80692	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8059	0.92037	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20863663	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.783000	0.85696	2.526000	0.85167	0.591000	0.81541	.		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	Intron	9	29	1	0	0.000274275	0.004482	0.000303231	9	29				
MPPED2	744	broad.mit.edu	37	11	30557678	30557678	+	Missense_Mutation	SNP	G	G	A	rs200641482		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:30557678G>A	ENST00000358117.5	-	2	295	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MPPED2_ENST00000448418.2_Missense_Mutation_p.T58M	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	58					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GACAAACCGCGTGTGGCCCGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17102	0.0		0.001	False		,,,				2504	0.0						uc001msr.2		NA																	0				skin(1)	1						c.(172-174)ACG>ATG		metallophosphoesterase domain containing 2							97.0	96.0	96.0					11																	30557678		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30557678G>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.173C>T	11.37:g.30557678G>A	ENSP00000350833:p.Thr58Met					MPPED2_uc001msq.3_Missense_Mutation_p.T58M|MPPED2_uc009yji.2_Translation_Start_Site	p.T58M	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			2	293	-			58					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.173C>T	CCDS7870.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.2	4.106548	0.77096	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.34472	1.36;1.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	N	0.04746	-0.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.972	T	0.52895	-0.8514	10	0.52906	T	0.07	-7.3555	20.5827	0.99408	0.0:0.0:1.0:0.0	.	58;58	Q15777;E9PB10	MPPD2_HUMAN;.	M	58	ENSP00000388258:T58M;ENSP00000350833:T58M	ENSP00000350833:T58M	T	-	2	0	MPPED2	30514254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	ACG		0.483	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		4	37	0	0	0	0.009096	0	4	37				
ABTB2	25841	broad.mit.edu	37	11	34173997	34173997	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:34173997C>T	ENST00000435224.2	-	17	3439	c.3015G>A	c.(3013-3015)ctG>ctA	p.L1005L	ABTB2_ENST00000298992.2_Silent_p.L819L	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	1005					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCAGGTCCTGCAGTGGATCCA	0.647																																							uc001mvl.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2455-2457)CTG>CTA		ankyrin repeat and BTB (POZ) domain containing							39.0	32.0	34.0					11																	34173997		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34173997C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.3015G>A	11.37:g.34173997C>T							p.L819L	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			17	2687	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	819					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.2457G>A	CCDS7890.2																																																																																				0.647	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	4	0	0	0	0.000602	0	4	4				
SYT13	57586	broad.mit.edu	37	11	45268061	45268061	+	Silent	SNP	C	C	T	rs144015985	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:45268061C>T	ENST00000020926.3	-	5	960	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	283					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGCAGATGGCTCCTGAAACA	0.547													C|||	8	0.00159744	0.0061	0.0	5008	,	,		18280	0.0		0.0	False		,,,				2504	0.0						uc001myq.2		NA																	0				ovary(1)	1						c.(847-849)GAG>GAA		synaptotagmin XIII		C		2,4404	4.2+/-10.8	0,2,2201	43.0	42.0	43.0		849	2.1	0.9	11	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	SYT13	NM_020826.2		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		283/427	45268061	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45268061C>T	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.849G>A	11.37:g.45268061C>T						SYT13_uc009yku.1_Silent_p.E139E	p.E283E	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			5	975	-			283			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.849G>A	CCDS31470.1																																																																																				0.547	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		4	19	0	0	0	0.009096	0	4	19				
LRP4	4038	broad.mit.edu	37	11	46918425	46918425	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:46918425T>C	ENST00000378623.1	-	8	1159	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	306					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACCACCTGTATTCTCACAGTT	0.567																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(916-918)AAT>AGT		low density lipoprotein receptor-related protein							137.0	122.0	127.0					11																	46918425		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46918425T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.917A>G	11.37:g.46918425T>C	ENSP00000367888:p.Asn306Ser						p.N306S	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	8	1063	-			306			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.917A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895200	0.33442	.	.	ENSG00000134569	ENST00000378623	T	0.40756	1.02	5.79	5.79	0.91817	.	0.049964	0.85682	D	0.000000	T	0.23532	0.0569	N	0.10645	0.015	0.49130	D	0.999751	B	0.02656	0.0	B	0.04013	0.001	T	0.12451	-1.0547	10	0.08599	T	0.76	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	306	O75096	LRP4_HUMAN	S	306	ENSP00000367888:N306S	ENSP00000367888:N306S	N	-	2	0	LRP4	46875001	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.184000	0.65070	2.218000	0.71995	0.533000	0.62120	AAT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		10	98	0	0	0	0.001368	0	10	98				
OR4A5	81318	broad.mit.edu	37	11	51411594	51411594	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:51411594T>C	ENST00000319760.6	-	1	854	c.802A>G	c.(802-804)Atg>Gtg	p.M268V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACACAGTCATGAACTTATCA	0.368																																							uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(802-804)ATG>GTG		olfactory receptor, family 4, subfamily A,							50.0	49.0	50.0					11																	51411594		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411594T>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.802A>G	11.37:g.51411594T>C	ENSP00000367664:p.Met268Val						p.M268V	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	802	-		all_lung(304;0.236)	268			Helical; Name=7; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.802A>G	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.998403	0.00002	.	.	ENSG00000221840	ENST00000319760	T	0.32753	1.44	2.2	-4.39	0.03611	GPCR, rhodopsin-like superfamily (1);	2.164420	0.02455	N	0.085995	T	0.06188	0.0160	N	0.00296	-1.695	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33214	-0.9877	10	0.02654	T	1	.	5.5395	0.17030	0.0:0.1804:0.4458:0.3738	.	268	Q8NH83	OR4A5_HUMAN	V	268	ENSP00000367664:M268V	ENSP00000367664:M268V	M	-	1	0	OR4A5	51268170	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.477000	0.02331	-1.447000	0.01943	0.136000	0.15936	ATG		0.368	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		11	76	0	0	0	0.000978	0	11	76				
OR4C15	81309	broad.mit.edu	37	11	55322549	55322549	+	Missense_Mutation	SNP	G	G	T	rs201152311		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:55322549G>T	ENST00000314644.2	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTCATCAACAGTGGGTTTATC	0.473										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(766-768)AGT>ATT		olfactory receptor, family 4, subfamily C,							180.0	121.0	141.0					11																	55322549		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322549G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.767G>T	11.37:g.55322549G>T	ENSP00000324958:p.Ser256Ile	HNSCC(20;0.049)					p.S256I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	767	+			202			Helical; Name=5; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.767G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654279	0.29425	.	.	ENSG00000181939	ENST00000314644	T	0.38240	1.15	5.02	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59905	0.2228	M	0.79805	2.47	0.26222	N	0.979143	D	0.71674	0.998	D	0.74023	0.982	T	0.51188	-0.8737	9	0.87932	D	0	.	11.6877	0.51497	0.0:0.3422:0.6578:0.0	.	202	Q8NGM1	OR4CF_HUMAN	I	256	ENSP00000324958:S256I	ENSP00000324958:S256I	S	+	2	0	OR4C15	55079125	0.021000	0.18746	1.000000	0.80357	0.055000	0.15305	0.230000	0.17852	1.326000	0.45319	-0.781000	0.03364	AGT		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		8	60	1	0	1.06961e-07	0.00308	1.37861e-07	8	60				
OR5D13	390142	broad.mit.edu	37	11	55541528	55541528	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:55541528C>A	ENST00000361760.1	+	1	615	c.615C>A	c.(613-615)gcC>gcA	p.A205A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATTATTGCCATATTCAATG	0.383																																							uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(613-615)GCC>GCA		olfactory receptor, family 5, subfamily D,							133.0	129.0	130.0					11																	55541528		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541528C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.615C>A	11.37:g.55541528C>A							p.A205A	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	615	+		all_epithelial(135;0.196)	205			Helical; Name=5; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.615C>A	CCDS31507.1																																																																																				0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		25	154	1	0	0.000586117	0.003954	0.000643278	25	154				
OR5M10	390167	broad.mit.edu	37	11	56344535	56344535	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:56344535A>C	ENST00000526812.2	-	1	728	c.663T>G	c.(661-663)atT>atG	p.I221M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCGCTGCAAAAATGAAAAGAT	0.453																																							uc001niz.1		NA																	0					0						c.(661-663)ATT>ATG		olfactory receptor, family 5, subfamily M,							49.0	49.0	49.0					11																	56344535		1858	4088	5946	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344535A>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.663T>G	11.37:g.56344535A>C	ENSP00000436004:p.Ile221Met						p.I221M	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	663	-			221			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.663T>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	A	9.267	1.044679	0.19748	.	.	ENSG00000254834	ENST00000526812	T	0.00411	7.53	4.2	-2.84	0.05751	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	H	0.98559	4.265	0.09310	N	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.02877	-1.1099	9	0.87932	D	0	.	10.8595	0.46819	0.4705:0.0:0.5295:0.0	.	221	Q6IEU7	OR5MA_HUMAN	M	221	ENSP00000436004:I221M	ENSP00000436004:I221M	I	-	3	3	OR5M10	56101111	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.261000	0.08694	-0.383000	0.07858	0.514000	0.50259	ATT		0.453	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		8	85	0	0	0	0.006214	0	8	85				
OR9G1	390174	broad.mit.edu	37	11	56468325	56468325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:56468325C>A	ENST00000312153.1	+	1	462	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTTTATTAACTCTTCAATCA	0.458																																							uc010rjn.1		NA																	0					0						c.(460-462)AAC>AAA		olfactory receptor, family 9, subfamily G,							194.0	183.0	187.0					11																	56468325		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468325C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.462C>A	11.37:g.56468325C>A	ENSP00000309012:p.Asn154Lys						p.N154K	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	462	+			154			Helical; Name=4; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.462C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444498	0.25987	.	.	ENSG00000174914	ENST00000312153	T	0.37411	1.2	4.52	0.516	0.17019	GPCR, rhodopsin-like superfamily (1);	0.101913	0.43416	D	0.000578	T	0.57344	0.2047	M	0.93062	3.375	0.09310	N	1	D	0.59767	0.986	D	0.63113	0.911	T	0.47787	-0.9090	10	0.51188	T	0.08	-27.8421	4.9022	0.13781	0.1403:0.4651:0.0:0.3946	.	154	Q8NH87	OR9G1_HUMAN	K	154	ENSP00000309012:N154K	ENSP00000309012:N154K	N	+	3	2	OR9G1	56224901	0.000000	0.05858	0.843000	0.33291	0.261000	0.26267	-2.674000	0.00842	0.237000	0.21200	0.573000	0.79308	AAC		0.458	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		12	199	1	0	0.000978159	0.000978	0.00105815	12	199				
APLNR	187	broad.mit.edu	37	11	57003659	57003659	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:57003659C>T	ENST00000606794.1	-	1	1016	c.820G>A	c.(820-822)Ggc>Agc	p.G274S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	274					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAGGCTGCCCAGCATGTAC	0.597																																							uc001njo.2		NA																	0				lung(5)|ovary(1)	6						c.(820-822)GGC>AGC		apelin receptor							92.0	57.0	69.0					11																	57003659		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003659C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.820G>A	11.37:g.57003659C>T	ENSP00000475344:p.Gly274Ser					APLNR_uc001njn.3_RNA	p.G274S	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1269	-			274			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.820G>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367492	0.24771	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.71461	-0.57	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.307941	0.32106	N	0.006573	T	0.45054	0.1323	N	0.04994	-0.135	0.33718	D	0.616638	B	0.20261	0.043	B	0.15484	0.013	T	0.52548	-0.8561	10	0.15499	T	0.54	-33.4395	8.8418	0.35146	0.0:0.8673:0.0:0.1327	.	274	P35414	APJ_HUMAN	S	274;155;193	ENSP00000257254:G274S	ENSP00000257254:G274S	G	-	1	0	APLNR	56760235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.597000	0.36729	2.551000	0.86045	0.655000	0.94253	GGC		0.597	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		16	30	0	0	0	0.003163	0	16	30				
OR5B17	219965	broad.mit.edu	37	11	58126193	58126193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:58126193G>T	ENST00000357377.3	-	1	349	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGAGGA	0.473																																							uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(349-351)GCC>GAC		olfactory receptor, family 5, subfamily B,							122.0	109.0	114.0					11																	58126193		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126193G>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.350C>A	11.37:g.58126193G>T	ENSP00000349945:p.Ala117Asp						p.A117D	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	350	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	117			Helical; Name=3; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.350C>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	17.91	3.503501	0.64298	.	.	ENSG00000197786	ENST00000357377	T	0.56103	0.48	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	U	0.002355	T	0.81138	0.4760	H	0.98866	4.355	0.31112	N	0.709867	D	0.89917	1.0	D	0.83275	0.996	T	0.82390	-0.0481	10	0.87932	D	0	-12.0866	9.5671	0.39405	0.1077:0.0:0.8923:0.0	.	117	Q8NGF7	OR5BH_HUMAN	D	117	ENSP00000349945:A117D	ENSP00000349945:A117D	A	-	2	0	OR5B17	57882769	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	6.396000	0.73234	0.723000	0.32274	0.461000	0.40582	GCC		0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		10	90	1	0	7.48243e-07	0.006214	9.21855e-07	10	90				
OR5B21	219968	broad.mit.edu	37	11	58275105	58275105	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:58275105T>A	ENST00000360374.2	-	1	473	c.474A>T	c.(472-474)gcA>gcT	p.A158A		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGTGCCTGCTGCATGGATAG	0.507																																							uc010rki.1		NA																	0				ovary(3)	3						c.(472-474)GCA>GCT		olfactory receptor, family 5, subfamily B,							87.0	74.0	78.0					11																	58275105		2201	4295	6496	SO:0001819	synonymous_variant	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275105T>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.474A>T	11.37:g.58275105T>A							p.A158A	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	474	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	158			Helical; Name=4; (Potential).			Silent	SNP	ENST00000360374.2	37	c.474A>T	CCDS31552.1																																																																																				0.507	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		8	67	0	0	0	0.00308	0	8	67				
OR4D10	390197	broad.mit.edu	37	11	59245091	59245091	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:59245091C>A	ENST00000530162.1	+	1	246	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTTTTGCTCCATAATTTAT	0.443																																							uc001nnz.1		NA																	0				ovary(2)|skin(1)	3						c.(187-189)CTC>CTA		olfactory receptor, family 4, subfamily D,							185.0	187.0	186.0					11																	59245091		2098	4248	6346	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245091C>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.189C>A	11.37:g.59245091C>A							p.L63L	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	189	+			63			Helical; Name=2; (Potential).		B2RNH6	Silent	SNP	ENST00000530162.1	37	c.189C>A	CCDS53636.1																																																																																				0.443	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		72	168	1	0	5.1178e-15	0.00361	7.74864e-15	72	168				
SYT7	9066	broad.mit.edu	37	11	61295529	61295529	+	Missense_Mutation	SNP	C	C	A	rs17849204	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:61295529C>A	ENST00000263846.4	-	5	807	c.480G>T	c.(478-480)caG>caT	p.Q160H	SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.Q204H|SYT7_ENST00000539008.1_Missense_Mutation_p.Q443H|SYT7_ENST00000540677.1_Missense_Mutation_p.Q235H|SYT7_ENST00000542670.1_Missense_Mutation_p.Q368H|SYT7_ENST00000535826.1_Missense_Mutation_p.Q279H	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCGGCAGCTCCTGGGCCTTCA	0.607																																							uc001nrv.2		NA																	0				ovary(3)|pancreas(1)	4						c.(478-480)CAG>CAT		synaptotagmin VII							88.0	90.0	89.0					11																	61295529		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295529C>A	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.480G>T	11.37:g.61295529C>A	ENSP00000263846:p.Gln160His					SYT7_uc009ynr.2_Missense_Mutation_p.Q235H	p.Q160H	NM_004200	NP_004191	O43581	SYT7_HUMAN			5	486	-			160			C2 1.|Cytoplasmic (Potential).		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.480G>T	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030808	0.54790	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.44	2.49	0.30216	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052497	0.85682	D	0.000000	T	0.71409	0.3336	N	0.21448	0.665	0.80722	D	1	D;D	0.57571	0.959;0.98	P;D	0.66084	0.851;0.941	T	0.67189	-0.5733	10	0.32370	T	0.25	.	14.3501	0.66694	0.0:0.8582:0.0:0.1418	.	235;160	F5GZU9;O43581	.;SYT7_HUMAN	H	160;235;443;204;368;279;160	ENSP00000263846:Q160H;ENSP00000444201:Q235H;ENSP00000439694:Q443H;ENSP00000444568:Q204H;ENSP00000444019:Q368H;ENSP00000437720:Q279H;ENSP00000443576:Q160H	ENSP00000263846:Q160H	Q	-	3	2	SYT7	61052105	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.548000	0.36201	0.198000	0.20407	-1.134000	0.01955	CAG		0.607	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		52	66	1	0	1.35964e-18	0.00361	2.15825e-18	52	66				
INCENP	3619	broad.mit.edu	37	11	61898026	61898026	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:61898026A>T	ENST00000394818.3	+	4	1229	c.1027A>T	c.(1027-1029)Act>Tct	p.T343S	INCENP_ENST00000278849.4_Missense_Mutation_p.T343S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	343					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCAAGAAGACTGCCGAAGA	0.607																																							uc001nsw.1		NA																	0				lung(1)	1						c.(1027-1029)ACT>TCT		inner centromere protein antigens 135/155kDa							42.0	43.0	43.0					11																	61898026		2202	4297	6499	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61898026A>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1027A>T	11.37:g.61898026A>T	ENSP00000378295:p.Thr343Ser					INCENP_uc009ynv.2_Missense_Mutation_p.T343S|INCENP_uc009ynw.1_Missense_Mutation_p.T343S|INCENP_uc001nsx.1_Missense_Mutation_p.T343S	p.T343S	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			4	1229	+			343					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1027A>T	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	A	7.205	0.594170	0.13875	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.12879	2.64;2.64	5.21	2.3	0.28687	.	0.421595	0.19717	N	0.107675	T	0.07683	0.0193	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24768	0.111;0.034;0.02	B;B;B	0.25291	0.017;0.059;0.027	T	0.41963	-0.9479	10	0.13108	T	0.6	.	7.0365	0.24996	0.2966:0.0:0.7034:0.0	.	343;343;343	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	S	343	ENSP00000378295:T343S;ENSP00000278849:T343S	ENSP00000278849:T343S	T	+	1	0	INCENP	61654602	0.000000	0.05858	0.008000	0.14137	0.741000	0.42261	-0.183000	0.09712	0.203000	0.20529	-0.464000	0.05259	ACT		0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		11	72	0	0	0	0.008291	0	11	72				
AHNAK	79026	broad.mit.edu	37	11	62288392	62288392	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62288392T>C	ENST00000378024.4	-	5	13771	c.13497A>G	c.(13495-13497)gaA>gaG	p.E4499E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4499					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAGCTTCCCTTCAGGACCTT	0.443																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13495-13497)GAA>GAG		AHNAK nucleoprotein isoform 1							80.0	76.0	77.0					11																	62288392		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62288392T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13497A>G	11.37:g.62288392T>C						AHNAK_uc001ntk.1_Intron	p.E4499E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13797	-		Melanoma(852;0.155)	4499					A1A586	Silent	SNP	ENST00000378024.4	37	c.13497A>G	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		13	105	0	0	0	0.001368	0	13	105				
AHNAK	79026	broad.mit.edu	37	11	62294707	62294707	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62294707G>T	ENST00000378024.4	-	5	7456	c.7182C>A	c.(7180-7182)caC>caA	p.H2394Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2394					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCTCTTCAAGTGTAGATCGA	0.483																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7180-7182)CAC>CAA		AHNAK nucleoprotein isoform 1							76.0	80.0	79.0					11																	62294707		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294707G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7182C>A	11.37:g.62294707G>T	ENSP00000367263:p.His2394Gln					AHNAK_uc001ntk.1_Intron	p.H2394Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7482	-		Melanoma(852;0.155)	2394					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7182C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	7.866	0.727122	0.15439	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00856	5.61	3.17	1.24	0.21308	.	.	.	.	.	T	0.02230	0.0069	M	0.85099	2.735	0.25905	N	0.983309	P	0.47302	0.893	B	0.43990	0.438	T	0.34477	-0.9827	9	0.62326	D	0.03	.	7.1877	0.25809	0.3178:0.0:0.6822:0.0	.	2394	Q09666	AHNK_HUMAN	Q	483;2394	ENSP00000367263:H2394Q	ENSP00000244934:H483Q	H	-	3	2	AHNAK	62051283	0.000000	0.05858	0.980000	0.43619	0.370000	0.29829	-0.084000	0.11268	0.692000	0.31613	0.473000	0.43528	CAC		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		54	72	1	0	1.86277e-20	0.00361	3.05998e-20	54	72				
UBXN1	51035	broad.mit.edu	37	11	62446030	62446030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62446030C>G	ENST00000301935.5	-	3	323	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Missense_Mutation_p.E53Q|UBXN1_ENST00000529640.1_Missense_Mutation_p.E53Q|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	53	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						AGGGGAGTCTCTAAAGGCTCG	0.617																																							uc001nul.1		NA																	0					0						c.(157-159)GAG>CAG		UBX domain protein 1							71.0	74.0	73.0					11																	62446030		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62446030C>G		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.157G>C	11.37:g.62446030C>G	ENSP00000303991:p.Glu53Gln					UBXN1_uc001nuj.2_Missense_Mutation_p.E53Q|UBXN1_uc001num.1_Missense_Mutation_p.E53Q|UBXN1_uc001nuk.2_Missense_Mutation_p.E18Q|UBXN1_uc010rme.1_Missense_Mutation_p.E53Q|UBXN1_uc010rmf.1_Missense_Mutation_p.E53Q	p.E53Q	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			3	289	-			53			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.157G>C		.	.	.	.	.	.	.	.	.	.	C	10.17	1.277600	0.23307	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.51	-0.289	0.12851	UBA-like (1);	0.576238	0.19180	N	0.120720	T	0.10423	0.0255	N	0.11427	0.14	0.09310	N	1	B;B;B;B;B	0.17268	0.002;0.001;0.021;0.009;0.0	B;B;B;B;B	0.17433	0.002;0.001;0.013;0.018;0.001	T	0.30650	-0.9971	10	0.24483	T	0.36	0.2053	12.4609	0.55731	0.1199:0.3799:0.5002:0.0	.	53;53;53;53;53	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	Q	53	ENSP00000294119:E53Q;ENSP00000303991:E53Q;ENSP00000435964:E53Q;ENSP00000435625:E53Q	ENSP00000294119:E53Q	E	-	1	0	UBXN1	62202606	0.001000	0.12720	0.000000	0.03702	0.967000	0.64934	0.710000	0.25748	0.059000	0.16252	0.655000	0.94253	GAG		0.617	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		5	92	0	0	0	0.000602	0	5	92				
PCNXL3	399909	broad.mit.edu	37	11	65387893	65387893	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:65387893G>A	ENST00000355703.3	+	9	2631	c.2092G>A	c.(2092-2094)Gga>Aga	p.G698R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	698						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACAGCTAATGGAGCCTGGTG	0.612																																							uc001oey.2		NA																	0					0						c.(2092-2094)GGA>AGA		pecanex-like 3							35.0	39.0	38.0					11																	65387893		2016	4180	6196	SO:0001583	missense	399909					integral to membrane		g.chr11:65387893G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2092G>A	11.37:g.65387893G>A	ENSP00000347931:p.Gly698Arg						p.G698R	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			9	2092	+			698					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.2092G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841371	0.32513	.	.	ENSG00000197136	ENST00000355703	T	0.34072	1.38	5.95	5.95	0.96441	.	0.000000	0.37761	N	0.001952	T	0.48642	0.1511	L	0.29908	0.895	0.34758	D	0.732416	D	0.89917	1.0	D	0.83275	0.996	T	0.54721	-0.8251	10	0.40728	T	0.16	.	15.8776	0.79178	0.0:0.0:1.0:0.0	.	698	Q9H6A9	PCX3_HUMAN	R	698	ENSP00000347931:G698R	ENSP00000347931:G698R	G	+	1	0	PCNXL3	65144469	0.998000	0.40836	0.962000	0.40283	0.685000	0.39939	3.253000	0.51469	2.819000	0.97034	0.655000	0.94253	GGA		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		14	29	0	0	0	0.00245	0	14	29				
NPAS4	266743	broad.mit.edu	37	11	66191660	66191660	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:66191660C>G	ENST00000311034.2	+	7	1475	c.1299C>G	c.(1297-1299)ggC>ggG	p.G433G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	433					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCAGGAGGCTGTGCCTTCC	0.557																																							uc001ohx.1		NA																	0					0						c.(1297-1299)GGC>GGG		neuronal PAS domain protein 4							186.0	181.0	183.0					11																	66191660		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191660C>G	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1299C>G	11.37:g.66191660C>G						NPAS4_uc010rpc.1_Silent_p.G223G	p.G433G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1475	+			433					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1299C>G	CCDS8138.1																																																																																				0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		80	160	0	0	0	0.00361	0	80	160				
DPP3	10072	broad.mit.edu	37	11	66276549	66276549	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:66276549G>T	ENST00000360510.2	+	18	2106		c.e18-1		DPP3_ENST00000530165.1_Splice_Site|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site|DPP3_ENST00000532677.1_Splice_Site|BBS1_ENST00000455748.2_5'Flank|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000531863.1_Splice_Site|CTD-3074O7.11_ENST00000419755.3_5'Flank|BBS1_ENST00000393994.2_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCCTCCCCAGGCTCAGACGT	0.493																																							uc001oig.1		NA																	0				ovary(1)|skin(1)	2						c.e18-1		dipeptidyl peptidase III							78.0	81.0	80.0					11																	66276549		2200	4295	6495	SO:0001630	splice_region_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276549G>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2042-1G>T	11.37:g.66276549G>T						DPP3_uc001oif.1_Splice_Site_p.G681_splice|DPP3_uc010rpe.1_Splice_Site_p.G670_splice|DPP3_uc001oih.1_Splice_Site_p.A49_splice|BBS1_uc001oii.1_5'Flank|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank	p.G681_splice	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			18	2104	+								B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Splice_Site	SNP	ENST00000360510.2	37	c.2042_splice	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714399	0.30413	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5126	0.67797	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP3	66033125	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	5.786000	0.69006	2.498000	0.84270	0.555000	0.69702	.		0.493	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		Intron	13	120	1	0	9.16793e-09	0.00499	1.21701e-08	13	120				
KRTAP5-11	440051	broad.mit.edu	37	11	71293437	71293437	+	Silent	SNP	G	G	T	rs372253410		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:71293437G>T	ENST00000398530.1	-	1	484	c.447C>A	c.(445-447)ccC>ccA	p.P149P	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	149	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCAGCACACGGGGACAcagc	0.557																																							uc001oqu.2		NA																	0					0						c.(445-447)CCC>CCA		keratin associated protein 5-11							78.0	85.0	83.0					11																	71293437		2200	4293	6493	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293437G>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.447C>A	11.37:g.71293437G>T							p.P149P	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	485	-			149			6.|6 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000398530.1	37	c.447C>A	CCDS41685.1																																																																																				0.557	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		21	140	1	0	2.27731e-05	0.001882	2.67043e-05	21	140				
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:73768561C>A	ENST00000334126.7	-	25	5206	c.4980G>T	c.(4978-4980)tcG>tcT	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448																																							uc001ouu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(2)|skin(1)	7						c.(4978-4980)TCG>TCT		C2 calcium-dependent domain containing 3							110.0	109.0	110.0					11																	73768561		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73768561C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4980G>T	11.37:g.73768561C>A						C2CD3_uc001out.2_RNA	p.S1660S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			25	5207	-	Breast(11;4.16e-06)		1660			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.4980G>T																																																																																					0.448	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		20	138	1	0	1.64113e-05	0.010504	1.93346e-05	20	138				
C11orf30	56946	broad.mit.edu	37	11	76174925	76174925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:76174925G>T	ENST00000529032.1	+	6	632	c.632G>T	c.(631-633)aGc>aTc	p.S211I	C11orf30_ENST00000525038.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524490.1_Missense_Mutation_p.S212I|C11orf30_ENST00000334736.3_Missense_Mutation_p.S211I|C11orf30_ENST00000525919.1_Missense_Mutation_p.S212I|C11orf30_ENST00000524767.1_Missense_Mutation_p.S226I|C11orf30_ENST00000533248.1_Missense_Mutation_p.S225I|C11orf30_ENST00000343878.3_Missense_Mutation_p.S211I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	211	Interaction with BRCA2.|Poly-Ser.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AACTCTTCCAGCTCCTCTCCT	0.448																																							uc001oxl.2		NA																	0				ovary(5)|skin(1)	6						c.(631-633)AGC>ATC		EMSY protein							176.0	178.0	178.0					11																	76174925		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76174925G>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.632G>T	11.37:g.76174925G>T	ENSP00000432327:p.Ser211Ile					C11orf30_uc009yuj.1_Missense_Mutation_p.S226I|C11orf30_uc010rsa.1_Missense_Mutation_p.S161I|C11orf30_uc001oxm.2_Missense_Mutation_p.S212I|C11orf30_uc010rsb.1_Missense_Mutation_p.S226I|C11orf30_uc010rsc.1_Missense_Mutation_p.S226I|C11orf30_uc001oxn.2_Missense_Mutation_p.S212I|C11orf30_uc010rsd.1_Missense_Mutation_p.S225I	p.S211I	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			7	775	+			211			Interaction with BRCA2.|Poly-Ser.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.632G>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150098	0.78001	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.999;0.999;0.998;0.995;0.998	D;D;D;D;D;D;D;D	0.83275	0.986;0.986;0.986;0.996;0.996;0.991;0.986;0.991	T	0.58053	-0.7704	10	0.66056	D	0.02	-4.8877	19.6753	0.95930	0.0:0.0:1.0:0.0	.	225;226;226;211;161;212;212;211	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	I	212;211;211;161;226;225;212;226;211	ENSP00000431166:S212I;ENSP00000334130:S211I;ENSP00000344688:S211I;ENSP00000433205:S226I;ENSP00000433634:S225I;ENSP00000432010:S212I;ENSP00000436968:S226I;ENSP00000432327:S211I	ENSP00000334130:S211I	S	+	2	0	C11orf30	75852573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	AGC		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		73	118	1	0	1.92865e-43	0.00361	3.38186e-43	73	118				
TENM4	26011	broad.mit.edu	37	11	78369392	78369392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:78369392C>A	ENST00000278550.7	-	34	8483	c.8021G>T	c.(8020-8022)tGc>tTc	p.C2674F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2674					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTGTTCAAGCACAGTGCCCC	0.602																																							uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(8020-8022)TGC>TTC		odz, odd Oz/ten-m homolog 4							66.0	71.0	69.0					11																	78369392		2129	4243	6372	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369392C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8021G>T	11.37:g.78369392C>A	ENSP00000278550:p.Cys2674Phe					ODZ4_uc001ozk.3_Missense_Mutation_p.C899F|ODZ4_uc009yvb.1_Intron	p.C2674F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8484	-			2674			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8021G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904793	0.33628	.	.	ENSG00000149256	ENST00000278550	D	0.89270	-2.49	5.58	4.65	0.58169	.	0.214763	0.49305	D	0.000156	D	0.83626	0.5295	L	0.39898	1.24	0.39644	D	0.970364	B	0.26318	0.146	B	0.16722	0.016	T	0.80395	-0.1400	9	.	.	.	.	15.8468	0.78899	0.1366:0.8634:0.0:0.0	.	2674	Q6N022	TEN4_HUMAN	F	2674	ENSP00000278550:C2674F	.	C	-	2	0	ODZ4	78047040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.365000	0.34182	1.545000	0.49373	0.655000	0.94253	TGC		0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			12	13	1	0	3.07112e-06	0.000978	3.69318e-06	12	13				
PCF11	51585	broad.mit.edu	37	11	82877481	82877481	+	Silent	SNP	G	G	T	rs542554229		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:82877481G>T	ENST00000298281.4	+	5	1994	c.1542G>T	c.(1540-1542)tcG>tcT	p.S514S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	514					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S514S(1)|p.S613S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTCCAACATCGACACCTAAAG	0.448																																							uc001ozx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1540-1542)TCG>TCT		pre-mRNA cleavage complex II protein Pcf11							128.0	121.0	123.0					11																	82877481		1963	4157	6120	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877481G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1542G>T	11.37:g.82877481G>T						PCF11_uc010rsu.1_Silent_p.S514S	p.S514S	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1887	+			514					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.1542G>T	CCDS44689.1																																																																																				0.448	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		38	117	1	0	8.16277e-20	0.006999	1.32932e-19	38	117				
TYR	7299	broad.mit.edu	37	11	88911891	88911891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:88911891C>A	ENST00000263321.5	+	1	1272	c.770C>A	c.(769-771)cCc>cAc	p.P257H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	257					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGTCAGCACCCCACAAATCCT	0.453																																							uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(769-771)CCC>CAC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						116.0	98.0	104.0					11																	88911891		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911891C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.770C>A	11.37:g.88911891C>A	ENSP00000263321:p.Pro257His						p.P257H	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	852	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	257			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.770C>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793526	0.50102	.	.	ENSG00000077498	ENST00000263321	D	0.98958	-5.27	6.07	5.16	0.70880	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.261530	0.45606	D	0.000357	D	0.99351	0.9772	M	0.93197	3.39	0.51482	D	0.999924	D	0.69078	0.997	D	0.70935	0.971	D	0.98481	1.0605	9	.	.	.	.	17.4971	0.87720	0.0:0.876:0.124:0.0	.	257	P14679	TYRO_HUMAN	H	257	ENSP00000263321:P257H	.	P	+	2	0	TYR	88551539	0.978000	0.34361	0.937000	0.37676	0.441000	0.31987	4.520000	0.60524	1.563000	0.49615	0.655000	0.94253	CCC		0.453	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		32	90	1	0	9.65021e-13	0.002096	1.40468e-12	32	90				
FAT3	120114	broad.mit.edu	37	11	92086401	92086401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92086401A>T	ENST00000298047.6	+	1	1140	c.1123A>T	c.(1123-1125)Aga>Tga	p.R375*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R375*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R225*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R375*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	375	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCCCCATTAGATTTGAAAA	0.418										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(1123-1125)AGA>TGA		FAT tumor suppressor homolog 3							82.0	77.0	78.0					11																	92086401		1892	4129	6021	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086401A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1123A>T	11.37:g.92086401A>T	ENSP00000298047:p.Arg375*	TCGA Ovarian(4;0.039)					p.R375*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1140	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	375			Cadherin 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.1123A>T		.	.	.	.	.	.	.	.	.	.	A	37	6.226913	0.97394	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	4.9	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	11.1395	0.48394	0.8451:0.1549:0.0:0.0	.	.	.	.	X	375;375;375;225	.	ENSP00000298047:R375X	R	+	1	2	FAT3	91726049	0.052000	0.20516	0.079000	0.20413	0.945000	0.59286	3.445000	0.52921	0.788000	0.33755	0.533000	0.62120	AGA		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	37	0	0	0	0.001855	0	12	37				
FAT3	120114	broad.mit.edu	37	11	92523266	92523266	+	Missense_Mutation	SNP	A	A	T	rs200132252	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92523266A>T	ENST00000298047.6	+	7	4510	c.4493A>T	c.(4492-4494)cAt>cTt	p.H1498L	FAT3_ENST00000409404.2_Missense_Mutation_p.H1498L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1348L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1498	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACACTGTTCATAGCAGCATC	0.512										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4492-4494)CAT>CTT		FAT tumor suppressor homolog 3							195.0	188.0	190.0					11																	92523266		2102	4239	6341	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523266A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4493A>T	11.37:g.92523266A>T	ENSP00000298047:p.His1498Leu	TCGA Ovarian(4;0.039)					p.H1498L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4510	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1498			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4493A>T		.	.	.	.	.	.	.	.	.	.	A	12.71	2.018429	0.35606	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50277	0.75;0.75;0.75	6.17	6.17	0.99709	.	.	.	.	.	T	0.28896	0.0717	N	0.08118	0	0.80722	D	1	P	0.44044	0.825	B	0.40375	0.327	T	0.16276	-1.0408	9	0.09338	T	0.73	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1498	Q8TDW7-3	.	L	1498;1498;1348	ENSP00000298047:H1498L;ENSP00000387040:H1498L;ENSP00000432586:H1348L	ENSP00000298047:H1498L	H	+	2	0	FAT3	92162914	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.909000	0.69923	2.371000	0.80710	0.533000	0.62120	CAT		0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		41	171	0	0	0	0.00874	0	41	171				
FAT3	120114	broad.mit.edu	37	11	92531031	92531031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92531031C>A	ENST00000298047.6	+	9	4869	c.4852C>A	c.(4852-4854)Ccg>Acg	p.P1618T	FAT3_ENST00000409404.2_Missense_Mutation_p.P1618T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1618	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAGATCGAACCGGTCCTAGG	0.418										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4852-4854)CCG>ACG		FAT tumor suppressor homolog 3							111.0	106.0	108.0					11																	92531031		1984	4163	6147	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531031C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4852C>A	11.37:g.92531031C>A	ENSP00000298047:p.Pro1618Thr	TCGA Ovarian(4;0.039)					p.P1618T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	4869	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1618			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4852C>A		.	.	.	.	.	.	.	.	.	.	C	16.80	3.223367	0.58668	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50548	0.74;0.74;0.74	5.81	5.81	0.92471	.	.	.	.	.	T	0.70902	0.3277	M	0.82056	2.57	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.69702	-0.5074	9	0.42905	T	0.14	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	1618	Q8TDW7-3	.	T	1618;1618;1468	ENSP00000298047:P1618T;ENSP00000387040:P1618T;ENSP00000432586:P1468T	ENSP00000298047:P1618T	P	+	1	0	FAT3	92170679	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	6.033000	0.70925	2.755000	0.94549	0.650000	0.86243	CCG		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		21	109	1	0	2.21704e-12	0.00278	3.19626e-12	21	109				
FAT3	120114	broad.mit.edu	37	11	92616355	92616355	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92616355T>A	ENST00000298047.6	+	23	12750	c.12733T>A	c.(12733-12735)Tcc>Acc	p.S4245T	FAT3_ENST00000409404.2_Missense_Mutation_p.S4245T|FAT3_ENST00000525166.1_Missense_Mutation_p.S4095T|FAT3_ENST00000533797.1_Missense_Mutation_p.S580T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4245					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGAGTGACTCCAGGAGCAA	0.677										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12733-12735)TCC>ACC		FAT tumor suppressor homolog 3							72.0	87.0	82.0					11																	92616355		2088	4193	6281	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616355T>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12733T>A	11.37:g.92616355T>A	ENSP00000298047:p.Ser4245Thr	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.S685T	p.S4245T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12750	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4245			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12733T>A		.	.	.	.	.	.	.	.	.	.	T	16.65	3.182227	0.57800	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86627	-0.88;-0.99;-0.89;-2.15	5.85	5.85	0.93711	.	.	.	.	.	D	0.87160	0.6108	M	0.79926	2.475	0.80722	D	1	B;B	0.31227	0.314;0.008	B;B	0.23419	0.046;0.033	D	0.85690	0.1306	9	0.41790	T	0.15	.	16.2309	0.82343	0.0:0.0:0.0:1.0	.	4245;4245	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4245;4245;4095;580	ENSP00000298047:S4245T;ENSP00000387040:S4245T;ENSP00000432586:S4095T;ENSP00000436399:S580T	ENSP00000298047:S4245T	S	+	1	0	FAT3	92256003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	2.235000	0.73313	0.533000	0.62120	TCC		0.677	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		42	179	0	0	0	0.002852	0	42	179				
CNTN5	53942	broad.mit.edu	37	11	100061934	100061934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:100061934G>T	ENST00000524871.1	+	14	1947	c.1657G>T	c.(1657-1659)Ggg>Tgg	p.G553W	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.G479W|CNTN5_ENST00000527185.1_Missense_Mutation_p.G553W|CNTN5_ENST00000279463.3_Missense_Mutation_p.G553W|CNTN5_ENST00000528682.1_Missense_Mutation_p.G553W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	553	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGTTTGCCGAGGGGAAAACGT	0.393																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1657-1659)GGG>TGG		contactin 5 isoform long							70.0	73.0	72.0					11																	100061934		1834	4083	5917	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100061934G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1657G>T	11.37:g.100061934G>T	ENSP00000435637:p.Gly553Trp					CNTN5_uc009ywv.1_Missense_Mutation_p.G553W|CNTN5_uc001pfz.2_Missense_Mutation_p.G553W|CNTN5_uc001pgb.2_Missense_Mutation_p.G479W|CNTN5_uc010ruk.1_Translation_Start_Site	p.G553W	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	14	1996	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	553			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1657G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090687	0.76756	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044961	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.53688	D	0.999975	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.72625	0.978;0.963;0.978	T	0.80970	-0.1144	10	0.87932	D	0	.	18.7762	0.91912	0.0:0.0:1.0:0.0	.	553;479;553	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	W	553;553;553;479;553	ENSP00000433575:G553W;ENSP00000436185:G553W;ENSP00000435637:G553W;ENSP00000393229:G479W;ENSP00000279463:G553W	ENSP00000279463:G553W	G	+	1	0	CNTN5	99567144	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	5.874000	0.69652	2.758000	0.94735	0.650000	0.86243	GGG		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		14	49	1	0	2.61681e-11	0.00245	3.72279e-11	14	49				
GUCY1A2	2977	broad.mit.edu	37	11	106681097	106681097	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:106681097T>C	ENST00000526355.2	-	5	1782	c.1314A>G	c.(1312-1314)ctA>ctG	p.L438L	GUCY1A2_ENST00000347596.2_Silent_p.L459L|GUCY1A2_ENST00000282249.2_Silent_p.L438L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	438					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.L438L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTGAGAGATGTAGCCCTCGGC	0.448																																							uc001pjg.1		NA																	1	Substitution - coding silent(1)		kidney(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1312-1314)CTA>CTG		guanylate cyclase 1, soluble, alpha 2							102.0	101.0	101.0					11																	106681097		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681097T>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1314A>G	11.37:g.106681097T>C						GUCY1A2_uc010rvo.1_Silent_p.L459L|GUCY1A2_uc009yxn.1_Silent_p.L438L	p.L438L	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1704	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	438					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.1314A>G	CCDS8335.1																																																																																				0.448	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			21	88	0	0	0	0.002299	0	21	88				
EXPH5	23086	broad.mit.edu	37	11	108382102	108382102	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:108382102C>G	ENST00000265843.4	-	6	4242	c.4132G>C	c.(4132-4134)Gat>Cat	p.D1378H	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1302H|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1371H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1190H	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1378					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTTCTGAATCACCTAGAGGT	0.373																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(4132-4134)GAT>CAT		exophilin 5 isoform a							59.0	58.0	58.0					11																	108382102		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382102C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4132G>C	11.37:g.108382102C>G	ENSP00000265843:p.Asp1378His					EXPH5_uc010rvy.1_Missense_Mutation_p.D1190H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1222H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1302H	p.D1378H	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4243	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1378					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4132G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907940	0.52333	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.06218	4.18;4.11;3.96;4.18;4.02;3.33	6.08	1.21	0.21127	.	0.946580	0.08885	N	0.879397	T	0.17874	0.0429	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.19712	-1.0297	10	0.52906	T	0.07	-2.3205	9.6212	0.39723	0.0:0.5717:0.0:0.4283	.	1378	Q8NEV8	EXPH5_HUMAN	H	1378;1302;1190;1371;1302;1190	ENSP00000265843:D1378H;ENSP00000391966:D1302H;ENSP00000411390:D1190H;ENSP00000432546:D1371H;ENSP00000432683:D1302H;ENSP00000446434:D1190H	ENSP00000265843:D1378H	D	-	1	0	EXPH5	107887312	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.681000	0.05191	-0.015000	0.14150	-0.918000	0.02743	GAT		0.373	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		28	67	0	0	0	0.00632	0	28	67				
DDX10	1662	broad.mit.edu	37	11	108810978	108810978	+	Missense_Mutation	SNP	C	C	T	rs191588784		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:108810978C>T	ENST00000322536.3	+	18	2585	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	819					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACCAGTGATACCAAGAAGAAG	0.393			T	NUP98	AML*								C|||	1	0.000199681	0.0	0.0	5008	,	,		21180	0.001		0.0	False		,,,				2504	0.0						uc001pkm.2		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(2455-2457)ACC>ATC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							70.0	65.0	67.0					11																	108810978		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108810978C>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2456C>T	11.37:g.108810978C>T	ENSP00000314348:p.Thr819Ile						p.T819I	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	18	2521	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	819					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.2456C>T	CCDS8342.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.220	0.039619	0.08148	.	.	ENSG00000178105	ENST00000322536;ENST00000456020	T	0.42131	0.98	6.07	4.2	0.49525	.	0.642487	0.15549	N	0.256507	T	0.27832	0.0685	N	0.19112	0.55	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.06499	-1.0823	10	0.37606	T	0.19	-3.4243	9.7994	0.40755	0.0:0.838:0.0:0.162	.	819	Q13206	DDX10_HUMAN	I	819;725	ENSP00000314348:T819I	ENSP00000314348:T819I	T	+	2	0	DDX10	108316188	0.054000	0.20591	1.000000	0.80357	0.084000	0.17831	0.086000	0.14935	1.586000	0.49944	0.655000	0.94253	ACC		0.393	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		5	68	0	0	0	0.000602	0	5	68				
NCAM1	4684	broad.mit.edu	37	11	113078056	113078056	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:113078056G>C	ENST00000533760.1	+	6	947	c.348G>C	c.(346-348)gtG>gtC	p.V116V	NCAM1_ENST00000401611.2_Silent_p.V233V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.V224V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	234	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCACCCTGGTGTGCGATGCCG	0.537																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(346-348)GTG>GTC		neural cell adhesion molecule 1 isoform 3							87.0	89.0	88.0					11																	113078056		2027	4163	6190	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078056G>C		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.348G>C	11.37:g.113078056G>C						NCAM1_uc001pno.2_Silent_p.V116V	p.V116V	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	1042	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	234			Ig-like C2-type 3.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.348G>C																																																																																					0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		26	85	0	0	0	0.00632	0	26	85				
HTR3B	9177	broad.mit.edu	37	11	113815415	113815415	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:113815415G>C	ENST00000260191.2	+	8	1285	c.1028G>C	c.(1027-1029)cGa>cCa	p.R343P	HTR3B_ENST00000537778.1_Missense_Mutation_p.R332P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	343					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TTGTGCCTTCGAGGGGACACC	0.552																																							uc001pok.2		NA																	0					0						c.(1027-1029)CGA>CCA		5-hydroxytryptamine (serotonin) receptor 3B							192.0	157.0	169.0					11																	113815415		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815415G>C	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1028G>C	11.37:g.113815415G>C	ENSP00000260191:p.Arg343Pro					HTR3B_uc001pol.2_Missense_Mutation_p.R332P	p.R343P	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1095	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	343			Cytoplasmic (Potential).		B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.1028G>C	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535359	0.45176	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.22336	1.96;1.96	5.11	-10.2	0.00374	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.247540	0.05351	N	0.531913	T	0.22742	0.0549	L	0.44542	1.39	0.09310	N	1	P;P	0.49635	0.926;0.564	P;B	0.54499	0.754;0.15	T	0.34403	-0.9830	10	0.27785	T	0.31	7.8373	8.6128	0.33813	0.5301:0.1764:0.2935:0.0	.	332;343	O95264-2;O95264	.;5HT3B_HUMAN	P	343;332	ENSP00000260191:R343P;ENSP00000443118:R332P	ENSP00000260191:R343P	R	+	2	0	HTR3B	113320625	0.018000	0.18449	0.001000	0.08648	0.007000	0.05969	-0.900000	0.04097	-2.244000	0.00706	-1.058000	0.02302	CGA		0.552	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		35	92	0	0	0	0.003755	0	35	92				
SIK3	23387	broad.mit.edu	37	11	116729004	116729004	+	Silent	SNP	T	T	C	rs536178660	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:116729004T>C	ENST00000292055.4	-	20	2894	c.2859A>G	c.(2857-2859)caA>caG	p.Q953Q	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Silent_p.Q893Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.Q951Q|SIK3_ENST00000434315.2_Silent_p.Q792Q|SIK3_ENST00000375288.1_Silent_p.Q288Q|SIK3_ENST00000375300.1_Silent_p.Q1011Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	953	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATTCTtgctgttgctgctgtt	0.592																																							uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2857-2859)CAA>CAG		serine/threonine-protein kinase QSK							44.0	42.0	43.0					11																	116729004		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729004T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2859A>G	11.37:g.116729004T>C						SIK3_uc001ppz.2_Silent_p.Q792Q|SIK3_uc001pqa.2_Silent_p.Q893Q|SIK3_uc001ppw.2_Silent_p.Q310Q|SIK3_uc001ppx.2_Silent_p.Q331Q|SIK3_uc001pqb.2_Silent_p.Q256Q	p.Q953Q	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	2895	-			953			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.2859A>G	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.408778	0.01155	.	.	ENSG00000160584	ENST00000445177;ENST00000446921	.	.	.	5.22	1.06	0.20224	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	.	7.683	0.28524	0.0:0.6444:0.0:0.3556	.	.	.	.	A	1053;916	.	.	T	-	1	0	SIK3	116234214	0.924000	0.31332	0.979000	0.43373	0.091000	0.18340	-0.248000	0.08854	-0.034000	0.13713	-1.064000	0.02280	ACA		0.592	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		5	45	0	0	0	0.000602	0	5	45				
PCSK7	9159	broad.mit.edu	37	11	117100470	117100470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:117100470G>T	ENST00000320934.3	-	3	721	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	RNF214_ENST00000531287.1_5'Flank|RNF214_ENST00000531452.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	31					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CAGGGAACCAGTAAGAAGAGC	0.652			T	IGH@	MLCLS																																		uc001pqr.2		NA		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0					0						c.(91-93)CTG>ATG		proprotein convertase subtilisin/kexin type 7							19.0	22.0	21.0					11																	117100470		2197	4295	6492	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117100470G>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.91C>A	11.37:g.117100470G>T	ENSP00000325917:p.Leu31Met					RNF214_uc001pqt.2_5'Flank|RNF214_uc001pqu.2_5'Flank|RNF214_uc010rxf.1_5'Flank	p.L31M	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	3	292	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	31					B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.91C>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585464	0.28268	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027;ENST00000524507;ENST00000532301;ENST00000530269	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.21	1.02	0.19986	.	0.421453	0.19584	N	0.110770	T	0.46983	0.1421	M	0.65498	2.005	0.80722	D	1	P	0.52316	0.952	P	0.52267	0.694	T	0.45877	-0.9231	10	0.41790	T	0.15	-10.971	0.6608	0.00842	0.2305:0.1925:0.3787:0.1983	.	31	Q16549	PCSK7_HUMAN	M	31	ENSP00000325917:L31M;ENSP00000431181:L31M;ENSP00000433841:L31M;ENSP00000436459:L31M;ENSP00000433252:L31M	ENSP00000325917:L31M	L	-	1	2	PCSK7	116605680	0.064000	0.20934	0.970000	0.41538	0.986000	0.74619	0.385000	0.20685	0.418000	0.25898	0.462000	0.41574	CTG		0.652	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		14	37	1	0	7.93312e-07	0.00245	9.75787e-07	14	37				
ATP5L	10632	broad.mit.edu	37	11	118279722	118279722	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:118279722T>A	ENST00000300688.3	+	3	733	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	74					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CAGGAAGCTGTGCTGAATGGT	0.333																																							uc001psx.2		NA																	0					0						c.(220-222)GTG>GAG		ATP synthase, H+ transporting, mitochondrial F0							118.0	105.0	110.0					11																	118279722		2200	4296	6496	SO:0001583	missense	10632				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	g.chr11:118279722T>A	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.221T>A	11.37:g.118279722T>A	ENSP00000300688:p.Val74Glu						p.V74E	NM_006476	NP_006467	O75964	ATP5L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)	3	498	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	74					A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	c.221T>A	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762912	0.69763	.	.	ENSG00000167283	ENST00000300688	.	.	.	5.62	4.49	0.54785	.	0.571959	0.18290	N	0.145731	T	0.67268	0.2875	M	0.80183	2.485	0.80722	D	1	P	0.37276	0.589	B	0.41813	0.367	T	0.66400	-0.5933	9	0.45353	T	0.12	-0.4412	11.2041	0.48758	0.0:0.0721:0.0:0.9279	.	74	O75964	ATP5L_HUMAN	E	74	.	ENSP00000300688:V74E	V	+	2	0	ATP5L	117784932	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.358000	0.79466	0.967000	0.38186	0.528000	0.53228	GTG		0.333	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476		5	69	0	0	0	0.000602	0	5	69				
C2CD2L	9854	broad.mit.edu	37	11	118983228	118983228	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:118983228C>T	ENST00000528586.1	+	5	435	c.365C>T	c.(364-366)tCc>tTc	p.S122F	C2CD2L_ENST00000336702.3_Missense_Mutation_p.S374F			O14523	C2C2L_HUMAN	C2CD2-like	374						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTGTGGGCTCCCCCTCCAGA	0.652																																							uc001pvo.2		NA																	0					0						c.(1120-1122)TCC>TTC		transmembrane protein 24							58.0	58.0	58.0					11																	118983228		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118983228C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.365C>T	11.37:g.118983228C>T	ENSP00000433600:p.Ser122Phe					C2CD2L_uc001pvn.2_Missense_Mutation_p.S374F	p.S374F	NM_014807	NP_055622	O14523	C2C2L_HUMAN			9	1480	+			374					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1121C>T		.	.	.	.	.	.	.	.	.	.	C	14.68	2.607203	0.46527	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.42900	0.96;0.96	5.08	4.17	0.49024	C2 calcium/lipid-binding domain, CaLB (1);	0.243264	0.42964	D	0.000633	T	0.36220	0.0959	L	0.29908	0.895	0.39162	D	0.962421	B;B	0.26081	0.141;0.141	B;B	0.34590	0.186;0.186	T	0.37126	-0.9719	10	0.56958	D	0.05	-25.9378	12.7526	0.57316	0.0:0.9211:0.0:0.0789	.	374;374	O14523;O14523-2	C2C2L_HUMAN;.	F	374;122	ENSP00000338885:S374F;ENSP00000433600:S122F	ENSP00000338885:S374F	S	+	2	0	C2CD2L	118488438	0.410000	0.25376	1.000000	0.80357	0.983000	0.72400	2.397000	0.44477	1.386000	0.46466	0.655000	0.94253	TCC		0.652	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		10	169	0	0	0	0.008291	0	10	169				
HINFP	25988	broad.mit.edu	37	11	119002578	119002578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:119002578G>T	ENST00000350777.2	+	5	625	c.562G>T	c.(562-564)Gag>Tag	p.E188*	HINFP_ENST00000527410.1_Nonsense_Mutation_p.E188*|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	188					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAAACTTCGAGAGCACCTCCG	0.547																																							uc001pvp.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(562-564)GAG>TAG		MBD2 (methyl-CpG-binding protein)-interacting							66.0	64.0	64.0					11																	119002578		2200	4295	6495	SO:0001587	stop_gained	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119002578G>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.562G>T	11.37:g.119002578G>T	ENSP00000318085:p.Glu188*					HINFP_uc001pvq.2_Nonsense_Mutation_p.E188*|HINFP_uc001pvr.2_5'UTR	p.E188*	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			6	751	+			188			C2H2-type 3.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Nonsense_Mutation	SNP	ENST00000350777.2	37	c.562G>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398987	0.96030	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-28.1607	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000318085:E188X	E	+	1	0	HINFP	118507788	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GAG		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		23	57	1	0	2.21704e-12	0.00278	3.19626e-12	23	57				
PVRL1	5818	broad.mit.edu	37	11	119549368	119549368	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:119549368T>A	ENST00000264025.3	-	2	717	c.187A>T	c.(187-189)Acc>Tcc	p.T63S	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.T63S|PVRL1_ENST00000341398.2_Missense_Mutation_p.T63S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	63	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGACCTGGGTGATCTTCACG	0.597																																							uc001pwv.2		NA																	0					0						c.(187-189)ACC>TCC		poliovirus receptor-related 1 isoform 1							91.0	73.0	79.0					11																	119549368		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119549368T>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.187A>T	11.37:g.119549368T>A	ENSP00000264025:p.Thr63Ser					PVRL1_uc001pwu.1_Missense_Mutation_p.T63S|PVRL1_uc001pww.2_Missense_Mutation_p.T63S	p.T63S	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	2	359	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	63			Extracellular (Potential).|Ig-like V-type.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.187A>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823683	0.50739	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.64438	-0.1;-0.1;-0.1	5.55	5.55	0.83447	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.046039	0.85682	D	0.000000	T	0.43366	0.1244	N	0.12663	0.25	0.46542	D	0.999091	B;B;B	0.28584	0.177;0.212;0.216	B;B;B	0.26693	0.043;0.072;0.059	T	0.37820	-0.9689	9	.	.	.	.	14.8638	0.70399	0.0:0.0:0.0:1.0	.	63;63;63	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	S	63	ENSP00000344974:T63S;ENSP00000264025:T63S;ENSP00000345289:T63S	.	T	-	1	0	PVRL1	119054578	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.130000	0.71663	2.114000	0.64651	0.379000	0.24179	ACC		0.597	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			9	38	0	0	0	0.004482	0	9	38				
TECTA	7007	broad.mit.edu	37	11	120996267	120996267	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:120996267G>A	ENST00000392793.1	+	8	1731	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	TECTA_ENST00000264037.2_Missense_Mutation_p.G487E			O75443	TECTA_HUMAN	tectorin alpha	487	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGATCTGGGAGAGAGCTGG	0.577																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(1459-1461)GGA>GAA		tectorin alpha precursor							76.0	82.0	80.0					11																	120996267		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996267G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1460G>A	11.37:g.120996267G>A	ENSP00000376543:p.Gly487Glu						p.G487E	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1460	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	487			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1460G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995481	0.93167	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.46819	0.86;0.86	5.02	5.02	0.67125	von Willebrand factor, type D domain (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.92367	3.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83465	0.0056	10	0.87932	D	0	.	18.7031	0.91627	0.0:0.0:1.0:0.0	.	487	O75443	TECTA_HUMAN	E	487	ENSP00000376543:G487E;ENSP00000264037:G487E	ENSP00000264037:G487E	G	+	2	0	TECTA	120501477	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.812000	0.99227	2.511000	0.84671	0.563000	0.77884	GGA		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		7	179	0	0	0	0.00308	0	7	179				
CRTAM	56253	broad.mit.edu	37	11	122738173	122738173	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:122738173A>G	ENST00000227348.4	+	8	921	c.874A>G	c.(874-876)Acg>Gcg	p.T292A	CRTAM_ENST00000533709.1_Missense_Mutation_p.T93A	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCTGCTGCTCACGCTGGTGTC	0.413																																							uc001pyj.2		NA																	0				ovary(1)	1						c.(874-876)ACG>GCG		class-I MHC-restricted T cell associated							110.0	100.0	104.0					11																	122738173		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122738173A>G	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.874A>G	11.37:g.122738173A>G	ENSP00000227348:p.Thr292Ala					CRTAM_uc001pyk.2_Missense_Mutation_p.T93A	p.T292A	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	8	874	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	292			Helical; (Potential).			Missense_Mutation	SNP	ENST00000227348.4	37	c.874A>G	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741051	0.49151	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.56611	0.45;1.47	5.62	5.62	0.85841	.	0.281321	0.34088	N	0.004278	T	0.60971	0.2310	M	0.64997	1.995	0.29272	N	0.870605	P;D	0.58620	0.95;0.983	P;P	0.53313	0.684;0.723	T	0.61217	-0.7107	10	0.34782	T	0.22	.	13.7743	0.63044	1.0:0.0:0.0:0.0	.	93;292	O95727-2;O95727	.;CRTAM_HUMAN	A	292;93	ENSP00000227348:T292A;ENSP00000433728:T93A	ENSP00000227348:T292A	T	+	1	0	CRTAM	122243383	0.426000	0.25506	0.917000	0.36280	0.819000	0.46315	1.293000	0.33353	2.144000	0.66660	0.533000	0.62120	ACG		0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		6	43	0	0	0	0.001168	0	6	43				
GRAMD1B	57476	broad.mit.edu	37	11	123480527	123480527	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123480527A>C	ENST00000529750.1	+	12	1580	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K425T|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K418T|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K109T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	418						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCATGGAAAAAGGAGGAGAAT	0.527																																							uc001pyx.2		NA																	0				ovary(1)	1						c.(1252-1254)AAG>ACG		GRAM domain containing 1B							55.0	57.0	56.0					11																	123480527		1921	4130	6051	SO:0001583	missense	57476					integral to membrane		g.chr11:123480527A>C	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1253A>C	11.37:g.123480527A>C	ENSP00000436500:p.Lys418Thr					GRAMD1B_uc001pyw.2_Missense_Mutation_p.K425T|GRAMD1B_uc010rzw.1_Missense_Mutation_p.K378T|GRAMD1B_uc010rzx.1_Missense_Mutation_p.K378T|GRAMD1B_uc009zbe.1_Missense_Mutation_p.K414T|GRAMD1B_uc001pyy.2_Missense_Mutation_p.K109T	p.K418T	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	12	1582	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	418					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.1253A>C	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775750	0.70107	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764;ENST00000450171	T;T;T;T;T;T	0.45668	1.84;1.85;1.85;1.85;1.44;0.89	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.45285	1.41	0.80722	D	1	B;B;D;B;B	0.89917	0.286;0.409;1.0;0.181;0.136	B;B;D;B;B	0.85130	0.063;0.131;0.997;0.134;0.062	T	0.47058	-0.9146	10	0.17369	T	0.5	.	15.9765	0.80071	1.0:0.0:0.0:0.0	.	378;425;109;418;425	B7Z4N9;F5H572;Q3KR37-3;Q3KR37;E7EPH8	.;.;.;GRM1B_HUMAN;.	T	425;425;418;418;378;414;109	ENSP00000402457:K425T;ENSP00000325628:K418T;ENSP00000436500:K418T;ENSP00000432987:K378T;ENSP00000434214:K414T;ENSP00000388458:K109T	ENSP00000325628:K418T	K	+	2	0	GRAMD1B	122985737	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.307000	0.78920	2.172000	0.68678	0.533000	0.62120	AAG		0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		3	17	0	0	0	0.004672	0	3	17				
OR8D4	338662	broad.mit.edu	37	11	123777145	123777145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123777145G>T	ENST00000321355.2	+	1	37	c.7G>T	c.(7-9)Gta>Tta	p.V3L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGAATGGGTGTAAAAAACCA	0.378																																							uc010saa.1		NA																	0				skin(1)	1						c.(7-9)GTA>TTA		olfactory receptor, family 8, subfamily D,							54.0	52.0	52.0					11																	123777145		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777145G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.7G>T	11.37:g.123777145G>T	ENSP00000325381:p.Val3Leu						p.V3L	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	7	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	3			Extracellular (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.7G>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	g	9.668	1.145850	0.21288	.	.	ENSG00000181518	ENST00000321355	T	0.02944	4.1	5.33	-10.7	0.00240	.	2.254930	0.01889	N	0.038426	T	0.01222	0.0040	N	0.01779	-0.725	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	10	0.24483	T	0.36	.	10.0919	0.42451	0.2338:0.3034:0.4627:0.0	.	3	Q8NGM9	OR8D4_HUMAN	L	3	ENSP00000325381:V3L	ENSP00000325381:V3L	V	+	1	0	OR8D4	123282355	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.796000	0.00764	-2.722000	0.00388	-0.295000	0.09555	GTA		0.378	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		27	80	1	0	2.79863e-10	0.004656	3.86478e-10	27	80				
OR4D5	219875	broad.mit.edu	37	11	123810867	123810867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123810867C>A	ENST00000307033.2	+	1	618	c.544C>A	c.(544-546)Cct>Act	p.P182T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTGATGTGCCTCAGCTGAT	0.478																																							uc001pzk.1		NA																	0				ovary(1)	1						c.(544-546)CCT>ACT		olfactory receptor, family 4, subfamily D,							198.0	183.0	188.0					11																	123810867		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810867C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.544C>A	11.37:g.123810867C>A	ENSP00000305970:p.Pro182Thr						p.P182T	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	544	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	182			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.544C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444990	0.43429	.	.	ENSG00000171014	ENST00000307033	T	0.00211	8.54	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000191	T	0.00524	0.0017	M	0.77313	2.365	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.63897	-0.6533	10	0.24483	T	0.36	-13.8332	14.5488	0.68052	0.0:0.8536:0.1464:0.0	.	182	Q8NGN0	OR4D5_HUMAN	T	182	ENSP00000305970:P182T	ENSP00000305970:P182T	P	+	1	0	OR4D5	123316077	0.000000	0.05858	1.000000	0.80357	0.962000	0.63368	-0.604000	0.05667	2.566000	0.86566	0.644000	0.83932	CCT		0.478	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		38	165	1	0	5.43694e-19	0.005524	8.7014e-19	38	165				
ARHGAP32	9743	broad.mit.edu	37	11	128839516	128839516	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:128839516C>T	ENST00000310343.9	-	22	5549	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P	ARHGAP32_ENST00000392657.3_Silent_p.P1501P|ARHGAP32_ENST00000527272.1_Silent_p.P1501P|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1850	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATGGCTTCTCCGGCTGCGTGC	0.607																																							uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(5548-5550)CCG>CCA		Rho GTPase-activating protein isoform 1							56.0	52.0	53.0					11																	128839516		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839516C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5550G>A	11.37:g.128839516C>T						ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.P809P|ARHGAP32_uc001qez.2_Silent_p.P1501P	p.P1850P	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5550	-			1850			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.5550G>A	CCDS44769.1																																																																																				0.607	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		10	74	0	0	0	0.006214	0	10	74				
IGSF9B	22997	broad.mit.edu	37	11	133792462	133792462	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:133792462A>T	ENST00000321016.8	-	16	2512		c.e16+1		IGSF9B_ENST00000533871.2_Splice_Site			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B						homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACAGACACCCACCTTTTTTGC	0.557																																							uc001qgx.3		NA																	0					0						c.e16+1		immunoglobulin superfamily, member 9B							26.0	30.0	29.0					11																	133792462		2006	4167	6173	SO:0001630	splice_region_variant	22997					integral to membrane|plasma membrane		g.chr11:133792462A>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2281+1T>A	11.37:g.133792462A>T							p.D761_splice	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	16	2512	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)						G5EA26	Splice_Site	SNP	ENST00000321016.8	37	c.2281_splice		.	.	.	.	.	.	.	.	.	.	A	15.47	2.842472	0.51057	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9162	0.70798	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF9B	133297672	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	8.909000	0.92647	1.938000	0.56188	0.454000	0.30748	.		0.557	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	Intron	4	28	0	0	0	0.000602	0	4	28				
ANO2	57101	broad.mit.edu	37	12	5853336	5853336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:5853336G>T	ENST00000356134.5	-	13	1400	c.1329C>A	c.(1327-1329)ttC>ttA	p.F443L	ANO2_ENST00000327087.8_Missense_Mutation_p.F442L|ANO2_ENST00000546188.1_Missense_Mutation_p.F443L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	447					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAGAGCCATGAAGATAGAGA	0.542																																							uc001qnm.2		NA																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1324-1326)TTC>TTA		anoctamin 2							91.0	97.0	95.0					12																	5853336		2062	4213	6275	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853336G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1329C>A	12.37:g.5853336G>T	ENSP00000348453:p.Phe443Leu						p.F442L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			12	1398	-			447			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1326C>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.989204	0.93106	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66460	-0.21;-0.21;-0.21	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.78916	2.43	0.80722	D	1	D	0.53885	0.963	P	0.59595	0.86	T	0.79386	-0.1825	10	0.54805	T	0.06	.	11.9609	0.53007	0.0881:0.0:0.9119:0.0	.	442	Q9NQ90-3	.	L	442;443;443;447	ENSP00000314048:F442L;ENSP00000348453:F443L;ENSP00000440981:F443L	ENSP00000314048:F442L	F	-	3	2	ANO2	5723597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.117000	0.50407	2.721000	0.93114	0.655000	0.94253	TTC		0.542	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		15	41	1	0	3.41278e-10	0.00499	4.68714e-10	15	41				
LEPREL2	10536	broad.mit.edu	37	12	6942764	6942764	+	RNA	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:6942764G>C	ENST00000538102.1	+	0	439				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGGACCCCTGGACCCCTGCAG	0.557																																							uc001qra.1		NA																	0					0						c.(1219-1221)TGG>TGC		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						73.0	76.0	75.0					12																	6942764		1933	4124	6057			10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6942764G>C	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6942764G>C						LEPREL2_uc001qqz.1_Missense_Mutation_p.W214C|LEPREL2_uc001qrb.1_Missense_Mutation_p.W214C	p.W407C	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			9	1255	+			407					Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Missense_Mutation	SNP	ENST00000538102.1	37	c.1221G>C		.	.	.	.	.	.	.	.	.	.	G	19.27	3.794608	0.70452	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.51325	0.71;1.24	4.37	4.37	0.52481	.	0.060875	0.64402	D	0.000001	T	0.60907	0.2305	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.67473	-0.5662	9	0.87932	D	0	-28.7185	14.4464	0.67352	0.0:0.0:1.0:0.0	.	407	Q8IVL6	P3H3_HUMAN	C	406;222	ENSP00000379951:W406C;ENSP00000290510:W222C	ENSP00000290510:W222C	W	+	3	0	LEPREL2	6813025	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.993000	0.88291	2.251000	0.74343	0.561000	0.74099	TGG		0.557	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		4	49	0	0	0	0.009096	0	4	49				
TAS2R14	50840	broad.mit.edu	37	12	11091224	11091224	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:11091224G>A	ENST00000537503.1	-	1	638	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	195					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACATTGCCAGGGACAAAGTA	0.423																																							uc010shi.1		NA																	0					0						c.(583-585)CTG>TTG		taste receptor, type 2, member 14							91.0	95.0	94.0					12																	11091224		2203	4300	6503	SO:0001819	synonymous_variant	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091224G>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.583C>T	12.37:g.11091224G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L195L	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN			1	583	-			195			Helical; Name=5; (Potential).		Q645X3	Silent	SNP	ENST00000537503.1	37	c.583C>T	CCDS8637.1																																																																																				0.423	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		24	43	0	0	0	0.00333	0	24	43				
SLCO1C1	53919	broad.mit.edu	37	12	20893164	20893164	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:20893164G>T	ENST00000266509.2	+	12	1963	c.1595G>T	c.(1594-1596)gGa>gTa	p.G532V	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G414V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G483V|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G532V|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G532V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	532					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCTAAATCCGGAAATTCCTCA	0.353																																							uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1594-1596)GGA>GTA		solute carrier organic anion transporter family,							156.0	149.0	151.0					12																	20893164		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893164G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1595G>T	12.37:g.20893164G>T	ENSP00000266509:p.Gly532Val					SLCO1C1_uc010sii.1_Missense_Mutation_p.G532V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G483V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G366V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G532V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G414V	p.G532V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	1950	+	Esophageal squamous(101;0.149)		532			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1595G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851641	0.32699	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.89	3.98	0.46160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.849791	0.09831	N	0.750246	T	0.34919	0.0914	N	0.21324	0.655	0.80722	D	1	P;P;B;B	0.45768	0.866;0.571;0.443;0.389	P;B;B;B	0.44811	0.461;0.285;0.196;0.285	T	0.03268	-1.1054	10	0.44086	T	0.13	.	10.5086	0.44849	0.0748:0.1345:0.7907:0.0	.	414;483;532;532	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	V	532;483;532;532;414	ENSP00000444149:G532V;ENSP00000438665:G483V;ENSP00000266509:G532V;ENSP00000370964:G532V;ENSP00000444527:G414V	ENSP00000266509:G532V	G	+	2	0	SLCO1C1	20784431	1.000000	0.71417	0.997000	0.53966	0.569000	0.35902	5.574000	0.67424	1.250000	0.43966	0.563000	0.77884	GGA		0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		32	86	1	0	1.99505e-19	0.002445	3.22113e-19	32	86				
SLCO1C1	53919	broad.mit.edu	37	12	20893173	20893173	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:20893173C>T	ENST00000266509.2	+	12	1972	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S417L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S486L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S535L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S535L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	535					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGAAATTCCTCAGGCATAGTG	0.373																																							uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1603-1605)TCA>TTA		solute carrier organic anion transporter family,							164.0	157.0	159.0					12																	20893173		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893173C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1604C>T	12.37:g.20893173C>T	ENSP00000266509:p.Ser535Leu					SLCO1C1_uc010sii.1_Missense_Mutation_p.S535L|SLCO1C1_uc010sij.1_Missense_Mutation_p.S486L|SLCO1C1_uc009zip.2_Missense_Mutation_p.S369L|SLCO1C1_uc001rei.2_Missense_Mutation_p.S535L|SLCO1C1_uc010sik.1_Missense_Mutation_p.S417L	p.S535L	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	1959	+	Esophageal squamous(101;0.149)		535			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1604C>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844768	0.91197	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	4.89	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.137128	0.50627	D	0.000113	T	0.71921	0.3397	M	0.91249	3.19	0.53005	D	0.999964	D;D;P;P	0.59767	0.966;0.986;0.945;0.871	P;D;D;D	0.71414	0.856;0.956;0.973;0.928	T	0.78658	-0.2118	10	0.59425	D	0.04	.	18.252	0.90006	0.0:1.0:0.0:0.0	.	417;486;535;535	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	L	535;486;535;535;417	ENSP00000444149:S535L;ENSP00000438665:S486L;ENSP00000266509:S535L;ENSP00000370964:S535L;ENSP00000444527:S417L	ENSP00000266509:S535L	S	+	2	0	SLCO1C1	20784440	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.992000	0.76238	2.547000	0.85894	0.563000	0.77884	TCA		0.373	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		34	89	0	0	0	0.003271	0	34	89				
SPX	80763	broad.mit.edu	37	12	21680124	21680124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:21680124C>T	ENST00000256969.2	+	3	309	c.143C>T	c.(142-144)gCa>gTa	p.A48V		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		48					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGAAAGGGGCACGTAAGTTC	0.458																																							uc001rfa.1		NA																	0					0						c.(142-144)GCA>GTA		spexin precursor							101.0	98.0	99.0					12																	21680124		2203	4300	6503	SO:0001583	missense	80763					extracellular region|nucleus|transport vesicle		g.chr12:21680124C>T																												ENST00000256969.2:c.143C>T	12.37:g.21680124C>T	ENSP00000256969:p.Ala48Val					C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	p.A48V	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			3	294	+			48					B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	c.143C>T	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511691	0.85389	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.58	4.58	0.56647	.	0.064058	0.64402	D	0.000006	T	0.68943	0.3056	L	0.59436	1.845	0.40019	D	0.975384	D	0.65815	0.995	P	0.59546	0.859	T	0.72918	-0.4146	9	0.62326	D	0.03	-0.8569	15.6966	0.77506	0.0:1.0:0.0:0.0	.	48	Q9BT56	SPXN_HUMAN	V	48	.	ENSP00000256969:A48V	A	+	2	0	C12orf39	21571391	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	5.681000	0.68175	2.530000	0.85305	0.591000	0.81541	GCA		0.458	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			37	60	0	0	0	0.004878	0	37	60				
OVOS2	144203	broad.mit.edu	37	12	31297895	31297895	+	IGR	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:31297895C>G								RP11-551L14.1 (27490 upstream) : FAM60A (135622 downstream)																							CCATCCACAGCCCCGAGGGCA	0.468																																							uc010sjy.1		NA																	0					NA						c.(1735-1737)GCT>CCT		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							108.0	108.0	108.0					12																	31297895		1901	4112	6013	SO:0001628	intergenic_variant	0							g.chr12:31297895C>G																													12.37:g.31297895C>G							p.A579P							13	1735	-									Missense_Mutation	SNP		37	c.1735G>C																																																																																				0	0.468									34	57	0	0	0	0.002836	0	34	57				
PCED1B	91523	broad.mit.edu	37	12	47629773	47629773	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:47629773C>A	ENST00000546455.1	+	4	1658	c.927C>A	c.(925-927)cgC>cgA	p.R309R	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.R309R			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	309	Pro-rich.						hydrolase activity (GO:0016787)										caccccagcgcttgccgctgc	0.647																																							uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(925-927)CGC>CGA		hypothetical protein LOC91523							52.0	56.0	55.0					12																	47629773		2203	4300	6503	SO:0001819	synonymous_variant	91523						hydrolase activity	g.chr12:47629773C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.927C>A	12.37:g.47629773C>A						FAM113B_uc010slj.1_Silent_p.R189R|FAM113B_uc001rpq.2_Silent_p.R309R	p.R309R	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1658	+	Renal(347;0.138)|Lung SC(27;0.192)		309			Pro-rich.		Q96B20	Silent	SNP	ENST00000546455.1	37	c.927C>A	CCDS8752.1																																																																																				0.647	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		20	40	1	0	4.35082e-09	0.010504	5.81652e-09	20	40				
PRKAG1	5571	broad.mit.edu	37	12	49398789	49398789	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:49398789T>A	ENST00000548065.1	-	7	824	c.368A>T	c.(367-369)cAg>cTg	p.Q123L	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q72L|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q91L|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q132L|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q39L			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	123					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	AAAGGAGTCCTGGAGATACAC	0.463																																							uc001rsy.2		NA																	0				kidney(1)	1						c.(367-369)CAG>CTG		AMP-activated protein kinase, noncatalytic							125.0	124.0	124.0					12																	49398789		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49398789T>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.368A>T	12.37:g.49398789T>A	ENSP00000447433:p.Gln123Leu					uc001rsw.2_Intron|PRKAG1_uc010smd.1_Missense_Mutation_p.Q91L|PRKAG1_uc001rsx.2_Missense_Mutation_p.Q39L|PRKAG1_uc001rsz.2_Missense_Mutation_p.Q132L|PRKAG1_uc009zlb.2_Intron|PRKAG1_uc010sme.1_Missense_Mutation_p.Q123L	p.Q123L	NM_002733	NP_002724	P54619	AAKG1_HUMAN			7	437	-			123					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.368A>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544039	0.45280	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463	D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.37	5.37	0.77165	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.84082	2.675	0.58432	D	0.999999	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.005	D	0.88189	0.2876	10	0.44086	T	0.13	-13.6465	14.4941	0.67674	0.0:0.0:0.0:1.0	.	123;132;123	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	L	39;72;132;123;91;98;72;39;91;91	ENSP00000378599:Q39L;ENSP00000448873:Q72L;ENSP00000323867:Q132L;ENSP00000447433:Q123L;ENSP00000448972:Q91L;ENSP00000449121:Q98L;ENSP00000447671:Q72L;ENSP00000450112:Q39L;ENSP00000449637:Q91L;ENSP00000448251:Q91L	ENSP00000323867:Q132L	Q	-	2	0	PRKAG1	47685056	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.053000	0.71089	2.254000	0.74563	0.482000	0.46254	CAG		0.463	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		44	73	0	0	0	0.002522	0	44	73				
TBC1D15	64786	broad.mit.edu	37	12	72290500	72290500	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:72290500T>C	ENST00000550746.1	+	10	1143	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	TBC1D15_ENST00000485960.2_Missense_Mutation_p.L343P|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L114P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L351P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	360	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATTTCTTCTGGGTTATTTT	0.338																																							uc001swu.2		NA																	0					0						c.(1144-1146)CTG>CCG		TBC1 domain family, member 15 isoform 1							89.0	93.0	92.0					12																	72290500		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72290500T>C	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1079T>C	12.37:g.72290500T>C	ENSP00000448182:p.Leu360Pro					TBC1D15_uc009zrv.2_Missense_Mutation_p.L244P|TBC1D15_uc010stt.1_Missense_Mutation_p.L351P|TBC1D15_uc001swv.2_Missense_Mutation_p.L365P|TBC1D15_uc001sww.2_Missense_Mutation_p.L114P	p.L382P	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			10	1154	+			360			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1145T>C	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448144	0.84101	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T;T	0.19250	2.16;3.1;2.16;2.16;2.16	5.87	5.87	0.94306	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.63414	0.2509	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77819	-0.2446	10	0.87932	D	0	-6.3752	16.2631	0.82557	0.0:0.0:0.0:1.0	.	351;343;360	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	P	360;244;351;343;114	ENSP00000448182:L360P;ENSP00000418091:L244P;ENSP00000318262:L351P;ENSP00000420678:L343P;ENSP00000376986:L114P	ENSP00000318262:L351P	L	+	2	0	TBC1D15	70576767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.120000	0.64685	2.239000	0.73571	0.528000	0.53228	CTG		0.338	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		20	45	0	0	0	0.002299	0	20	45				
NAV3	89795	broad.mit.edu	37	12	78516179	78516179	+	Silent	SNP	G	G	T	rs367571223		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:78516179G>T	ENST00000397909.2	+	16	4382	c.4209G>T	c.(4207-4209)acG>acT	p.T1403T	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.T1403T|NAV3_ENST00000536525.2_Silent_p.T1403T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATGAGAACGGGTAGTGTGA	0.547										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4207-4209)ACG>ACT		neuron navigator 3							103.0	95.0	98.0					12																	78516179		2017	4185	6202	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516179G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4209G>T	12.37:g.78516179G>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.T1403T|NAV3_uc010sub.1_Silent_p.T903T|NAV3_uc009zsf.2_Intron	p.T1403T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4382	+			1403			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4209G>T																																																																																					0.547	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		26	57	1	0	3.6726e-16	0.003954	5.65131e-16	26	57				
MYF5	4617	broad.mit.edu	37	12	81112714	81112714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:81112714G>T	ENST00000228644.3	+	3	804	c.652G>T	c.(652-654)Gag>Tag	p.E218*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCTCCTCAGAGCAACCTGG	0.488																																							uc001szg.2		NA																	0				ovary(1)	1						c.(652-654)GAG>TAG		myogenic factor 5							106.0	103.0	104.0					12																	81112714		2203	4300	6503	SO:0001587	stop_gained	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112714G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.652G>T	12.37:g.81112714G>T	ENSP00000228644:p.Glu218*						p.E218*	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	787	+			218					Q6ISR9	Nonsense_Mutation	SNP	ENST00000228644.3	37	c.652G>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	37	6.594330	0.97692	.	.	ENSG00000111049	ENST00000228644	.	.	.	6.06	6.06	0.98353	.	0.147924	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.9257	19.3923	0.94587	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000228644:E218X	E	+	1	0	MYF5	79636845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.184000	0.89702	2.882000	0.98803	0.655000	0.94253	GAG		0.488	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		29	66	1	0	9.80776e-20	0.00632	1.59033e-19	29	66				
MYF5	4617	broad.mit.edu	37	12	81112716	81112716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:81112716G>T	ENST00000228644.3	+	3	806	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTCCTCAGAGCAACCTGGGT	0.493																																							uc001szg.2		NA																	0				ovary(1)	1						c.(652-654)GAG>GAT		myogenic factor 5							106.0	102.0	104.0					12																	81112716		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112716G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.654G>T	12.37:g.81112716G>T	ENSP00000228644:p.Glu218Asp						p.E218D	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	789	+			218					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.654G>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119506	0.37436	.	.	ENSG00000111049	ENST00000228644	D	0.98567	-5.0	6.06	-0.167	0.13347	.	0.147924	0.64402	D	0.000013	D	0.92525	0.7626	N	0.25647	0.755	0.42188	D	0.991719	B	0.09022	0.002	B	0.06405	0.002	T	0.82006	-0.0671	10	0.19147	T	0.46	-1.9257	1.8189	0.03106	0.2937:0.1104:0.4257:0.1703	.	218	P13349	MYF5_HUMAN	D	218	ENSP00000228644:E218D	ENSP00000228644:E218D	E	+	3	2	MYF5	79636847	0.967000	0.33354	0.991000	0.47740	0.979000	0.70002	-0.047000	0.11963	0.168000	0.19655	0.655000	0.94253	GAG		0.493	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		29	65	1	0	9.80776e-20	0.00632	1.59033e-19	29	65				
SLC6A15	55117	broad.mit.edu	37	12	85277694	85277694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:85277694C>G	ENST00000266682.5	-	5	1241	c.700G>C	c.(700-702)Gct>Cct	p.A234P	SLC6A15_ENST00000450363.3_Missense_Mutation_p.A234P|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A127P|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	234					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACCCAGGCAGCCAACAAGCAG	0.443																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(700-702)GCT>CCT		solute carrier family 6, member 15 isoform 1							83.0	73.0	77.0					12																	85277694		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85277694C>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.700G>C	12.37:g.85277694C>G	ENSP00000266682:p.Ala234Pro					SLC6A15_uc010sul.1_Missense_Mutation_p.A127P|SLC6A15_uc001szy.2_Missense_Mutation_p.A234P	p.A234P	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			5	1193	-			234			Helical; Name=4; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.700G>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400858	0.83120	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000450363	T;T;T	0.75477	-0.94;-0.94;-0.94	5.84	4.87	0.63330	.	0.433151	0.27402	N	0.019524	D	0.86543	0.5958	M	0.90650	3.135	0.41263	D	0.986794	P;P	0.49253	0.84;0.921	P;P	0.55667	0.673;0.781	D	0.89059	0.3461	10	0.62326	D	0.03	.	17.6705	0.88216	0.1312:0.8688:0.0:0.0	.	234;234	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	P	234;127;234	ENSP00000266682:A234P;ENSP00000450145:A127P;ENSP00000390706:A234P	ENSP00000266682:A234P	A	-	1	0	SLC6A15	83801825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.429000	0.44758	2.764000	0.94973	0.655000	0.94253	GCT		0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		8	22	0	0	0	0.00308	0	8	22				
VEZT	55591	broad.mit.edu	37	12	95650954	95650954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:95650954C>T	ENST00000436874.1	+	3	302	c.197C>T	c.(196-198)aCc>aTc	p.T66I	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T18I	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	66					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTGGCTGAAACCATCAAAAGT	0.348																																							uc001tdz.2		NA																	0				ovary(1)	1						c.(196-198)ACC>ATC		vezatin, adherens junctions transmembrane							101.0	95.0	97.0					12																	95650954		1833	4077	5910	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95650954C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.197C>T	12.37:g.95650954C>T	ENSP00000410083:p.Thr66Ile					VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.T18I|VEZT_uc001tdt.2_Missense_Mutation_p.T18I|VEZT_uc009zsz.1_Missense_Mutation_p.T66I|VEZT_uc001tdv.2_Missense_Mutation_p.T35I|VEZT_uc001tdw.1_Missense_Mutation_p.T18I|VEZT_uc009zta.1_Missense_Mutation_p.T18I	p.T66I	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			3	302	+			66					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.197C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059607	0.36373	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000551311;ENST00000397792;ENST00000397796	T;T;T;T	0.44482	2.48;2.52;0.92;2.52	5.58	3.66	0.41972	.	0.352416	0.33591	N	0.004748	T	0.25005	0.0607	L	0.27053	0.805	0.27703	N	0.945737	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.10450	0.002;0.002;0.005;0.002	T	0.03717	-1.1010	10	0.37606	T	0.19	-5.5602	4.5835	0.12271	0.0:0.396:0.3999:0.2041	.	66;66;18;18	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	I	66;18;85;57;18;18;66	ENSP00000410083:T66I;ENSP00000261219:T18I;ENSP00000449701:T85I;ENSP00000380894:T18I	ENSP00000261219:T18I	T	+	2	0	VEZT	94175085	0.963000	0.33076	0.998000	0.56505	0.814000	0.46013	0.661000	0.25023	2.631000	0.89168	0.467000	0.42956	ACC		0.348	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		5	11	0	0	0	0.001984	0	5	11				
ANKS1B	56899	broad.mit.edu	37	12	99640545	99640545	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:99640545G>A	ENST00000547776.2	-	13	1853	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	ANKS1B_ENST00000329257.7_Silent_p.S618S|ANKS1B_ENST00000547010.1_Silent_p.S198S|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	618						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GATTTTCAGGGGACTCACAGG	0.468																																							uc001tge.1		NA																	0					0						c.(1852-1854)TCC>TCT		cajalin 2 isoform a							142.0	133.0	136.0					12																	99640545		1870	4103	5973	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640545G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1854C>T	12.37:g.99640545G>A						ANKS1B_uc001tgf.1_Silent_p.S198S|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Silent_p.S584S	p.S618S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2271	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	618					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.1854C>T	CCDS55872.1																																																																																				0.468	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		17	144	0	0	0	0.008871	0	17	144				
FAM71C	196472	broad.mit.edu	37	12	100042361	100042361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:100042361C>G	ENST00000324341.1	+	1	831	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	137										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CGTAAAAAAACAGCTCCACCT	0.468																																							uc001tgn.2		NA																	0					0						c.(409-411)CAG>GAG		hypothetical protein LOC196472							74.0	74.0	74.0					12																	100042361		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042361C>G		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.409C>G	12.37:g.100042361C>G	ENSP00000315247:p.Gln137Glu					ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.Q137E	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	831	+			137					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.409C>G	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089046	0.36855	.	.	ENSG00000180219	ENST00000324341	T	0.19105	2.17	3.83	3.83	0.44106	.	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.87328	2.875	0.22552	N	0.99899	D	0.89917	1.0	D	0.91635	0.999	T	0.39231	-0.9624	9	.	.	.	-5.165	11.5193	0.50541	0.0:1.0:0.0:0.0	.	137	Q8NEG0	FA71C_HUMAN	E	137	ENSP00000315247:Q137E	.	Q	+	1	0	FAM71C	98566492	0.034000	0.19679	0.854000	0.33618	0.122000	0.20287	0.891000	0.28309	2.421000	0.82119	0.555000	0.69702	CAG		0.468	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		25	68	0	0	0	0.004656	0	25	68				
STAB2	55576	broad.mit.edu	37	12	104071263	104071263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:104071263C>A	ENST00000388887.2	+	25	2883	c.2679C>A	c.(2677-2679)caC>caA	p.H893Q		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CGGGCACCCACACCTGCGTGT	0.542																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2677-2679)CAC>CAA		stabilin 2 precursor							90.0	93.0	92.0					12																	104071263		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104071263C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2679C>A	12.37:g.104071263C>A	ENSP00000373539:p.His893Gln						p.H893Q	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			25	2865	+			893			Extracellular (Potential).|EGF-like 8.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2679C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892344	0.52121	.	.	ENSG00000136011	ENST00000388887	T	0.41758	0.99	5.67	5.67	0.87782	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052258	0.85682	D	0.000000	T	0.57621	0.2066	M	0.84219	2.685	0.38401	D	0.945674	D	0.57899	0.981	P	0.52267	0.694	T	0.67090	-0.5758	10	0.72032	D	0.01	.	12.6287	0.56644	0.0:0.9206:0.0:0.0794	.	893	Q8WWQ8	STAB2_HUMAN	Q	893	ENSP00000373539:H893Q	ENSP00000373539:H893Q	H	+	3	2	STAB2	102595393	0.607000	0.26958	0.956000	0.39512	0.060000	0.15804	1.252000	0.32874	2.692000	0.91855	0.655000	0.94253	CAC		0.542	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			45	70	1	0	9.84934e-19	0.002522	1.57006e-18	45	70				
NOS1	4842	broad.mit.edu	37	12	117768676	117768676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:117768676C>T	ENST00000338101.4	-	1	203	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	NOS1_ENST00000317775.6_Missense_Mutation_p.V67I|NOS1_ENST00000344089.3_Missense_Mutation_p.V67I|NOS1_ENST00000549189.1_5'Flank			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)			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)		CGGCCGTTGACCGCAAGAATG	0.632																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(199-201)GTC>ATC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						38.0	42.0	40.0					12																	117768676		1989	4143	6132	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768676C>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.199G>A	12.37:g.117768676C>T	ENSP00000337459:p.Val67Ile						p.V67I	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	885	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		67			Interaction with NOSIP (By similarity).|PDZ.			Missense_Mutation	SNP	ENST00000338101.4	37	c.199G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303213	0.81136	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.27256	1.68;1.68;1.68	4.91	4.91	0.64330	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	L	0.37897	1.145	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.19063	-1.0317	10	0.44086	T	0.13	-47.5526	18.2976	0.90151	0.0:1.0:0.0:0.0	.	67	P29475	NOS1_HUMAN	I	67	ENSP00000320758:V67I;ENSP00000339862:V67I;ENSP00000337459:V67I	ENSP00000320758:V67I	V	-	1	0	NOS1	116253059	1.000000	0.71417	0.942000	0.38095	0.429000	0.31625	7.296000	0.78790	2.550000	0.86006	0.555000	0.69702	GTC		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			25	36	0	0	0	0.00278	0	25	36				
STARD13	90627	broad.mit.edu	37	13	33692207	33692207	+	Missense_Mutation	SNP	T	T	C	rs553359255		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:33692207T>C	ENST00000336934.5	-	8	2392	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C|STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	759	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTACACTGATAGATATGGAG	0.403													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19436	0.0		0.0	False		,,,				2504	0.0						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2275-2277)TAT>TGT		StAR-related lipid transfer (START) domain							115.0	119.0	118.0					13																	33692207		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33692207T>C	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2276A>G	13.37:g.33692207T>C	ENSP00000338785:p.Tyr759Cys					STARD13_uc001uuu.2_Missense_Mutation_p.Y751C|STARD13_uc001uuv.2_Missense_Mutation_p.Y641C|STARD13_uc001uux.2_Missense_Mutation_p.Y724C|STARD13_uc010tec.1_RNA	p.Y759C	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	8	2402	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	759			Rho-GAP.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.2276A>G	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233188	0.79688	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.11821	2.74;2.74;2.74	5.2	5.2	0.72013	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.961	T	0.03121	-1.1070	10	0.54805	T	0.06	.	15.3518	0.74396	0.0:0.0:0.0:1.0	.	724;759;751	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	C	641;751;759	ENSP00000382300:Y641C;ENSP00000255486:Y751C;ENSP00000338785:Y759C	ENSP00000255486:Y751C	Y	-	2	0	STARD13	32590207	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.840000	0.86819	2.098000	0.63641	0.472000	0.43445	TAT		0.403	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		27	47	0	0	0	0.007291	0	27	47				
DOCK9	23348	broad.mit.edu	37	13	99534187	99534187	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:99534187G>A	ENST00000376460.1	-	24	2714	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DOCK9_ENST00000339416.2_Silent_p.L879L|DOCK9_ENST00000442173.1_Silent_p.L878L|DOCK9_ENST00000448493.2_Silent_p.L890L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	879					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTCTGGTGAGGACTCGGA	0.532																																							uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(2635-2637)CTC>CTT		dedicator of cytokinesis 9 isoform a							104.0	105.0	105.0					13																	99534187		2143	4254	6397	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99534187G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2634C>T	13.37:g.99534187G>A						DOCK9_uc001vnw.2_Silent_p.L878L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.L879L|DOCK9_uc010tis.1_Silent_p.L878L|DOCK9_uc010tit.1_Silent_p.L879L|DOCK9_uc010afu.1_Silent_p.L725L	p.L879L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			24	2692	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		879			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2637C>T	CCDS45062.1																																																																																				0.532	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	7	0	0	0	0.009096	0	4	7				
DOCK9	23348	broad.mit.edu	37	13	99537313	99537313	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:99537313C>T	ENST00000376460.1	-	21	2374	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	DOCK9_ENST00000339416.2_Missense_Mutation_p.G766E|DOCK9_ENST00000442173.1_Missense_Mutation_p.G765E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G777E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	766	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCACCCTTCCGTCTTTCAG	0.507																																							uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(2296-2298)GGA>GAA		dedicator of cytokinesis 9 isoform a							51.0	51.0	51.0					13																	99537313		1940	4142	6082	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99537313C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2294G>A	13.37:g.99537313C>T	ENSP00000365643:p.Gly765Glu					DOCK9_uc001vnw.2_Missense_Mutation_p.G765E|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.G766E|DOCK9_uc010tis.1_Missense_Mutation_p.G765E|DOCK9_uc010tit.1_Missense_Mutation_p.G766E|DOCK9_uc010afu.1_Missense_Mutation_p.G612E	p.G766E	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			21	2352	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		766			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.2297G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387282	0.95988	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.81239	2.535	0.80722	D	1	D;D;D;P;D	0.89917	0.998;1.0;0.998;0.858;1.0	D;D;D;P;D	0.97110	0.98;0.999;0.968;0.729;1.0	T	0.53690	-0.8403	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	766;765;765;765;766	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	E	765;766;766;766;765;766;777;765	ENSP00000365643:G765E;ENSP00000341086:G766E;ENSP00000401958:G777E;ENSP00000406883:G765E	ENSP00000341086:G766E	G	-	2	0	DOCK9	98335314	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.281000	0.78621	2.832000	0.97577	0.655000	0.94253	GGA		0.507	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		11	15	0	0	0	0.000978	0	11	15				
TM9SF2	9375	broad.mit.edu	37	13	100193814	100193814	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:100193814A>G	ENST00000376387.4	+	9	1100	c.910A>G	c.(910-912)Att>Gtt	p.I304V		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	304					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTTCTACAGCATTATGAATTC	0.333																																							uc001voj.1		NA																	0				ovary(1)	1						c.(910-912)ATT>GTT		transmembrane 9 superfamily member 2 precursor							226.0	201.0	209.0					13																	100193814		2203	4300	6503	SO:0001630	splice_region_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100193814A>G	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.909-1A>G	13.37:g.100193814A>G						TM9SF2_uc010afz.1_Missense_Mutation_p.I139V	p.I304V	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			9	1043	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		304			Helical; (Potential).		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.910A>G	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743401	0.89663	.	.	ENSG00000125304	ENST00000376387	T	0.54279	0.58	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.85859	2.78	0.80722	D	1	P;P	0.45396	0.857;0.745	P;P	0.55749	0.681;0.783	T	0.76408	-0.2970	10	0.62326	D	0.03	-25.3061	15.6326	0.76923	1.0:0.0:0.0:0.0	.	270;304	E9PHW5;Q99805	.;TM9S2_HUMAN	V	304	ENSP00000365567:I304V	ENSP00000365567:I304V	I	+	1	0	TM9SF2	98991815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.310000	0.96267	2.084000	0.62774	0.528000	0.53228	ATT		0.333	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		Missense_Mutation	33	64	0	0	0	0.009535	0	33	64				
NALCN	259232	broad.mit.edu	37	13	101755671	101755671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:101755671C>A	ENST00000251127.6	-	26	2990	c.2909G>T	c.(2908-2910)tGt>tTt	p.C970F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	970					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCATCCAACAAAGAAATAT	0.453																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2908-2910)TGT>TTT		voltage gated channel like 1							69.0	68.0	68.0					13																	101755671		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755671C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2909G>T	13.37:g.101755671C>A	ENSP00000251127:p.Cys970Phe						p.C970F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			26	3098	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		970			Helical; Name=S3 of repeat III; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2909G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217541	0.58560	.	.	ENSG00000102452	ENST00000251127	D	0.98221	-4.8	5.14	5.14	0.70334	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	N	0.17248	0.465	0.80722	D	1	B	0.31680	0.335	B	0.31290	0.127	D	0.94249	0.7492	10	0.52906	T	0.07	.	18.9917	0.92794	0.0:1.0:0.0:0.0	.	970	Q8IZF0	NALCN_HUMAN	F	970	ENSP00000251127:C970F	ENSP00000251127:C970F	C	-	2	0	NALCN	100553672	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	2.546000	0.85860	0.650000	0.86243	TGT		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		18	47	1	0	7.07596e-05	0.006122	8.14546e-05	18	47				
DAOA	267012	broad.mit.edu	37	13	106118662	106118662	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:106118662G>A	ENST00000375936.3	+	1	71	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	9					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					gatgggtgctgattctctcca	0.517																																							uc001vqb.2		NA																	0					0						c.(25-27)GAT>AAT		D-amino acid oxidase activator isoform 1							139.0	130.0	133.0					13																	106118662		1915	4151	6066	SO:0001583	missense	267012					Golgi apparatus		g.chr13:106118662G>A	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.25G>A	13.37:g.106118662G>A	ENSP00000365103:p.Asp9Asn					DAOA_uc010tjf.1_5'UTR|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_5'UTR|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_5'Flank	p.D9N	NM_172370	NP_758958	P59103	DAOA_HUMAN			1	299	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		9					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	c.25G>A	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128702	0.21041	.	.	ENSG00000182346	ENST00000375936	T	0.39406	1.08	2.12	0.298	0.15766	.	.	.	.	.	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	B	0.27192	0.171	B	0.32465	0.146	T	0.30268	-0.9984	9	0.87932	D	0	.	4.3746	0.11263	0.3581:0.0:0.6419:0.0	.	9	P59103	DAOA_HUMAN	N	9	ENSP00000365103:D9N	ENSP00000365103:D9N	D	+	1	0	DAOA	104916663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	0.035000	0.15519	0.655000	0.94253	GAT		0.517	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		16	52	0	0	0	0.007413	0	16	52				
DAOA	267012	broad.mit.edu	37	13	106142289	106142289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:106142289G>T	ENST00000375936.3	+	4	367	c.321G>T	c.(319-321)atG>atT	p.M107I	DAOA_ENST00000329625.5_Missense_Mutation_p.M36I|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	107					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					aagtcttcatggcaagaaact	0.493																																							uc001vqb.2		NA																	0					0						c.(319-321)ATG>ATT		D-amino acid oxidase activator isoform 1							67.0	71.0	70.0					13																	106142289		2122	4254	6376	SO:0001583	missense	267012					Golgi apparatus		g.chr13:106142289G>T	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.321G>T	13.37:g.106142289G>T	ENSP00000365103:p.Met107Ile					DAOA_uc010tjf.1_Missense_Mutation_p.M36I|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.M79I|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	p.M107I	NM_172370	NP_758958	P59103	DAOA_HUMAN			4	595	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		107					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	c.321G>T	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	G	3.705	-0.060775	0.07317	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.28895	1.59	2.44	-0.685	0.11328	.	.	.	.	.	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.22386	0.039;0.039	T	0.23904	-1.0175	9	0.87932	D;D	0;0	.	5.412	0.16354	0.52:0.0:0.48:0.0	.	79;107	A2T115;P59103	.;DAOA_HUMAN	I	107;36	ENSP00000365103:M107I	ENSP00000329951:M36I;ENSP00000329951:M36I	M	+	3	0	DAOA	104940290	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.137000	0.10389	-0.216000	0.10048	-0.137000	0.14449	ATG		0.493	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		11	34	1	0	1.58986e-06	0.008291	1.92726e-06	11	34				
ARHGEF40	55701	broad.mit.edu	37	14	21542500	21542500	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:21542500A>T	ENST00000298694.4	+	3	738	c.611A>T	c.(610-612)gAa>gTa	p.E204V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E204V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	204						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCCCCCAGAACTGCCCTCT	0.617																																							uc001vzp.2		NA																	0					0						c.(610-612)GAA>GTA		hypothetical protein LOC55701							54.0	51.0	52.0					14																	21542500		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542500A>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.611A>T	14.37:g.21542500A>T	ENSP00000298694:p.Glu204Val					FLJ10357_uc001vzn.1_Missense_Mutation_p.E204V|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	p.E204V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	640	+	all_cancers(95;0.00185)		204					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.611A>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709720	0.48517	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02631	4.28;4.22	4.5	4.5	0.54988	.	0.000000	0.47852	D	0.000220	T	0.03915	0.0110	N	0.19112	0.55	0.30766	N	0.743534	B;P	0.36837	0.18;0.571	B;P	0.45232	0.102;0.474	T	0.09058	-1.0692	10	0.66056	D	0.02	.	11.822	0.52245	1.0:0.0:0.0:0.0	.	204;204	Q8TER5;G3V3N2	ARH40_HUMAN;.	V	204	ENSP00000298694:E204V;ENSP00000298693:E204V	ENSP00000298693:E204V	E	+	2	0	ARHGEF40	20612340	0.546000	0.26457	0.998000	0.56505	0.987000	0.75469	1.742000	0.38248	1.896000	0.54893	0.459000	0.35465	GAA		0.617	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			11	36	0	0	0	0.001368	0	11	36				
RPGRIP1	57096	broad.mit.edu	37	14	21769217	21769217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:21769217G>T	ENST00000400017.2	+	3	311	c.311G>T	c.(310-312)gGg>gTg	p.G104V	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.G104V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G104V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G104V	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	104					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGGCGCGGGCAGAAGGCG	0.726																																							uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(310-312)GGG>GTG		retinitis pigmentosa GTPase regulator							18.0	22.0	21.0					14																	21769217		1937	4096	6033	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21769217G>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.311G>T	14.37:g.21769217G>T	ENSP00000382895:p.Gly104Val						p.G104V	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	3	311	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	104					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.311G>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.762009	0.15914	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.23	-1.25	0.09405	.	1.359680	0.04963	N	0.462413	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.32370	T	0.25	6.007	2.5329	0.04707	0.4117:0.0:0.3658:0.2225	.	104	Q96KN7	RPGR1_HUMAN	V	104	ENSP00000450445:G104V;ENSP00000451219:G104V;ENSP00000382895:G104V;ENSP00000206660:G104V	ENSP00000206660:G104V	G	+	2	0	RPGRIP1	20839057	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.598000	0.05706	-0.048000	0.13401	0.449000	0.29647	GGG		0.726	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		6	37	1	0	5.9392e-07	0.001168	7.40191e-07	6	37				
OR4E2	26686	broad.mit.edu	37	14	22133475	22133475	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:22133475A>T	ENST00000408935.1	+	1	179	c.179A>T	c.(178-180)tAt>tTt	p.Y60F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACCCCCATGTATTTCTTCCTG	0.418																																							uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(178-180)TAT>TTT		olfactory receptor, family 4, subfamily E,							295.0	289.0	291.0					14																	22133475		2013	4178	6191	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133475A>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.179A>T	14.37:g.22133475A>T	ENSP00000386195:p.Tyr60Phe						p.Y60F	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	179	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	60			Helical; Name=2; (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.179A>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809105	0.70797	.	.	ENSG00000221977	ENST00000408935	T	0.10763	2.84	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003655	T	0.32194	0.0821	M	0.91972	3.26	0.43364	D	0.995442	P	0.46512	0.879	P	0.51324	0.666	T	0.32561	-0.9902	10	0.72032	D	0.01	.	13.2076	0.59807	1.0:0.0:0.0:0.0	.	60	Q8NGC2	OR4E2_HUMAN	F	60	ENSP00000386195:Y60F	ENSP00000386195:Y60F	Y	+	2	0	OR4E2	21203315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.981000	0.70524	2.004000	0.58718	0.477000	0.44152	TAT		0.418	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			75	235	0	0	0	0.00361	0	75	235				
PSMB11	122706	broad.mit.edu	37	14	23511514	23511515	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23511514_23511515GG>CT	ENST00000408907.2	+	1	139_140	c.80_81GG>CT	c.(79-81)tGG>tCT	p.W27S		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	27					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)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCTGGCGGCTGGGCTGTGCCCC	0.639																																							uc010ake.1		NA																	0					0						c.(79-81)TGG>TCT		proteasome beta 11 subunit precursor																																				SO:0001583	missense	122706				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	threonine-type endopeptidase activity	g.chr14:23511514_23511515GG>CT		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		Exception_encountered	14.37:g.23511514_23511515delinsCT	ENSP00000386212:p.Trp27Ser						p.W27S	NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	139_140	+	all_cancers(95;3.3e-05)		27						Missense_Mutation	DNP	ENST00000408907.2	37	c.80_81GG>CT	CCDS41923.1																																																																																				0.639	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		6	113	0	0	0	0.004672	0	6	113				
MYH6	4624	broad.mit.edu	37	14	23866757	23866757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23866757G>T	ENST00000356287.3	-	15	1986	c.1957C>A	c.(1957-1959)Cac>Aac	p.H653N	MYH6_ENST00000405093.3_Missense_Mutation_p.H653N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	653	Myosin motor.				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)			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)		CTTACCCGGTGGAGAGCCGAC	0.542																																							uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(1957-1959)CAC>AAC		myosin heavy chain 6							86.0	82.0	84.0					14																	23866757		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.chr14:23866757G>T	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.1957C>A	14.37:g.23866757G>T	ENSP00000348634:p.His653Asn						p.H653N	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	2024	-	all_cancers(95;2.54e-05)		653			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1957C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.338814	0.81911	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.72051	-0.62;-0.62	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.88633	0.6489	H	0.97564	4.03	0.53688	D	0.99997	D	0.76494	0.999	D	0.87578	0.998	D	0.91316	0.5078	9	0.72032	D	0.01	.	11.8145	0.52202	0.0893:0.0:0.9107:0.0	.	653	P13533	MYH6_HUMAN	N	653	ENSP00000386041:H653N;ENSP00000348634:H653N	ENSP00000348634:H653N	H	-	1	0	MYH6	22936597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.415000	0.52700	2.387000	0.81309	0.655000	0.94253	CAC		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			10	69	1	0	3.86212e-05	0.008291	4.48006e-05	10	69				
MYH6	4624	broad.mit.edu	37	14	23876424	23876424	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23876424A>G	ENST00000356287.3	-	2	38	c.9T>C	c.(7-9)gaT>gaC	p.D3D	MYH6_ENST00000405093.3_Silent_p.D3D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	3					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)			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)		CCATCTGGGCATCGGTCATCT	0.617																																							uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(7-9)GAT>GAC		myosin heavy chain 6							84.0	82.0	83.0					14																	23876424		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:23876424A>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.9T>C	14.37:g.23876424A>G						MYH6_uc010akp.1_Silent_p.D3D	p.D3D	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	3	76	-	all_cancers(95;2.54e-05)		3			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.9T>C	CCDS9600.1																																																																																				0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			17	115	0	0	0	0.00499	0	17	115				
LRFN5	145581	broad.mit.edu	37	14	42356834	42356834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:42356834G>T	ENST00000298119.4	+	3	2195	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	LRFN5_ENST00000554171.1_Missense_Mutation_p.V336L|LRFN5_ENST00000554120.1_Missense_Mutation_p.V336L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	336	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATCTCTGGTGTATGATAA	0.453										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1006-1008)GTG>TTG		leucine rich repeat and fibronectin type III							129.0	125.0	126.0					14																	42356834		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356834G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1006G>T	14.37:g.42356834G>T	ENSP00000298119:p.Val336Leu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.V336L	p.V336L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2204	+			336			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1006G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656311	0.47467	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.66815	-0.23;-0.23;-0.23	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000104	T	0.66086	0.2754	L	0.41710	1.295	0.80722	D	1	B;B	0.21225	0.022;0.053	B;B	0.36464	0.03;0.225	T	0.62849	-0.6767	10	0.45353	T	0.12	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	336;336	G3V364;Q96NI6	.;LRFN5_HUMAN	L	336	ENSP00000298119:V336L;ENSP00000451897:V336L;ENSP00000451067:V336L	ENSP00000298119:V336L	V	+	1	0	LRFN5	41426584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GTG		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		26	96	1	0	2.50493e-22	0.004656	4.16017e-22	26	96				
FAM179B	23116	broad.mit.edu	37	14	45475342	45475342	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45475342A>G	ENST00000361577.3	+	5	2990	c.2776A>G	c.(2776-2778)Aaa>Gaa	p.K926E	FAM179B_ENST00000361462.2_Missense_Mutation_p.K926E|FAM179B_ENST00000382233.2_Missense_Mutation_p.K926E|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	926										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTGCCTGATAAAGCTGATTT	0.423																																							uc001wvv.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(2776-2778)AAA>GAA		hypothetical protein LOC23116							119.0	120.0	120.0					14																	45475342		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475342A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2776A>G	14.37:g.45475342A>G	ENSP00000355045:p.Lys926Glu					FAM179B_uc001wvw.2_Missense_Mutation_p.K926E|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.K926E	p.K926E	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			5	2985	+			926					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2776A>G	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.666860|4.666860	0.88251|0.88251	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.44881	.|2.6;2.58;0.91	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Armadillo-type fold (1);	.|0.311768	.|0.30519	.|N	.|0.009456	T|T	0.43077|0.43077	0.1231|0.1231	N|N	0.24115|0.24115	0.695|0.695	0.30561|0.30561	N|N	0.764467|0.764467	.|P;P;P	.|0.50943	.|0.874;0.874;0.94	.|P;P;P	.|0.53649	.|0.465;0.465;0.731	T|T	0.45498|0.45498	-0.9257|-0.9257	5|10	.|0.41790	.|T	.|0.15	-18.2815|-18.2815	15.1121|15.1121	0.72365|0.72365	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|926;926;926	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	M|E	117|926	.|ENSP00000355045:K926E;ENSP00000354917:K926E;ENSP00000371668:K926E	.|ENSP00000354917:K926E	I|K	+|+	3|1	3|0	FAM179B|FAM179B	44545092|44545092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.299000|6.299000	0.72770|0.72770	2.052000|2.052000	0.61016|0.61016	0.456000|0.456000	0.33151|0.33151	ATA|AAA		0.423	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		14	126	0	0	0	0.00245	0	14	126				
FAM179B	23116	broad.mit.edu	37	14	45535891	45535891	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45535891G>A	ENST00000361577.3	+	16	4725	c.4511G>A	c.(4510-4512)cGt>cAt	p.R1504H	FAM179B_ENST00000361462.2_Missense_Mutation_p.R1557H|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1504										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAGACTTTCGTGATCGTATT	0.358																																							uc001wvv.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(4510-4512)CGT>CAT		hypothetical protein LOC23116							107.0	108.0	108.0					14																	45535891		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45535891G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4511G>A	14.37:g.45535891G>A	ENSP00000355045:p.Arg1504His					FAM179B_uc001wvw.2_Missense_Mutation_p.R1557H|FAM179B_uc010anc.2_RNA	p.R1504H	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			16	4720	+			1504					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4511G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990508	0.93106	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.30448	1.53;1.53	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.050443	0.64402	D	0.000001	T	0.55768	0.1941	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.989;0.996	T	0.56854	-0.7910	10	0.72032	D	0.01	-10.8843	17.3607	0.87349	0.0:0.0:1.0:0.0	.	1557;1504	G3XAE9;Q9Y4F4	.;F179B_HUMAN	H	1504;1557	ENSP00000355045:R1504H;ENSP00000354917:R1557H	ENSP00000354917:R1557H	R	+	2	0	FAM179B	44605641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.954000	0.87848	2.624000	0.88883	0.561000	0.74099	CGT		0.358	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		6	82	0	0	0	0.001984	0	6	82				
FANCM	57697	broad.mit.edu	37	14	45645568	45645568	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45645568G>T	ENST00000267430.5	+	14	3696	c.3611G>T	c.(3610-3612)cGt>cTt	p.R1204L	FANCM_ENST00000542564.2_Missense_Mutation_p.R1178L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1204					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAAATCTCGTGATCAGAGA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(3610-3612)CGT>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							81.0	81.0	81.0					14																	45645568		2202	4300	6502	SO:0001583	missense	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645568G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3611G>T	14.37:g.45645568G>T	ENSP00000267430:p.Arg1204Leu					FANCM_uc010anf.2_Missense_Mutation_p.R1178L|FANCM_uc001wwe.3_Missense_Mutation_p.R740L|FANCM_uc010ang.2_Missense_Mutation_p.R418L	p.R1204L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3710	+			1204					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3611G>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.567433	0.00895	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.17528	2.86;2.86;2.27	5.0	-0.596	0.11657	.	1.549730	0.02803	N	0.123453	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25537	-1.0129	10	0.27082	T	0.32	.	3.8428	0.08922	0.5462:0.0:0.17:0.2838	.	1178;1204	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	L	1204;1178;720	ENSP00000267430:R1204L;ENSP00000442493:R1178L;ENSP00000452033:R720L	ENSP00000267430:R1204L	R	+	2	0	FANCM	44715318	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	-0.221000	0.09202	0.071000	0.16664	-1.247000	0.01520	CGT		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	61	1	0	0.00010058	0.001368	0.000114731	13	61				
DACT1	51339	broad.mit.edu	37	14	59112433	59112433	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:59112433T>A	ENST00000335867.4	+	4	1116	c.1092T>A	c.(1090-1092)gcT>gcA	p.A364A	DACT1_ENST00000556859.1_Silent_p.A83A|DACT1_ENST00000395153.3_Silent_p.A327A|DACT1_ENST00000541264.2_Silent_p.A83A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	364					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGTGAACGCTGACCCCACGA	0.517																																							uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(1090-1092)GCT>GCA		dapper 1 isoform 1							59.0	60.0	59.0					14																	59112433		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112433T>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1092T>A	14.37:g.59112433T>A						DACT1_uc010trv.1_Silent_p.A83A|DACT1_uc001xdx.2_Silent_p.A327A|DACT1_uc010trw.1_Silent_p.A83A	p.A364A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1256	+			364					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1092T>A	CCDS9736.1																																																																																				0.517	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		19	43	0	0	0	0.007413	0	19	43				
ZBTB25	7597	broad.mit.edu	37	14	64957115	64957115	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:64957115G>C	ENST00000608382.1	-	2	328	c.137C>G	c.(136-138)tCt>tGt	p.S46C	ZBTB25_ENST00000394715.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46C	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAAATAGTTAGAAAAAGCAGC	0.328																																							uc001xhf.2		NA																	0				ovary(1)|skin(1)	2						c.(136-138)TCT>TGT		zinc finger protein 46							66.0	68.0	67.0					14																	64957115		2203	4300	6503	SO:0001583	missense	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64957115G>C	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.137C>G	14.37:g.64957115G>C	ENSP00000476746:p.Ser46Cys					ZBTB25_uc001xhc.2_Missense_Mutation_p.S46C|ZBTB25_uc001xhg.2_Missense_Mutation_p.S46C	p.S46C	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	2	320	-			46			BTB.		B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	c.137C>G	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620765	0.87460	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.39	5.39	0.77823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93698	0.7013	10	0.87932	D	0	-18.4104	19.5016	0.95097	0.0:0.0:1.0:0.0	.	46;46	P24278;G3V2K3	ZBT25_HUMAN;.	C	46	ENSP00000450718:S46C;ENSP00000451046:S46C;ENSP00000261683:S46C;ENSP00000378204:S46C	ENSP00000261683:S46C	S	-	2	0	ZBTB25	64026868	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.717000	0.98755	2.693000	0.91896	0.313000	0.20887	TCT		0.328	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		13	72	0	0	0	0.001855	0	13	72				
SLC39A9	55334	broad.mit.edu	37	14	69925101	69925101	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:69925101G>C	ENST00000336643.5	+	7	1393	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E216Q|SLC39A9_ENST00000031146.4_Missense_Mutation_p.E173Q	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	239					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCCTTTCAGAGGTGAACGC	0.468																																							uc001xle.2		NA																	0					0						c.(715-717)GAG>CAG		solute carrier family 39 (zinc transporter),							100.0	111.0	107.0					14																	69925101		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69925101G>C		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.715G>C	14.37:g.69925101G>C	ENSP00000336887:p.Glu239Gln					SLC39A9_uc010aqx.2_Missense_Mutation_p.E216Q|SLC39A9_uc001xlf.3_Intron|SLC39A9_uc001xlg.3_RNA	p.E239Q	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	7	1395	+			239					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.715G>C	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805579	0.50315	.	.	ENSG00000029364	ENST00000336643;ENST00000557046	T;T	0.47528	0.84;0.84	5.29	5.29	0.74685	.	0.103566	0.64402	D	0.000004	T	0.35537	0.0935	N	0.24115	0.695	0.54753	D	0.999989	B;B	0.32071	0.001;0.355	B;B	0.28385	0.004;0.089	T	0.11084	-1.0602	10	0.23302	T	0.38	-11.3574	18.9325	0.92571	0.0:0.0:1.0:0.0	.	216;239	Q9NUM3-2;Q9NUM3	.;S39A9_HUMAN	Q	239;216	ENSP00000336887:E239Q;ENSP00000451833:E216Q	ENSP00000031146:E239Q	E	+	1	0	SLC39A9	68994854	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.877000	0.87225	2.467000	0.83353	0.650000	0.86243	GAG		0.468	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		7	177	0	0	0	0.001984	0	7	177				
RGS6	9628	broad.mit.edu	37	14	72976888	72976888	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:72976888A>C	ENST00000553530.1	+	14	1199	c.992A>C	c.(991-993)aAa>aCa	p.K331T	RGS6_ENST00000404301.2_Missense_Mutation_p.K331T|RGS6_ENST00000555571.1_Missense_Mutation_p.K331T|RGS6_ENST00000406236.4_Missense_Mutation_p.K331T|RGS6_ENST00000434263.2_Missense_Mutation_p.K262T|RGS6_ENST00000556437.1_Missense_Mutation_p.K331T|RGS6_ENST00000402788.2_Missense_Mutation_p.K331T|RGS6_ENST00000407322.4_Missense_Mutation_p.K331T|RGS6_ENST00000343854.6_Missense_Mutation_p.K294T|RGS6_ENST00000553525.1_Missense_Mutation_p.K331T|RGS6_ENST00000355512.6_Missense_Mutation_p.K331T|RGS6_ENST00000554782.1_Missense_Mutation_p.K192T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	331					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCGAGTAAAAAGATGGGGC	0.468																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(991-993)AAA>ACA		regulator of G-protein signalling 6							114.0	129.0	124.0					14																	72976888		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976888A>C	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.992A>C	14.37:g.72976888A>C	ENSP00000452331:p.Lys331Thr					RGS6_uc010ttn.1_Missense_Mutation_p.K331T|RGS6_uc001xmx.3_Missense_Mutation_p.K331T|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.K331T|RGS6_uc010ttp.1_Missense_Mutation_p.K262T|RGS6_uc001xmz.1_Missense_Mutation_p.K192T	p.K331T	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1515	+			331					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.992A>C	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703667	0.48412	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.72	3.38	0.38709	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.080138	0.85682	D	0.000000	T	0.41419	0.1158	L	0.53671	1.685	0.58432	D	0.999992	P;B;P;B	0.52316	0.952;0.341;0.908;0.231	P;B;P;B	0.56163	0.793;0.343;0.598;0.186	T	0.17653	-1.0362	10	0.59425	D	0.04	-6.7478	10.0122	0.41992	0.8639:0.0:0.1361:0.0	.	262;331;336;331	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	T	331;331;331;331;331;331;331;331;331;294;303;262;192;192	ENSP00000451030:K331T;ENSP00000450936:K331T;ENSP00000452331:K331T;ENSP00000451855:K331T;ENSP00000347699:K331T;ENSP00000385243:K331T;ENSP00000384218:K331T;ENSP00000384612:K331T;ENSP00000383953:K331T;ENSP00000341199:K294T;ENSP00000412144:K262T;ENSP00000451912:K192T	ENSP00000341199:K294T	K	+	2	0	RGS6	72046641	1.000000	0.71417	0.616000	0.29078	0.770000	0.43624	6.204000	0.72143	0.539000	0.28788	-0.250000	0.11733	AAA		0.468	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			18	162	0	0	0	0.00499	0	18	162				
ELMSAN1	91748	broad.mit.edu	37	14	74206049	74206049	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	221	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTGGTGGCCGAATGCCAGCT	0.652																																							uc001xot.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(661-663)TTC>TTT		hypothetical protein LOC91748							38.0	41.0	40.0					14																	74206049		2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74206049G>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.663C>T	14.37:g.74206049G>A						C14orf43_uc001xou.2_Silent_p.F221F|C14orf43_uc010tud.1_Silent_p.F221F|C14orf43_uc010arw.2_RNA	p.F221F	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	2	1446	-			221			Gln-rich.		Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.663C>T	CCDS9819.1																																																																																				0.652	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	71	0	0	0	0.00308	0	7	71				
IRF2BPL	64207	broad.mit.edu	37	14	77492113	77492113	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:77492113G>C	ENST00000238647.3	-	1	2921	c.2023C>G	c.(2023-2025)Cgt>Ggt	p.R675G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	675					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TCCCCGTTACGTGATGCCAAG	0.677																																							uc001xsy.2		NA																	0					0						c.(2023-2025)CGT>GGT		chromosome 14 open reading frame 4							19.0	21.0	21.0					14																	77492113		2196	4292	6488	SO:0001583	missense	64207					nucleus		g.chr14:77492113G>C	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.2023C>G	14.37:g.77492113G>C	ENSP00000238647:p.Arg675Gly						p.R675G	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2922	-			675					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.2023C>G	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182908	0.57800	.	.	ENSG00000119669	ENST00000238647	T	0.70516	-0.49	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000001	T	0.78541	0.4299	L	0.45137	1.4	0.51482	D	0.999928	D	0.89917	1.0	D	0.77004	0.989	T	0.79169	-0.1914	10	0.46703	T	0.11	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	675	Q9H1B7	I2BPL_HUMAN	G	675	ENSP00000238647:R675G	ENSP00000238647:R675G	R	-	1	0	IRF2BPL	76561866	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	4.866000	0.63005	2.216000	0.71823	0.462000	0.41574	CGT		0.677	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		9	41	0	0	0	0.004482	0	9	41				
ISM2	145501	broad.mit.edu	37	14	77942393	77942393	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:77942393G>T	ENST00000342219.4	-	7	1317	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	ISM2_ENST00000393684.3_Missense_Mutation_p.Q333K|ISM2_ENST00000412904.1_Missense_Mutation_p.Q340K|ISM2_ENST00000429906.1_Missense_Mutation_p.Q340K|ISM2_ENST00000493585.1_3'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	421	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGCAGCATCTGGCTCAGATAC	0.602																																							uc001xtz.2		NA																	0				skin(1)	1						c.(1261-1263)CAG>AAG		isthmin 2 homolog isoform 1							45.0	48.0	47.0					14																	77942393		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77942393G>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1261C>A	14.37:g.77942393G>T	ENSP00000341490:p.Gln421Lys					ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.Q333K|ISM2_uc010tvl.1_Missense_Mutation_p.Q340K	p.Q421K	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			7	1335	-			421			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1261C>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104940	0.06967	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.20598	2.06;2.09;2.1;2.4	4.98	2.95	0.34219	AMOP (3);	0.187831	0.44902	D	0.000409	T	0.09202	0.0227	N	0.16478	0.41	0.37849	D	0.929302	B;B	0.21821	0.018;0.061	B;B	0.23852	0.029;0.049	T	0.18555	-1.0333	10	0.02654	T	1	-5.673	5.8178	0.18506	0.1056:0.0:0.4516:0.4428	.	340;421	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	K	421;340;340;333	ENSP00000341490:Q421K;ENSP00000416773:Q340K;ENSP00000395387:Q340K;ENSP00000377289:Q333K	ENSP00000341490:Q421K	Q	-	1	0	ISM2	77012146	1.000000	0.71417	0.888000	0.34837	0.152000	0.21847	2.426000	0.44731	1.098000	0.41479	0.561000	0.74099	CAG		0.602	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		17	45	1	0	6.94344e-10	0.006122	9.43307e-10	17	45				
KCNK13	56659	broad.mit.edu	37	14	90651010	90651010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:90651010G>T	ENST00000282146.4	+	2	1331	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGGACAGCGGGTGCTGCCCG	0.532																																							uc001xye.1		NA																	0				skin(1)	1						c.(889-891)GGG>GTG		potassium channel, subfamily K, member 13							73.0	79.0	77.0					14																	90651010		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651010G>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.890G>T	14.37:g.90651010G>T	ENSP00000282146:p.Gly297Val						p.G297V	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1332	+		all_cancers(154;0.186)	297			Cytoplasmic (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.890G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172518	0.01646	.	.	ENSG00000152315	ENST00000282146	T	0.11930	2.73	5.3	1.63	0.23807	.	1.327990	0.05258	N	0.515280	T	0.15262	0.0368	L	0.50333	1.59	0.19575	N	0.999964	B	0.14438	0.01	B	0.20184	0.028	T	0.36040	-0.9764	10	0.31617	T	0.26	.	8.2203	0.31537	0.2992:0.1137:0.5871:0.0	.	297	Q9HB14	KCNKD_HUMAN	V	297	ENSP00000282146:G297V	ENSP00000282146:G297V	G	+	2	0	KCNK13	89720763	0.851000	0.29673	0.013000	0.15412	0.038000	0.13279	1.403000	0.34612	0.499000	0.27970	0.655000	0.94253	GGG		0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		17	91	1	0	6.49762e-13	0.006122	9.47622e-13	17	91				
SERPINA1	5265	broad.mit.edu	37	14	94847330	94847330	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:94847330C>T	ENST00000448921.1	-	5	1367	c.795G>A	c.(793-795)ctG>ctA	p.L265L	SERPINA1_ENST00000393088.4_Silent_p.L265L|SERPINA1_ENST00000355814.4_Silent_p.L265L|SERPINA1_ENST00000440909.1_Silent_p.L265L|SERPINA1_ENST00000402629.1_Silent_p.L265L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Silent_p.L265L|SERPINA1_ENST00000404814.4_Silent_p.L265L|SERPINA1_ENST00000437397.1_Silent_p.L265L|SERPINA1_ENST00000393087.4_Silent_p.L265L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	265					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTATTTCATCAGCAGCACCC	0.512																																							uc001ycx.3		NA																	0				skin(1)	1						c.(793-795)CTG>CTA		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						138.0	115.0	123.0					14																	94847330		2203	4300	6503	SO:0001819	synonymous_variant	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847330C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.795G>A	14.37:g.94847330C>T						SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.L265L|SERPINA1_uc010aux.2_Silent_p.L265L|SERPINA1_uc001ycy.3_Silent_p.L265L|SERPINA1_uc010auy.2_Silent_p.L265L|SERPINA1_uc001ycz.3_Silent_p.L265L|SERPINA1_uc010auz.2_Silent_p.L265L|SERPINA1_uc010ava.2_Silent_p.L265L|SERPINA1_uc001ydb.3_Silent_p.L265L|SERPINA1_uc010avb.2_Silent_p.L265L|SERPINA1_uc001ydc.3_Silent_p.L265L|SERPINA1_uc001yda.1_Silent_p.L265L	p.L265L	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1056	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	265					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.795G>A	CCDS9925.1																																																																																				0.512	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		9	73	0	0	0	0.004482	0	9	73				
TCL1B	9623	broad.mit.edu	37	14	96152829	96152829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:96152829C>A	ENST00000340722.7	+	1	76	c.25C>A	c.(25-27)Cta>Ata	p.L9I	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	9										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCTGTGCGTCTAGGGGTGCC	0.602																																							uc001yez.2		NA																	0				ovary(1)	1						c.(25-27)CTA>ATA		T-cell leukemia/lymphoma 1B							96.0	100.0	98.0					14																	96152829		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96152829C>A	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.25C>A	14.37:g.96152829C>A	ENSP00000343223:p.Leu9Ile					TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.L9I	p.L9I	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	67	+		all_cancers(154;0.103)	9					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.25C>A	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008118	0.07773	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.30981	1.51	2.78	-1.55	0.08558	.	.	.	.	.	T	0.20455	0.0492	L	0.47716	1.5	0.09310	N	1	B	0.24963	0.115	B	0.21708	0.036	T	0.25950	-1.0117	9	0.38643	T	0.18	.	1.9519	0.03368	0.1884:0.3394:0.3471:0.125	.	9	O95988	TCL1B_HUMAN	I	9	ENSP00000343223:L9I	ENSP00000343223:L9I	L	+	1	2	TCL1B	95222582	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.853000	0.04303	-0.368000	0.08040	0.455000	0.32223	CTA		0.602	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			17	77	1	0	3.45872e-05	0.004007	4.04321e-05	17	77				
PAPOLA	10914	broad.mit.edu	37	14	97022202	97022202	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:97022202A>T	ENST00000216277.8	+	18	1903	c.1683A>T	c.(1681-1683)ccA>ccT	p.P561P	PAPOLA_ENST00000392990.2_Silent_p.P561P	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	561	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCCTGCTCCAGCTGTAACAG	0.323																																					NSCLC(19;254 734 11908 35501 39234)	NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NA																	0					0						c.(1681-1683)CCA>CCT		poly(A) polymerase alpha							81.0	83.0	82.0					14																	97022202		2203	4300	6503	SO:0001819	synonymous_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022202A>T	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1683A>T	14.37:g.97022202A>T						PAPOLA_uc001yfr.2_Silent_p.P560P|PAPOLA_uc010twv.1_Silent_p.P561P|PAPOLA_uc010avp.2_Silent_p.P311P	p.P561P	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	18	1893	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	561			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	c.1683A>T	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	9.718	1.158830	0.21454	.	.	ENSG00000090060	ENST00000556459	.	.	.	5.81	4.67	0.58626	.	.	.	.	.	T	0.61974	0.2390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59516	-0.7440	4	.	.	.	.	10.5058	0.44832	0.927:0.0:0.073:0.0	.	.	.	.	L	62	.	.	Q	+	2	0	PAPOLA	96091955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.419000	0.44671	1.142000	0.42291	0.533000	0.62120	CAG		0.323	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			8	98	0	0	0	0.006214	0	8	98				
TRPM1	4308	broad.mit.edu	37	15	31359339	31359339	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:31359339C>A	ENST00000256552.6	-	6	692	c.545G>T	c.(544-546)aGa>aTa	p.R182I	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R160I|TRPM1_ENST00000542188.1_Missense_Mutation_p.R199I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACCCGGCCTCTGGACTTGGA	0.488																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(478-480)AGA>ATA		transient receptor potential cation channel,							117.0	115.0	116.0					15																	31359339		1903	4115	6018	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359339C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.545G>T	15.37:g.31359339C>A	ENSP00000256552:p.Arg182Ile					TRPM1_uc010azy.2_Missense_Mutation_p.R73I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	p.R160I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	5	607	-		all_lung(180;1.92e-11)	160			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.479G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599480	0.96614	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.58506	0.33;0.33;0.33	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.72353	2.195	0.80722	D	1	P;D	0.54047	0.522;0.964	P;P	0.56700	0.713;0.804	T	0.74228	-0.3733	10	0.87932	D	0	-32.2711	20.7342	0.99715	0.0:1.0:0.0:0.0	.	160;160	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	160;199;182;160	ENSP00000380897:R160I;ENSP00000437849:R199I;ENSP00000256552:R182I	ENSP00000256552:R182I	R	-	2	0	TRPM1	29146631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.066000	0.71185	2.906000	0.99361	0.655000	0.94253	AGA		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		14	89	1	0	2.62699e-14	0.003163	3.93006e-14	14	89				
RYR3	6263	broad.mit.edu	37	15	33603268	33603269	+	Missense_Mutation	DNP	GG	GG	TT	rs534586557		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:33603268_33603269GG>TT	ENST00000389232.4	+	1	92_93	c.22_23GG>TT	c.(22-24)GGc>TTc	p.G8F	RP11-489D6.2_ENST00000559457.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.G8F|RP11-489D6.2_ENST00000561458.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	8					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGAGAAGGAGGCGAGGACGAG	0.743																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(22-24)GGC>TTC		ryanodine receptor 3																																				SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33603268_33603269GG>TT		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		Exception_encountered	15.37:g.33603268_33603269delinsTT	ENSP00000373884:p.Gly8Phe					RYR3_uc010bar.2_Missense_Mutation_p.G8F	p.G8F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	1	92_93	+		all_lung(180;7.18e-09)	8			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	DNP	ENST00000389232.4	37	c.22_23GG>TT	CCDS45210.1																																																																																				0.743	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	17	0	0	0	0.004672	0	7	17				
RYR3	6263	broad.mit.edu	37	15	34130564	34130564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:34130564G>A	ENST00000389232.4	+	89	12453	c.12383G>A	c.(12382-12384)gGt>gAt	p.G4128D	RYR3_ENST00000415757.3_Missense_Mutation_p.G4123D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4128					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATTGCGGGTGAAGAGGAA	0.493																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12382-12384)GGT>GAT		ryanodine receptor 3							146.0	144.0	145.0					15																	34130564		1888	4098	5986	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130564G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12383G>A	15.37:g.34130564G>A	ENSP00000373884:p.Gly4128Asp					RYR3_uc010bar.2_Missense_Mutation_p.G4123D	p.G4128D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12453	+		all_lung(180;7.18e-09)	4128					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12383G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777261	0.00640	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96365	-3.99	5.8	2.55	0.30701	.	0.542637	0.18504	N	0.139255	D	0.90448	0.7009	L	0.39085	1.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.76653	-0.2880	10	0.11794	T	0.64	.	4.9198	0.13864	0.2483:0.1818:0.5699:0.0	.	4123;4128	Q15413-2;Q15413	.;RYR3_HUMAN	D	4128;4124	ENSP00000373884:G4128D	ENSP00000354735:G4124D	G	+	2	0	RYR3	31917856	0.849000	0.29639	0.085000	0.20634	0.100000	0.18952	1.501000	0.35693	1.453000	0.47775	0.563000	0.77884	GGT		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			40	82	0	0	0	0.00874	0	40	82				
SPRED1	161742	broad.mit.edu	37	15	38632064	38632064	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:38632064A>G	ENST00000299084.4	+	5	1410	c.550A>G	c.(550-552)Aga>Gga	p.R184G		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	184					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTGAATGCCAGAAGAGTCTA	0.373									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(550-552)AGA>GGA		sprouty-related protein 1 with EVH-1 domain							94.0	93.0	93.0					15																	38632064		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38632064A>G	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.550A>G	15.37:g.38632064A>G	ENSP00000299084:p.Arg184Gly						p.R184G	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	885	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	184					B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.550A>G	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814587	0.50527	.	.	ENSG00000166068	ENST00000299084	T	0.74842	-0.88	4.64	3.48	0.39840	.	0.512655	0.21715	N	0.070217	T	0.67887	0.2941	L	0.61218	1.895	0.41125	D	0.98584	P	0.42456	0.78	B	0.38106	0.265	T	0.63646	-0.6590	10	0.29301	T	0.29	-0.636	10.4301	0.44403	0.8366:0.1634:0.0:0.0	.	184	Q7Z699	SPRE1_HUMAN	G	184	ENSP00000299084:R184G	ENSP00000299084:R184G	R	+	1	2	SPRED1	36419356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.147000	0.50639	0.700000	0.31782	0.477000	0.44152	AGA		0.373	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			14	34	0	0	0	0.00245	0	14	34				
INO80	54617	broad.mit.edu	37	15	41377671	41377671	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:41377671C>T	ENST00000361937.3	-	7	1193	c.769G>A	c.(769-771)Gat>Aat	p.D257N	INO80_ENST00000401393.3_Missense_Mutation_p.D257N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	257	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGGTGCATCGTGAGAAAAC	0.458																																							uc001zni.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(769-771)GAT>AAT		INO80 complex homolog 1							142.0	131.0	135.0					15																	41377671		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41377671C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.769G>A	15.37:g.41377671C>T	ENSP00000355205:p.Asp257Asn					INO80_uc010ucu.1_RNA	p.D257N	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			7	982	-			257			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.769G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343908	0.95807	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91124	-2.79;-2.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89543	0.3794	10	0.24483	T	0.36	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	257	Q9ULG1	INO80_HUMAN	N	257	ENSP00000355205:D257N;ENSP00000384686:D257N	ENSP00000355205:D257N	D	-	1	0	INO80	39164963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	GAT		0.458	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		11	93	0	0	0	0.008291	0	11	93				
TMEM62	80021	broad.mit.edu	37	15	43446871	43446871	+	Splice_Site	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:43446871G>A	ENST00000260403.2	+	9	1303	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	342						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TCATTTTAGAGTCTTGGCCTT	0.378																																							uc001zqr.2		NA																	0				ovary(1)|breast(1)	2						c.(1024-1026)GTC>ATC		transmembrane protein 62							195.0	165.0	175.0					15																	43446871		2203	4299	6502	SO:0001630	splice_region_variant	80021					integral to membrane		g.chr15:43446871G>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1023-1G>A	15.37:g.43446871G>A						TMEM62_uc010bda.2_Missense_Mutation_p.V212I	p.V342I	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	9	1303	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	342					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1024G>A	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469741	0.12461	.	.	ENSG00000137842	ENST00000260403	T	0.39592	1.07	5.54	-1.41	0.08941	.	0.273304	0.40222	N	0.001146	T	0.20780	0.0500	N	0.13098	0.295	0.34937	D	0.749949	B	0.06786	0.001	B	0.06405	0.002	T	0.16070	-1.0415	10	0.22109	T	0.4	-0.9696	10.2122	0.43147	0.7376:0.0:0.2624:0.0	.	342	Q0P6H9	TMM62_HUMAN	I	342	ENSP00000260403:V342I	ENSP00000260403:V342I	V	+	1	0	TMEM62	41234163	1.000000	0.71417	0.986000	0.45419	0.807000	0.45602	0.864000	0.27926	-0.080000	0.12685	-0.439000	0.05793	GTC		0.378	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956	Missense_Mutation	6	34	0	0	0	0.001168	0	6	34				
FAM214A	56204	broad.mit.edu	37	15	52905960	52905960	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:52905960T>A	ENST00000261844.7	-	3	263	c.111A>T	c.(109-111)gtA>gtT	p.V37V	FAM214A_ENST00000546305.2_Silent_p.V44V	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	37																	TTCGACCTTTTACAGAACATT	0.428																																							uc002acg.3		NA																	0					0						c.(109-111)GTA>GTT		hypothetical protein LOC56204							134.0	127.0	130.0					15																	52905960		1924	4124	6048	SO:0001819	synonymous_variant	56204							g.chr15:52905960T>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.111A>T	15.37:g.52905960T>A						KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Intron|KIAA1370_uc010ugf.1_Silent_p.V44V	p.V37V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	3	264	-			37					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.111A>T	CCDS45263.1																																																																																				0.428	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		4	31	0	0	0	0.009096	0	4	31				
WDR72	256764	broad.mit.edu	37	15	53809911	53809911	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:53809911G>A	ENST00000396328.1	-	20	3533	c.3294C>T	c.(3292-3294)ccC>ccT	p.P1098P	WDR72_ENST00000360509.5_Silent_p.P1098P|WDR72_ENST00000559418.1_Silent_p.P1108P|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Silent_p.P1095P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1098										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACACCTTGCAGGGGCAGACCT	0.363																																							uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(3292-3294)CCC>CCT		WD repeat domain 72							138.0	130.0	133.0					15																	53809911		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53809911G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3294C>T	15.37:g.53809911G>A						WDR72_uc010bfh.1_RNA	p.P1098P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	20	3336	-			1098					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.3294C>T	CCDS10151.1																																																																																				0.363	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		20	88	0	0	0	0.001882	0	20	88				
C15orf59	388135	broad.mit.edu	37	15	74043389	74043389	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:74043389C>T	ENST00000569673.1	-	2	1287	c.83G>A	c.(82-84)cGc>cAc	p.R28H	C15orf59_ENST00000379822.4_Missense_Mutation_p.R28H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	28										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATCTTCATGCGCTGTCGAAT	0.642																																							uc002avy.2		NA																	0				pancreas(1)	1						c.(82-84)CGC>CAC		hypothetical protein LOC388135							114.0	95.0	101.0					15																	74043389		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74043389C>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.83G>A	15.37:g.74043389C>T	ENSP00000457205:p.Arg28His						p.R28H	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			1	428	-			28						Missense_Mutation	SNP	ENST00000569673.1	37	c.83G>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181948	0.78677	.	.	ENSG00000205363	ENST00000379822	.	.	.	4.82	4.82	0.62117	.	0.065733	0.64402	D	0.000012	T	0.35189	0.0923	N	0.17474	0.49	0.48236	D	0.99961	P	0.44195	0.828	B	0.35353	0.201	T	0.29971	-0.9994	9	0.38643	T	0.18	.	16.4866	0.84185	0.0:1.0:0.0:0.0	.	28	Q2T9L4	CO059_HUMAN	H	28	.	ENSP00000369150:R28H	R	-	2	0	C15orf59	71830442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.025000	0.57225	2.226000	0.72624	0.561000	0.74099	CGC		0.642	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		14	90	0	0	0	0.001855	0	14	90				
TM6SF1	53346	broad.mit.edu	37	15	83790720	83790720	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:83790720T>A	ENST00000322019.9	+	5	720	c.446T>A	c.(445-447)aTg>aAg	p.M149K	TM6SF1_ENST00000565774.1_Missense_Mutation_p.M149K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.M149K|TM6SF1_ENST00000379386.4_Missense_Mutation_p.M152K			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	149						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTATTATTATGAGTGTTGTT	0.318																																							uc002bjp.2		NA																	0				ovary(1)	1						c.(445-447)ATG>AAG		transmembrane 6 superfamily member 1 isoform 1							255.0	244.0	248.0					15																	83790720		2203	4298	6501	SO:0001583	missense	53346					integral to membrane		g.chr15:83790720T>A	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.446T>A	15.37:g.83790720T>A	ENSP00000317000:p.Met149Lys					TM6SF1_uc010bmq.2_Missense_Mutation_p.M149K|TM6SF1_uc002bjq.2_Missense_Mutation_p.M149K|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.M1K	p.M149K	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			5	555	+			149			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.446T>A	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450928	0.84209	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390	T;T;T	0.28454	1.61;1.61;1.61	5.76	5.76	0.90799	.	0.071354	0.85682	D	0.000000	T	0.39784	0.1091	M	0.72894	2.215	0.80722	D	1	P;P;P	0.52842	0.956;0.874;0.956	P;B;P	0.45071	0.468;0.365;0.468	T	0.36648	-0.9739	10	0.51188	T	0.08	-14.4035	15.3452	0.74330	0.0:0.0:0.0:1.0	.	149;149;149	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	K	149;152;149;149	ENSP00000317000:M149K;ENSP00000368696:M152K;ENSP00000368700:M149K	ENSP00000317000:M149K	M	+	2	0	TM6SF1	81581724	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.272000	0.72575	2.326000	0.78906	0.523000	0.50628	ATG		0.318	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		23	82	0	0	0	0.00333	0	23	82				
PIGQ	9091	broad.mit.edu	37	16	624190	624190	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:624190C>G	ENST00000026218.5	+	2	204	c.116C>G	c.(115-117)cCc>cGc	p.P39R	PIGQ_ENST00000470411.2_Missense_Mutation_p.P39R|PIGQ_ENST00000321878.5_Missense_Mutation_p.P39R|PIGQ_ENST00000409527.2_Missense_Mutation_p.P39R	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	39					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCACTTTCCCTTCATCCCC	0.701																																							uc002cho.2		NA																	0				central_nervous_system(1)	1						c.(115-117)CCC>CGC		phosphatidylinositol glycan anchor biosynthesis,							69.0	55.0	60.0					16																	624190		2199	4298	6497	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624190C>G	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.116C>G	16.37:g.624190C>G	ENSP00000026218:p.Pro39Arg					PIGQ_uc010bqw.2_Missense_Mutation_p.P39R|PIGQ_uc002chm.2_Missense_Mutation_p.P39R|PIGQ_uc002chn.2_Missense_Mutation_p.P39R|PIGQ_uc010uui.1_Missense_Mutation_p.P53R	p.P39R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN			2	218	+		Hepatocellular(780;0.00335)	39					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.116C>G	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804848	0.90623	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.65732	0.01;-0.12;-0.05;-0.05;-0.12;0.1;1.02;-0.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.999;1.0	T	0.80046	-0.1546	10	0.87932	D	0	-40.2173	17.719	0.88345	0.0:1.0:0.0:0.0	.	53;39;39;39	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	R	39	ENSP00000293874:P39R;ENSP00000386760:P39R;ENSP00000386554:P39R;ENSP00000413753:P39R;ENSP00000326674:P39R;ENSP00000387820:P39R;ENSP00000026218:P39R;ENSP00000439650:P39R	ENSP00000026218:P39R	P	+	2	0	PIGQ	564191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.617000	0.83032	2.418000	0.82041	0.511000	0.50034	CCC		0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		7	21	0	0	0	0.001984	0	7	21				
PKD1	5310	broad.mit.edu	37	16	2160655	2160655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:2160655C>A	ENST00000262304.4	-	15	4721	c.4513G>T	c.(4513-4515)Ggt>Tgt	p.G1505C	PKD1_ENST00000423118.1_Missense_Mutation_p.G1505C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1505	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCACCCACCGTCCCCCAGA	0.662																																							uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(4513-4515)GGT>TGT		polycystin 1 isoform 1 precursor							30.0	35.0	34.0					16																	2160655		2188	4290	6478	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160655C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4513G>T	16.37:g.2160655C>A	ENSP00000262304:p.Gly1505Cys					PKD1_uc002cot.1_Missense_Mutation_p.G1505C	p.G1505C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	4722	-			1505			Extracellular (Potential).|PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4513G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.126160	0.56721	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	D;D	0.85629	-2.01;-2.01	5.36	5.36	0.76844	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.054356	0.64402	D	0.000001	D	0.94656	0.8277	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95651	0.8707	10	0.72032	D	0.01	.	19.1044	0.93287	0.0:1.0:0.0:0.0	.	1505;1505	P98161-3;P98161	.;PKD1_HUMAN	C	1505;1505;1186	ENSP00000262304:G1505C;ENSP00000399501:G1505C	ENSP00000262304:G1505C	G	-	1	0	PKD1	2100656	0.997000	0.39634	0.094000	0.20943	0.003000	0.03518	4.557000	0.60782	2.519000	0.84933	0.550000	0.68814	GGT		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			27	43	1	0	4.31634e-10	0.002445	5.89586e-10	27	43				
IL32	9235	broad.mit.edu	37	16	3119310	3119310	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3119310A>T	ENST00000534507.1	+	6	870	c.659A>T	c.(658-660)gAg>gTg	p.E220V	IL32_ENST00000548246.1_Missense_Mutation_p.E134V|IL32_ENST00000396890.2_Missense_Mutation_p.E220V|IL32_ENST00000531965.1_Missense_Mutation_p.E164V|IL32_ENST00000325568.5_Missense_Mutation_p.E174V|IL32_ENST00000525643.2_Missense_Mutation_p.E174V|IL32_ENST00000008180.9_Missense_Mutation_p.E154V|IL32_ENST00000528163.2_Missense_Mutation_p.E174V|IL32_ENST00000551122.1_Missense_Mutation_p.E117V|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000549213.1_Missense_Mutation_p.E117V|IL32_ENST00000382213.3_Missense_Mutation_p.E165V|IL32_ENST00000444393.3_Missense_Mutation_p.E174V|IL32_ENST00000440815.3_Missense_Mutation_p.E174V|IL32_ENST00000529699.1_Missense_Mutation_p.E154V|IL32_ENST00000551513.1_Missense_Mutation_p.E211V|IL32_ENST00000552356.1_Missense_Mutation_p.E154V|IL32_ENST00000526464.2_Missense_Mutation_p.E174V|IL32_ENST00000529550.1_Missense_Mutation_p.E174V|IL32_ENST00000552664.1_Missense_Mutation_p.E174V|IL32_ENST00000548652.1_Missense_Mutation_p.E165V|IL32_ENST00000552936.1_Missense_Mutation_p.E198V|IL32_ENST00000548476.1_Missense_Mutation_p.E220V|IL32_ENST00000530538.2_Missense_Mutation_p.E174V|IL32_ENST00000530890.1_Missense_Mutation_p.E154V|IL32_ENST00000533097.2_Missense_Mutation_p.E174V|IL32_ENST00000396887.3_Missense_Mutation_p.E117V			P24001	IL32_HUMAN	interleukin 32	220					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGGGACAAGGAGGAGCTGACA	0.582																																							uc002cto.2		NA																	0				pancreas(1)	1						c.(658-660)GAG>GTG		interleukin 32 isoform B							90.0	115.0	106.0					16																	3119310		2197	4300	6497	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119310A>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.659A>T	16.37:g.3119310A>T	ENSP00000431775:p.Glu220Val					IL32_uc002ctk.2_Missense_Mutation_p.E117V|IL32_uc010uwp.1_Missense_Mutation_p.E154V|IL32_uc010btb.2_Missense_Mutation_p.E164V|IL32_uc002ctl.2_Missense_Mutation_p.E174V|IL32_uc002ctm.2_Missense_Mutation_p.E174V|IL32_uc002ctn.2_Missense_Mutation_p.E174V|IL32_uc002cts.3_Missense_Mutation_p.E174V|IL32_uc002ctp.2_Missense_Mutation_p.E154V|IL32_uc002ctq.2_Missense_Mutation_p.E220V|IL32_uc002ctr.2_Missense_Mutation_p.E154V|IL32_uc002ctt.2_Missense_Mutation_p.E174V|IL32_uc010uwr.1_Missense_Mutation_p.E134V|IL32_uc002ctu.2_Missense_Mutation_p.E165V	p.E220V	NM_004221	NP_004212	P24001	IL32_HUMAN			6	870	+			220					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.659A>T		.	.	.	.	.	.	.	.	.	.	A	11.73	1.724598	0.30593	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55760	0.51;0.52;0.5;0.5;0.51;0.51;0.51;0.51;0.5;0.51;0.52;0.51;0.51;0.51;0.51;0.51;0.52;0.51;0.51;0.5;0.52;0.52;0.51;0.51;0.52;0.51;0.51	1.26	1.26	0.21427	.	.	.	.	.	T	0.47192	0.1432	N	0.14661	0.345	0.09310	N	1	D;D;D;D;D;D;P	0.71674	0.998;0.968;0.968;0.998;0.998;0.968;0.89	P;P;P;P;P;P;P	0.61874	0.778;0.895;0.895;0.778;0.839;0.895;0.607	T	0.28004	-1.0057	9	0.87932	D	0	.	4.8302	0.13435	1.0:0.0:0.0:0.0	.	134;154;165;154;220;174;117	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	V	174;220;164;117;154;174;174;174;117;174;220;174;154;174;174;154;220;165;174;117;198;220;174;154;211;165;134	ENSP00000324742:E174V;ENSP00000431775:E220V;ENSP00000433177:E164V;ENSP00000380096:E117V;ENSP00000436937:E154V;ENSP00000450364:E174V;ENSP00000405063:E174V;ENSP00000437020:E174V;ENSP00000447496:E117V;ENSP00000432218:E174V;ENSP00000448354:E220V;ENSP00000432850:E174V;ENSP00000433747:E154V;ENSP00000411958:E174V;ENSP00000432917:E174V;ENSP00000008180:E154V;ENSP00000380099:E220V;ENSP00000446624:E165V;ENSP00000436929:E174V;ENSP00000447812:E117V;ENSP00000447033:E198V;ENSP00000449483:E220V;ENSP00000448683:E174V;ENSP00000446978:E154V;ENSP00000449147:E211V;ENSP00000371648:E165V;ENSP00000447979:E134V	ENSP00000008180:E154V	E	+	2	0	IL32	3059311	0.012000	0.17670	0.015000	0.15790	0.003000	0.03518	-0.211000	0.09332	0.869000	0.35703	0.444000	0.29173	GAG		0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		11	169	0	0	0	0.001368	0	11	169				
ZSCAN10	84891	broad.mit.edu	37	16	3139379	3139379	+	Missense_Mutation	SNP	C	C	A	rs567279199		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3139379C>A	ENST00000252463.2	-	5	1978	c.1891G>T	c.(1891-1893)Ggc>Tgc	p.G631C	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G549C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.G292C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	631					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCCGCTCGCCCGTGTGGCTG	0.706																																							uc002ctv.1		NA																	0				ovary(1)	1						c.(1891-1893)GGC>TGC		zinc finger and SCAN domain containing 10							22.0	26.0	24.0					16																	3139379		2157	4232	6389	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139379C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1891G>T	16.37:g.3139379C>A	ENSP00000252463:p.Gly631Cys					ZSCAN10_uc002cty.1_Missense_Mutation_p.G292C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G549C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G559C	p.G631C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1979	-			631					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1891G>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562345	0.65538	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.26660	1.72	5.12	5.12	0.69794	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000075	T	0.62171	0.2406	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.73531	-0.3953	10	0.87932	D	0	-33.5947	16.044	0.80704	0.0:1.0:0.0:0.0	.	292;564;631	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	564;631	ENSP00000252463:G631C	ENSP00000252463:G631C	G	-	1	0	ZSCAN10	3079380	0.828000	0.29307	0.103000	0.21229	0.720000	0.41350	2.584000	0.46102	2.375000	0.81037	0.561000	0.74099	GGC		0.706	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		8	38	1	0	5.18039e-06	0.00308	6.20988e-06	8	38				
ZSCAN10	84891	broad.mit.edu	37	16	3140317	3140317	+	Missense_Mutation	SNP	C	C	A	rs375481494		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3140317C>A	ENST00000252463.2	-	5	1040	c.953G>T	c.(952-954)gGg>gTg	p.G318V	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G236V|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	318					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAAGGAGCGCCCAGCCGGGTG	0.672																																							uc002ctv.1		NA																	0				ovary(1)	1						c.(952-954)GGG>GTG		zinc finger and SCAN domain containing 10							25.0	28.0	27.0					16																	3140317		2173	4244	6417	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140317C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.953G>T	16.37:g.3140317C>A	ENSP00000252463:p.Gly318Val					ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G236V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G246V	p.G318V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1041	-			318					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.953G>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986885	0.18889	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.27557	1.66	4.55	-5.44	0.02624	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.093260	0.01132	N	0.006003	T	0.18341	0.0440	N	0.21545	0.675	0.09310	N	1	B;B	0.23806	0.091;0.051	B;B	0.19148	0.024;0.016	T	0.27739	-1.0065	10	0.87932	D	0	0.8541	3.7475	0.08554	0.0797:0.3337:0.1714:0.4151	.	251;318	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	V	251;318	ENSP00000252463:G318V	ENSP00000252463:G318V	G	-	2	0	ZSCAN10	3080318	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.013000	0.13310	-0.655000	0.05387	-0.344000	0.07964	GGG		0.672	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		7	61	1	0	8.12818e-05	0.001984	9.28583e-05	7	61				
ZNF263	10127	broad.mit.edu	37	16	3339416	3339416	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3339416G>A	ENST00000219069.5	+	6	1786	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Nonsense_Mutation_p.W137*	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	304					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGAGAACCTGGAAGGTGTTCC	0.532																																							uc002cuq.2		NA																	0				skin(3)|ovary(1)	4						c.(910-912)GAA>AAA		zinc finger protein 263							86.0	97.0	93.0					16																	3339416		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339416G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.910G>A	16.37:g.3339416G>A	ENSP00000219069:p.Glu304Lys					ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	p.E304K	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1242	+			304					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.910G>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189858	0.57909	.	.	ENSG00000006194	ENST00000219069	T	0.05199	3.48	5.49	4.53	0.55603	.	0.234455	0.30285	N	0.009965	T	0.03305	0.0096	N	0.14661	0.345	0.80722	D	1	B	0.27853	0.191	B	0.23275	0.045	T	0.40979	-0.9534	10	0.08179	T	0.78	.	9.2437	0.37511	0.0978:0.0:0.9022:0.0	.	304	O14978	ZN263_HUMAN	K	304	ENSP00000219069:E304K	ENSP00000219069:E304K	E	+	1	0	ZNF263	3279417	0.015000	0.18098	0.043000	0.18650	0.176000	0.22953	1.029000	0.30140	1.533000	0.49186	0.655000	0.94253	GAA		0.532	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			30	150	0	0	0	0.003271	0	30	150				
USP7	7874	broad.mit.edu	37	16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002czl.2		NA																	0				ovary(3)	3						c.(1441-1443)GAT>CAT		ubiquitin specific peptidase 7							193.0	150.0	165.0					16																	8999176		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8999176C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1441G>C	16.37:g.8999176C>G	ENSP00000343535:p.Asp481His		OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	USP7_uc010uyk.1_Missense_Mutation_p.D382H|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D382H|USP7_uc002czk.2_Missense_Mutation_p.D465H|USP7_uc010uyl.1_RNA	p.D481H	NM_003470	NP_003461	Q93009	UBP7_HUMAN			14	1640	-			481					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1441G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885771	0.72410	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.09445	2.98;2.98;2.98	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72141	-0.4380	10	0.87932	D	0	.	19.3687	0.94475	0.0:1.0:0.0:0.0	.	481;465	Q93009;B7Z815	UBP7_HUMAN;.	H	481;489;382;382;423	ENSP00000343535:D481H;ENSP00000443646:D382H;ENSP00000439272:D423H	ENSP00000343535:D481H	D	-	1	0	USP7	8906677	1.000000	0.71417	0.970000	0.41538	0.411000	0.31082	7.668000	0.83897	2.573000	0.86826	0.561000	0.74099	GAT		0.458	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			19	97	0	0	0	0.008871	0	19	97				
PDILT	204474	broad.mit.edu	37	16	20370884	20370884	+	Missense_Mutation	SNP	C	C	G	rs148051428	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:20370884C>G	ENST00000302451.4	-	12	1760	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	504					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTCAACAGACAACAGCTATG	0.443																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(1510-1512)TTG>TTC		protein disulfide isomerase-like, testis							95.0	82.0	86.0					16																	20370884		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370884C>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1512G>C	16.37:g.20370884C>G	ENSP00000305465:p.Leu504Phe						p.L504F	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1735	-			504					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1512G>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062427	0.36373	.	.	ENSG00000169340	ENST00000302451	T	0.03580	3.88	4.51	-4.68	0.03309	.	0.281531	0.17472	N	0.173051	T	0.02156	0.0067	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.41124	-0.9526	10	0.56958	D	0.05	.	0.412	0.00443	0.2638:0.2778:0.1298:0.3287	.	504	Q8N807	PDILT_HUMAN	F	504	ENSP00000305465:L504F	ENSP00000305465:L504F	L	-	3	2	PDILT	20278385	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-1.721000	0.01870	-0.559000	0.06110	0.573000	0.79308	TTG		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		13	84	0	0	0	0.001855	0	13	84				
HS3ST2	9956	broad.mit.edu	37	16	22926316	22926316	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:22926316C>A	ENST00000261374.3	+	2	971	c.537C>A	c.(535-537)ccC>ccA	p.P179P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	179	Substrate binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGAAGACGCCCAGCTACTTTG	0.567																																							uc002dli.2		NA																	0				ovary(1)|pancreas(1)	2						c.(535-537)CCC>CCA		heparan sulfate D-glucosaminyl							93.0	88.0	89.0					16																	22926316		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926316C>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.537C>A	16.37:g.22926316C>A						HS3ST2_uc002dlj.2_RNA	p.P179P	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	609	+			179			Lumenal (Potential).|Substrate binding (By similarity).		Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.537C>A	CCDS10606.1																																																																																				0.567	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		35	55	1	0	1.08052e-11	0.004289	1.54301e-11	35	55				
PRKCB	5579	broad.mit.edu	37	16	24185863	24185863	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:24185863C>G	ENST00000321728.7	+	12	1531	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	PRKCB_ENST00000303531.7_Missense_Mutation_p.I452M	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	452	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAATTGCCATCGGTCTGTTCT	0.423																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1354-1356)ATC>ATG		protein kinase C, beta isoform 1	Vitamin E(DB00163)						97.0	93.0	95.0					16																	24185863		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24185863C>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1356C>G	16.37:g.24185863C>G	ENSP00000318315:p.Ile452Met					PRKCB_uc002dme.2_Missense_Mutation_p.I452M	p.I452M	NM_212535	NP_997700	P05771	KPCB_HUMAN			12	1553	+			452			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1356C>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058855	0.55325	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.65178	-0.14;-0.14	5.68	1.52	0.23074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053838	0.64402	N	0.000001	T	0.46034	0.1372	N	0.05124	-0.11	0.58432	D	0.99999	B;B	0.34264	0.392;0.446	B;P	0.46144	0.264;0.505	T	0.41088	-0.9528	10	0.52906	T	0.07	.	6.9188	0.24376	0.0:0.6103:0.1203:0.2694	.	452;452	P05771-2;P05771	.;KPCB_HUMAN	M	452	ENSP00000318315:I452M;ENSP00000305355:I452M	ENSP00000305355:I452M	I	+	3	3	PRKCB	24093364	0.052000	0.20516	1.000000	0.80357	0.997000	0.91878	-0.758000	0.04766	0.325000	0.23359	0.650000	0.86243	ATC		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		3	48	0	0	0	0.004672	0	3	48				
CACNG3	10368	broad.mit.edu	37	16	24372682	24372682	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:24372682A>T	ENST00000005284.3	+	4	1648	c.446A>T	c.(445-447)aAc>aTc	p.N149I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	149					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGGTTAAGCAACATCATTGGC	0.413																																							uc002dmf.2		NA																	0					0						c.(445-447)AAC>ATC		voltage-dependent calcium channel gamma-3							107.0	117.0	114.0					16																	24372682		2193	4299	6492	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372682A>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.446A>T	16.37:g.24372682A>T	ENSP00000005284:p.Asn149Ile						p.N149I	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1646	+			149			Helical; (Potential).			Missense_Mutation	SNP	ENST00000005284.3	37	c.446A>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570528	0.65765	.	.	ENSG00000006116	ENST00000005284	D	0.88509	-2.39	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92900	0.6338	10	0.21540	T	0.41	-27.0656	13.4948	0.61419	1.0:0.0:0.0:0.0	.	149	O60359	CCG3_HUMAN	I	149	ENSP00000005284:N149I	ENSP00000005284:N149I	N	+	2	0	CACNG3	24280183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.846000	0.53633	0.533000	0.62120	AAC		0.413	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		32	124	0	0	0	0.002836	0	32	124				
ITGAL	3683	broad.mit.edu	37	16	30505533	30505533	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:30505533G>T	ENST00000356798.6	+	12	1394	c.1214G>T	c.(1213-1215)gGt>gTt	p.G405V	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Splice_Site_p.G322V|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	405					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTTTCCTCAGGTTACACCGTG	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1213-1215)GGT>GTT		integrin alpha L isoform a precursor	Efalizumab(DB00095)						62.0	64.0	63.0					16																	30505533		2197	4300	6497	SO:0001630	splice_region_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30505533G>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1214-1G>T	16.37:g.30505533G>T						ITGAL_uc002dyj.3_Missense_Mutation_p.G322V|ITGAL_uc010vev.1_Intron	p.G405V	NM_002209	NP_002200	P20701	ITAL_HUMAN			12	1390	+			405			FG-GAP 4.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1214G>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230871	0.58777	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.54479	0.57;0.57	5.49	5.49	0.81192	.	0.111328	0.40908	D	0.000991	T	0.81574	0.4851	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87007	0.2120	9	.	.	.	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	322;405	Q96HB1;P20701	.;ITAL_HUMAN	V	405;322	ENSP00000349252:G405V;ENSP00000350886:G322V	.	G	+	2	0	ITGAL	30413034	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	5.735000	0.68587	2.740000	0.93945	0.563000	0.77884	GGT		0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Missense_Mutation	32	85	1	0	4.65686e-17	0.003755	7.29995e-17	32	85				
ZNF629	23361	broad.mit.edu	37	16	30793054	30793054	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:30793054T>A	ENST00000262525.4	-	3	2802	c.2595A>T	c.(2593-2595)ccA>ccT	p.P865P	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	865					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGAGACACCTGGGTGGCAGC	0.562																																							uc002dzs.1		NA																	0					0						c.(2593-2595)CCA>CCT		zinc finger protein 629							28.0	30.0	30.0					16																	30793054		1839	4097	5936	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793054T>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2595A>T	16.37:g.30793054T>A							p.P865P	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2803	-			865					Q15938	Silent	SNP	ENST00000262525.4	37	c.2595A>T	CCDS45463.1																																																																																				0.562	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		10	37	0	0	0	0.006214	0	10	37				
ITGAM	3684	broad.mit.edu	37	16	31283197	31283197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:31283197C>G	ENST00000287497.8	+	7	663	c.588C>G	c.(586-588)ttC>ttG	p.F196L	ITGAM_ENST00000544665.3_Missense_Mutation_p.F196L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	196	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGAAGAATTCCGGATTCACT	0.557																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(586-588)TTC>TTG		integrin alpha M isoform 2 precursor							56.0	56.0	56.0					16																	31283197		1913	4131	6044	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283197C>G	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.588C>G	16.37:g.31283197C>G	ENSP00000287497:p.Phe196Leu					ITGAM_uc002ebr.2_Missense_Mutation_p.F196L	p.F196L	NM_000632	NP_000623	P11215	ITAM_HUMAN			7	686	+			196			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.588C>G	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572299	0.13623	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.82803	-1.65;-1.65	5.5	2.48	0.30137	von Willebrand factor, type A (3);	.	.	.	.	T	0.73822	0.3636	L	0.48877	1.53	0.09310	N	1	B;B	0.18461	0.016;0.028	B;B	0.17098	0.011;0.017	T	0.57266	-0.7841	9	0.23302	T	0.38	.	5.4929	0.16787	0.0:0.6196:0.1446:0.2357	.	196;196	Q4VAK1;P11215	.;ITAM_HUMAN	L	196	ENSP00000441691:F196L;ENSP00000287497:F196L	ENSP00000287497:F196L	F	+	3	2	ITGAM	31190698	0.502000	0.26107	0.010000	0.14722	0.002000	0.02628	0.784000	0.26816	0.390000	0.25115	-0.224000	0.12420	TTC		0.557	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		16	45	0	0	0	0.004007	0	16	45				
ITGAD	3681	broad.mit.edu	37	16	31408773	31408773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:31408773C>G	ENST00000389202.2	+	3	280	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	77					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCAGCCCATCCCGCTGCACA	0.647																																							uc002ebv.1		NA																	0				skin(1)	1						c.(229-231)ATC>ATG		integrin, alpha D precursor							35.0	28.0	30.0					16																	31408773		2196	4295	6491	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31408773C>G	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.231C>G	16.37:g.31408773C>G	ENSP00000373854:p.Ile77Met					ITGAD_uc010vfl.1_Missense_Mutation_p.I77M|ITGAD_uc010cap.1_Missense_Mutation_p.I77M|ITGAD_uc002ebw.1_5'Flank	p.I77M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			3	280	+			77			FG-GAP 2.|Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.231C>G	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265414	0.40095	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.71817	-0.6	4.05	0.759	0.18438	.	.	.	.	.	T	0.77110	0.4082	M	0.68593	2.085	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.997	D;P;P	0.66602	0.945;0.87;0.87	T	0.63642	-0.6591	9	0.87932	D	0	.	4.6043	0.12368	0.4147:0.4754:0.0:0.1099	.	77;93;77	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	M	93;77	ENSP00000373854:I77M	ENSP00000373854:I77M	I	+	3	3	ITGAD	31316274	0.003000	0.15002	0.013000	0.15412	0.127000	0.20565	-0.161000	0.10026	0.060000	0.16281	0.650000	0.86243	ATC		0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		2	11	0	0	0	0.004672	0	2	11				
ABCC11	85320	broad.mit.edu	37	16	48250146	48250146	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:48250146T>C	ENST00000394747.1	-	6	1179	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	ABCC11_ENST00000394748.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y277C|ABCC11_ENST00000537808.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y277C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	277	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TAGGGGTCCATAGCACACCCC	0.478																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(829-831)TAT>TGT		ATP-binding cassette, sub-family C, member 11							204.0	184.0	191.0					16																	48250146		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250146T>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.830A>G	16.37:g.48250146T>C	ENSP00000378230:p.Tyr277Cys					ABCC11_uc002efg.1_Missense_Mutation_p.Y277C|ABCC11_uc002efh.1_Missense_Mutation_p.Y277C|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.Y277C	p.Y277C	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			6	1180	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	277			ABC transmembrane type-1 1.|Helical; (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.830A>G	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441257	0.25900	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	4.89	0.84	0.18912	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.210963	0.42172	D	0.000758	D	0.92087	0.7492	L	0.60455	1.87	0.09310	N	1	D;D	0.71674	0.998;0.997	P;D	0.71656	0.906;0.974	D	0.84299	0.0504	10	0.59425	D	0.04	-4.0153	8.0788	0.30733	0.4658:0.0:0.0:0.5342	.	277;277	Q96J66-2;Q96J66	.;ABCCB_HUMAN	C	277	ENSP00000311326:Y277C;ENSP00000349017:Y277C;ENSP00000378231:Y277C;ENSP00000378230:Y277C;ENSP00000438530:Y277C	ENSP00000311326:Y277C	Y	-	2	0	ABCC11	46807647	0.016000	0.18221	0.623000	0.29173	0.068000	0.16541	0.255000	0.18333	0.245000	0.21373	0.533000	0.62120	TAT		0.478	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		22	134	0	0	0	0.004656	0	22	134				
ZNF423	23090	broad.mit.edu	37	16	49671294	49671294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:49671294T>C	ENST00000561648.1	-	4	1822	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ZNF423_ENST00000562520.1_Missense_Mutation_p.N530S|ZNF423_ENST00000562871.1_Missense_Mutation_p.N530S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N590S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N473S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N530S|ZNF423_ENST00000567169.1_Missense_Mutation_p.N473S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	590					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGGAATGTTCTTGTGGTT	0.572																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1768-1770)AAC>AGC		zinc finger protein 423							136.0	110.0	119.0					16																	49671294		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671294T>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1769A>G	16.37:g.49671294T>C	ENSP00000455426:p.Asn590Ser					ZNF423_uc010vgn.1_Missense_Mutation_p.N473S	p.N590S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2067	-		all_cancers(37;0.0155)	590					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1769A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780855	0.49891	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09445	2.98;3.05	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.29908	0.895	0.52501	D	0.999956	D	0.71674	0.998	D	0.81914	0.995	T	0.02437	-1.1159	9	.	.	.	.	14.3363	0.66592	0.0:0.0:0.0:1.0	.	590	Q2M1K9	ZN423_HUMAN	S	590;473	ENSP00000262383:N590S;ENSP00000442321:N473S	.	N	-	2	0	ZNF423	48228795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	1.793000	0.52555	0.459000	0.35465	AAC		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		21	78	0	0	0	0.010504	0	21	78				
CES3	23491	broad.mit.edu	37	16	66997479	66997479	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:66997479C>G	ENST00000303334.4	+	3	444	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.L125V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	125						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGGACTGCCTGGTCCTCAA	0.592																																							uc002eqt.2		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(373-375)CTG>GTG		carboxylesterase 3 precursor							91.0	79.0	83.0					16																	66997479		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997479C>G	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.373C>G	16.37:g.66997479C>G	ENSP00000304782:p.Leu125Val					CES3_uc010cdz.2_Missense_Mutation_p.L125V|CES3_uc010cea.2_RNA	p.L125V	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	3	446	+		Ovarian(137;0.0563)	125					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.373C>G	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627112	0.66901	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	D;D	0.90563	-2.69;-2.69	3.76	1.81	0.25067	Carboxylesterase, type B (1);	0.000000	0.33075	N	0.005317	D	0.96620	0.8897	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94679	0.7863	10	0.87932	D	0	.	7.6056	0.28100	0.0:0.7049:0.0:0.2951	.	125	Q6UWW8	EST3_HUMAN	V	125	ENSP00000304782:L125V;ENSP00000377602:L125V	ENSP00000304782:L125V	L	+	1	2	CES3	65554980	1.000000	0.71417	0.887000	0.34795	0.297000	0.27493	2.976000	0.49289	0.567000	0.29293	-0.192000	0.12808	CTG		0.592	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		5	46	0	0	0	0.000602	0	5	46				
VAC14	55697	broad.mit.edu	37	16	70778352	70778352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:70778352C>A	ENST00000261776.5	-	13	1762	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	501					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCCGGCTCTGCCAGGGGTGGG	0.647																																							uc002ezm.2		NA																	0				pancreas(1)|skin(1)	2						c.(1501-1503)GGC>GTC		Vac14 homolog							40.0	43.0	42.0					16																	70778352		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70778352C>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1502G>T	16.37:g.70778352C>A	ENSP00000261776:p.Gly501Val					VAC14_uc010cfw.2_Missense_Mutation_p.G267V|VAC14_uc002ezn.2_Missense_Mutation_p.G66V|VAC14_uc010cfx.1_5'UTR	p.G501V	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			13	1760	-		Ovarian(137;0.0699)	501					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1502G>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475782	0.26511	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.4	2.27	0.28462	Armadillo-type fold (1);	0.806012	0.11999	N	0.509035	T	0.32346	0.0826	L	0.36672	1.1	0.31222	N	0.697328	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	9	0.39692	T	0.17	-11.1803	2.8104	0.05440	0.1568:0.5389:0.1519:0.1524	.	501	Q08AM6	VAC14_HUMAN	V	501	.	ENSP00000261776:G501V	G	-	2	0	VAC14	69335853	0.026000	0.19158	0.166000	0.22797	0.013000	0.08279	0.099000	0.15210	0.593000	0.29745	-0.314000	0.08810	GGC		0.647	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		7	47	1	0	1.08611e-07	0.000978	1.3951e-07	7	47				
TAF1C	9013	broad.mit.edu	37	16	84212974	84212974	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:84212974C>A	ENST00000567759.1	-	14	2365	c.2183G>T	c.(2182-2184)cGa>cTa	p.R728L	TAF1C_ENST00000570117.1_Missense_Mutation_p.R396L|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702L|TAF1C_ENST00000378541.4_Missense_Mutation_p.R728L|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635L|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	728					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCAGCCCCTCGGCCTGCCCA	0.706																																							uc002fhn.2		NA																	0				ovary(1)	1						c.(2182-2184)CGA>CTA		TBP-associated factor 1C isoform 1							15.0	19.0	18.0					16																	84212974		2192	4282	6474	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84212974C>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2183G>T	16.37:g.84212974C>A	ENSP00000455265:p.Arg728Leu					TAF1C_uc002fhm.2_Missense_Mutation_p.R634L|TAF1C_uc010vnx.1_Missense_Mutation_p.R702L|TAF1C_uc010vny.1_Missense_Mutation_p.R319L|TAF1C_uc010vnz.1_Missense_Mutation_p.R396L|TAF1C_uc002fho.2_Missense_Mutation_p.R251L|TAF1C_uc010voa.1_Missense_Mutation_p.R396L|TAF1C_uc002fhp.1_Intron	p.R728L	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			14	2411	-			728					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2183G>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674779	0.67928	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02656	4.21;4.21;4.21	5.14	-5.06	0.02946	.	1.331180	0.05161	N	0.497818	T	0.03651	0.0104	L	0.44542	1.39	0.18873	N	0.999988	P;P;P;P	0.47841	0.586;0.901;0.785;0.586	B;P;B;B	0.45167	0.272;0.472;0.355;0.272	T	0.38607	-0.9653	10	0.41790	T	0.15	-4.9842	6.7509	0.23487	0.0:0.2731:0.1491:0.5779	.	702;251;728;634	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	728;635;634;251	ENSP00000367802:R728L;ENSP00000437900:R635L;ENSP00000345305:R634L	ENSP00000345305:R634L	R	-	2	0	TAF1C	82770475	0.000000	0.05858	0.010000	0.14722	0.994000	0.84299	-2.777000	0.00775	-0.702000	0.05056	0.561000	0.74099	CGA		0.706	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		15	17	1	0	1.52009e-12	0.003163	2.20838e-12	15	17				
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:7579485C>A	ENST00000269305.4	-	4	391	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E68*	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	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (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.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)	GGAGCAGCCTCTGGCATTCTG	0.607		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)	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		32	Substitution - Nonsense(10)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(7)|p.E68*(4)|p.G59fs*23(3)|p.E68G(2)|p.E68fs*55(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)	lung(7)|breast(5)|liver(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(202-204)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							112.0	119.0	116.0					17																	7579485		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7579485C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.202G>T	17.37:g.7579485C>A	ENSP00000269305:p.Glu68*	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_Nonsense_Mutation_p.E68*|TP53_uc002gih.2_Nonsense_Mutation_p.E68*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E68*|TP53_uc010cni.1_Nonsense_Mutation_p.E68*|TP53_uc002gij.2_Nonsense_Mutation_p.E68*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E29*|TP53_uc010cnk.1_Nonsense_Mutation_p.E83*	p.E68*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	396	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	68		E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.202G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762783	0.49574	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.66	0.49	0.16861	.	1.646800	0.04867	N	0.445250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	0.0106	5.9189	0.19070	0.0:0.6483:0.0:0.3517	.	.	.	.	X	68	.	ENSP00000269305:E68X	E	-	1	0	TP53	7520210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.023000	0.13533	0.156000	0.19299	0.561000	0.74099	GAG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	99	1	0	1.64573e-32	0.00361	2.8526e-32	58	99				
MYH4	4622	broad.mit.edu	37	17	10354208	10354208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:10354208C>A	ENST00000255381.2	-	29	3980	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1290					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCGTGAAAACTCACCTGTGG	0.353																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3868-3870)GAG>GAT		myosin, heavy polypeptide 4, skeletal muscle							130.0	121.0	124.0					17																	10354208		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354208C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3870G>T	17.37:g.10354208C>A	ENSP00000255381:p.Glu1290Asp					uc002gml.1_Intron	p.E1290D	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			29	3981	-			1290			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3870G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660475	0.47572	.	.	ENSG00000141048	ENST00000255381	T	0.77620	-1.11	5.71	-3.01	0.05463	Myosin tail (1);	0.000000	0.37715	U	0.001961	T	0.70185	0.3195	L	0.56769	1.78	0.30473	N	0.773166	B	0.24317	0.101	B	0.30495	0.116	T	0.62364	-0.6870	10	0.30078	T	0.28	.	12.0099	0.53280	0.0:0.3604:0.0:0.6396	.	1290	Q9Y623	MYH4_HUMAN	D	1290	ENSP00000255381:E1290D	ENSP00000255381:E1290D	E	-	3	2	MYH4	10294933	0.004000	0.15560	0.966000	0.40874	0.949000	0.60115	-0.097000	0.11042	-0.445000	0.07159	-0.136000	0.14681	GAG		0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		38	73	1	0	1.59361e-14	0.006999	2.39359e-14	38	73				
MYH1	4619	broad.mit.edu	37	17	10409131	10409131	+	Missense_Mutation	SNP	C	C	A	rs554270125	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:10409131C>A	ENST00000226207.5	-	19	2266	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	724	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTGACCTCTGTTTGAAGT	0.383																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2170-2172)CAG>CAT		myosin, heavy chain 1, skeletal muscle, adult							51.0	49.0	50.0					17																	10409131		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409131C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2172G>T	17.37:g.10409131C>A	ENSP00000226207:p.Gln724His					uc002gml.1_Intron	p.Q724H	NM_005963	NP_005954	P12882	MYH1_HUMAN			19	2266	-			724			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2172G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246881	0.80024	.	.	ENSG00000109061	ENST00000226207	D	0.88124	-2.34	5.47	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.41001	U	0.000972	D	0.87752	0.6256	M	0.72118	2.19	0.58432	D	0.999997	B	0.16166	0.016	B	0.27500	0.08	D	0.85632	0.1271	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:0.8709:0.1291:0.0	.	724	P12882	MYH1_HUMAN	H	724	ENSP00000226207:Q724H	ENSP00000226207:Q724H	Q	-	3	2	MYH1	10349856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.938000	0.28965	1.456000	0.47831	0.650000	0.86243	CAG		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		15	36	1	0	2.4624e-09	0.008871	3.30953e-09	15	36				
DNAH9	1770	broad.mit.edu	37	17	11772454	11772454	+	Missense_Mutation	SNP	C	C	T	rs371926599		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:11772454C>T	ENST00000262442.4	+	51	10005	c.9937C>T	c.(9937-9939)Ctt>Ttt	p.L3313F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3313F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3313	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAAACAGCACCTTAATGAAAA	0.473																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9937-9939)CTT>TTT		dynein, axonemal, heavy chain 9 isoform 2							106.0	102.0	103.0					17																	11772454		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11772454C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9937C>T	17.37:g.11772454C>T	ENSP00000262442:p.Leu3313Phe					DNAH9_uc010coo.2_Missense_Mutation_p.L2607F	p.L3313F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	51	10005	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3313			Stalk (By similarity).|Potential.		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9937C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212611	0.79240	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81499	-1.5;-1.5	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.146825	0.46758	D	0.000271	D	0.93517	0.7931	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95724	0.8769	10	0.72032	D	0.01	.	17.8373	0.88701	0.0:1.0:0.0:0.0	.	3313	Q9NYC9	DYH9_HUMAN	F	3313;3313;1895	ENSP00000262442:L3313F;ENSP00000414874:L3313F	ENSP00000262442:L3313F	L	+	1	0	DNAH9	11713179	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.395000	0.59678	2.510000	0.84645	0.643000	0.83706	CTT		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		23	72	0	0	0	0.003954	0	23	72				
SDF2	6388	broad.mit.edu	37	17	26982498	26982498	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:26982498C>A	ENST00000247020.4	-	2	453	c.155G>T	c.(154-156)aGt>aTt	p.S52I	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	52	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTGCTGCCCACTACCTGCAGT	0.517																																							uc002hbw.2		NA																	0					0						c.(154-156)AGT>ATT		stromal cell-derived factor 2 precursor							141.0	129.0	133.0					17																	26982498		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26982498C>A	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.155G>T	17.37:g.26982498C>A	ENSP00000247020:p.Ser52Ile					SDF2_uc002hbx.2_RNA	p.S52I	NM_006923	NP_008854	Q99470	SDF2_HUMAN			2	194	-	Lung NSC(42;0.00431)		52			MIR 1.		Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.155G>T	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953536	0.92660	.	.	ENSG00000132581	ENST00000247020	D	0.90955	-2.76	5.95	5.95	0.96441	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96990	0.9017	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97341	0.9957	10	0.87932	D	0	-19.7917	19.9958	0.97383	0.0:1.0:0.0:0.0	.	52	Q99470	SDF2_HUMAN	I	52	ENSP00000247020:S52I	ENSP00000247020:S52I	S	-	2	0	SDF2	24006625	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.478000	0.81082	2.825000	0.97269	0.655000	0.94253	AGT		0.517	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		33	115	1	0	3.11337e-16	0.002836	4.80058e-16	33	115				
CORO6	84940	broad.mit.edu	37	17	27944550	27944550	+	Intron	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:27944550T>A	ENST00000445145.2	-	6	755				RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.M241L|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000345068.5_Missense_Mutation_p.M241L			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGCTGGCTCATGCGGGTGAAG	0.697																																							uc002hel.2		NA																	0					0						c.(721-723)ATG>TTG		coronin 6							16.0	20.0	19.0					17																	27944550		1976	4158	6134	SO:0001627	intron_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27944550T>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.754-490A>T	17.37:g.27944550T>A						CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	p.M241L	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			5	723	-			241			WD 4.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.721A>T		.	.	.	.	.	.	.	.	.	.	T	15.29	2.791162	0.50102	.	.	ENSG00000167549	ENST00000345068;ENST00000388767	T	0.58652	0.32	5.22	4.13	0.48395	.	0.129337	0.64402	N	0.000002	T	0.53012	0.1770	L	0.57536	1.79	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.49476	-0.8936	10	0.46703	T	0.11	-8.082	12.271	0.54706	0.0:0.0:0.1421:0.8579	.	241	Q6QEF8-5	.	L	312;241	ENSP00000373419:M241L	ENSP00000344562:M312L	M	-	1	0	CORO6	24968676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.885000	0.87282	0.818000	0.34468	0.368000	0.22195	ATG		0.697	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		10	25	0	0	0	0.008291	0	10	25				
SLC6A4	6532	broad.mit.edu	37	17	28544217	28544217	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:28544217G>A	ENST00000401766.2	-	5	1316	c.804C>T	c.(802-804)ttC>ttT	p.F268F	SLC6A4_ENST00000261707.3_Silent_p.F268F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	268					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TCCAGATGCTGAAGTAGATAA	0.597																																							uc002hey.3		NA																	0				skin(3)|ovary(1)	4						c.(802-804)TTC>TTT		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						82.0	80.0	81.0					17																	28544217		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28544217G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.804C>T	17.37:g.28544217G>A							p.F268F	NM_001045	NP_001036	P31645	SC6A4_HUMAN			6	1348	-			268			Helical; Name=4; (Potential).		Q5EE02	Silent	SNP	ENST00000401766.2	37	c.804C>T	CCDS11256.1																																																																																				0.597	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		29	102	0	0	0	0.00632	0	29	102				
RAB11FIP4	84440	broad.mit.edu	37	17	29854858	29854858	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:29854858A>G	ENST00000325874.8	+	11	1503		c.e11-1		RAB11FIP4_ENST00000394744.2_Splice_Site	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)						cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCCTTTCGCCAGGGTGCAGCA	0.483																																							uc002hgn.1		NA																	0				skin(1)	1						c.e11-2		RAB11 family interacting protein 4 (class II)							42.0	37.0	39.0					17																	29854858		2201	4299	6500	SO:0001630	splice_region_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29854858A>G	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1275-1A>G	17.37:g.29854858A>G						RAB11FIP4_uc002hgo.2_Splice_Site_p.R323_splice	p.R425_splice	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			11	1504	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)						Q52LI1|Q8N829|Q8NDT7|Q969D8	Splice_Site	SNP	ENST00000325874.8	37	c.1275_splice	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243163	0.79912	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.876	0.63653	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB11FIP4	26878978	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	8.982000	0.93471	2.163000	0.67991	0.459000	0.35465	.		0.483	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	Intron	4	11	0	0	0	0.009096	0	4	11				
NLE1	54475	broad.mit.edu	37	17	33469093	33469093	+	Missense_Mutation	SNP	C	C	A	rs367639164		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:33469093C>A	ENST00000442241.4	-	2	106	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.D23Y	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	23					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCGCCCTCATCCTGGAACTGC	0.687																																							uc002hiy.1		NA																	0				breast(3)|ovary(1)	4						c.(67-69)GAT>TAT		Notchless gene homolog isoform a							44.0	34.0	37.0					17																	33469093		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33469093C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.67G>T	17.37:g.33469093C>A	ENSP00000413572:p.Asp23Tyr					NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	p.D23Y	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			2	95	-		Ovarian(249;0.17)	23					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.67G>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620291	0.66787	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.60299	0.2	4.64	4.64	0.57946	NLE (1);	0.047019	0.85682	D	0.000000	T	0.74068	0.3668	M	0.81802	2.56	0.58432	D	0.999999	D	0.57257	0.979	P	0.60541	0.876	T	0.78633	-0.2128	10	0.72032	D	0.01	-11.7354	15.0358	0.71744	0.0:1.0:0.0:0.0	.	23	Q9NVX2	NLE1_HUMAN	Y	23	ENSP00000413572:D23Y	ENSP00000413572:D23Y	D	-	1	0	NLE1	30493206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.397000	0.66302	2.412000	0.81896	0.591000	0.81541	GAT		0.687	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		7	20	1	0	0.00448238	0.004482	0.00474679	7	20				
TAF15	8148	broad.mit.edu	37	17	34171540	34171540	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:34171540G>A	ENST00000588240.1	+	15	1352	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	TAF15_ENST00000311979.3_Missense_Mutation_p.G410R|TAF15_ENST00000592237.1_Missense_Mutation_p.G322R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGCAGAggtggagaccgagg	0.592			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																		uc002hkd.2		NA		Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	TAF15/NR4A3(33)	0				bone(33)|lung(1)|skin(1)	35						c.(1237-1239)GGA>AGA		TBP-associated factor 15 isoform 1							59.0	65.0	63.0					17																	34171540		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171540G>A	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1237G>A	17.37:g.34171540G>A	ENSP00000466950:p.Gly413Arg					TAF15_uc002hkc.2_Missense_Mutation_p.G410R	p.G413R	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1323	+		Ovarian(249;0.17)	413			Arg/Gly-rich.|1.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1237G>A	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866749	0.51588	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.95307	-3.67	5.19	4.19	0.49359	.	.	.	.	.	D	0.85539	0.5720	N	0.02011	-0.69	0.53688	D	0.999971	P;P	0.44044	0.731;0.825	B;B	0.43103	0.231;0.408	D	0.87460	0.2407	9	0.51188	T	0.08	-1.312	11.896	0.52656	0.0:0.1743:0.8257:0.0	.	413;410	Q92804;Q92804-2	RBP56_HUMAN;.	R	413;216	ENSP00000309558:G413R	ENSP00000309558:G413R	G	+	1	0	TAF15	31195653	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.031000	0.41117	2.434000	0.82447	0.591000	0.81541	GGA		0.592	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		39	115	0	0	0	0.004878	0	39	115				
C17orf78	284099	broad.mit.edu	37	17	35745728	35745728	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:35745728C>A	ENST00000300618.4	+	5	682	c.632C>A	c.(631-633)cCt>cAt	p.P211H	ACACA_ENST00000589665.1_Intron|RP11-378E13.3_ENST00000592238.1_RNA|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	211						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GTCCCATGTCCTGTAAGTTTG	0.398																																							uc002hns.2		NA																	0					0						c.(631-633)CCT>CAT		hypothetical protein LOC284099							134.0	126.0	128.0					17																	35745728		1895	4113	6008	SO:0001630	splice_region_variant	284099					integral to membrane		g.chr17:35745728C>A	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.633+1C>A	17.37:g.35745728C>A						ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron	p.P211H	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN			5	682	+		Breast(25;0.00295)|Ovarian(249;0.15)	211					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.632C>A	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341600	0.61073	.	.	ENSG00000167230	ENST00000300618	T	0.50001	0.76	4.96	3.99	0.46301	.	0.127944	0.36167	N	0.002747	T	0.53126	0.1777	L	0.32530	0.975	0.31360	N	0.681497	D	0.76494	0.999	D	0.68483	0.958	T	0.59354	-0.7470	10	0.87932	D	0	-4.3272	9.3099	0.37898	0.0:0.903:0.0:0.097	.	211	Q8N4C9	CQ078_HUMAN	H	211	ENSP00000300618:P211H	ENSP00000300618:P211H	P	+	2	0	C17orf78	32819841	0.875000	0.30112	0.997000	0.53966	0.842000	0.47809	1.865000	0.39479	1.333000	0.45449	0.644000	0.83932	CCT		0.398	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625	Missense_Mutation	8	19	1	0	0.000157383	0.00308	0.000177645	8	19				
KRT38	8687	broad.mit.edu	37	17	39597091	39597091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:39597091A>G	ENST00000246646.3	-	1	82	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	28	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCCAATGTCGATGGGAGAGAC	0.602																																							uc002hwq.1		NA																	0				skin(2)	2						c.(82-84)ATC>ACC		keratin 38							55.0	59.0	57.0					17																	39597091		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39597091A>G	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.83T>C	17.37:g.39597091A>G	ENSP00000246646:p.Ile28Thr						p.I28T	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	506	-		Breast(137;0.000496)	28			Head.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.83T>C	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	A	1.529	-0.544863	0.04024	.	.	ENSG00000171360	ENST00000246646	D	0.81659	-1.52	4.19	-5.84	0.02318	.	1.098270	0.07115	N	0.842887	T	0.58148	0.2102	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45848	-0.9233	10	0.13108	T	0.6	.	7.0495	0.25065	0.3387:0.2497:0.4116:0.0	.	28	O76015	KRT38_HUMAN	T	28	ENSP00000246646:I28T	ENSP00000246646:I28T	I	-	2	0	KRT38	36850617	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.057000	0.03486	-1.233000	0.02551	0.528000	0.53228	ATC		0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		13	65	0	0	0	0.001855	0	13	65				
NKIRAS2	28511	broad.mit.edu	37	17	40174504	40174504	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:40174504A>G	ENST00000307641.5	+	3	803	c.182A>G	c.(181-183)gAc>gGc	p.D61G	NKIRAS2_ENST00000393881.3_Missense_Mutation_p.D61G|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.D61G|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.D59G|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.D61G	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	61	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTTTCTATGACACCCGGGGG	0.562																																							uc002hyq.2		NA																	0				ovary(1)	1						c.(181-183)GAC>GGC		NFKB inhibitor interacting Ras-like 2 isoform a							45.0	42.0	43.0					17																	40174504		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174504A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.182A>G	17.37:g.40174504A>G	ENSP00000303580:p.Asp61Gly					NKIRAS2_uc010wgd.1_Intron|NKIRAS2_uc002hyr.2_Missense_Mutation_p.D61G|NKIRAS2_uc002hys.2_Missense_Mutation_p.D61G|NKIRAS2_uc010wge.1_Intron|NKIRAS2_uc002hyt.2_Missense_Mutation_p.D61G	p.D61G	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			3	247	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	61			GTP (By similarity).|Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.182A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768414	0.90020	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000316082	D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.43	4.34	0.51931	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97642	1.0149	10	0.87932	D	0	-6.6222	12.0575	0.53544	0.8708:0.0:0.0:0.1291	.	61	Q9NYR9	KBRS2_HUMAN	G	61;59;61;61;61;61	ENSP00000303580:D61G;ENSP00000377462:D59G;ENSP00000377458:D61G;ENSP00000377459:D61G;ENSP00000377463:D61G;ENSP00000312773:D61G	ENSP00000303580:D61G	D	+	2	0	NKIRAS2	37428030	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	9.339000	0.96797	0.987000	0.38709	0.477000	0.44152	GAC		0.562	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		5	29	0	0	0	0.000602	0	5	29				
NAGLU	4669	broad.mit.edu	37	17	40690377	40690377	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:40690377G>C	ENST00000225927.2	+	3	653	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	184					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTTGGGCCTGACCCAGGCAG	0.527																																							uc002hzv.2		NA																	0					0						c.(550-552)CTG>CTC		alpha-N-acetylglucosaminidase precursor	N-Acetyl-D-glucosamine(DB00141)						130.0	143.0	139.0					17																	40690377		2203	4300	6503	SO:0001819	synonymous_variant	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690377G>C		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.552G>C	17.37:g.40690377G>C							p.L184L	NM_000263	NP_000254	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	892	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	184						Silent	SNP	ENST00000225927.2	37	c.552G>C	CCDS11427.1																																																																																				0.527	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		16	196	0	0	0	0.004007	0	16	196				
MEOX1	4222	broad.mit.edu	37	17	41738734	41738734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:41738734C>A	ENST00000318579.4	-	1	588	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MEOX1_ENST00000549132.1_Silent_p.R27R|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000329168.3_Missense_Mutation_p.A57S	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	57					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGTACGCTGCCGTCGCTGTC	0.642																																							uc002idz.2		NA																	0					0						c.(169-171)GCA>TCA		mesenchyme homeobox 1 isoform 1							46.0	50.0	49.0					17																	41738734		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738734C>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.169G>T	17.37:g.41738734C>A	ENSP00000321684:p.Ala57Ser					MEOX1_uc002iea.2_Missense_Mutation_p.A57S|MEOX1_uc002ieb.2_5'UTR	p.A57S	NM_004527	NP_004518	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	198	-		Breast(137;0.00908)	57					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.169G>T	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104722	0.20632	.	.	ENSG00000005102	ENST00000318579;ENST00000329168	D;T	0.90676	-2.71;0.63	3.42	3.42	0.39159	.	0.361435	0.29892	N	0.010925	D	0.83464	0.5260	L	0.44542	1.39	0.34864	D	0.742889	P;B	0.46064	0.872;0.007	B;B	0.35114	0.196;0.006	D	0.87358	0.2342	10	0.42905	T	0.14	-10.6973	10.6444	0.45610	0.0:1.0:0.0:0.0	.	57;57	Q15069;P50221	.;MEOX1_HUMAN	S	57	ENSP00000321684:A57S;ENSP00000328678:A57S	ENSP00000321684:A57S	A	-	1	0	MEOX1	39094260	0.010000	0.17322	0.640000	0.29408	0.460000	0.32559	0.011000	0.13264	2.214000	0.71695	0.563000	0.77884	GCA		0.642	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			23	45	1	0	6.21321e-17	0.00278	9.6993e-17	23	45				
CD300LG	146894	broad.mit.edu	37	17	41926217	41926217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:41926217G>A	ENST00000317310.4	+	2	376	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CD300LG_ENST00000588884.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R112Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R112Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000586233.1_Missense_Mutation_p.R112Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	112	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCGAAAAACGGGGCCCCGAT	0.582																																							uc002iem.2		NA																	0					0						c.(334-336)CGG>CAG		CD300 molecule-like family member g precursor							102.0	96.0	98.0					17																	41926217		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41926217G>A	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.335G>A	17.37:g.41926217G>A	ENSP00000321005:p.Arg112Gln					CD300LG_uc002iek.1_Missense_Mutation_p.R112Q|CD300LG_uc002iel.1_Missense_Mutation_p.R112Q|CD300LG_uc010czk.2_Missense_Mutation_p.R112Q|CD300LG_uc010wil.1_Missense_Mutation_p.R112Q|CD300LG_uc010czl.2_Missense_Mutation_p.R112Q	p.R112Q	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	2	376	+		Breast(137;0.0199)	112			Extracellular (Potential).|Ig-like V-type.		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.335G>A	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930928	0.34096	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.89	2.46	0.29980	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.828265	0.09942	N	0.735876	T	0.43478	0.1249	N	0.11756	0.17	0.09310	N	1	P;D;D;B;D;D	0.61697	0.828;0.988;0.988;0.135;0.988;0.99	B;B;B;B;B;P	0.45099	0.076;0.338;0.437;0.014;0.338;0.469	T	0.14643	-1.0465	10	0.16896	T	0.51	.	8.8614	0.35261	0.0:0.0:0.3813:0.6186	.	112;112;112;112;112;112	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	Q	112	ENSP00000321005:R112Q;ENSP00000442368:R112Q;ENSP00000366408:R112Q;ENSP00000293396:R112Q	ENSP00000293396:R112Q	R	+	2	0	CD300LG	39281743	0.453000	0.25721	0.062000	0.19696	0.001000	0.01503	0.472000	0.22116	0.813000	0.34350	-0.266000	0.10368	CGG		0.582	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		17	72	0	0	0	0.006122	0	17	72				
C17orf104	284071	broad.mit.edu	37	17	42745405	42745405	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:42745405T>A	ENST00000409122.2	+	5	2268	c.2126T>A	c.(2125-2127)tTa>tAa	p.L709*	C17orf104_ENST00000359945.3_Nonsense_Mutation_p.L709*|C17orf104_ENST00000409464.1_Nonsense_Mutation_p.L543*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	709										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCTATGACTTACTTTCTTAT	0.368																																							uc010czv.2		NA																	0				central_nervous_system(1)	1						c.(2125-2127)TTA>TAA		hypothetical protein LOC284071							81.0	70.0	74.0					17																	42745405		2203	4300	6503	SO:0001587	stop_gained	284071							g.chr17:42745405T>A		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2126T>A	17.37:g.42745405T>A	ENSP00000386452:p.Leu709*					C17orf104_uc002igy.1_Nonsense_Mutation_p.L543*|C17orf104_uc002igz.3_Nonsense_Mutation_p.L543*|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Nonsense_Mutation_p.L543*	p.L709*	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	2126	+			709					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Nonsense_Mutation	SNP	ENST00000409122.2	37	c.2126T>A	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	T	39	7.504555	0.98325	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	.	.	.	5.76	5.76	0.90799	.	0.276731	0.30771	N	0.008901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8889	10.4207	0.44348	0.0:0.0727:0.0:0.9273	.	.	.	.	X	709;709;543	.	ENSP00000353028:L709X	L	+	2	0	C17orf104	40100931	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.346000	0.52190	2.197000	0.70478	0.482000	0.46254	TTA		0.368	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		8	16	0	0	0	0.006214	0	8	16				
EFTUD2	9343	broad.mit.edu	37	17	42930740	42930740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:42930740C>G	ENST00000426333.2	-	25	2782	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E829Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E819Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E794Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	829					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TAGTAAGGCTCCATCAGACGA	0.587																																					Ovarian(10;65 485 10258 29980 30707)	Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NA																	0				ovary(1)	1						c.(2485-2487)GAG>CAG		elongation factor Tu GTP binding domain							53.0	59.0	57.0					17																	42930740		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42930740C>G	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2485G>C	17.37:g.42930740C>G	ENSP00000392094:p.Glu829Gln					EFTUD2_uc010wje.1_Missense_Mutation_p.E794Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E819Q	p.E829Q	NM_004247	NP_004238	Q15029	U5S1_HUMAN			25	2746	-		Prostate(33;0.109)	829					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2485G>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014665	0.93404	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	D;D	0.87491	-2.26;-2.26	5.15	5.15	0.70609	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.098474	0.64402	D	0.000001	D	0.96466	0.8847	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98300	1.0518	10	0.87932	D	0	-28.3291	18.6064	0.91268	0.0:1.0:0.0:0.0	.	819;829	B4DMC0;Q15029	.;U5S1_HUMAN	Q	829;819;794	ENSP00000392094:E829Q;ENSP00000385873:E794Q	ENSP00000262414:E819Q	E	-	1	0	EFTUD2	40286266	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.390000	0.81377	0.563000	0.77884	GAG		0.587	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		30	96	0	0	0	0.00632	0	30	96				
PLCD3	113026	broad.mit.edu	37	17	43192477	43192477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:43192477G>C	ENST00000322765.5	-	11	1806	c.1693C>G	c.(1693-1695)Ctc>Gtc	p.L565V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	566	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCCCGAATGAGTTTCTTGGCT	0.647																																							uc002iib.2		NA																	0				breast(2)|lung(1)	3						c.(1696-1698)CTC>GTC		phospholipase C delta 3	Phosphatidylserine(DB00144)						26.0	30.0	29.0					17																	43192477		2009	4171	6180	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192477G>C	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1693C>G	17.37:g.43192477G>C	ENSP00000313731:p.Leu565Val						p.L566V	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			11	1810	-			566			PI-PLC Y-box.		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.1696C>G		.	.	.	.	.	.	.	.	.	.	G	12.69	2.013449	0.35511	.	.	ENSG00000161714	ENST00000322765	T	0.68765	-0.35	3.78	-1.82	0.07857	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.149727	0.42548	D	0.000687	T	0.46425	0.1392	.	.	.	0.25101	N	0.990785	P	0.45715	0.865	B	0.37780	0.258	T	0.47935	-0.9078	9	0.72032	D	0.01	.	4.3763	0.11272	0.4387:0.0:0.4095:0.1518	.	566	Q8N3E9	PLCD3_HUMAN	V	565	ENSP00000313731:L565V	ENSP00000313731:L565V	L	-	1	0	PLCD3	40548003	0.955000	0.32602	0.970000	0.41538	0.321000	0.28281	1.588000	0.36633	-0.061000	0.13110	0.462000	0.41574	CTC		0.647	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		2	11	0	0	0	0.004672	0	2	11				
TBX21	30009	broad.mit.edu	37	17	45822141	45822141	+	Silent	SNP	C	C	A	rs371100237		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:45822141C>A	ENST00000177694.1	+	6	1228	c.1017C>A	c.(1015-1017)atC>atA	p.I339I		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	339			I -> V (in dbSNP:rs12721471).		cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCAGCATCCCCTCCCCGC	0.527													C|||	0	0.0	0.0	0.0	5008	,	,		18715	0.0		0.0	False		,,,				2504	0.0						uc002ilv.1		NA																	0					0						c.(1015-1017)ATC>ATA		T-box 21							97.0	99.0	99.0					17																	45822141		2203	4300	6503	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822141C>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1017C>A	17.37:g.45822141C>A							p.I339I	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1228	+			339						Silent	SNP	ENST00000177694.1	37	c.1017C>A	CCDS11514.1																																																																																				0.527	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		37	151	1	0	1.69901e-12	0.005524	2.45884e-12	37	151				
MYCBPAP	84073	broad.mit.edu	37	17	48594812	48594812	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:48594812C>A	ENST00000323776.5	+	3	654	c.492C>A	c.(490-492)tcC>tcA	p.S164S	MYCBPAP_ENST00000436259.2_Splice_Site_p.S127S	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGACTACTCCGGTACACCCA	0.517																																							uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(490-492)TCC>TCA		Myc-binding protein-associated protein							110.0	110.0	110.0					17																	48594812		2203	4300	6503	SO:0001630	splice_region_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48594812C>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.493+1C>A	17.37:g.48594812C>A						MYCBPAP_uc002iqx.2_Silent_p.S164S|MYCBPAP_uc002iqz.2_RNA	p.S164S	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		3	654	+	Breast(11;1.23e-18)		127						Silent	SNP	ENST00000323776.5	37	c.492C>A	CCDS32680.2																																																																																				0.517	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	Silent	44	110	1	0	5.78141e-17	0.003214	9.04395e-17	44	110				
WFIKKN2	124857	broad.mit.edu	37	17	48916967	48916967	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:48916967C>A	ENST00000311378.4	+	2	846	c.318C>A	c.(316-318)ccC>ccA	p.P106P	WFIKKN2_ENST00000426127.1_Silent_p.P13P|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	106					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGGCATGCCCAAGGAGGCCA	0.587																																							uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(316-318)CCC>CCA		WFIKKN2 protein							70.0	68.0	69.0					17																	48916967		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48916967C>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.318C>A	17.37:g.48916967C>A						WFIKKN2_uc010dbu.2_Silent_p.P13P	p.P106P	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1012	+			106					Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.318C>A	CCDS11575.1																																																																																				0.587	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		9	25	1	0	0.000274275	0.004482	0.000303231	9	25				
MPO	4353	broad.mit.edu	37	17	56355306	56355306	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:56355306C>A	ENST00000225275.3	-	7	1262	c.1086G>T	c.(1084-1086)ctG>ctT	p.L362L	MPO_ENST00000340482.3_Silent_p.L394L|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	362					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGACGGCCAGCAGCCCCAGCT	0.642																																							uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1084-1086)CTG>CTT		myeloperoxidase	Cefdinir(DB00535)						64.0	60.0	62.0					17																	56355306		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355306C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1086G>T	17.37:g.56355306C>A							p.L362L	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1263	-			362					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1086G>T	CCDS11604.1																																																																																				0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			8	58	1	0	5.18039e-06	0.00308	6.20988e-06	8	58				
ACE	1636	broad.mit.edu	37	17	61557855	61557855	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:61557855C>A	ENST00000290866.4	+	5	837	c.813C>A	c.(811-813)atC>atA	p.I271I	ACE_ENST00000538928.1_Silent_p.I271I|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.I271I	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	271	Peptidase M2 1.				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)			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)	ACAGATACATCAACCTCAGGG	0.612																																							uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(811-813)ATC>ATA		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)						165.0	146.0	152.0					17																	61557855		2203	4300	6503	SO:0001819	synonymous_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.chr17:61557855C>A	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.813C>A	17.37:g.61557855C>A						ACE_uc010wpi.1_Silent_p.I271I|ACE_uc010ddu.1_Silent_p.I88I	p.I271I	NM_000789	NP_000780	P12821	ACE_HUMAN			5	835	+			271			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.813C>A	CCDS11637.1																																																																																				0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			22	96	1	0	0.000375601	0.00278	0.000414646	22	96				
SCN4A	6329	broad.mit.edu	37	17	62041161	62041161	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:62041161C>A	ENST00000435607.1	-	10	1553	c.1477G>T	c.(1477-1479)Ggt>Tgt	p.G493C	SCN4A_ENST00000578147.1_Missense_Mutation_p.G493C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	493					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCTCCCCACCTTCCAGAGCT	0.617																																							uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1477-1479)GGT>TGT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						26.0	27.0	26.0					17																	62041161		2040	4189	6229	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62041161C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1477G>T	17.37:g.62041161C>A	ENSP00000396320:p.Gly493Cys						p.G493C	NM_000334	NP_000325	P35499	SCN4A_HUMAN			10	1554	-			493					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1477G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555310	0.27739	.	.	ENSG00000007314	ENST00000435607	D	0.96232	-3.95	5.03	0.0997	0.14504	.	1.354960	0.05011	N	0.470965	D	0.94000	0.8078	L	0.36672	1.1	0.23023	N	0.998415	B	0.26512	0.151	B	0.35240	0.198	D	0.86721	0.1942	10	0.56958	D	0.05	.	8.174	0.31270	0.0:0.6023:0.0:0.3977	.	493	P35499	SCN4A_HUMAN	C	493	ENSP00000396320:G493C	ENSP00000396320:G493C	G	-	1	0	SCN4A	59394893	0.234000	0.23783	0.240000	0.24138	0.584000	0.36387	0.644000	0.24766	0.163000	0.19507	0.655000	0.94253	GGT		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	8	1	0	0.000274275	0.004482	0.000303231	8	8				
HELZ	9931	broad.mit.edu	37	17	65103393	65103393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:65103393C>A	ENST00000358691.5	-	31	5299	c.5133G>T	c.(5131-5133)caG>caT	p.Q1711H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1712H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1711						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAAAAGGGTTCTGCGGTGGCC	0.473																																							uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(5134-5136)CAG>CAT		helicase with zinc finger domain							178.0	186.0	183.0					17																	65103393		1975	4158	6133	SO:0001583	missense	9931							g.chr17:65103393C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5133G>T	17.37:g.65103393C>A	ENSP00000351524:p.Gln1711His					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1711H	p.Q1712H	NM_014877	NP_055692					31	5323	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5136G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347331	0.24426	.	.	ENSG00000198265	ENST00000358691	D	0.85088	-1.94	5.31	-2.42	0.06542	.	0.062069	0.64402	D	0.000005	D	0.85075	0.5614	L	0.29908	0.895	0.40828	D	0.983564	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	D	0.83460	0.0053	10	0.72032	D	0.01	-10.1764	12.8014	0.57588	0.0:0.5019:0.0:0.4981	.	1712;1711	B7ZLW2;P42694	.;HELZ_HUMAN	H	1711	ENSP00000351524:Q1711H	ENSP00000351524:Q1711H	Q	-	3	2	HELZ	62533855	0.037000	0.19845	0.990000	0.47175	0.994000	0.84299	-1.198000	0.03035	-0.263000	0.09378	0.579000	0.79373	CAG		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		35	218	1	0	3.90053e-15	0.002445	5.92943e-15	35	218				
SLC16A6	9120	broad.mit.edu	37	17	66267221	66267221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:66267221G>T	ENST00000327268.4	-	6	1244	c.1080C>A	c.(1078-1080)taC>taA	p.Y360*	SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.Y360*|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	360					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)			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)	TGAGCTCAATGTAAATCTTAC	0.433																																							uc002jgz.1		NA																	0					0						c.(1078-1080)TAC>TAA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						101.0	97.0	99.0					17																	66267221		2203	4300	6503	SO:0001587	stop_gained	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267221G>T	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.1080C>A	17.37:g.66267221G>T	ENSP00000319991:p.Tyr360*					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Nonsense_Mutation_p.Y360*	p.Y360*	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1268	-	all_cancers(12;1.24e-09)		360			Helical; (Potential).		Q6P1X3	Nonsense_Mutation	SNP	ENST00000327268.4	37	c.1080C>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731426	0.96856	.	.	ENSG00000108932	ENST00000327268	.	.	.	4.37	2.23	0.28157	.	0.450085	0.22811	N	0.055343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.922	0.41470	0.1973:0.0:0.8027:0.0	.	.	.	.	X	360	.	ENSP00000319991:Y360X	Y	-	3	2	SLC16A6	63778816	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.139000	0.50577	1.046000	0.40249	0.484000	0.47621	TAC		0.433	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		38	104	1	0	6.05902e-23	0.003755	1.0085e-22	38	104				
CDC42EP4	23580	broad.mit.edu	37	17	71282496	71282496	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:71282496C>T	ENST00000335793.3	-	2	538	c.144G>A	c.(142-144)ggG>ggA	p.G48G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.G48G			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	48					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGAGGTGTCCCCAAAGGCGT	0.647																																							uc002jjn.2		NA																	0					0						c.(142-144)GGG>GGA		Cdc42 effector protein 4							41.0	42.0	42.0					17																	71282496		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282496C>T	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.144G>A	17.37:g.71282496C>T						CDC42EP4_uc002jjo.2_Silent_p.G48G|CDC42EP4_uc002jjp.1_Silent_p.G48G	p.G48G	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	291	-			48					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.144G>A	CCDS11695.1																																																																																				0.647	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		7	58	0	0	0	0.001984	0	7	58				
DNAI2	64446	broad.mit.edu	37	17	72308204	72308204	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:72308204G>T	ENST00000311014.6	+	12	1624	c.1557G>T	c.(1555-1557)ctG>ctT	p.L519L	DNAI2_ENST00000582036.1_Silent_p.L507L|DNAI2_ENST00000446837.2_Silent_p.L519L|DNAI2_ENST00000307504.5_Silent_p.L376L|DNAI2_ENST00000579490.1_Silent_p.L576L|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	519					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATGCGGCTGAAGGAGAAGG	0.647									Kartagener syndrome																														uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1555-1557)CTG>CTT		dynein, axonemal, intermediate polypeptide 2							61.0	53.0	56.0					17																	72308204		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308204G>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1557G>T	17.37:g.72308204G>T						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	p.L519L	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			12	1656	+			519					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1557G>T	CCDS11697.1																																																																																				0.647	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	37	1	0	2.56e-06	0.009096	3.08838e-06	4	37				
KIF19	124602	broad.mit.edu	37	17	72341016	72341016	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:72341016G>T	ENST00000389916.4	+	7	837	c.699G>T	c.(697-699)cgG>cgT	p.R233R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCGCAGCCGGGTCAAGAACA	0.692																																							uc002jkm.3		NA																	0					0						c.(697-699)CGG>CGT		kinesin family member 19							29.0	31.0	30.0					17																	72341016		2201	4298	6499	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72341016G>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.699G>T	17.37:g.72341016G>T						KIF19_uc002jkj.2_Silent_p.R233R|KIF19_uc002jkk.2_Silent_p.R191R|KIF19_uc002jkl.2_Silent_p.R191R	p.R233R	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			7	837	+			233			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.699G>T	CCDS32718.2																																																																																				0.692	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		12	34	1	0	2.27111e-07	0.001368	2.87801e-07	12	34				
EVPL	2125	broad.mit.edu	37	17	74003663	74003663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:74003663C>T	ENST00000301607.3	-	22	5876	c.5623G>A	c.(5623-5625)Gag>Aag	p.E1875K	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.E1897K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1875	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GAGTAGCGCTCACGGCTGAGC	0.632																																							uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(5623-5625)GAG>AAG		envoplakin							94.0	90.0	91.0					17																	74003663		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003663C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5623G>A	17.37:g.74003663C>T	ENSP00000301607:p.Glu1875Lys					EVPL_uc010wss.1_Missense_Mutation_p.E1897K|EVPL_uc010wst.1_Missense_Mutation_p.E1345K	p.E1875K	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	5851	-			1875			Globular 2.|Plectin 4.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5623G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507451	0.64410	.	.	ENSG00000167880	ENST00000301607	T	0.75367	-0.93	5.48	5.48	0.80851	.	0.245014	0.40144	N	0.001174	T	0.78842	0.4347	L	0.36672	1.1	0.38016	D	0.93469	D;D	0.56968	0.969;0.978	P;P	0.58077	0.743;0.832	T	0.79650	-0.1715	10	0.40728	T	0.16	-43.6896	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1897;1875	B7ZLH8;Q92817	.;EVPL_HUMAN	K	1875	ENSP00000301607:E1875K	ENSP00000301607:E1875K	E	-	1	0	EVPL	71515258	1.000000	0.71417	0.994000	0.49952	0.712000	0.41017	4.912000	0.63335	2.564000	0.86499	0.561000	0.74099	GAG		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		11	131	0	0	0	0.001368	0	11	131				
BAHCC1	57597	broad.mit.edu	37	17	79408995	79408995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:79408995C>G	ENST00000307745.7	+	9	620	c.620C>G	c.(619-621)tCc>tGc	p.S207C																								GAGGCAGGCTCCCTGCAGAAG	0.711																																							uc002kaf.2		NA																	0				ovary(1)	1						c.(619-621)TCC>TGC		BAH domain and coiled-coil containing 1							26.0	31.0	29.0					17																	79408995		1999	4157	6156	SO:0001583	missense	57597						DNA binding	g.chr17:79408995C>G																												ENST00000307745.7:c.620C>G	17.37:g.79408995C>G	ENSP00000303486:p.Ser207Cys					BAHCC1_uc002kae.2_5'Flank	p.S207C	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	620	+	all_neural(118;0.0804)|Melanoma(429;0.242)		207						Missense_Mutation	SNP	ENST00000307745.7	37	c.620C>G		.	.	.	.	.	.	.	.	.	.	c	6.046	0.376860	0.11466	.	.	ENSG00000171282	ENST00000307745	T	0.12984	2.63	3.73	1.46	0.22682	.	.	.	.	.	T	0.10551	0.0258	N	0.22421	0.69	0.09310	N	1	B	0.25955	0.138	B	0.28305	0.088	T	0.31503	-0.9941	9	0.49607	T	0.09	.	11.2837	0.49210	0.5068:0.4932:0.0:0.0	.	207	Q9P281	BAHC1_HUMAN	C	207	ENSP00000303486:S207C	ENSP00000303486:S207C	S	+	2	0	AC110285.1	77023590	0.000000	0.05858	0.010000	0.14722	0.615000	0.37417	0.591000	0.23969	0.878000	0.35920	0.298000	0.19748	TCC		0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				5	64	0	0	0	0.000602	0	5	64				
EMILIN2	84034	broad.mit.edu	37	18	2891640	2891640	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:2891640C>A	ENST00000254528.3	+	4	1674	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	505					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAGCGTTCTCCTACAGATGA	0.547																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1513-1515)CTC>CTA		elastin microfibril interfacer 2 precursor							67.0	71.0	70.0					18																	2891640		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891640C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1515C>A	18.37:g.2891640C>A							p.L505L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1674	+			505					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.1515C>A	CCDS11828.1																																																																																				0.547	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		10	77	1	0	4.68919e-08	0.008291	6.11704e-08	10	77				
DLGAP1	9229	broad.mit.edu	37	18	3879681	3879681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:3879681G>T	ENST00000315677.3	-	4	983	c.388C>A	c.(388-390)Cac>Aac	p.H130N	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H130N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.H130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H130N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	130					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGCTGCGGTGCTCCACGGCC	0.677																																							uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(388-390)CAC>AAC		discs large homolog-associated protein 1 isoform							59.0	67.0	64.0					18																	3879681		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879681G>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.388C>A	18.37:g.3879681G>T	ENSP00000316377:p.His130Asn					DLGAP1_uc010wyz.1_Missense_Mutation_p.H130N|DLGAP1_uc002kmk.2_Missense_Mutation_p.H130N|uc002kml.1_Intron	p.H130N	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	455	-		Colorectal(8;0.0257)	130					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.388C>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811788	0.70797	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.16743	2.32;2.32	5.53	5.53	0.82687	.	0.105722	0.64402	D	0.000003	T	0.23965	0.0580	L	0.40543	1.245	0.46356	D	0.999008	D;P;P	0.53619	0.961;0.952;0.651	P;P;B	0.48270	0.572;0.517;0.104	T	0.00357	-1.1792	10	0.45353	T	0.12	-22.3029	19.4529	0.94875	0.0:0.0:1.0:0.0	.	130;130;130	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	N	130	ENSP00000316377:H130N;ENSP00000445973:H130N	ENSP00000316377:H130N	H	-	1	0	DLGAP1	3869681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.941000	0.87700	2.595000	0.87683	0.655000	0.94253	CAC		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			31	90	1	0	3.99451e-17	0.009535	6.28781e-17	31	90				
LAMA1	284217	broad.mit.edu	37	18	6978258	6978258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:6978258G>T	ENST00000389658.3	-	43	6220	c.6127C>A	c.(6127-6129)Ctg>Atg	p.L2043M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2043	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCCTGGACAGGCTGGCAGAT	0.597																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6127-6129)CTG>ATG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201.0	172.0	182.0					18																	6978258		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6978258G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6127C>A	18.37:g.6978258G>T	ENSP00000374309:p.Leu2043Met					LAMA1_uc010wzj.1_Missense_Mutation_p.L1519M	p.L2043M	NM_005559	NP_005550	P25391	LAMA1_HUMAN			43	6221	-		Colorectal(10;0.172)	2043			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6127C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834992	0.32421	.	.	ENSG00000101680	ENST00000389658	T	0.53206	0.63	5.64	1.24	0.21308	Laminin II (1);	0.090334	0.46758	D	0.000269	T	0.61438	0.2347	M	0.75447	2.3	0.30071	N	0.81001	D	0.89917	1.0	D	0.77557	0.99	T	0.58053	-0.7704	10	0.56958	D	0.05	.	6.8457	0.23987	0.5834:0.0:0.4166:0.0	.	2043	P25391	LAMA1_HUMAN	M	2043	ENSP00000374309:L2043M	ENSP00000374309:L2043M	L	-	1	2	LAMA1	6968258	0.990000	0.36364	0.083000	0.20561	0.060000	0.15804	1.311000	0.33562	0.403000	0.25479	0.650000	0.86243	CTG		0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		14	108	1	0	9.31168e-06	0.001855	1.11092e-05	14	108				
LDLRAD4	753	broad.mit.edu	37	18	13645348	13645348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:13645348G>T	ENST00000359446.5	+	6	1081	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.V168L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.V128L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.V107L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.V187L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.V150L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.V205L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	205					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCGAGAGTCCGTGAGGGCCCC	0.582																																							uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(613-615)GTG>TTG		hypothetical protein LOC753 isoform alpha 1							77.0	84.0	82.0					18																	13645348		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645348G>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.613G>T	18.37:g.13645348G>T	ENSP00000352420:p.Val205Leu					C18orf1_uc002ksb.2_Missense_Mutation_p.V187L|C18orf1_uc002kse.2_Missense_Mutation_p.V168L|C18orf1_uc002ksf.2_Missense_Mutation_p.V150L|C18orf1_uc002ksg.1_Missense_Mutation_p.V128L|C18orf1_uc002ksh.1_Missense_Mutation_p.V147L|C18orf1_uc002ksi.1_Missense_Mutation_p.V129L	p.V205L	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1281	+			205			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.613G>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014773	0.93404	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.39056	1.18;1.1	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.87578	0.995;0.997;0.995;0.997;0.998;0.994	T	0.74680	-0.3584	10	0.87932	D	0	-2.2563	18.6588	0.91465	0.0:0.0:1.0:0.0	.	129;147;150;168;187;205	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	205;187;168;150;147;129	ENSP00000354753:V205L;ENSP00000382741:V187L	ENSP00000352420:V168L	V	+	1	0	C18orf1	13635348	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	9.480000	0.97931	2.419000	0.82065	0.655000	0.94253	GTG		0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		11	81	1	0	6.40141e-05	0.000978	7.38022e-05	11	81				
HRH4	59340	broad.mit.edu	37	18	22056937	22056937	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:22056937T>C	ENST00000256906.4	+	3	684	c.584T>C	c.(583-585)aTg>aCg	p.M195T	HRH4_ENST00000426880.2_Missense_Mutation_p.M107T	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	195					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TATTTCAACATGAATATTTAT	0.438																																							uc002kvi.2		NA																	0				ovary(2)	2						c.(583-585)ATG>ACG		histamine H4 receptor isoform 1	Clozapine(DB00363)						170.0	163.0	165.0					18																	22056937		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22056937T>C	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.584T>C	18.37:g.22056937T>C	ENSP00000256906:p.Met195Thr					HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.M107T	p.M195T	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			3	684	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		195			Cytoplasmic (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.584T>C	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635444	0.29068	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.71103	-0.54;-0.54	5.66	0.673	0.17941	GPCR, rhodopsin-like superfamily (1);	1.186500	0.05858	N	0.622395	T	0.56688	0.2002	L	0.40543	1.245	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.15870	0.014;0.003	T	0.39761	-0.9598	10	0.25106	T	0.35	-0.298	2.7506	0.05280	0.1201:0.1439:0.1242:0.6118	.	107;195	B2KJ48;Q9H3N8	.;HRH4_HUMAN	T	195;107	ENSP00000256906:M195T;ENSP00000402526:M107T	ENSP00000256906:M195T	M	+	2	0	HRH4	20310935	0.006000	0.16342	0.296000	0.24974	0.841000	0.47740	1.570000	0.36439	0.991000	0.38814	0.459000	0.35465	ATG		0.438	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			34	139	0	0	0	0.003271	0	34	139				
CDH2	1000	broad.mit.edu	37	18	25591899	25591900	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:25591899_25591900GG>AT	ENST00000269141.3	-	4	879_880	c.456_457CC>AT	c.(454-459)ggCCac>ggATac	p.H153Y	CDH2_ENST00000399380.3_Missense_Mutation_p.H122Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	153					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)			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						CTTTGTAGGTGGCCACTGTGCT	0.45																																							uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(454-459)GGCCAC>GGATAC		cadherin 2, type 1 preproprotein																																				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.chr18:25591899_25591900GG>AT	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.456_457delinsAT	18.37:g.25591899_25591900delinsAT	ENSP00000269141:p.His153Tyr					CDH2_uc010xbn.1_Missense_Mutation_p.H122Y	p.H153Y	NM_001792	NP_001783	P19022	CADH2_HUMAN			4	915_916	-			153					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	DNP	ENST00000269141.3	37	c.456_457CC>AT	CCDS11891.1																																																																																				0.450	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		11	102	0	0	0	0.004672	0	11	102				
DSC2	1824	broad.mit.edu	37	18	28648052	28648052	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:28648052C>G	ENST00000280904.6	-	16	3078	c.2635G>C	c.(2635-2637)Gat>Cat	p.D879H	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	879					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAAGCCCATCTTCTTCTTGT	0.428																																							uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(2635-2637)GAT>CAT		desmocollin 2 isoform Dsc2a preproprotein							102.0	87.0	92.0					18																	28648052		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28648052C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2635G>C	18.37:g.28648052C>G	ENSP00000280904:p.Asp879His					DSC2_uc002kwk.3_3'UTR	p.D879H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		16	3089	-			879			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000280904.6	37	c.2635G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224741	0.79576	.	.	ENSG00000134755	ENST00000280904;ENST00000438199;ENST00000399347	T	0.77098	-1.07	5.87	5.87	0.94306	Cadherin, cytoplasmic domain (1);	0.000000	0.33438	N	0.004903	D	0.87708	0.6245	M	0.67953	2.075	0.49915	D	0.999837	D	0.69078	0.997	D	0.70935	0.971	D	0.87302	0.2306	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	879	Q02487	DSC2_HUMAN	H	879;645;892	ENSP00000280904:D879H	ENSP00000280904:D879H	D	-	1	0	DSC2	26902050	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.677000	0.61634	2.941000	0.99782	0.655000	0.94253	GAT		0.428	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		9	65	0	0	0	0.006214	0	9	65				
DSG3	1830	broad.mit.edu	37	18	29049188	29049188	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:29049188C>T	ENST00000257189.4	+	12	1856	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	591					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGTGACAACAGGGGCATCT	0.582																																							uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1771-1773)AAC>AAT		desmoglein 3 preproprotein							117.0	105.0	109.0					18																	29049188		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049188C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1773C>T	18.37:g.29049188C>T							p.N591N	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1882	+			591			Extracellular (Potential).		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1773C>T	CCDS11898.1																																																																																				0.582	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		19	92	0	0	0	0.008871	0	19	92				
KLHL14	57565	broad.mit.edu	37	18	30349625	30349625	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:30349625C>A	ENST00000359358.4	-	2	1368	c.930G>T	c.(928-930)agG>agT	p.R310S	AC012123.1_ENST00000426194.1_5'Flank|KLHL14_ENST00000358095.4_Missense_Mutation_p.R310S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	310						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGCTCTGCCTGCAGTGCT	0.657																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(928-930)AGG>AGT		kelch-like 14							39.0	41.0	40.0					18																	30349625		2195	4288	6483	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349625C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.930G>T	18.37:g.30349625C>A	ENSP00000352314:p.Arg310Ser						p.R310S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	1318	-			310					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.930G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815470	0.16607	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76316	-0.77;-1.01	5.03	4.09	0.47781	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	L	0.29908	0.895	0.48395	D	0.999642	B	0.12013	0.005	B	0.12156	0.007	T	0.65804	-0.6079	10	0.48119	T	0.1	.	13.9877	0.64345	0.0:0.8476:0.1524:0.0	.	310	Q9P2G3	KLH14_HUMAN	S	310	ENSP00000352314:R310S;ENSP00000350808:R310S	ENSP00000350808:R310S	R	-	3	2	KLHL14	28603623	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	1.806000	0.38892	2.348000	0.79779	0.552000	0.68991	AGG		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			8	49	1	0	0.00448238	0.004482	0.00474679	8	49				
EPG5	57724	broad.mit.edu	37	18	43531136	43531136	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:43531136T>G	ENST00000282041.5	-	4	1355	c.1321A>C	c.(1321-1323)Atg>Ctg	p.M441L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	441					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGTGAACATGAATAAGACA	0.383																																							uc002lbm.2		NA																	0					0						c.(1321-1323)ATG>CTG		hypothetical protein LOC57724							115.0	104.0	107.0					18																	43531136		1877	4114	5991	SO:0001583	missense	57724				autophagy			g.chr18:43531136T>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1321A>C	18.37:g.43531136T>G	ENSP00000282041:p.Met441Leu					KIAA1632_uc002lbo.1_Missense_Mutation_p.M441L	p.M441L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			4	1421	-			441					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1321A>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.377027	0.24857	.	.	ENSG00000152223	ENST00000282041	T	0.79141	-1.24	5.33	5.33	0.75918	.	0.912854	0.09501	N	0.793678	T	0.72938	0.3523	L	0.40543	1.245	0.32508	N	0.537995	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.003	T	0.67837	-0.5567	10	0.28530	T	0.3	-6.2767	15.5832	0.76462	0.0:0.0:0.0:1.0	.	441;441	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	441	ENSP00000282041:M441L	ENSP00000282041:M441L	M	-	1	0	EPG5	41785134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.756000	0.55205	2.141000	0.66446	0.459000	0.35465	ATG		0.383	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		4	28	0	0	0	0.009096	0	4	28				
ALPK2	115701	broad.mit.edu	37	18	56246487	56246487	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:56246487C>A	ENST00000361673.3	-	4	1734	c.1521G>T	c.(1519-1521)ggG>ggT	p.G507G	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	507						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGGCTCATCCCTGAGTTTT	0.512											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1519-1521)GGG>GGT		heart alpha-kinase							185.0	186.0	186.0					18																	56246487		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246487C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1521G>T	18.37:g.56246487C>A			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.G507G	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1735	-			507					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1521G>T	CCDS11966.2																																																																																				0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		24	152	1	0	5.49717e-05	0.00333	6.36692e-05	24	152				
ZNF532	55205	broad.mit.edu	37	18	56606832	56606832	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:56606832G>T	ENST00000336078.4	+	6	3460	c.2684G>T	c.(2683-2685)gGc>gTc	p.G895V	ZNF532_ENST00000591808.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591083.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G895V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G895V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGCATCCTGGCATCAAGATA	0.428																																							uc002lho.2		NA																	0				breast(1)|skin(1)	2						c.(2683-2685)GGC>GTC		zinc finger protein 532							99.0	84.0	89.0					18																	56606832		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56606832G>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2684G>T	18.37:g.56606832G>T	ENSP00000338217:p.Gly895Val					ZNF532_uc002lhp.2_Missense_Mutation_p.G893V|ZNF532_uc010xeg.1_Missense_Mutation_p.G893V|ZNF532_uc002lhr.2_Missense_Mutation_p.G893V|ZNF532_uc002lhs.2_Missense_Mutation_p.G893V	p.G895V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			6	3231	+			895					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.2684G>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.347532	0.82022	.	.	ENSG00000074657	ENST00000336078	T	0.01963	4.53	5.43	5.43	0.79202	Zinc finger, C2H2 (1);	0.051320	0.85682	D	0.000000	T	0.15435	0.0372	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.08764	-1.0706	10	0.27785	T	0.31	-8.4463	18.8737	0.92327	0.0:0.0:1.0:0.0	.	895	Q9HCE3	ZN532_HUMAN	V	895	ENSP00000338217:G895V	ENSP00000338217:G895V	G	+	2	0	ZNF532	54757812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.563000	0.67352	2.579000	0.87056	0.645000	0.84053	GGC		0.428	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		19	77	1	0	1.96292e-10	0.010504	2.72568e-10	19	77				
SERPINB13	5275	broad.mit.edu	37	18	61264493	61264493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:61264493G>T	ENST00000344731.5	+	8	1174	c.1072G>T	c.(1072-1074)Gcc>Tcc	p.A358S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					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.A358T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTCACATCCGCCCCAGGTCA	0.512																																							uc002ljc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)GCC>TCC		serine (or cysteine) proteinase inhibitor, clade							84.0	70.0	75.0					18																	61264493		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264493G>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.1072G>T	18.37:g.61264493G>T	ENSP00000341584:p.Ala358Ser					SERPINB13_uc002ljd.2_Missense_Mutation_p.A222S|SERPINB13_uc010xep.1_Missense_Mutation_p.A367S|SERPINB13_uc010xeq.1_Missense_Mutation_p.A179S|SERPINB13_uc010xer.1_Missense_Mutation_p.A179S	p.A358S	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			8	1240	+			358					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.1072G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838881	0.16891	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83837	-1.77;-1.77	5.3	3.3	0.37823	Serpin domain (3);	.	.	.	.	T	0.78868	0.4351	L	0.38531	1.155	0.09310	N	1	B;P;P	0.52842	0.389;0.951;0.956	B;P;P	0.52598	0.233;0.703;0.64	T	0.65327	-0.6195	9	0.13853	T	0.58	.	7.7208	0.28731	0.085:0.0:0.5593:0.3556	.	367;276;358	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	S	306;276;358	ENSP00000269489:A306S;ENSP00000341584:A358S	ENSP00000269489:A306S	A	+	1	0	SERPINB13	59415473	0.251000	0.23961	0.001000	0.08648	0.014000	0.08584	2.947000	0.49058	1.243000	0.43853	0.557000	0.71058	GCC		0.512	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		10	70	1	0	1.58986e-06	0.008291	1.92726e-06	10	70				
ZNF236	7776	broad.mit.edu	37	18	74680239	74680239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:74680239G>T	ENST00000253159.8	+	31	5680	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1830*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1828					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)			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)		CCTCCACCTGGAGGAGGTGGT	0.587																																							uc002lmi.2		NA																	0				ovary(4)	4						c.(5482-5484)GAG>TAG		zinc finger protein 236							71.0	83.0	79.0					18																	74680239		2003	4183	6186	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74680239G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5482G>T	18.37:g.74680239G>T	ENSP00000253159:p.Glu1828*					ZNF236_uc002lmj.2_RNA	p.E1828*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	31	5680	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1828					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.5482G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	45	11.495336	0.99568	.	.	ENSG00000130856	ENST00000253159	.	.	.	5.06	4.19	0.49359	.	0.100995	0.42821	D	0.000646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	13.7473	0.62883	0.0748:0.0:0.9252:0.0	.	.	.	.	X	1828	.	ENSP00000253159:E1828X	E	+	1	0	ZNF236	72809227	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	6.739000	0.74827	1.274000	0.44362	0.557000	0.71058	GAG		0.587	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			16	78	1	0	1.15088e-07	0.004007	1.47328e-07	16	78				
SHC2	25759	broad.mit.edu	37	19	419036	419036	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:419036C>G	ENST00000264554.6	-	12	1640	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	547	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCTCTCAAACAGCACGTCCT	0.652																																							uc002loq.3		NA																	0					0						c.(1639-1641)CTG>CTC		SHC (Src homology 2 domain containing)							25.0	29.0	28.0					19																	419036		2110	4218	6328	SO:0001819	synonymous_variant	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:419036C>G	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1641G>C	19.37:g.419036C>G						SHC2_uc002lop.3_Silent_p.L288L	p.L547L	NM_012435	NP_036567	P98077	SHC2_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)	12	1641	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	547			SH2.		O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	c.1641G>C	CCDS45891.1																																																																																				0.652	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			4	3	0	0	0	0.009096	0	4	3				
MATK	4145	broad.mit.edu	37	19	3779573	3779573	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:3779573G>A	ENST00000310132.6	-	10	1283	c.885C>T	c.(883-885)atC>atT	p.I295I	MATK_ENST00000395040.2_Silent_p.I254I|MATK_ENST00000395045.2_Silent_p.I296I|MATK_ENST00000585778.1_Silent_p.I295I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTGCAGGATCACGCCCA	0.711																																							uc002lyt.2		NA																	0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(883-885)ATC>ATT		megakaryocyte-associated tyrosine kinase isoform							23.0	22.0	23.0					19																	3779573		2200	4297	6497	SO:0001819	synonymous_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779573G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.885C>T	19.37:g.3779573G>A						MATK_uc002lyv.2_Silent_p.I296I|MATK_uc002lyu.2_Silent_p.I254I|MATK_uc010dtq.2_Silent_p.I295I	p.I295I	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1285	-		Hepatocellular(1079;0.137)	295			Protein kinase.		B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	c.885C>T	CCDS12114.1																																																																																				0.711	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		7	11	0	0	0	0.001984	0	7	11				
TICAM1	148022	broad.mit.edu	37	19	4817343	4817343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:4817343G>C	ENST00000248244.5	-	2	1276	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	349	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGTAGGTGGGCACGGCTTGG	0.557																																							uc002mbi.2		NA																	0				breast(1)	1						c.(1045-1047)TGC>TGG		toll-like receptor adaptor molecule 1							55.0	58.0	57.0					19																	4817343		2202	4299	6501	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817343G>C	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1047C>G	19.37:g.4817343G>C	ENSP00000248244:p.Cys349Trp						p.C349W	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1298	-			349			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1047C>G	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574313	0.45902	.	.	ENSG00000127666	ENST00000248244	T	0.43294	0.95	4.51	2.21	0.28008	.	1.278410	0.05776	N	0.607672	T	0.34454	0.0898	L	0.36672	1.1	0.26941	N	0.966257	P	0.44006	0.824	B	0.39339	0.297	T	0.24657	-1.0154	10	0.37606	T	0.19	-1.0983	8.643	0.33989	0.0:0.167:0.6599:0.1732	.	349	Q8IUC6	TCAM1_HUMAN	W	349	ENSP00000248244:C349W	ENSP00000248244:C349W	C	-	3	2	TICAM1	4768343	0.000000	0.05858	0.094000	0.20943	0.079000	0.17450	0.415000	0.21181	0.387000	0.25024	0.313000	0.20887	TGC		0.557	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		21	40	0	0	0	0.002299	0	21	40				
MCEMP1	199675	broad.mit.edu	37	19	7742570	7742570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:7742570C>T	ENST00000333598.3	+	2	596	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	C19orf59_ENST00000597445.1_Intron|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		48						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CTTCAAAAATCAGGACCATGC	0.577											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002mhh.1		NA																	0				skin(1)	1						c.(142-144)CAG>TAG		mast cell-expressed membrane protein 1							92.0	74.0	80.0					19																	7742570		2203	4300	6503	SO:0001587	stop_gained	199675					integral to membrane		g.chr19:7742570C>T																												ENST00000333598.3:c.142C>T	19.37:g.7742570C>T	ENSP00000329920:p.Gln48*		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644		p.Q48*	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN			2	167	+			48			Cytoplasmic (Potential).		Q8IX20	Nonsense_Mutation	SNP	ENST00000333598.3	37	c.142C>T	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176027	0.57692	.	.	ENSG00000183019	ENST00000333598	.	.	.	4.21	1.98	0.26296	.	1.074330	0.07358	N	0.883492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.2979	5.1936	0.15223	0.2128:0.6743:0.0:0.113	.	.	.	.	X	48	.	ENSP00000329920:Q48X	Q	+	1	0	C19orf59	7648570	0.003000	0.15002	0.039000	0.18376	0.141000	0.21300	0.614000	0.24314	0.435000	0.26365	0.561000	0.74099	CAG		0.577	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			20	54	0	0	0	0.00278	0	20	54				
MUC16	94025	broad.mit.edu	37	19	9046547	9046547	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9046547G>T	ENST00000397910.4	-	5	35287	c.35084C>A	c.(35083-35085)cCa>cAa	p.P11695Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11697	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)				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						GCTGGTCTGTGGAGGATGAGT	0.522																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35083-35085)CCA>CAA		mucin 16							116.0	114.0	115.0					19																	9046547		2009	4173	6182	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046547G>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.35084C>A	19.37:g.9046547G>T	ENSP00000381008:p.Pro11695Gln						p.P11695Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35288	-			11697			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35084C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.620	0.482846	0.12581	.	.	ENSG00000181143	ENST00000397910	T	0.02103	4.45	3.24	-2.16	0.07080	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.19817	0.039	B	0.20955	0.032	T	0.41448	-0.9508	8	0.87932	D	0	.	7.1722	0.25724	0.0:0.1506:0.3665:0.4829	.	11695	B5ME49	.	Q	11695	ENSP00000381008:P11695Q	ENSP00000381008:P11695Q	P	-	2	0	MUC16	8907547	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.265000	0.02844	-0.269000	0.09298	0.506000	0.49869	CCA		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	75	1	0	5.44703e-19	0.009718	8.7014e-19	45	75				
MUC16	94025	broad.mit.edu	37	19	9086904	9086904	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9086904C>T	ENST00000397910.4	-	1	5114	c.4911G>A	c.(4909-4911)ggG>ggA	p.G1637G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1637	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)				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						TACTACTGCTCCCTGTTGTTG	0.498																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4909-4911)GGG>GGA		mucin 16							204.0	197.0	199.0					19																	9086904		2033	4191	6224	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086904C>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.4911G>A	19.37:g.9086904C>T							p.G1637G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5115	-			1637			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4911G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		46	88	0	0	0	0.00361	0	46	88				
CACNA1A	773	broad.mit.edu	37	19	13386728	13386728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:13386728G>T	ENST00000360228.5	-	24	3924	c.3925C>A	c.(3925-3927)Cgt>Agt	p.R1309S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1310S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1310					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAGGTCACGGAAGTAGGCA	0.572																																							uc010dze.2		NA																	0				large_intestine(2)	2						c.(3928-3930)CGT>AGT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						72.0	74.0	73.0					19																	13386728		1967	4138	6105	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13386728G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3925C>A	19.37:g.13386728G>T	ENSP00000353362:p.Arg1309Ser					CACNA1A_uc010xnd.1_Missense_Mutation_p.R15S|CACNA1A_uc002mwx.3_Missense_Mutation_p.R15S|CACNA1A_uc010dzc.2_Missense_Mutation_p.R835S|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1309S|CACNA1A_uc010xne.1_Missense_Mutation_p.R838S	p.R1310S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		24	4164	-			1310			III.|Helical; Name=S3 of repeat III; (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.3928C>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670529	0.67814	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98822	-5.16	4.57	4.57	0.56435	Ion transport (1);	0.076034	0.53938	D	0.000051	D	0.98988	0.9655	M	0.77406	2.37	0.80722	D	1	D;P;D	0.89917	1.0;0.805;1.0	D;P;D	0.87578	0.998;0.735;0.998	D	0.99521	1.0958	9	.	.	.	.	16.122	0.81365	0.0:0.0:1.0:0.0	.	1310;1313;1309	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	S	1309;1313;1310;1310	ENSP00000353362:R1309S	.	R	-	1	0	CACNA1A	13247728	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.080000	0.71299	2.089000	0.63090	0.591000	0.81541	CGT		0.572	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		12	21	1	0	1.05317e-09	0.00245	1.42566e-09	12	21				
ZNF724P	440519	broad.mit.edu	37	19	23405513	23405513	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:23405513C>A	ENST00000418100.1	-	4	1651	c.1534G>T	c.(1534-1536)Ggc>Tgc	p.G512C				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AAAGCTTTGCCACATTCTTTA	0.373																																							uc010xri.1		NA																	0					NA						c.(1534-1536)GGC>TGC		SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43;																																				SO:0001583	missense	0							g.chr19:23405513C>A			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1534G>T	19.37:g.23405513C>A	ENSP00000413411:p.Gly512Cys						p.G512C							4	1652	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1534G>T		.	.	.	.	.	.	.	.	.	.	C	11.89	1.773278	0.31411	.	.	ENSG00000196081	ENST00000418100	T	0.07800	3.16	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23766	0.0575	.	.	.	0.32698	N	0.513212	D	0.89917	1.0	D	0.91635	0.999	T	0.24261	-1.0165	8	0.87932	D	0	.	8.9688	0.35894	0.0:1.0:0.0:0.0	.	512	A8MTY0	ZN724_HUMAN	C	512	ENSP00000413411:G512C	ENSP00000413411:G512C	G	-	1	0	ZNF724P	23197353	0.954000	0.32549	0.860000	0.33809	0.851000	0.48451	1.965000	0.40471	0.482000	0.27582	0.484000	0.47621	GGC		0.373	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			17	28	1	0	1.99824e-07	0.00499	2.54076e-07	17	28				
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																							uc002nrn.2		NA																	12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		4	46	0	0	0	0.009096	0	4	46				
CHST8	64377	broad.mit.edu	37	19	34180198	34180198	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:34180198G>A	ENST00000262622.4	+	2	789	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Missense_Mutation_p.A11T|CHST8_ENST00000434302.1_Missense_Mutation_p.A11T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	11					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AATGCGGCTGGCCTGCATGTT	0.652																																							uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(31-33)GCC>ACC		carbohydrate (N-acetylgalactosamine 4-0)							101.0	93.0	96.0					19																	34180198		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180198G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.31G>A	19.37:g.34180198G>A	ENSP00000262622:p.Ala11Thr					CHST8_uc002nut.3_Missense_Mutation_p.A11T|CHST8_uc002nuu.2_Missense_Mutation_p.A11T	p.A11T	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			3	536	+	Esophageal squamous(110;0.162)		11			Helical; Signal-anchor for type II membrane protein; (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.31G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489249	0.44249	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73469	-0.75;-0.75;-0.75	5.39	3.28	0.37604	.	0.153294	0.30911	N	0.008638	T	0.50240	0.1604	N	0.14661	0.345	0.29176	N	0.876821	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	10	0.15952	T	0.53	-15.5583	5.4638	0.16632	0.3591:0.0:0.6409:0.0	.	11	Q9H2A9	CHST8_HUMAN	T	11	ENSP00000392604:A11T;ENSP00000393879:A11T;ENSP00000262622:A11T	ENSP00000262622:A11T	A	+	1	0	CHST8	38872038	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.012000	0.29924	1.260000	0.44134	0.591000	0.81541	GCC		0.652	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		24	77	0	0	0	0.00278	0	24	77				
NPHS1	4868	broad.mit.edu	37	19	36321981	36321981	+	Missense_Mutation	SNP	G	G	A	rs143145248		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:36321981G>A	ENST00000378910.5	-	27	3454	c.3455C>T	c.(3454-3456)aCg>aTg	p.T1152M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T1112M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1152					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCTGCGTCGGGGGCAG	0.587																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(3454-3456)ACG>ATG		nephrin precursor		G	MET/THR	0,4406		0,0,2203	78.0	78.0	78.0		3455	0.4	0.0	19	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NPHS1	NM_004646.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1152/1242	36321981	2,13004	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36321981G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3455C>T	19.37:g.36321981G>A	ENSP00000368190:p.Thr1152Met					NPHS1_uc010eem.1_RNA	p.T1152M	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		27	3455	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1152			Cytoplasmic (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3455C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994767	0.35226	0.0	2.33E-4	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75704	-0.88;-0.96	4.92	0.422	0.16457	.	0.531710	0.18788	N	0.131135	T	0.72614	0.3482	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.64410	0.925	T	0.62324	-0.6878	10	0.59425	D	0.04	-1.5772	7.0308	0.24967	0.369:0.0:0.631:0.0	.	1152	O60500	NPHN_HUMAN	M	1152;1112	ENSP00000368190:T1152M;ENSP00000343634:T1112M	ENSP00000343634:T1112M	T	-	2	0	NPHS1	41013821	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-0.109000	0.10840	0.052000	0.16007	-0.274000	0.10170	ACG		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			47	87	0	0	0	0.00361	0	47	87				
ZNF585A	199704	broad.mit.edu	37	19	37644259	37644259	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:37644259A>G	ENST00000356958.4	-	5	800	c.542T>C	c.(541-543)aTg>aCg	p.M181T	ZNF585A_ENST00000292841.5_Missense_Mutation_p.M126T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCTCTCATATGGGTTTT	0.393																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(541-543)ATG>ACG		zinc finger protein 585A							107.0	104.0	105.0					19																	37644259		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644259A>G	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.542T>C	19.37:g.37644259A>G	ENSP00000349440:p.Met181Thr					ZNF585A_uc002ofm.1_Missense_Mutation_p.M126T|ZNF585A_uc002ofn.1_Missense_Mutation_p.M126T	p.M181T	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	773	-			181					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.542T>C		.	.	.	.	.	.	.	.	.	.	A	0.001	-3.105374	0.00033	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	3.31	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.234953	0.22606	N	0.057896	T	0.02083	0.0065	N	0.00473	-1.45	0.25473	N	0.987803	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	8.0941	0.30818	0.2412:0.0:0.7588:0.0	.	181	Q6P3V2	Z585A_HUMAN	T	181;126;126;126	ENSP00000349440:M181T;ENSP00000292841:M126T;ENSP00000375998:M126T;ENSP00000347724:M126T	ENSP00000292841:M126T	M	-	2	0	ZNF585A	42336099	0.055000	0.20627	0.487000	0.27428	0.035000	0.12851	0.674000	0.25218	0.690000	0.31570	-0.366000	0.07423	ATG		0.393	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		20	108	0	0	0	0.010504	0	20	108				
RYR1	6261	broad.mit.edu	37	19	38948812	38948812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:38948812G>A	ENST00000359596.3	+	18	2047	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	RYR1_ENST00000360985.3_Missense_Mutation_p.V683M|RYR1_ENST00000355481.4_Missense_Mutation_p.V683M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	683	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCACTTGCGGGTGGGCTGGGC	0.647																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2047-2049)GTG>ATG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						60.0	54.0	56.0					19																	38948812		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948812G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2047G>A	19.37:g.38948812G>A	ENSP00000352608:p.Val683Met					RYR1_uc002oiu.2_Missense_Mutation_p.V683M	p.V683M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2177	+	all_cancers(60;7.91e-06)		683			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2047G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005918	0.74932	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.79653	-1.29;-1.29;-1.29	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000014	D	0.90532	0.7033	M	0.83118	2.625	0.51012	D	0.999905	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.91757	0.5417	10	0.87932	D	0	.	18.1733	0.89753	0.0:0.0:1.0:0.0	.	683;683	P21817-2;P21817	.;RYR1_HUMAN	M	683	ENSP00000352608:V683M;ENSP00000347667:V683M;ENSP00000354254:V683M	ENSP00000347667:V683M	V	+	1	0	RYR1	43640652	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.623000	0.88846	0.549000	0.68633	GTG		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			29	59	0	0	0	0.008361	0	29	59				
TGFB1	7040	broad.mit.edu	37	19	41847918	41847918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:41847918G>A	ENST00000221930.5	-	5	1596	c.730C>T	c.(730-732)Cga>Tga	p.R244*		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	244	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGGTCACCTCGGCGGCCGGTA	0.617																																							uc002oqh.1		NA																	0					0						c.(730-732)CGA>TGA		transforming growth factor, beta 1 precursor	Hyaluronidase(DB00070)						42.0	45.0	44.0					19																	41847918		2203	4300	6503	SO:0001587	stop_gained	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41847918G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.730C>T	19.37:g.41847918G>A	ENSP00000221930:p.Arg244*					CYP2F1_uc010xvw.1_Intron	p.R244*	NM_000660	NP_000651	P01137	TGFB1_HUMAN			5	1597	-			244			Cell attachment site (Potential).		A8K792|Q9UCG4	Nonsense_Mutation	SNP	ENST00000221930.5	37	c.730C>T	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	G	46	12.314922	0.99656	.	.	ENSG00000105329	ENST00000221930	.	.	.	4.96	3.91	0.45181	.	0.189867	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-4.5776	10.2968	0.43629	0.0:0.0:0.7887:0.2113	.	.	.	.	X	244	.	ENSP00000221930:R244X	R	-	1	2	TGFB1	46539758	1.000000	0.71417	0.946000	0.38457	0.982000	0.71751	1.910000	0.39927	1.286000	0.44565	0.650000	0.86243	CGA		0.617	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			7	28	0	0	0	0.00308	0	7	28				
ATP1A3	478	broad.mit.edu	37	19	42471895	42471895	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:42471895C>A	ENST00000302102.5	-	21	2990	c.2840G>T	c.(2839-2841)gGg>gTg	p.G947V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958V|ATP1A3_ENST00000545399.1_Missense_Mutation_p.G960V	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	947			G -> R (in AHC2). {ECO:0000269|PubMed:22842232}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCAAACAGCCCGAAGATCAG	0.667																																							uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2839-2841)GGG>GTG		Na+/K+ -ATPase alpha 3 subunit							61.0	50.0	54.0					19																	42471895		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471895C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2840G>T	19.37:g.42471895C>A	ENSP00000302397:p.Gly947Val					ATP1A3_uc010xwf.1_Missense_Mutation_p.G958V|ATP1A3_uc010xwg.1_Missense_Mutation_p.G917V|ATP1A3_uc010xwh.1_Missense_Mutation_p.G960V|ATP1A3_uc002osh.2_Missense_Mutation_p.G947V	p.G947V	NM_152296	NP_689509	P13637	AT1A3_HUMAN			21	2994	-			947			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2840G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341389	0.60963	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	3.27	2.22	0.28083	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.126727	0.51477	D	0.000090	D	0.97888	0.9306	H	0.95504	3.68	0.80722	D	1	D;P;D;D	0.71674	0.98;0.956;0.998;0.965	P;P;D;D	0.72075	0.757;0.906;0.976;0.943	D	0.97124	0.9813	10	0.87932	D	0	.	8.4941	0.33117	0.0:0.8794:0.0:0.1206	.	960;958;947;947	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	947;947;960;917;958	ENSP00000302397:G947V;ENSP00000411503:G947V;ENSP00000444688:G960V;ENSP00000437577:G958V	ENSP00000302397:G947V	G	-	2	0	ATP1A3	47163735	1.000000	0.71417	0.380000	0.26093	0.918000	0.54935	5.915000	0.69973	0.721000	0.32231	0.462000	0.41574	GGG		0.667	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		17	27	1	0	1.45105e-14	0.006122	2.18819e-14	17	27				
PSG11	5680	broad.mit.edu	37	19	43523194	43523194	+	Missense_Mutation	SNP	G	G	A	rs371455452		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:43523194G>A	ENST00000401740.1	-	3	540	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PSG11_ENST00000403486.1_Missense_Mutation_p.T24I|PSG11_ENST00000320078.7_Missense_Mutation_p.T146I|PSG11_ENST00000306322.7_Missense_Mutation_p.T24I|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	146					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.507																																							uc002ovm.1		NA																	0					0						c.(436-438)ACT>ATT		pregnancy specific beta-1-glycoprotein 11							136.0	142.0	140.0					19																	43523194		2199	4294	6493	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523194G>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.437C>T	19.37:g.43523194G>A	ENSP00000384995:p.Thr146Ile					PSG11_uc002ouw.2_Missense_Mutation_p.T152I|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T152I|PSG11_uc002ovn.1_Missense_Mutation_p.T152I|PSG11_uc002ovo.1_Missense_Mutation_p.T24I|PSG11_uc002ovp.1_Missense_Mutation_p.T24I	p.T146I	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	544	-		Prostate(69;0.00682)	146					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.437C>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	4.402	0.074336	0.08485	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.35789	1.29;2.39;2.39;1.29	1.13	-0.395	0.12431	.	.	.	.	.	T	0.49167	0.1541	M	0.82517	2.595	0.09310	N	1	P;B	0.43973	0.823;0.386	P;P	0.54270	0.747;0.538	T	0.43261	-0.9402	9	0.59425	D	0.04	.	3.1537	0.06497	0.671:0.0:0.329:0.0	.	24;146	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	I	146;24;24;146	ENSP00000319140:T146I;ENSP00000385427:T24I;ENSP00000304913:T24I;ENSP00000384995:T146I	ENSP00000304913:T24I	T	-	2	0	PSG11	48215034	0.001000	0.12720	0.002000	0.10522	0.096000	0.18686	0.128000	0.15810	-0.398000	0.07679	0.184000	0.17185	ACT		0.507	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		81	185	0	0	0	0.00361	0	81	185				
PRR12	57479	broad.mit.edu	37	19	50098435	50098435	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:50098435C>T	ENST00000418929.2	+	4	855	c.843C>T	c.(841-843)gcC>gcT	p.A281A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGAGCGGGCCCTGCCACGCC	0.701																																							uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(841-843)GCC>GCT		proline rich 12							6.0	8.0	7.0					19																	50098435		1631	3512	5143	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50098435C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.843C>T	19.37:g.50098435C>T							p.A281A	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	843	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.843C>T	CCDS46143.1																																																																																				0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		8	10	0	0	0	0.006214	0	8	10				
PRR12	57479	broad.mit.edu	37	19	50099244	50099244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:50099244G>T	ENST00000418929.2	+	4	1664	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGGGGACCCAGCTCCCTGGGA	0.711																																							uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1651-1653)AGC>ATC		proline rich 12							19.0	22.0	21.0					19																	50099244		1906	4059	5965	SO:0001583	missense	57479						DNA binding	g.chr19:50099244G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1652G>T	19.37:g.50099244G>T	ENSP00000394510:p.Ser551Ile						p.S551I	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1652	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1652G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	9.061	0.994570	0.19043	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	T	0.54822	0.1882	.	.	.	0.34133	D	0.665531	P	0.45176	0.852	P	0.47705	0.555	T	0.69397	-0.5156	7	0.66056	D	0.02	.	11.5645	0.50796	0.0:0.0:1.0:0.0	.	551	Q9ULL5-3	.	I	551	.	ENSP00000394510:S551I	S	+	2	0	PRR12	54791056	0.009000	0.17119	0.994000	0.49952	0.420000	0.31355	1.675000	0.37555	2.196000	0.70406	0.455000	0.32223	AGC		0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		7	44	1	0	0.00621372	0.006214	0.00651619	7	44				
NLRP12	91662	broad.mit.edu	37	19	54313064	54313064	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:54313064A>G	ENST00000324134.6	-	3	2017	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	NLRP12_ENST00000354278.3_Silent_p.L617L|NLRP12_ENST00000351894.4_Silent_p.L617L|NLRP12_ENST00000535162.1_Silent_p.L617L|NLRP12_ENST00000391773.1_Silent_p.L617L|NLRP12_ENST00000391772.1_Silent_p.L617L|NLRP12_ENST00000345770.5_Silent_p.L617L|NLRP12_ENST00000391775.3_Silent_p.L617L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	617					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)			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)		ATCTCGTACAAGCAGCTGAAG	0.567																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1849-1851)TTG>CTG		NLR family, pyrin domain containing 12 isoform							88.0	85.0	86.0					19																	54313064		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:54313064A>G	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.1849T>C	19.37:g.54313064A>G						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.L617L|NLRP12_uc002qcj.3_Silent_p.L617L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L617L	p.L617L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	2069	-	Ovarian(34;0.19)		617					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1849T>C	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		29	56	0	0	0	0.002836	0	29	56				
FCAR	2204	broad.mit.edu	37	19	55401191	55401191	+	Missense_Mutation	SNP	G	G	A	rs149025092		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:55401191G>A	ENST00000355524.3	+	5	836	c.826G>A	c.(826-828)Gga>Aga	p.G276R	FCAR_ENST00000345937.4_Missense_Mutation_p.G180R|FCAR_ENST00000391726.3_Missense_Mutation_p.G168R|FCAR_ENST00000391725.3_Missense_Mutation_p.G254R|FCAR_ENST00000391724.3_Missense_Mutation_p.G242R|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.G167R|FCAR_ENST00000359272.4_Missense_Mutation_p.G264R	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	276					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGTCAGCCAGGATTGACCTT	0.537													.|||	1	0.000199681	0.0	0.0	5008	,	,		19276	0.0		0.001	False		,,,				2504	0.0						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(826-828)GGA>AGA		Fc alpha receptor isoform a precursor		G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,,ARG/GLY,ARG/GLY	0,4406		0,0,2203	130.0	131.0	131.0		826,760,538,790,502,,499,724	-0.0	0.0	19	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,utr-3,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2	125,125,125,125,125,,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging	276/288,254/266,180/192,264/276,168/180,,167/179,242/254	55401191	1,13005	2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401191G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.826G>A	19.37:g.55401191G>A	ENSP00000347714:p.Gly276Arg					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.G227R|FCAR_uc010esi.1_Missense_Mutation_p.G153R|FCAR_uc002qhu.1_Missense_Mutation_p.G180R|FCAR_uc002qhv.1_Missense_Mutation_p.G254R|FCAR_uc002qhw.1_Missense_Mutation_p.G264R|FCAR_uc002qhx.1_Missense_Mutation_p.G168R|FCAR_uc002qhy.1_Missense_Mutation_p.G242R|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.G167R	p.G276R	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	1023	+			276			Cytoplasmic (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.826G>A	CCDS12907.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.42	1.932366	0.34096	0.0	1.16E-4	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.04454	3.62;6.71;6.29;4.62;6.38;6.5;6.15	2.15	-0.0298	0.13917	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D;P;B;B;P;B;B	0.54047	0.964;0.845;0.007;0.212;0.845;0.007;0.049	P;B;B;B;B;B;B	0.48425	0.577;0.298;0.003;0.094;0.298;0.003;0.017	T	0.42327	-0.9458	9	0.72032	D	0.01	.	4.2709	0.10785	0.3606:0.0:0.6394:0.0	.	167;242;168;264;254;180;276	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	R	168;276;254;180;167;264;242	ENSP00000375606:G168R;ENSP00000347714:G276R;ENSP00000375605:G254R;ENSP00000338257:G180R;ENSP00000338058:G167R;ENSP00000352218:G264R;ENSP00000375604:G242R	ENSP00000338257:G180R	G	+	1	0	FCAR	60093003	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.073000	0.11468	0.053000	0.16036	0.557000	0.71058	GGA		0.537	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		30	118	0	0	0	0.007291	0	30	118				
ZIM3	114026	broad.mit.edu	37	19	57648337	57648337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:57648337G>T	ENST00000269834.1	-	4	530	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	49	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTCCCCTTGTCCTGTGATG	0.498																																							uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(145-147)CAA>AAA		zinc finger, imprinted 3							232.0	163.0	186.0					19																	57648337		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57648337G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.145C>A	19.37:g.57648337G>T	ENSP00000269834:p.Gln49Lys						p.Q49K	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	531	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	49			KRAB.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.145C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371537	0.01225	.	.	ENSG00000141946	ENST00000269834	T	0.04234	3.67	1.34	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.01387	0.0045	N	0.00456	-1.48	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45249	-0.9274	9	0.46703	T	0.11	.	5.273	0.15634	0.0:0.4794:0.5206:0.0	.	49	Q96PE6	ZIM3_HUMAN	K	49	ENSP00000269834:Q49K	ENSP00000269834:Q49K	Q	-	1	0	ZIM3	62340149	0.013000	0.17824	0.001000	0.08648	0.011000	0.07611	0.157000	0.16402	0.136000	0.18733	0.313000	0.20887	CAA		0.498	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			27	67	1	0	2.4375e-19	0.007291	3.91871e-19	27	67				
ZNF324B	388569	broad.mit.edu	37	19	58966598	58966598	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:58966598G>C	ENST00000336614.4	+	4	394	c.287G>C	c.(286-288)cGa>cCa	p.R96P	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R96P|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R86P	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAATGGCCACGAGCTTTCCCA	0.557																																							uc002qsv.1		NA																	0				ovary(1)	1						c.(286-288)CGA>CCA		zinc finger protein 324B							93.0	101.0	98.0					19																	58966598		2203	4298	6501	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966598G>C	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.287G>C	19.37:g.58966598G>C	ENSP00000337473:p.Arg96Pro					ZNF324B_uc002qsu.1_Missense_Mutation_p.R86P|ZNF324B_uc010euq.1_Missense_Mutation_p.R96P	p.R96P	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	394	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	96					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.287G>C	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589136	0.03799	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.09350	3.28;3.28;2.99	2.14	-4.28	0.03732	.	1.142620	0.06754	N	0.780594	T	0.04588	0.0125	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41610	-0.9499	10	0.22706	T	0.39	.	2.8279	0.05490	0.1201:0.3123:0.4152:0.1524	.	96;86	Q6AW86;C9JTQ8	Z324B_HUMAN;.	P	96;96;86	ENSP00000337473:R96P;ENSP00000438930:R96P;ENSP00000375578:R86P	ENSP00000337473:R96P	R	+	2	0	ZNF324B	63658410	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.123000	0.10611	-1.348000	0.02205	-2.229000	0.00292	CGA		0.557	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		43	86	0	0	0	0.00361	0	43	86				
TRIB2	28951	broad.mit.edu	37	2	12880652	12880652	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:12880652A>G	ENST00000155926.4	+	3	2183	c.764A>G	c.(763-765)cAt>cGt	p.H255R	TRIB2_ENST00000381465.2_Missense_Mutation_p.H119R	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCCTTTCCATGACATTGAA	0.572																																							uc002rbv.3		NA																	0				stomach(1)	1						c.(763-765)CAT>CGT		tribbles homolog 2							102.0	73.0	83.0					2																	12880652		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880652A>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.764A>G	2.37:g.12880652A>G	ENSP00000155926:p.His255Arg					TRIB2_uc010yjp.1_Missense_Mutation_p.H119R	p.H255R	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2200	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		255			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.764A>G	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616170	0.66672	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.63744	-0.06;-0.06	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.37561	1.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73401	-0.3994	10	0.56958	D	0.05	-16.4967	15.107	0.72329	1.0:0.0:0.0:0.0	.	255	Q92519	TRIB2_HUMAN	R	255;119	ENSP00000155926:H255R;ENSP00000370874:H119R	ENSP00000155926:H255R	H	+	2	0	TRIB2	12798103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.158000	0.67659	0.528000	0.53228	CAT		0.572	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		9	28	0	0	0	0.004482	0	9	28				
APOB	338	broad.mit.edu	37	2	21224686	21224686	+	Silent	SNP	C	C	T	rs377641527		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:21224686C>T	ENST00000233242.1	-	29	13735	c.13608G>A	c.(13606-13608)acG>acA	p.T4536T	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4536					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T4536T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTAACTCCGTGATGTATA	0.363																																							uc002red.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13606-13608)ACG>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)	C		0,4406		0,0,2203	135.0	136.0	135.0		13608	-11.3	0.0	2		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		4536/4564	21224686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224686C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13608G>A	2.37:g.21224686C>T							p.T4536T	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4536					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.13608G>A	CCDS1703.1																																																																																				0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	127	0	0	0	0.001984	0	7	127				
DNMT3A	1788	broad.mit.edu	37	2	25523106	25523106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:25523106C>A	ENST00000264709.3	-	3	416	c.79G>T	c.(79-81)Gag>Tag	p.E27*	DNMT3A_ENST00000406659.3_Nonsense_Mutation_p.E27*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E27*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	27					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCTCCTCTCCGTCCTGC	0.682			"""Mis, F, N, S"""		AML																																		uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(79-81)GAG>TAG		DNA cytosine methyltransferase 3 alpha isoform							53.0	45.0	48.0					2																	25523106		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523106C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.79G>T	2.37:g.25523106C>A	ENSP00000264709:p.Glu27*					DNMT3A_uc002rgd.2_Nonsense_Mutation_p.E27*|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Nonsense_Mutation_p.E24*|DNMT3A_uc002rgf.2_Nonsense_Mutation_p.E27*	p.E27*	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			3	336	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.79G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.363685	0.98238	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	.	.	.	5.15	5.15	0.70609	.	0.000000	0.40302	N	0.001124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.1145	14.1218	0.65192	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000264709:E27X	E	-	1	0	DNMT3A	25376610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.780000	0.55386	2.384000	0.81235	0.462000	0.41574	GAG		0.682	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	19	1	0	0.00116845	0.001168	0.00125679	5	19				
GTF3C2	2976	broad.mit.edu	37	2	27550111	27550111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:27550111C>A	ENST00000359541.2	-	18	2879	c.2450G>T	c.(2449-2451)cGc>cTc	p.R817L	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.R817L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	817					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTGCATGCGCAGCATTGG	0.507																																							uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(2449-2451)CGC>CTC		general transcription factor IIIC, polypeptide							74.0	62.0	66.0					2																	27550111		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27550111C>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2450G>T	2.37:g.27550111C>A	ENSP00000352536:p.Arg817Leu					MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.R272L|GTF3C2_uc002rju.1_Missense_Mutation_p.R828L|GTF3C2_uc002rjw.1_Missense_Mutation_p.R817L	p.R817L	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			19	2813	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		817					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2450G>T	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.95|18.95	3.731160|3.731160	0.69189|0.69189	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000431028;ENST00000454704;ENST00000415683|ENST00000359541;ENST00000264720	.|T;T	.|0.74737	.|-0.87;-0.87	4.95|4.95	4.95|4.95	0.65309|0.65309	.|WD40 repeat-like-containing domain (1);	.|0.055758	.|0.64402	.|D	.|0.000001	T|T	0.73737|0.73737	0.3625|0.3625	N|N	0.24115|0.24115	0.695|0.695	0.44432|0.44432	D|D	0.997352|0.997352	.|D	.|0.65815	.|0.995	.|P	.|0.61592	.|0.891	T|T	0.70905|0.70905	-0.4745|-0.4745	5|10	.|0.28530	.|T	.|0.3	-12.3143|-12.3143	13.568|13.568	0.61830|0.61830	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|817	.|Q8WUA4	.|TF3C2_HUMAN	S|L	32;326;240|817	.|ENSP00000352536:R817L;ENSP00000264720:R817L	.|ENSP00000264720:R817L	A|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27403615|27403615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	4.336000|4.336000	0.59304|0.59304	2.579000|2.579000	0.87056|0.87056	0.651000|0.651000	0.88453|0.88453	GCA|CGC		0.507	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			5	39	1	0	1.23904e-05	0.000602	1.46662e-05	5	39				
C2orf71	388939	broad.mit.edu	37	2	29294243	29294243	+	Missense_Mutation	SNP	T	T	A	rs536806834		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:29294243T>A	ENST00000331664.5	-	1	2884	c.2885A>T	c.(2884-2886)cAc>cTc	p.H962L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	962					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGGCCGGAGTGGTGCCAGGC	0.647																																							uc002rmt.1		NA																	0				skin(1)	1						c.(2884-2886)CAC>CTC		hypothetical protein LOC388939							34.0	38.0	37.0					2																	29294243		1993	4184	6177	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294243T>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2885A>T	2.37:g.29294243T>A	ENSP00000332809:p.His962Leu						p.H962L	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2885	-			962						Missense_Mutation	SNP	ENST00000331664.5	37	c.2885A>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780518	0.31502	.	.	ENSG00000179270	ENST00000331664	T	0.20738	2.05	5.61	3.22	0.36961	.	0.277006	0.33217	N	0.005149	T	0.29652	0.0740	M	0.66939	2.045	0.09310	N	1	P	0.47910	0.902	P	0.49192	0.602	T	0.10753	-1.0616	10	0.72032	D	0.01	-11.923	9.0184	0.36184	0.0:0.1576:0.0:0.8424	.	962	A6NGG8	CB071_HUMAN	L	962	ENSP00000332809:H962L	ENSP00000332809:H962L	H	-	2	0	C2orf71	29147747	0.004000	0.15560	0.125000	0.21846	0.285000	0.27093	0.510000	0.22723	0.406000	0.25560	0.482000	0.46254	CAC		0.647	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		4	57	0	0	0	0.009096	0	4	57				
ALK	238	broad.mit.edu	37	2	29449807	29449807	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:29449807C>A	ENST00000389048.3	-	18	3954	c.3048G>T	c.(3046-3048)gaG>gaT	p.E1016D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1016					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGACGCCATCCTCAGCCAGCA	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3046-3048)GAG>GAT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						180.0	163.0	168.0					2																	29449807		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29449807C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3048G>T	2.37:g.29449807C>A	ENSP00000373700:p.Glu1016Asp						p.E1016D	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			18	3955	-	Acute lymphoblastic leukemia(172;0.155)		1016			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3048G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	5.520	0.280863	0.10458	.	.	ENSG00000171094	ENST00000389048	T	0.77098	-1.07	5.38	2.08	0.27032	.	0.148155	0.30177	N	0.010239	T	0.66896	0.2836	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56505	-0.7968	9	.	.	.	.	5.7809	0.18306	0.1282:0.6245:0.126:0.1214	.	1016	Q9UM73	ALK_HUMAN	D	1016	ENSP00000373700:E1016D	.	E	-	3	2	ALK	29303311	0.000000	0.05858	0.909000	0.35828	0.137000	0.21094	-0.714000	0.05002	0.624000	0.30286	0.467000	0.42956	GAG		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		50	108	1	0	3.50607e-19	0.00361	5.62463e-19	50	108				
LRRTM1	347730	broad.mit.edu	37	2	80530395	80530395	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:80530395A>C	ENST00000295057.3	-	2	1206	c.550T>G	c.(550-552)Tgc>Ggc	p.C184G	LRRTM1_ENST00000409148.1_Missense_Mutation_p.C184G|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	184					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCTGCGGCAGTCCTGGAAG	0.612										HNSCC(69;0.2)																													uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(550-552)TGC>GGC		leucine rich repeat transmembrane neuronal 1							59.0	63.0	62.0					2																	80530395		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530395A>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.550T>G	2.37:g.80530395A>C	ENSP00000295057:p.Cys184Gly	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.C184G	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	820	-			184			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.550T>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394959	0.62066	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.79845	-1.31;-1.31;4.25	4.73	4.73	0.59995	.	0.000000	0.85682	U	0.000000	D	0.87815	0.6272	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87720	0.2572	9	.	.	.	.	14.1994	0.65693	1.0:0.0:0.0:0.0	.	184	Q86UE6	LRRT1_HUMAN	G	184	ENSP00000295057:C184G;ENSP00000386646:C184G;ENSP00000415368:C184G	.	C	-	1	0	LRRTM1	80383906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	1.725000	0.51514	0.533000	0.62120	TGC		0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		10	60	0	0	0	0.008291	0	10	60				
ST3GAL5	8869	broad.mit.edu	37	2	86088367	86088367	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:86088367T>A	ENST00000377332.3	-	3	363	c.255A>T	c.(253-255)ttA>ttT	p.L85F	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L57F|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L85F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L62F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	85					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TAGTATAATTTAACTTGAGGA	0.333																																							uc002sqq.1		NA																	0					0						c.(253-255)TTA>TTT		ST3 beta-galactoside alpha-2,3-sialyltransferase							121.0	119.0	120.0					2																	86088367		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86088367T>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.255A>T	2.37:g.86088367T>A	ENSP00000366549:p.Leu85Phe					ST3GAL5_uc010ysy.1_Missense_Mutation_p.L85F|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L85F|ST3GAL5_uc010fgq.1_5'UTR|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L62F	p.L85F	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			3	384	-			85			Lumenal (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.255A>T	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906601	0.72868	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.62105	1.28;1.29;1.25;0.27;0.05	5.84	0.396	0.16309	.	0.407102	0.22206	N	0.063172	T	0.48187	0.1486	L	0.32530	0.975	0.37142	D	0.901769	P;P;B;B	0.41929	0.765;0.765;0.006;0.01	B;B;B;B	0.43445	0.42;0.42;0.007;0.017	T	0.48692	-0.9013	10	0.87932	D	0	-4.9068	4.7895	0.13241	0.0:0.2595:0.151:0.5895	.	85;85;85;62	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	F	62;57;85;57;85	ENSP00000377397:L62F;ENSP00000377394:L57F;ENSP00000366549:L85F;ENSP00000401375:L57F;ENSP00000433607:L85F	ENSP00000306247:L85F	L	-	3	2	ST3GAL5	85941878	0.999000	0.42202	0.996000	0.52242	0.987000	0.75469	0.286000	0.18902	-0.150000	0.11195	0.533000	0.62120	TTA		0.333	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		30	53	0	0	0	0.002096	0	30	53				
IMMT	10989	broad.mit.edu	37	2	86378436	86378436	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:86378436G>C	ENST00000410111.3	-	12	1772	c.1385C>G	c.(1384-1386)gCt>gGt	p.A462G	IMMT_ENST00000254636.5_Missense_Mutation_p.A363G|IMMT_ENST00000449247.2_Missense_Mutation_p.A451G|IMMT_ENST00000409051.2_Missense_Mutation_p.A415G|IMMT_ENST00000442664.2_Missense_Mutation_p.A461G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	462					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCCTGTTCAGCCTGTATTTC	0.398																																							uc002sqz.3		NA																	0				skin(1)	1						c.(1384-1386)GCT>GGT		inner membrane protein, mitochondrial isoform 1							111.0	97.0	101.0					2																	86378436		1904	4133	6037	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86378436G>C	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1385C>G	2.37:g.86378436G>C	ENSP00000387262:p.Ala462Gly					IMMT_uc002sqy.3_Missense_Mutation_p.A203G|IMMT_uc002srb.3_Missense_Mutation_p.A451G|IMMT_uc002sra.3_Missense_Mutation_p.A461G|IMMT_uc010ytd.1_Missense_Mutation_p.A450G|IMMT_uc010yte.1_Missense_Mutation_p.A415G|IMMT_uc002src.1_Missense_Mutation_p.A198G	p.A462G	NM_006839	NP_006830	Q16891	IMMT_HUMAN			12	1773	-			462			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1385C>G	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597067	0.46318	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.86	4.04	0.47022	.	0.368409	0.30401	N	0.009706	T	0.19087	0.0458	N	0.22421	0.69	0.28842	N	0.896555	B;B;B;B;B;B	0.24258	0.056;0.1;0.1;0.082;0.082;0.1	B;B;B;B;B;B	0.32090	0.06;0.14;0.14;0.086;0.036;0.14	T	0.08066	-1.0740	10	0.23891	T	0.37	-7.2587	6.0795	0.19933	0.2918:0.0:0.7082:0.0	.	415;450;364;451;430;462	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;IMMT_HUMAN	G	363;451;462;461;415;451;430;363	ENSP00000254636:A363G;ENSP00000396899:A451G;ENSP00000387262:A462G;ENSP00000407788:A461G;ENSP00000387227:A415G	ENSP00000254636:A363G	A	-	2	0	IMMT	86231947	0.907000	0.30839	1.000000	0.80357	0.884000	0.51177	5.486000	0.66856	2.802000	0.96397	0.650000	0.86243	GCT		0.398	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		3	43	0	0	0	0.004672	0	3	43				
MRPS5	64969	broad.mit.edu	37	2	95753185	95753185	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:95753185C>A	ENST00000272418.2	-	12	1418	c.1210G>T	c.(1210-1212)Gtc>Ttc	p.V404F		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	404					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCCAGTTTGACGTCTGGAACC	0.567																																							uc002sub.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1210-1212)GTC>TTC		mitochondrial ribosomal protein S5							102.0	92.0	95.0					2																	95753185		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95753185C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1210G>T	2.37:g.95753185C>A	ENSP00000272418:p.Val404Phe					MRPS5_uc002suc.2_RNA	p.V404F	NM_031902	NP_114108	P82675	RT05_HUMAN			12	1428	-			404					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.1210G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775335	0.31411	.	.	ENSG00000144029	ENST00000272418	.	.	.	6.03	-2.14	0.07123	.	0.514393	0.21953	N	0.066720	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.10064	-1.0646	9	0.38643	T	0.18	0.0076	6.0376	0.19716	0.1152:0.3386:0.0:0.5462	.	404	P82675	RT05_HUMAN	F	404	.	ENSP00000272418:V404F	V	-	1	0	MRPS5	95116912	0.298000	0.24417	0.000000	0.03702	0.561000	0.35649	0.458000	0.21892	-0.609000	0.05724	-1.191000	0.01696	GTC		0.567	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		13	52	1	0	1.49906e-05	0.00245	1.76884e-05	13	52				
INHBB	3625	broad.mit.edu	37	2	121107445	121107445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:121107445G>T	ENST00000295228.3	+	2	1265	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	407					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GTGCGGCTGCGCCTGACAGTG	0.637																																							uc002tmn.2		NA																	0				pancreas(2)|skin(1)	3						c.(1219-1221)GCC>TCC		inhibin beta B subunit preproprotein							18.0	19.0	18.0					2																	121107445		2077	4067	6144	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107445G>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1219G>T	2.37:g.121107445G>T	ENSP00000295228:p.Ala407Ser						p.A407S	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	1265	+		Prostate(154;0.122)	407					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.1219G>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675185	0.47781	.	.	ENSG00000163083	ENST00000295228	D	0.82984	-1.67	4.47	3.56	0.40772	Transforming growth factor-beta, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.59404	0.2191	N	0.00298	-1.69	0.50632	D	0.99988	P	0.39157	0.662	P	0.50352	0.638	T	0.66212	-0.5980	10	0.02654	T	1	-18.6573	12.4796	0.55833	0.0:0.0:0.8309:0.1691	.	407	P09529	INHBB_HUMAN	S	407	ENSP00000295228:A407S	ENSP00000295228:A407S	A	+	1	0	INHBB	120823915	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	7.712000	0.84684	1.038000	0.40049	0.462000	0.41574	GCC		0.637	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			10	25	1	0	1.76689e-08	0.006214	2.32097e-08	10	25				
GLI2	2736	broad.mit.edu	37	2	121747560	121747560	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:121747560G>T	ENST00000452319.1	+	14	4130	c.4070G>T	c.(4069-4071)gGc>gTc	p.G1357V	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.G1357V					GLI family zinc finger 2									p.G1357V(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCCAAACAGGCCCGATGGGG	0.692																																							uc010flp.2		NA																	2	Substitution - Missense(2)		skin(2)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4069-4071)GGC>GTC		GLI-Kruppel family member GLI2							11.0	13.0	12.0					2																	121747560		2191	4269	6460	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747560G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4070G>T	2.37:g.121747560G>T	ENSP00000390436:p.Gly1357Val					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G1029V|GLI2_uc002tmu.3_Missense_Mutation_p.G1012V	p.G1357V	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4100	+	Renal(3;0.0496)	Prostate(154;0.0623)	1357						Missense_Mutation	SNP	ENST00000452319.1	37	c.4070G>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169428	0.06461	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15256	2.44;2.44	4.55	1.41	0.22369	.	1.428860	0.04037	N	0.302477	T	0.19046	0.0457	L	0.51422	1.61	0.09310	N	0.999999	P;P	0.45827	0.638;0.867	B;B	0.43103	0.231;0.408	T	0.18587	-1.0332	9	.	.	.	.	4.6657	0.12664	0.3355:0.1674:0.4971:0.0	.	1357;1012	P10070;P10070-2	GLI2_HUMAN;.	V	1357	ENSP00000390436:G1357V;ENSP00000354586:G1357V	.	G	+	2	0	GLI2	121464030	0.498000	0.26075	0.088000	0.20740	0.088000	0.18126	0.620000	0.24403	0.498000	0.27948	0.455000	0.32223	GGC		0.692	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		10	10	1	0	0.000978159	0.000978	0.00105815	10	10				
CNTNAP5	129684	broad.mit.edu	37	2	125175123	125175123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:125175123G>T	ENST00000431078.1	+	4	849	c.485G>T	c.(484-486)aGt>aTt	p.S162I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	162	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S162N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAATCCCAGTGGGAAGATT	0.502																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(484-486)AGT>ATT		contactin associated protein-like 5 precursor							93.0	97.0	96.0					2																	125175123		1978	4165	6143	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175123G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.485G>T	2.37:g.125175123G>T	ENSP00000399013:p.Ser162Ile					CNTNAP5_uc010flu.2_Missense_Mutation_p.S162I	p.S162I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	849	+			162			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.485G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433662	0.43224	.	.	ENSG00000155052	ENST00000431078	D	0.98296	-4.85	6.17	-0.862	0.10673	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.587239	0.16125	N	0.228443	D	0.94092	0.8106	L	0.32530	0.975	0.09310	N	1	B	0.28470	0.213	B	0.32022	0.139	D	0.88705	0.3218	10	0.49607	T	0.09	.	2.5207	0.04679	0.4319:0.1172:0.332:0.119	.	162	Q8WYK1	CNTP5_HUMAN	I	162	ENSP00000399013:S162I	ENSP00000399013:S162I	S	+	2	0	CNTNAP5	124891593	0.003000	0.15002	0.003000	0.11579	0.976000	0.68499	0.194000	0.17135	-0.062000	0.13088	0.655000	0.94253	AGT		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	25	1	0	0.004672	0.004672	0.00490625	3	25				
PLEKHB2	55041	broad.mit.edu	37	2	131883344	131883344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:131883344G>T	ENST00000403716.1	+	3	616	c.56G>T	c.(55-57)tGg>tTg	p.W19L	PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	19	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTGAAGCGCTGGAAGAAGAAC	0.413																																							uc002tsg.3		NA																	0				ovary(2)	2						c.(55-57)TGG>TTG		pleckstrin homology domain containing, family B							91.0	85.0	87.0					2																	131883344		2203	4300	6503	SO:0001583	missense	55041					membrane	protein binding	g.chr2:131883344G>T		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.56G>T	2.37:g.131883344G>T	ENSP00000385892:p.Trp19Leu					PLEKHB2_uc002tsh.2_Missense_Mutation_p.W19L|PLEKHB2_uc002tsj.3_Missense_Mutation_p.W19L|PLEKHB2_uc002tsf.3_Missense_Mutation_p.W19L|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.W19L|PLEKHB2_uc010zaq.1_Missense_Mutation_p.W19L|PLEKHB2_uc002tsi.3_Missense_Mutation_p.W60L	p.W19L	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	3	616	+			19			PH.		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	c.56G>T	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640170	0.87760	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.63355	0.2504	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.999;0.999;0.999	T	0.72184	-0.4367	10	0.87932	D	0	-1.4668	15.9847	0.80142	0.0:0.0:1.0:0.0	.	19;19;19;19;19;19;19	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	L	19	ENSP00000386410:W19L;ENSP00000385892:W19L;ENSP00000234115:W19L;ENSP00000389629:W19L;ENSP00000401193:W19L;ENSP00000385609:W19L;ENSP00000386662:W19L;ENSP00000386666:W19L;ENSP00000306852:W19L	ENSP00000234115:W19L	W	+	2	0	PLEKHB2	131599814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.723000	0.91458	2.443000	0.82685	0.462000	0.41574	TGG		0.413	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		16	70	1	0	7.05477e-17	0.00499	1.09903e-16	16	70				
LOC401010	401010	broad.mit.edu	37	2	132201106	132201106	+	IGR	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:132201106G>T								AC073869.19 (34484 upstream) : RP11-109E12.1 (18287 downstream)																							CATTCGCAGTGGGTAGAAGCG	0.597																																							uc002tst.2		NA																	0					0						c.(895-897)CCA>CAA		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201106G>T																													2.37:g.132201106G>T							p.P299Q	NR_002826						1	1362	-									Missense_Mutation	SNP		37	c.896C>A																																																																																				0	0.597									4	14	1	0	0.00024832	0.009096	0.000277794	4	14				
MAP3K19	80122	broad.mit.edu	37	2	135738894	135738894	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:135738894G>A	ENST00000375845.3	-	9	3447	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.F321F|MAP3K19_ENST00000392917.3_Silent_p.F271F|MAP3K19_ENST00000358371.4_Silent_p.F1026F	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CAAACTCCATGAAAATGCTCA	0.408																																							uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3415-3417)TTC>TTT		Yeast Sps1/Ste20-related kinase 4 isoform 1							134.0	126.0	129.0					2																	135738894		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738894G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3417C>T	2.37:g.135738894G>A						YSK4_uc002tuf.1_Silent_p.F321F|YSK4_uc010fnc.1_Silent_p.F273F|YSK4_uc010fnd.1_Silent_p.F1026F|YSK4_uc010zbg.1_Silent_p.F271F|YSK4_uc002tuh.3_Silent_p.F867F|YSK4_uc002tui.3_3'UTR	p.F1139F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3448	-			1139			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.3417C>T	CCDS2176.2																																																																																				0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		13	154	0	0	0	0.001368	0	13	154				
LRP1B	53353	broad.mit.edu	37	2	141526889	141526889	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:141526889G>A	ENST00000389484.3	-	35	6622	c.5651C>T	c.(5650-5652)tCt>tTt	p.S1884F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1884					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATGAACAGAGTACATAAG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5650-5652)TCT>TTT		low density lipoprotein-related protein 1B							71.0	69.0	70.0					2																	141526889		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526889G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5651C>T	2.37:g.141526889G>A	ENSP00000374135:p.Ser1884Phe	TSP Lung(27;0.18)					p.S1884F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	35	6623	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1884			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5651C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056149	0.93793	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92348	-3.02	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97593	1.0118	10	0.87932	D	0	.	19.5947	0.95530	0.0:0.0:1.0:0.0	.	1884	Q9NZR2	LRP1B_HUMAN	F	1884;1822	ENSP00000374135:S1884F	ENSP00000374135:S1884F	S	-	2	0	LRP1B	141243359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.636000	0.89361	0.655000	0.94253	TCT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	51	0	0	0	0.008871	0	19	51				
RIF1	55183	broad.mit.edu	37	2	152320091	152320091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:152320091G>C	ENST00000243326.5	+	29	4540	c.4057G>C	c.(4057-4059)Gac>Cac	p.D1353H	RIF1_ENST00000444746.2_Missense_Mutation_p.D1353H|RIF1_ENST00000428287.2_Missense_Mutation_p.D1353H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1353H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1353H			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGGAGCATGACAATACAAA	0.343																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(4057-4059)GAC>CAC		RAP1 interacting factor 1							61.0	65.0	64.0					2																	152320091		2203	4299	6502	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320091G>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4057G>C	2.37:g.152320091G>C	ENSP00000243326:p.Asp1353His					RIF1_uc002txl.2_Missense_Mutation_p.D1353H|RIF1_uc002txn.2_Missense_Mutation_p.D1353H|RIF1_uc002txo.2_Missense_Mutation_p.D1353H|RIF1_uc002txp.2_RNA	p.D1353H	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	4187	+			1353					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4057G>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032741	0.07543	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	4.92	4.03	0.46877	.	0.704857	0.14240	N	0.332163	T	0.09158	0.0226	N	0.08118	0	0.32369	N	0.556143	B;P	0.44946	0.008;0.846	B;P	0.48141	0.006;0.568	T	0.17961	-1.0352	10	0.37606	T	0.19	-1.2616	11.7613	0.51905	0.0837:0.0:0.9163:0.0	.	1353;1353	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	H	1353	ENSP00000390181:D1353H;ENSP00000414615:D1353H;ENSP00000415691:D1353H;ENSP00000243326:D1353H;ENSP00000416123:D1353H	ENSP00000243326:D1353H	D	+	1	0	RIF1	152028337	0.852000	0.29690	0.016000	0.15963	0.032000	0.12392	3.060000	0.49955	1.277000	0.44412	0.557000	0.71058	GAC		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			21	66	0	0	0	0.008871	0	21	66				
B3GALT1	8708	broad.mit.edu	37	2	168726357	168726357	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:168726357C>A	ENST00000392690.3	+	1	900	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	B3GALT1_ENST00000305861.1_Missense_Mutation_p.L270M|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	270					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATATGTGGGACTGTGTCTTCG	0.473																																							uc002udz.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(808-810)CTG>ATG		UDP-Gal:betaGlcNAc beta							102.0	83.0	89.0					2																	168726357		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726357C>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.808C>A	2.37:g.168726357C>A	ENSP00000376456:p.Leu270Met						p.L270M	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	1159	+			270			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.808C>A	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239238	0.39598	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.87029	-2.2;-2.2	6.02	2.14	0.27477	.	0.070231	0.64402	D	0.000019	T	0.80276	0.4593	N	0.10664	0.02	0.47511	D	0.99944	P	0.45986	0.87	P	0.58721	0.844	T	0.73212	-0.4054	10	0.02654	T	1	-11.3995	11.5844	0.50910	0.0:0.7788:0.0:0.2212	.	270	Q9Y5Z6	B3GT1_HUMAN	M	270	ENSP00000303740:L270M;ENSP00000376456:L270M	ENSP00000303740:L270M	L	+	1	2	B3GALT1	168434603	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	0.879000	0.28146	0.129000	0.18514	0.655000	0.94253	CTG		0.473	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		23	67	1	0	1.55795e-14	0.001882	2.34469e-14	23	67				
METAP1D	254042	broad.mit.edu	37	2	172942530	172942530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:172942530T>A	ENST00000315796.4	+	7	1097	c.710T>A	c.(709-711)aTa>aAa	p.I237K	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	237					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TAAAGCCACATAACTCATCAG	0.303																																							uc002uhk.2		NA																	0					0						c.(709-711)ATA>AAA		methionine aminopeptidase 1D precursor							91.0	85.0	87.0					2																	172942530		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172942530T>A	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.710T>A	2.37:g.172942530T>A	ENSP00000315152:p.Ile237Lys					MAP1D_uc010zdw.1_Missense_Mutation_p.I119K	p.I237K	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	783	+			237					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.710T>A	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417290	0.42918	.	.	ENSG00000172878	ENST00000315796	T	0.77098	-1.07	5.73	4.56	0.56223	Peptidase M24, structural domain (3);	0.038854	0.85682	D	0.000000	T	0.75436	0.3849	M	0.63169	1.94	0.58432	D	0.999999	B	0.23990	0.095	B	0.29267	0.1	T	0.70749	-0.4787	10	0.35671	T	0.21	-5.7618	13.0567	0.58984	0.0:0.0:0.1344:0.8656	.	237	Q6UB28	AMP1D_HUMAN	K	237	ENSP00000315152:I237K	ENSP00000315152:I237K	I	+	2	0	METAP1D	172650776	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	4.983000	0.63832	1.080000	0.41073	0.533000	0.62120	ATA		0.303	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		8	66	0	0	0	0.00308	0	8	66				
CDCA7	83879	broad.mit.edu	37	2	174223566	174223566	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:174223566G>T	ENST00000347703.3	+	2	291		c.e2+1		AC092573.2_ENST00000437243.1_RNA|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000306721.3_Splice_Site|CDCA7_ENST00000392567.2_Splice_Site|CDCA7_ENST00000410101.3_Splice_Site	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGCAAACACGGTAAGTGCTGC	0.403																																							uc002uid.1		NA																	0				ovary(1)	1						c.e2+1		cell division cycle associated 7 isoform 2							83.0	84.0	84.0					2																	174223566		2203	4300	6503	SO:0001630	splice_region_variant	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174223566G>T	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.147+1G>T	2.37:g.174223566G>T						CDCA7_uc002uic.1_Splice_Site_p.T49_splice|CDCA7_uc010zej.1_Splice_Site_p.T49_splice|CDCA7_uc010zek.1_Intron	p.T49_splice	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		2	278	+								B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Splice_Site	SNP	ENST00000347703.3	37	c.147_splice	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705887	0.68615	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDCA7	173931812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.888000	0.92464	2.729000	0.93468	0.655000	0.94253	.		0.403	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942	Intron	19	67	1	0	2.94398e-08	0.007413	3.85376e-08	19	67				
KIAA1715	80856	broad.mit.edu	37	2	176794796	176794796	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:176794796C>G	ENST00000272748.4	-	13	1433	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.E427Q|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	396					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCCTCATTCTCAGTCTCTTGT	0.438																																							uc002ukc.1		NA																	0				ovary(2)|skin(1)	3						c.(1186-1188)GAG>CAG		Lunapark							215.0	198.0	203.0					2																	176794796		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176794796C>G	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1186G>C	2.37:g.176794796C>G	ENSP00000272748:p.Glu396Gln					KIAA1715_uc010zer.1_Missense_Mutation_p.E427Q|KIAA1715_uc010fqw.1_Missense_Mutation_p.E462Q|KIAA1715_uc010zes.1_Missense_Mutation_p.E398Q|KIAA1715_uc002ukd.1_Missense_Mutation_p.E273Q|KIAA1715_uc010zet.1_RNA	p.E396Q	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1379	-			396			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.1186G>C	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	c	7.270	0.607040	0.14002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.57	0.545	0.17190	.	0.553893	0.20841	N	0.084714	T	0.38904	0.1058	L	0.59436	1.845	0.19575	N	0.999969	B;B;B;B	0.13145	0.007;0.002;0.002;0.001	B;B;B;B	0.12837	0.008;0.007;0.004;0.002	T	0.36890	-0.9729	9	0.87932	D	0	3.2291	6.0121	0.19582	0.0:0.526:0.2539:0.2201	.	398;427;393;396	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	396;398;273;427	.	ENSP00000272748:E396Q	E	-	1	0	KIAA1715	176503042	0.003000	0.15002	0.000000	0.03702	0.297000	0.27493	0.470000	0.22084	-0.101000	0.12219	-0.222000	0.12452	GAG		0.438	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		21	91	0	0	0	0.010504	0	21	91				
TTN	7273	broad.mit.edu	37	2	179437771	179437771	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179437771G>T	ENST00000591111.1	-	276	68389	c.68165C>A	c.(68164-68166)gCc>gAc	p.A22722D	TTN_ENST00000589042.1_Missense_Mutation_p.A24363D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15423D|TTN_ENST00000460472.2_Missense_Mutation_p.A15298D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21795D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15490D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22722	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CTCTGGCAGGGCAATCTCAAC	0.448																																							uc010zfg.1		NA																	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.(65383-65385)GCC>GAC		titin isoform N2-A							74.0	73.0	73.0					2																	179437771		2010	4175	6185	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437771G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68165C>A	2.37:g.179437771G>T	ENSP00000465570:p.Ala22722Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A15490D|TTN_uc010zfi.1_Missense_Mutation_p.A15423D|TTN_uc010zfj.1_Missense_Mutation_p.A15298D	p.A21795D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65608	-			22722					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.65384C>A		.	.	.	.	.	.	.	.	.	.	G	11.77	1.738786	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53449	0.1797	N	0.20401	0.57	0.37016	D	0.895945	D;D;D;P	0.54772	0.968;0.968;0.968;0.884	P;P;P;P	0.55303	0.773;0.773;0.773;0.625	T	0.61758	-0.6997	9	0.87932	D	0	.	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	15298;15423;15490;22722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	21795;15298;15490;15423;15296	ENSP00000343764:A21795D;ENSP00000434586:A15298D;ENSP00000340554:A15490D;ENSP00000352154:A15423D	ENSP00000340554:A15490D	A	-	2	0	TTN	179146017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.867000	0.63013	2.894000	0.99253	0.655000	0.94253	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	27	1	0	0.00909568	0.009096	0.00944648	4	27				
TTN	7273	broad.mit.edu	37	2	179462456	179462456	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179462456C>A	ENST00000591111.1	-	244	52654	c.52430G>T	c.(52429-52431)gGa>gTa	p.G17477V	TTN_ENST00000589042.1_Missense_Mutation_p.G19118V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10178V|TTN_ENST00000460472.2_Missense_Mutation_p.G10053V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16550V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10245V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17477	Ig-like 103.				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)			AGGAGGCTTTCCAGACACATA	0.483																																							uc010zfg.1		NA																	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.(49648-49650)GGA>GTA		titin isoform N2-A							148.0	134.0	139.0					2																	179462456		2006	4190	6196	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462456C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52430G>T	2.37:g.179462456C>A	ENSP00000465570:p.Gly17477Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10245V|TTN_uc010zfi.1_Missense_Mutation_p.G10178V|TTN_uc010zfj.1_Missense_Mutation_p.G10053V	p.G16550V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		243	49873	-			17477					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.49649G>T		.	.	.	.	.	.	.	.	.	.	C	17.65	3.441054	0.63067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	6.07	6.07	0.98685	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);	.	.	.	.	D	0.93930	0.8057	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94923	0.8075	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	10053;10178;10245;17477	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16550;10053;10245;10178;10051	ENSP00000343764:G16550V;ENSP00000434586:G10053V;ENSP00000340554:G10245V;ENSP00000352154:G10178V	ENSP00000340554:G10245V	G	-	2	0	TTN	179170701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.885000	0.99019	0.655000	0.94253	GGA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	69	1	0	0.00198382	0.001984	0.0021157	7	69				
TTN	7273	broad.mit.edu	37	2	179543515	179543515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179543515G>T	ENST00000591111.1	-	141	33058	c.32834C>A	c.(32833-32835)cCa>cAa	p.P10945Q	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11262Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10018Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11716	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AACTGGTACTGGTACTTTCTC	0.368																																							uc010zfg.1		NA																	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.(30052-30054)CCA>CAA		titin isoform N2-A							106.0	102.0	103.0					2																	179543515		1841	4074	5915	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179543515G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32834C>A	2.37:g.179543515G>T	ENSP00000465570:p.Pro10945Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6679Q|TTN_uc010fre.1_Missense_Mutation_p.P675Q|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P10018Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		140	30277	-			10945					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.30053C>A		.	.	.	.	.	.	.	.	.	.	G	17.86	3.493417	0.64186	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.67523	-0.27;-0.27	5.8	5.8	0.92144	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.85164	0.5634	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.77004	0.9;0.989	D	0.86800	0.1991	9	0.87932	D	0	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	10945;10491	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Q	10018;686	ENSP00000343764:P10018Q;ENSP00000401501:P686Q	ENSP00000343764:P10018Q	P	-	2	0	TTN	179251760	0.974000	0.33945	1.000000	0.80357	0.946000	0.59487	2.908000	0.48750	2.732000	0.93576	0.650000	0.86243	CCA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	71	1	0	4.14922e-12	0.004007	5.95907e-12	15	71				
TTN	7273	broad.mit.edu	37	2	179599525	179599525	+	Silent	SNP	C	C	T	rs377193788		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179599525C>T	ENST00000591111.1	-	49	14399	c.14175G>A	c.(14173-14175)acG>acA	p.T4725T	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.T5042T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T3798T|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12105	Ig-like 27.				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)			CTTTTACATCCGTAATATCAA	0.373																																							uc010zfg.1		NA																	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.(11392-11394)ACG>ACA		titin isoform N2-A		C	,,,	0,3756		0,0,1878	129.0	124.0	126.0		,11394,,	0.1	0.1	2		126	1,8237		0,1,4118	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5996	TT,TC,CC		0.0121,0.0,0.0083	,,,	,3798/33424,,	179599525	1,11993	1878	4119	5997	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599525C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14175G>A	2.37:g.179599525C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T459T	p.T3798T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11618	-			4725					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.11394G>A																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	102	0	0	0	0.000978	0	12	102				
TTN	7273	broad.mit.edu	37	2	179639156	179639156	+	Missense_Mutation	SNP	G	G	T	rs143679901	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179639156G>T	ENST00000591111.1	-	30	7059	c.6835C>A	c.(6835-6837)Cca>Aca	p.P2279T	TTN_ENST00000589042.1_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P2233T|TTN_ENST00000460472.2_Missense_Mutation_p.P2233T|TTN_ENST00000342992.6_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P2279T|TTN_ENST00000342175.6_Missense_Mutation_p.P2233T			Q8WZ42	TITIN_HUMAN	titin	12602	Ig-like 12.				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)			TATGATTCTGGAACTTCTATG	0.348																																							uc010zfg.1		NA																	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.(6835-6837)CCA>ACA		titin isoform N2-A							69.0	69.0	69.0					2																	179639156		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639156G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6835C>A	2.37:g.179639156G>T	ENSP00000465570:p.Pro2279Thr					TTN_uc010zfh.1_Missense_Mutation_p.P2233T|TTN_uc010zfi.1_Missense_Mutation_p.P2233T|TTN_uc010zfj.1_Missense_Mutation_p.P2233T|TTN_uc002unb.2_Missense_Mutation_p.P2279T|uc002unc.1_5'Flank	p.P2279T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7059	-			2279					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.6835C>A		.	.	.	.	.	.	.	.	.	.	G	12.16	1.855394	0.32791	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.6	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58293	0.2112	N	0.05280	-0.08	0.38076	D	0.93652	D;D;D;D;D	0.64830	0.957;0.957;0.957;0.957;0.994	P;P;P;P;P	0.60886	0.783;0.783;0.783;0.783;0.88	T	0.71048	-0.4705	9	0.87932	D	0	.	14.7606	0.69604	0.0697:0.0:0.9303:0.0	.	2233;2233;2233;2279;2279	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2279;2233;2233;2233;2233;2279	ENSP00000343764:P2279T;ENSP00000434586:P2233T;ENSP00000340554:P2233T;ENSP00000352154:P2233T;ENSP00000354117:P2279T	ENSP00000340554:P2233T	P	-	1	0	TTN	179347401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.992000	0.88273	1.381000	0.46364	0.557000	0.71058	CCA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	67	1	0	8.12818e-05	0.001984	9.28583e-05	7	67				
TTN	7273	broad.mit.edu	37	2	179647564	179647564	+	Silent	SNP	G	G	C	rs371447978		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179647564G>C	ENST00000591111.1	-	18	3293	c.3069C>G	c.(3067-3069)acC>acG	p.T1023T	TTN_ENST00000589042.1_Silent_p.T1023T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T977T|TTN_ENST00000460472.2_Silent_p.T977T|TTN_ENST00000342992.6_Silent_p.T1023T|TTN_ENST00000360870.5_Silent_p.T1023T|TTN_ENST00000342175.6_Silent_p.T977T			Q8WZ42	TITIN_HUMAN	titin	32576	Ig-like 3.				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.T1023T(3)|p.T977T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGCTGACGGTTCCAGCCT	0.498																																							uc010zfg.1		NA																	6	Substitution - coding silent(6)		endometrium(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3067-3069)ACC>ACG		titin isoform N2-A							88.0	73.0	78.0					2																	179647564		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647564G>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.3069C>G	2.37:g.179647564G>C						TTN_uc010zfh.1_Silent_p.T977T|TTN_uc010zfi.1_Silent_p.T977T|TTN_uc010zfj.1_Silent_p.T977T|TTN_uc002unb.2_Silent_p.T1023T	p.T1023T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3293	-			1023					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.3069C>G																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	52	0	0	0	0.00308	0	8	52				
FAM171B	165215	broad.mit.edu	37	2	187558970	187558970	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:187558970C>G	ENST00000304698.5	+	1	273	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	24						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGAAAGCGCGGCTGGTCCC	0.662																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(70-72)CGG>GGG		KIAA1946							11.0	14.0	13.0					2																	187558970		2092	4120	6212	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187558970C>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.70C>G	2.37:g.187558970C>G	ENSP00000304108:p.Arg24Gly					FAM171B_uc002upr.1_Missense_Mutation_p.R24G	p.R24G	NM_177454	NP_803237	Q6P995	F171B_HUMAN			1	182	+			24					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.70C>G	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.141974	0.21205	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.50813	0.73	3.92	-0.749	0.11084	.	1.153980	0.06845	N	0.796420	T	0.33731	0.0873	N	0.19112	0.55	0.25876	N	0.983657	B	0.21520	0.057	B	0.19666	0.026	T	0.37526	-0.9702	10	0.59425	D	0.04	-2.457	10.6237	0.45495	0.6631:0.3369:0.0:0.0	.	24	Q6P995	F171B_HUMAN	G	24	ENSP00000304108:R24G	ENSP00000272804:R24G	R	+	1	2	FAM171B	187267215	0.981000	0.34729	0.983000	0.44433	0.138000	0.21146	0.262000	0.18460	-0.031000	0.13781	-0.312000	0.09012	CGG		0.662	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		4	18	0	0	0	0.009096	0	4	18				
DNAH7	56171	broad.mit.edu	37	2	196723505	196723505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:196723505C>A	ENST00000312428.6	-	43	7860	c.7760G>T	c.(7759-7761)aGa>aTa	p.R2587I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2587	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACTTCATATCTCTTTTTCAT	0.373																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(7759-7761)AGA>ATA		dynein, axonemal, heavy chain 7							135.0	125.0	128.0					2																	196723505		1863	4097	5960	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196723505C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7760G>T	2.37:g.196723505C>A	ENSP00000311273:p.Arg2587Ile						p.R2587I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			43	7861	-			2587			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7760G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590089	0.66105	.	.	ENSG00000118997	ENST00000312428	T	0.80909	-1.43	5.26	4.38	0.52667	Dynein heavy chain, coiled coil stalk (1);	0.054407	0.64402	D	0.000002	D	0.94098	0.8108	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95980	0.8977	10	0.87932	D	0	.	13.5034	0.61471	0.0:0.9245:0.0:0.0755	.	2587	Q8WXX0	DYH7_HUMAN	I	2587	ENSP00000311273:R2587I	ENSP00000311273:R2587I	R	-	2	0	DNAH7	196431750	0.993000	0.37304	0.496000	0.27539	0.428000	0.31595	5.666000	0.68059	1.440000	0.47531	0.650000	0.86243	AGA		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		24	103	1	0	6.36457e-07	0.003954	7.90591e-07	24	103				
PLCL1	5334	broad.mit.edu	37	2	198966032	198966032	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:198966032C>A	ENST00000428675.1	+	4	3341	c.2943C>A	c.(2941-2943)ctC>ctA	p.L981L	PLCL1_ENST00000437704.2_Silent_p.L883L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	981					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCGGTTTCTCATAGAAATGG	0.358																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2941-2943)CTC>CTA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						113.0	116.0	115.0					2																	198966032		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198966032C>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2943C>A	2.37:g.198966032C>A						PLCL1_uc002uuv.3_Silent_p.L902L	p.L981L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			4	3234	+			981					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2943C>A	CCDS2326.2																																																																																				0.358	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		19	108	1	0	2.37509e-13	0.010504	3.50454e-13	19	108				
SGOL2	151246	broad.mit.edu	37	2	201436296	201436296	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:201436296G>A	ENST00000357799.4	+	7	1325	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	409					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTGAAAAAAAGAGAGAAAGAT	0.328																																							uc002uvw.2		NA																	0				ovary(2)|skin(2)	4						c.(1225-1227)AAG>AAA		shugoshin-like 2 isoform 1							52.0	52.0	52.0					2																	201436296		1804	4066	5870	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436296G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1227G>A	2.37:g.201436296G>A						SGOL2_uc010zhd.1_Silent_p.K409K|SGOL2_uc010zhe.1_Silent_p.K409K	p.K409K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1340	+			409					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.1227G>A	CCDS42796.1																																																																																				0.328	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		6	59	0	0	0	0.00308	0	6	59				
FZD7	8324	broad.mit.edu	37	2	202900716	202900716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:202900716G>T	ENST00000286201.1	+	1	1407	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	449					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCTCTTCCGTATCCGCACC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002uyw.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1345-1347)CGT>CTT		frizzled 7 precursor							114.0	93.0	100.0					2																	202900716		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900716G>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1346G>T	2.37:g.202900716G>T	ENSP00000286201:p.Arg449Leu		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R449L	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1407	+			449			Cytoplasmic (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1346G>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773307	0.90108	.	.	ENSG00000155760	ENST00000286201	D	0.83335	-1.71	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93427	0.6782	10	0.87932	D	0	.	19.4726	0.94969	0.0:0.0:1.0:0.0	.	449	O75084	FZD7_HUMAN	L	449	ENSP00000286201:R449L	ENSP00000286201:R449L	R	+	2	0	FZD7	202608961	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.855000	0.99526	2.618000	0.88619	0.561000	0.74099	CGT		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		12	95	1	0	0.000219431	0.00245	0.000247311	12	95				
NRP2	8828	broad.mit.edu	37	2	206617582	206617582	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:206617582G>A	ENST00000357785.5	+	12	1958	c.1927G>A	c.(1927-1929)Gga>Aga	p.G643R	NRP2_ENST00000357118.4_Missense_Mutation_p.G643R|NRP2_ENST00000540841.1_Missense_Mutation_p.G643R|NRP2_ENST00000540178.1_Missense_Mutation_p.G643R|NRP2_ENST00000272849.3_Missense_Mutation_p.G643R|NRP2_ENST00000360409.3_Missense_Mutation_p.G643R|NRP2_ENST00000412873.2_Missense_Mutation_p.G643R			Q99435	NELL2_HUMAN	neuropilin 2	633	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTCCCTTCGGGATTCAATTG	0.488																																							uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1927-1929)GGA>AGA		neuropilin 2 isoform 1 precursor							62.0	59.0	60.0					2																	206617582		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206617582G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1927G>A	2.37:g.206617582G>A	ENSP00000350432:p.Gly643Arg					NRP2_uc002vau.2_Missense_Mutation_p.G643R|NRP2_uc002vav.2_Missense_Mutation_p.G643R|NRP2_uc002vax.2_Missense_Mutation_p.G643R|NRP2_uc002vay.2_Missense_Mutation_p.G643R	p.G643R	NM_201266	NP_957718	O60462	NRP2_HUMAN			12	2718	+			643			Extracellular (Potential).|MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1927G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852321	0.51270	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	0.370634	0.29624	N	0.011626	T	0.04998	0.0134	L	0.34521	1.04	0.80722	D	1	P;P;D;B;B	0.59767	0.529;0.529;0.986;0.029;0.065	B;B;P;B;B	0.54060	0.294;0.294;0.741;0.01;0.017	T	0.40646	-0.9552	10	0.72032	D	0.01	-11.0976	13.5293	0.61613	0.0803:0.0:0.9197:0.0	.	643;643;643;643;643	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	R	643	ENSP00000353582:G643R;ENSP00000439658:G643R;ENSP00000439261:G643R;ENSP00000349632:G643R;ENSP00000350432:G643R;ENSP00000407626:G643R;ENSP00000272849:G643R	ENSP00000272849:G643R	G	+	1	0	NRP2	206325827	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.772000	0.62324	2.698000	0.92095	0.561000	0.74099	GGA		0.488	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			11	36	0	0	0	0.008291	0	11	36				
CPO	130749	broad.mit.edu	37	2	207827201	207827201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:207827201G>T	ENST00000272852.3	+	7	686	c.640G>T	c.(640-642)Gag>Tag	p.E214*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	214						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTCTGAACCAGAGACTAAAGC	0.453																																							uc002vby.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(640-642)GAG>TAG		carboxypeptidase O precursor							195.0	188.0	191.0					2																	207827201		2203	4300	6503	SO:0001587	stop_gained	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827201G>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.640G>T	2.37:g.207827201G>T	ENSP00000272852:p.Glu214*						p.E214*	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	686	+			214					Q2M277|Q7RTW7	Nonsense_Mutation	SNP	ENST00000272852.3	37	c.640G>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504690	0.96371	.	.	ENSG00000144410	ENST00000272852	.	.	.	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9661	0.53035	0.0828:0.0:0.9172:0.0	.	.	.	.	X	214	.	ENSP00000272852:E214X	E	+	1	0	CPO	207535446	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.847000	0.92166	1.564000	0.49628	0.555000	0.69702	GAG		0.453	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		38	111	1	0	9.73076e-26	0.006999	1.64138e-25	38	111				
PLEKHM3	389072	broad.mit.edu	37	2	208841503	208841503	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:208841503G>C	ENST00000427836.2	-	3	1907	c.1418C>G	c.(1417-1419)cCc>cGc	p.P473R	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P473R|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P473R	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	473					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATCCTTGGGTTTGTTCCT	0.502																																							uc002vcl.2		NA																	0				ovary(1)	1						c.(1417-1419)CCC>CGC		pleckstrin homology domain containing, family M,							103.0	101.0	102.0					2																	208841503		2026	4198	6224	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841503G>C	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1418C>G	2.37:g.208841503G>C	ENSP00000417003:p.Pro473Arg					PLEKHM3_uc002vcm.2_Missense_Mutation_p.P473R	p.P473R	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			3	1908	-			473					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1418C>G	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	8.945	0.966859	0.18659	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.84589	-1.82;-1.83;-1.87	5.52	5.52	0.82312	.	0.295267	0.43260	D	0.000593	T	0.71307	0.3324	N	0.17082	0.46	0.44149	D	0.996945	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.003	T	0.64622	-0.6364	10	0.10636	T	0.68	.	11.1304	0.48343	0.0707:0.1301:0.7992:0.0	.	473;473	C9J119;Q6ZWE6	.;PKHM3_HUMAN	R	473	ENSP00000417003:P473R;ENSP00000373899:P473R;ENSP00000400150:P473R	ENSP00000373899:P473R	P	-	2	0	PLEKHM3	208549748	1.000000	0.71417	0.999000	0.59377	0.348000	0.29142	5.916000	0.69981	2.752000	0.94435	0.655000	0.94253	CCC		0.502	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		7	43	0	0	0	0.001984	0	7	43				
MAP2	4133	broad.mit.edu	37	2	210558713	210558713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:210558713G>A	ENST00000360351.4	+	7	2325	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	MAP2_ENST00000447185.1_Missense_Mutation_p.D603N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	607					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)			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)	TGAGTCTATTGATACCATGTC	0.438																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1819-1821)GAT>AAT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						78.0	74.0	76.0					2																	210558713		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.chr2:210558713G>A		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.1819G>A	2.37:g.210558713G>A	ENSP00000353508:p.Asp607Asn					MAP2_uc002vdc.1_Missense_Mutation_p.D607N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D603N	p.D607N	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2067	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	607					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1819G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502229	0.44455	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26810	1.71;1.71	6.16	6.16	0.99307	MAP2/Tau projection (1);	0.277119	0.31624	N	0.007331	T	0.34366	0.0895	L	0.50333	1.59	0.35807	D	0.823614	B;P	0.35493	0.449;0.505	B;B	0.43990	0.311;0.438	T	0.39461	-0.9613	10	0.72032	D	0.01	-10.8819	14.5346	0.67950	0.0:0.1865:0.8135:0.0	.	603;607	P11137-3;P11137	.;MAP2_HUMAN	N	607;603	ENSP00000353508:D607N;ENSP00000392164:D603N	ENSP00000353508:D607N	D	+	1	0	MAP2	210266958	1.000000	0.71417	0.921000	0.36526	0.647000	0.38526	4.220000	0.58567	2.937000	0.99478	0.650000	0.86243	GAT		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		18	67	0	0	0	0.006122	0	18	67				
ERBB4	2066	broad.mit.edu	37	2	212426632	212426632	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:212426632G>T	ENST00000342788.4	-	20	2793	c.2483C>A	c.(2482-2484)gCt>gAt	p.A828D	ERBB4_ENST00000436443.1_Missense_Mutation_p.A828D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A818D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	828	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACTTACCTTAGCTATCTGGAC	0.393										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2482-2484)GCT>GAT		v-erb-a erythroblastic leukemia viral oncogene							121.0	116.0	118.0					2																	212426632		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426632G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2483C>A	2.37:g.212426632G>T	ENSP00000342235:p.Ala828Asp	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.A828D|ERBB4_uc010zji.1_Missense_Mutation_p.A818D|ERBB4_uc010zjj.1_Missense_Mutation_p.A818D|ERBB4_uc010fut.1_Missense_Mutation_p.A828D	p.A828D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2581	-		Renal(323;0.06)|Lung NSC(271;0.197)	828			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2483C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915435	0.92178	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.90197	-2.63;-2.63;-2.63	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.992;0.996	D	0.99686	1.1000	10	0.87932	D	0	.	18.625	0.91334	0.0:0.0:1.0:0.0	.	818;818;828;828	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	828;828;818	ENSP00000342235:A828D;ENSP00000403204:A828D;ENSP00000385565:A818D	ENSP00000342235:A828D	A	-	2	0	ERBB4	212134877	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.462000	0.83206	0.655000	0.94253	GCT		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		13	87	1	0	0.00136819	0.001368	0.00146954	13	87				
STK36	27148	broad.mit.edu	37	2	219563383	219563383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:219563383G>T	ENST00000295709.3	+	26	3395	c.3116G>T	c.(3115-3117)cGc>cTc	p.R1039L	STK36_ENST00000392105.3_Missense_Mutation_p.R1018L|STK36_ENST00000392106.2_Missense_Mutation_p.R1018L|STK36_ENST00000440309.1_Missense_Mutation_p.R1039L	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCTCACACGCCTGGCCCTC	0.537																																							uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(3115-3117)CGC>CTC		serine/threonine kinase 36							215.0	187.0	196.0					2																	219563383		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563383G>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3116G>T	2.37:g.219563383G>T	ENSP00000295709:p.Arg1039Leu					STK36_uc002viv.2_Missense_Mutation_p.R1018L|STK36_uc002viw.2_Missense_Mutation_p.R217L|STK36_uc002vix.2_Missense_Mutation_p.R84L	p.R1039L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3382	+		Renal(207;0.0915)	1039						Missense_Mutation	SNP	ENST00000295709.3	37	c.3116G>T	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.688232|2.688232	0.48097|0.48097	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.75154	.|-0.9;-0.91;-0.14;-0.9	6.06|6.06	0.234|0.234	0.15390|0.15390	.|.	.|0.691003	.|0.12632	.|N	.|0.452119	T|T	0.67646|0.67646	0.2915|0.2915	L|L	0.32530|0.32530	0.975|0.975	0.41491|0.41491	D|D	0.988224|0.988224	.|P;P;D	.|0.53619	.|0.808;0.87;0.961	.|B;P;P	.|0.47744	.|0.376;0.482;0.556	T|T	0.63712|0.63712	-0.6575|-0.6575	5|10	.|0.52906	.|T	.|0.07	-3.789|-3.789	10.9776|10.9776	0.47475|0.47475	0.4126:0.0:0.5874:0.0|0.4126:0.0:0.5874:0.0	.|.	.|1018;1018;1039	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	S|L	232|1039;1018;1018;1039	.|ENSP00000295709:R1039L;ENSP00000375955:R1018L;ENSP00000375954:R1018L;ENSP00000394095:R1039L	.|ENSP00000295709:R1039L	A|R	+|+	1|2	0|0	STK36|STK36	219271627|219271627	0.979000|0.979000	0.34478|0.34478	0.911000|0.911000	0.35937|0.35937	0.353000|0.353000	0.29299|0.29299	0.319000|0.319000	0.19522|0.19522	-0.235000|-0.235000	0.09767|0.09767	-0.150000|-0.150000	0.13652|0.13652	GCC|CGC		0.537	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			54	190	1	0	5.22555e-25	0.00361	8.77521e-25	54	190				
WNT10A	80326	broad.mit.edu	37	2	219754997	219754997	+	Missense_Mutation	SNP	G	G	T	rs143424659		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:219754997G>T	ENST00000258411.3	+	3	1301	c.668G>T	c.(667-669)cGc>cTc	p.R223L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	223					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCGGGGAGCGCTTTTCTAAG	0.647																																							uc002vjd.1		NA																	0				lung(1)|skin(1)	2						c.(667-669)CGC>CTC		wingless-type MMTV integration site family,							27.0	33.0	31.0					2																	219754997		2202	4300	6502	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219754997G>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.668G>T	2.37:g.219754997G>T	ENSP00000258411:p.Arg223Leu						p.R223L	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1131	+		Renal(207;0.0474)	223					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.668G>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031860	0.75504	.	.	ENSG00000135925	ENST00000258411	T	0.76968	-1.06	4.46	4.46	0.54185	.	0.114744	0.51477	D	0.000084	T	0.74906	0.3778	M	0.66297	2.02	0.44366	D	0.997262	B	0.22746	0.074	B	0.30105	0.111	T	0.71790	-0.4486	10	0.37606	T	0.19	.	10.0657	0.42301	0.1031:0.0:0.8969:0.0	.	223	Q9GZT5	WN10A_HUMAN	L	223	ENSP00000258411:R223L	ENSP00000258411:R223L	R	+	2	0	WNT10A	219463241	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.354000	0.44098	2.478000	0.83669	0.655000	0.94253	CGC		0.647	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		9	31	1	0	7.48243e-07	0.006214	9.21855e-07	9	31				
SCG2	7857	broad.mit.edu	37	2	224462640	224462640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:224462640G>T	ENST00000305409.2	-	2	1593	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATATGGATTGGGAAAATACGA	0.478																																							uc002vnm.2		NA																	0				ovary(1)	1						c.(1360-1362)CCC>CAC		secretogranin II precursor							108.0	109.0	108.0					2																	224462640		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462640G>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1361C>A	2.37:g.224462640G>T	ENSP00000304133:p.Pro454His						p.P454H	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1494	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	454					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1361C>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	2.517	-0.311545	0.05422	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01725	4.67	5.86	3.97	0.46021	.	0.774806	0.11818	N	0.526522	T	0.02848	0.0085	L	0.36672	1.1	0.09310	N	1	P	0.37612	0.602	P	0.47626	0.552	T	0.48222	-0.9054	10	0.36615	T	0.2	.	3.7561	0.08586	0.2805:0.1894:0.5301:0.0	.	454	P13521	SCG2_HUMAN	H	454;314	ENSP00000304133:P454H	ENSP00000304133:P454H	P	-	2	0	SCG2	224170884	0.204000	0.23447	0.447000	0.26932	0.149000	0.21700	3.052000	0.49893	1.490000	0.48466	0.650000	0.86243	CCC		0.478	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		22	122	1	0	1.96292e-10	0.010504	2.72568e-10	22	122				
RHBDD1	84236	broad.mit.edu	37	2	227729482	227729482	+	Missense_Mutation	SNP	A	A	T	rs147490611		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:227729482A>T	ENST00000341329.3	+	2	315	c.73A>T	c.(73-75)Aac>Tac	p.N25Y	RHBDD1_ENST00000392062.2_Missense_Mutation_p.N25Y	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	25					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGTTGGGATCAACAATATTCC	0.458																																							uc002voi.2		NA																	0				ovary(1)	1						c.(73-75)AAC>TAC		rhomboid domain containing 1							179.0	165.0	170.0					2																	227729482		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729482A>T	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.73A>T	2.37:g.227729482A>T	ENSP00000344779:p.Asn25Tyr					RHBDD1_uc010fxc.2_Missense_Mutation_p.N25Y	p.N25Y	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	2	194	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	25			Helical; (Potential).		Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.73A>T	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899291	0.52227	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000437454;ENST00000423616;ENST00000448992;ENST00000436481	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;2.8	6.04	4.9	0.64082	.	0.347898	0.36932	N	0.002334	T	0.27349	0.0671	L	0.47716	1.5	0.32207	N	0.576994	P;P	0.40266	0.528;0.71	B;B	0.39531	0.08;0.302	T	0.42327	-0.9458	10	0.66056	D	0.02	-12.2152	8.1442	0.31102	0.6958:0.2345:0.0697:0.0	.	25;25	C9K011;Q8TEB9	.;RHBD1_HUMAN	Y	25	ENSP00000400765:N25Y;ENSP00000344779:N25Y;ENSP00000375914:N25Y;ENSP00000399694:N25Y;ENSP00000388847:N25Y	ENSP00000344779:N25Y	N	+	1	0	RHBDD1	227437726	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	1.671000	0.37513	1.114000	0.41781	0.460000	0.39030	AAC		0.458	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			36	152	0	0	0	0.004289	0	36	152				
CHRND	1144	broad.mit.edu	37	2	233398942	233398942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:233398942C>T	ENST00000258385.3	+	11	1293	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	CHRND_ENST00000543200.1_Missense_Mutation_p.P406S|CHRND_ENST00000457943.2_Missense_Mutation_p.P227S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	421					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AGGCCGGCCCCCAGCAAGCTC	0.602																																							uc002vsw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1261-1263)CCA>TCA		nicotinic acetylcholine receptor delta							46.0	50.0	49.0					2																	233398942		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398942C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1261C>T	2.37:g.233398942C>T	ENSP00000258385:p.Pro421Ser					CHRND_uc010zmg.1_Missense_Mutation_p.P406S|CHRND_uc010fyc.2_Missense_Mutation_p.P294S|CHRND_uc010zmh.1_Missense_Mutation_p.P227S	p.P421S	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	11	1265	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	421			Cytoplasmic (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1261C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.161764	0.38217	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.84442	-1.85;-1.85;-1.85	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.975892	0.08180	U	0.985601	T	0.79088	0.4387	L	0.31065	0.9	0.46874	D	0.99923	P;P;B;B	0.45126	0.851;0.493;0.254;0.254	B;B;B;B	0.42138	0.377;0.144;0.144;0.144	T	0.69457	-0.5140	10	0.06891	T	0.86	.	14.7475	0.69499	0.0:1.0:0.0:0.0	.	227;406;421;421	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	S	406;421;227	ENSP00000438380:P406S;ENSP00000258385:P421S;ENSP00000391055:P227S	ENSP00000258385:P421S	P	+	1	0	CHRND	233107186	0.864000	0.29904	0.994000	0.49952	0.843000	0.47879	3.424000	0.52764	2.547000	0.85894	0.457000	0.33378	CCA		0.602	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			14	55	0	0	0	0.003163	0	14	55				
CHRNG	1146	broad.mit.edu	37	2	233406100	233406100	+	Missense_Mutation	SNP	G	G	A	rs199937736		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:233406100G>A	ENST00000389494.3	+	5	388	c.367G>A	c.(367-369)Gag>Aag	p.E123K	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	123					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.E123K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CGGTGTCTTCGAGGTGGCCCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14292	0.0		0.0	False		,,,				2504	0.001						uc002vsx.1		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(367-369)GAG>AAG		cholinergic receptor, nicotinic, gamma		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	231.0	183.0	200.0		367	5.2	1.0	2		200	0,8600		0,0,4300	no	missense	CHRNG	NM_005199.4	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	123/518	233406100	1,13005	2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233406100G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.367G>A	2.37:g.233406100G>A	ENSP00000374145:p.Glu123Lys					CHRNG_uc010fyd.2_Missense_Mutation_p.E123K|CHRNG_uc010fye.1_Intron	p.E123K	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	5	388	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	123			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.367G>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596080	0.86953	2.27E-4	0.0	ENSG00000196811	ENST00000389494;ENST00000541596	T	0.77877	-1.13	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel ligand-binding (3);	0.189716	0.45606	D	0.000348	T	0.77585	0.4152	M	0.69248	2.105	0.80722	D	1	P	0.42161	0.772	B	0.38458	0.274	T	0.81642	-0.0840	10	0.66056	D	0.02	.	18.6433	0.91402	0.0:0.0:1.0:0.0	.	123	P07510	ACHG_HUMAN	K	123	ENSP00000374145:E123K	ENSP00000374145:E123K	E	+	1	0	CHRNG	233114344	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.824000	0.99380	2.419000	0.82065	0.462000	0.41574	GAG		0.637	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		13	123	0	0	0	0.003163	0	13	123				
UGT1A10	54575	broad.mit.edu	37	2	234545480	234545480	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:234545480T>C	ENST00000344644.5	+	1	381	c.312T>C	c.(310-312)agT>agC	p.S104S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.S104S	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	104					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	AGGCACAAAGTATATTTTCTC	0.378																																							uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(310-312)AGT>AGC		UDP glycosyltransferase 1 family, polypeptide							91.0	95.0	94.0					2																	234545480		2203	4300	6503	SO:0001819	synonymous_variant	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545480T>C	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.312T>C	2.37:g.234545480T>C						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.S104S	p.S104S	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	358	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	104					O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.312T>C	CCDS33403.1																																																																																				0.378	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		24	115	0	0	0	0.002299	0	24	115				
COL6A3	1293	broad.mit.edu	37	2	238283178	238283178	+	Missense_Mutation	SNP	C	C	T	rs144976132		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238283178C>T	ENST00000295550.4	-	8	4008	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	COL6A3_ENST00000346358.4_Missense_Mutation_p.V986M|COL6A3_ENST00000392003.2_Missense_Mutation_p.V779M|COL6A3_ENST00000392004.3_Missense_Mutation_p.V980M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V985M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V980M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V579M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V980M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1186	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAATGGCCACGGCAAAGTCC	0.622																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3556-3558)GTG>ATG		alpha 3 type VI collagen isoform 1 precursor		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	88.0	70.0	76.0		3556,2335,2938,1735,2938	1.9	0.6	2	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	21,21,21,21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1186/3178,779/1037,980/1238,579/2571,980/2972	238283178	2,13004	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283178C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3556G>A	2.37:g.238283178C>T	ENSP00000295550:p.Val1186Met					COL6A3_uc002vwo.2_Missense_Mutation_p.V980M|COL6A3_uc010znj.1_Missense_Mutation_p.V579M|COL6A3_uc002vwq.2_Missense_Mutation_p.V980M|COL6A3_uc002vwr.2_Missense_Mutation_p.V779M	p.V1186M	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3841	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1186			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3556G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103964	0.37145	4.54E-4	0.0	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.97	1.94	0.25998	von Willebrand factor, type A (3);	0.523692	0.16074	N	0.230866	T	0.81597	0.4856	N	0.25332	0.735	0.09310	N	1	D;D;D;D;P	0.76494	0.999;0.984;0.984;0.999;0.476	D;P;P;D;B	0.70935	0.971;0.843;0.891;0.933;0.084	T	0.68454	-0.5404	10	0.52906	T	0.07	.	5.0047	0.14282	0.4063:0.4295:0.0:0.1642	.	579;779;980;980;1186	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	M	1186;985;980;579;980;986;980;779	ENSP00000295550:V1186M;ENSP00000315609:V985M;ENSP00000315873:V980M;ENSP00000418285:V579M;ENSP00000386844:V980M;ENSP00000295546:V986M;ENSP00000375861:V980M;ENSP00000375860:V779M	ENSP00000295550:V1186M	V	-	1	0	COL6A3	237947917	0.122000	0.22280	0.636000	0.29352	0.609000	0.37215	0.742000	0.26216	0.607000	0.29982	0.655000	0.94253	GTG		0.622	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	52	0	0	0	0.00308	0	7	52				
RBM44	375316	broad.mit.edu	37	2	238725845	238725845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238725845C>T	ENST00000409864.1	+	3	540	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Nonsense_Mutation_p.Q96*			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	95						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACTCAGTTTCAGTCAAGTGA	0.318																																							uc002vxi.3		NA																	0				ovary(4)	4						c.(286-288)CAG>TAG		RNA binding motif protein 44							55.0	55.0	55.0					2																	238725845		1833	4074	5907	SO:0001587	stop_gained	375316						nucleotide binding|RNA binding	g.chr2:238725845C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.286C>T	2.37:g.238725845C>T	ENSP00000386727:p.Gln96*						p.Q96*	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	418	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	95					A0AUW3	Nonsense_Mutation	SNP	ENST00000409864.1	37	c.286C>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699145	0.68501	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	5.1	5.1	0.69264	.	0.387023	0.22206	N	0.063174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.3757	13.8816	0.63686	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000321179:Q96X	Q	+	1	0	RBM44	238390584	0.017000	0.18338	0.923000	0.36655	0.037000	0.13140	1.091000	0.30915	2.650000	0.89964	0.563000	0.77884	CAG		0.318	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		16	47	0	0	0	0.003163	0	16	47				
RBM44	375316	broad.mit.edu	37	2	238727007	238727007	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238727007G>A	ENST00000409864.1	+	3	1702	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.R483K			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	482						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAACCAGCAGGGCAACAAGT	0.388																																							uc002vxi.3		NA																	0				ovary(4)	4						c.(1447-1449)AGG>AAG		RNA binding motif protein 44							96.0	89.0	91.0					2																	238727007		1934	4143	6077	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727007G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1448G>A	2.37:g.238727007G>A	ENSP00000386727:p.Arg483Lys						p.R483K	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1580	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	482					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1448G>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631654	0.67015	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.55760	0.5;0.5	5.86	5.86	0.93980	.	0.090781	0.47455	D	0.000240	T	0.70527	0.3234	M	0.67953	2.075	0.27281	N	0.958103	D	0.76494	0.999	D	0.78314	0.991	T	0.64106	-0.6485	10	0.37606	T	0.19	-19.3605	16.9051	0.86124	0.0:0.0:1.0:0.0	.	482	Q6ZP01	RBM44_HUMAN	K	483	ENSP00000321179:R483K;ENSP00000386727:R483K	ENSP00000321179:R483K	R	+	2	0	RBM44	238391746	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	3.143000	0.50608	2.777000	0.95525	0.591000	0.81541	AGG		0.388	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		5	54	0	0	0	0.000602	0	5	54				
PRR21	643905	broad.mit.edu	37	2	240982154	240982154	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:240982154G>C	ENST00000408934.1	-	1	245	c.246C>G	c.(244-246)ctC>ctG	p.L82L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	82	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGTGGGTGAAGAGCCGTGGAT	0.612																																							uc010zod.1		NA																	0				ovary(1)|skin(1)	2						c.(244-246)CTC>CTG		proline rich 21							155.0	150.0	152.0					2																	240982154		2170	4267	6437	SO:0001819	synonymous_variant	643905							g.chr2:240982154G>C	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.246C>G	2.37:g.240982154G>C							p.L82L	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	246	-			82			Pro-rich.			Silent	SNP	ENST00000408934.1	37	c.246C>G	CCDS33417.1																																																																																				0.612	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		16	83	0	0	0	0.007413	0	16	83				
GPR35	2859	broad.mit.edu	37	2	241569824	241569824	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:241569824G>T	ENST00000319838.5	+	6	1397	c.455G>T	c.(454-456)tGg>tTg	p.W152L	GPR35_ENST00000407714.1_Missense_Mutation_p.W152L|GPR35_ENST00000430267.1_Missense_Mutation_p.W152L|GPR35_ENST00000403859.1_Missense_Mutation_p.W152L|GPR35_ENST00000438013.2_Missense_Mutation_p.W183L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	152					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCTCGCTGGCTCCTGGGG	0.701																																							uc002vzs.1		NA																	0				skin(2)|pancreas(1)	3						c.(454-456)TGG>TTG		G protein-coupled receptor 35							24.0	27.0	26.0					2																	241569824		2032	4027	6059	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569824G>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.455G>T	2.37:g.241569824G>T	ENSP00000322731:p.Trp152Leu					GPR35_uc010fzh.1_Missense_Mutation_p.W183L|GPR35_uc010fzi.1_Missense_Mutation_p.W183L	p.W152L	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	1	1030	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	152			Helical; Name=4; (Potential).		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.455G>T	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	0.244	-1.011732	0.02095	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.01	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	1.568050	0.03421	N	0.206295	T	0.18087	0.0434	N	0.11724	0.165	0.09310	N	0.999997	B;B;B	0.14438	0.007;0.01;0.002	B;B;B	0.21151	0.006;0.033;0.005	T	0.19418	-1.0306	10	0.08179	T	0.78	-9.4788	8.2502	0.31712	0.0:0.0:0.5672:0.4328	.	237;183;152	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	L	152;152;183;152;152	ENSP00000322731:W152L;ENSP00000385140:W152L;ENSP00000415890:W183L;ENSP00000384263:W152L;ENSP00000411788:W152L	ENSP00000322731:W152L	W	+	2	0	GPR35	241218497	0.000000	0.05858	0.531000	0.27976	0.095000	0.18619	-0.512000	0.06313	0.995000	0.38917	0.455000	0.32223	TGG		0.701	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		6	44	1	0	0.00198382	0.001984	0.0021157	6	44				
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A	rs369276882		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547																																					Melanoma(158;1891 3343 50738)	Melanoma(158;1891 3343 50738)	uc002wld.2		NA																	3	Substitution - Missense(3)	p.R194H(1)	lung(2)|ovary(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(580-582)CGC>CTC		Ras association domain family 2							160.0	139.0	146.0					20																	4770300		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770300C>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.581G>T	20.37:g.4770300C>A	ENSP00000368710:p.Arg194Leu					RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R194L|RASSF2_uc010gbh.2_5'Flank	p.R194L	NM_170774	NP_739580	P50749	RASF2_HUMAN			7	635	-			194			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.581G>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165634	0.94768	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16073	2.37;2.37	5.04	5.04	0.67666	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57522	-0.7797	10	0.62326	D	0.03	.	17.1313	0.86727	0.0:1.0:0.0:0.0	.	194	P50749	RASF2_HUMAN	L	194	ENSP00000368710:R194L;ENSP00000368684:R194L	ENSP00000368684:R194L	R	-	2	0	RASSF2	4718300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.622000	0.88805	0.655000	0.94253	CGC		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		11	58	1	0	3.07112e-06	0.000978	3.69318e-06	11	58				
PROKR2	128674	broad.mit.edu	37	20	5294979	5294979	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:5294979T>G	ENST00000217270.3	-	1	36	c.37A>C	c.(37-39)Aac>Cac	p.N13H	PROKR2_ENST00000546004.1_Missense_Mutation_p.N13H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	13					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGATTAAAGTTGGGTGTGAAA	0.512										HNSCC(71;0.22)																													uc010zqw.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(37-39)AAC>CAC		prokineticin receptor 2							85.0	77.0	80.0					20																	5294979		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294979T>G	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.37A>C	20.37:g.5294979T>G	ENSP00000217270:p.Asn13His	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.N13H|PROKR2_uc010zqy.1_Missense_Mutation_p.N13H|uc002wly.1_5'Flank	p.N13H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	37	-			13			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.37A>C	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	T	3.612	-0.079342	0.07141	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.70749	-0.51;-0.51	4.72	2.26	0.28386	.	0.656003	0.15005	N	0.285873	T	0.51787	0.1695	L	0.36672	1.1	0.09310	N	1	B	0.31859	0.343	B	0.29716	0.106	T	0.28650	-1.0037	10	0.16420	T	0.52	.	3.9991	0.09572	0.0:0.1148:0.2143:0.6709	.	13	Q8NFJ6	PKR2_HUMAN	H	13	ENSP00000440790:N13H;ENSP00000217270:N13H	ENSP00000217270:N13H	N	-	1	0	PROKR2	5242979	0.081000	0.21417	0.482000	0.27366	0.915000	0.54546	0.982000	0.29539	0.785000	0.33685	0.533000	0.62120	AAC		0.512	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		16	67	0	0	0	0.00499	0	16	67				
PLCB1	23236	broad.mit.edu	37	20	8609055	8609055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:8609055G>T	ENST00000338037.6	+	4	388	c.361G>T	c.(361-363)Gct>Tct	p.A121S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A121S|PLCB1_ENST00000378641.3_Missense_Mutation_p.A121S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	121					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAATCTCGTGGCTTTCCAAGA	0.473																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(361-363)GCT>TCT		phosphoinositide-specific phospholipase C beta 1							130.0	114.0	120.0					20																	8609055		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8609055G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.361G>T	20.37:g.8609055G>T	ENSP00000338185:p.Ala121Ser					PLCB1_uc010zrb.1_Missense_Mutation_p.A20S|PLCB1_uc010gbv.1_Missense_Mutation_p.A121S|PLCB1_uc002wmz.1_Missense_Mutation_p.A121S|PLCB1_uc002wna.2_Missense_Mutation_p.A121S|PLCB1_uc002wnc.1_Missense_Mutation_p.A20S	p.A121S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			4	364	+			121					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.361G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583398	0.46006	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.17	6.17	0.99709	.	0.090685	0.85682	D	0.000000	T	0.66327	0.2778	L	0.39633	1.23	0.58432	D	0.999993	P;P;D;D	0.89917	0.876;0.938;1.0;0.968	B;P;D;D	0.87578	0.338;0.719;0.998;0.988	T	0.58405	-0.7642	10	0.31617	T	0.26	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	20;121;121;120	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	S	121;121;121;120;41;41	ENSP00000367908:A121S;ENSP00000338185:A121S;ENSP00000367904:A121S;ENSP00000384001:A120S	ENSP00000338185:A121S	A	+	1	0	PLCB1	8557055	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.800000	0.85949	2.941000	0.99782	0.655000	0.94253	GCT		0.473	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			24	90	1	0	7.38237e-10	0.00632	1.00113e-09	24	90				
NDUFAF5	79133	broad.mit.edu	37	20	13782241	13782241	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:13782241G>T	ENST00000378106.5	+	7	748	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NDUFAF5_ENST00000463598.1_Missense_Mutation_p.G182V|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	210					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										GAAAGGGAAGGAGGATTTTCT	0.448																																							uc002wom.2		NA																	0					0						c.(628-630)GGA>GTA		hypothetical protein LOC79133 isoform 1							124.0	116.0	119.0					20																	13782241		2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13782241G>T		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.629G>T	20.37:g.13782241G>T	ENSP00000367346:p.Gly210Val					C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.G182V|C20orf7_uc002woo.2_RNA	p.G210V	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			7	662	+		Myeloproliferative disorder(85;0.00878)	210					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.629G>T	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797160	0.90538	.	.	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	D;D	0.88664	-2.41;-2.41	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97864	1.0282	10	0.87932	D	0	-17.0029	19.3518	0.94392	0.0:0.0:1.0:0.0	.	182;210	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	V	210;210;182	ENSP00000367346:G210V;ENSP00000420497:G182V	ENSP00000437325:G210V	G	+	2	0	C20orf7	13730241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.138000	0.94501	2.571000	0.86741	0.650000	0.86243	GGA		0.448	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		18	50	1	0	3.41278e-10	0.00499	4.68714e-10	18	50				
CST2	1470	broad.mit.edu	37	20	23805878	23805878	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:23805878C>T	ENST00000304725.2	-	2	381	c.311G>A	c.(310-312)tGt>tAt	p.C104Y		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	104					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						ATGGAAGGCACAGGTGTCCAA	0.547																																					Pancreas(193;496 3017 22514 29918)	Pancreas(193;496 3017 22514 29918)	uc002wtq.1		NA																	0					0						c.(310-312)TGT>TAT		cystatin SA precursor							347.0	254.0	286.0					20																	23805878		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23805878C>T	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.311G>A	20.37:g.23805878C>T	ENSP00000307540:p.Cys104Tyr						p.C104Y	NM_001322	NP_001313	P09228	CYTT_HUMAN			2	326	-			104					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.311G>A	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031529	0.54790	.	.	ENSG00000170369	ENST00000304725	T	0.77229	-1.08	2.36	2.36	0.29203	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	U	0.000000	D	0.89511	0.6736	H	0.95260	3.645	0.25971	N	0.982509	D	0.89917	1.0	D	0.97110	1.0	T	0.80344	-0.1422	10	0.87932	D	0	.	8.2645	0.31806	0.0:1.0:0.0:0.0	.	104	P09228	CYTT_HUMAN	Y	104	ENSP00000307540:C104Y	ENSP00000307540:C104Y	C	-	2	0	CST2	23753878	0.950000	0.32346	0.095000	0.20976	0.687000	0.40016	2.469000	0.45110	1.321000	0.45227	0.306000	0.20318	TGT		0.547	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			15	216	0	0	0	0.004007	0	15	216				
TLDC2	140711	broad.mit.edu	37	20	35515916	35515916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:35515916T>C	ENST00000217320.3	+	5	541	c.497T>C	c.(496-498)aTg>aCg	p.M166T	TLDC2_ENST00000602922.1_Missense_Mutation_p.M166T	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	166	TLD.																GATTCACTGATGATGGGCAGT	0.542											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002xgg.1		NA																	0					0						c.(496-498)ATG>ACG		hypothetical protein LOC140711							144.0	133.0	137.0					20																	35515916		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35515916T>C	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.497T>C	20.37:g.35515916T>C	ENSP00000217320:p.Met166Thr		OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	855		p.M166T	NM_080628	NP_542195	A0PJX2	CT118_HUMAN			5	505	+		Myeloproliferative disorder(115;0.00874)	166			TLD.		B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.497T>C	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	T	9.862	1.196597	0.22037	.	.	ENSG00000101342	ENST00000217320;ENST00000436941	T	0.39997	1.05	5.25	4.16	0.48862	TLDc (2);	0.265095	0.43579	D	0.000545	T	0.20047	0.0482	N	0.08118	0	0.32454	N	0.545048	B	0.11235	0.004	B	0.04013	0.001	T	0.12915	-1.0529	10	0.27082	T	0.32	-23.3986	7.1593	0.25654	0.0:0.1657:0.0:0.8343	.	166	A0PJX2	CT118_HUMAN	T	166;20	ENSP00000217320:M166T	ENSP00000217320:M166T	M	+	2	0	C20orf118	34949330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.777000	0.47717	1.984000	0.57885	0.459000	0.35465	ATG		0.542	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		6	111	0	0	0	0.001984	0	6	111				
TOX2	84969	broad.mit.edu	37	20	42635233	42635233	+	Missense_Mutation	SNP	C	C	A	rs541712879		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42635233C>A	ENST00000358131.5	+	3	447	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	TOX2_ENST00000372999.1_Missense_Mutation_p.P29Q|TOX2_ENST00000341197.4_Missense_Mutation_p.P71Q|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000423191.2_Missense_Mutation_p.P29Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATCCCCCCGATAACACCT	0.587																																							uc002xlf.3		NA																	0				ovary(1)	1						c.(238-240)CCG>CAG		TOX high mobility group box family member 2							179.0	144.0	156.0					20																	42635233		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635233C>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.239C>A	20.37:g.42635233C>A	ENSP00000350849:p.Pro80Gln					TOX2_uc010ggo.2_Missense_Mutation_p.P71Q|TOX2_uc002xle.3_Missense_Mutation_p.P29Q|TOX2_uc010ggp.2_Missense_Mutation_p.P29Q|TOX2_uc002xlg.2_Missense_Mutation_p.P29Q	p.P80Q	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	256	+		Myeloproliferative disorder(115;0.00452)	80			Required for transcriptional activation (By similarity).		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.239C>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830378	0.91036	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.24	5.24	0.73138	.	0.206157	0.52532	D	0.000074	T	0.49201	0.1543	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.49707	-0.8911	10	0.87932	D	0	.	17.3939	0.87439	0.0:1.0:0.0:0.0	.	71;29;80;29	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	Q	71;29;29;29;80	ENSP00000344724:P71Q;ENSP00000396584:P29Q;ENSP00000390278:P29Q;ENSP00000362090:P29Q;ENSP00000350849:P80Q	ENSP00000344724:P71Q	P	+	2	0	TOX2	42068647	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.463000	0.80869	2.444000	0.82710	0.655000	0.94253	CCG		0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			22	110	1	0	1.28384e-07	0.001882	1.6407e-07	22	110				
OSER1	51526	broad.mit.edu	37	20	42825709	42825709	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42825709C>G	ENST00000372970.2	-	6	1042	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	OSER1_ENST00000255174.2_Missense_Mutation_p.E288Q			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	288					cellular response to hydrogen peroxide (GO:0070301)												TACATCATTTCTGCCATGTGG	0.418																																							uc002xlk.2		NA																	0					0						c.(862-864)GAA>CAA		oxidative stress responsive 1							90.0	90.0	90.0					20																	42825709		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42825709C>G	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.862G>C	20.37:g.42825709C>G	ENSP00000362061:p.Glu288Gln						p.E288Q	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	999	-		Myeloproliferative disorder(115;0.028)	288					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.862G>C	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676734	0.88445	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.74947	-0.89;-0.89	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85041	0.0923	10	0.87932	D	0	-16.751	20.8794	0.99867	0.0:1.0:0.0:0.0	.	288	Q9NX31	CT111_HUMAN	Q	288	ENSP00000255174:E288Q;ENSP00000362061:E288Q	ENSP00000255174:E288Q	E	-	1	0	C20orf111	42259123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.941000	0.99782	0.655000	0.94253	GAA		0.418	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		27	87	0	0	0	0.007291	0	27	87				
R3HDML	140902	broad.mit.edu	37	20	42972100	42972100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42972100C>A	ENST00000217043.2	+	3	636	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	155	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GACTGTAACCCACACTGCCCC	0.622																																							uc002xls.1		NA																	0					0						c.(463-465)CCA>CAA		R3H domain containing-like precursor							105.0	74.0	84.0					20																	42972100		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42972100C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.464C>A	20.37:g.42972100C>A	ENSP00000217043:p.Pro155Gln						p.P155Q	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	636	+		Myeloproliferative disorder(115;0.028)	155						Missense_Mutation	SNP	ENST00000217043.2	37	c.464C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365366	0.41902	.	.	ENSG00000101074	ENST00000217043	T	0.10477	2.87	4.98	4.03	0.46877	CAP domain (3);	0.000000	0.64402	D	0.000001	T	0.37128	0.0992	M	0.87038	2.855	0.45515	D	0.998473	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.66056	D	0.02	.	13.328	0.60471	0.0:0.922:0.0:0.078	.	155	Q9H3Y0	CRSPL_HUMAN	Q	155	ENSP00000217043:P155Q	ENSP00000217043:P155Q	P	+	2	0	R3HDML	42405514	0.998000	0.40836	0.099000	0.21106	0.031000	0.12232	3.934000	0.56553	1.219000	0.43474	-0.145000	0.13849	CCA		0.622	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		17	56	1	0	4.63292e-17	0.008871	7.27755e-17	17	56				
HNF4A	3172	broad.mit.edu	37	20	43034773	43034773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:43034773G>T	ENST00000316099.4	+	2	280	c.191G>T	c.(190-192)gGg>gTg	p.G64V	HNF4A_ENST00000443598.2_Missense_Mutation_p.G64V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G42V|HNF4A_ENST00000415691.2_Missense_Mutation_p.G64V|HNF4A_ENST00000609795.1_Missense_Mutation_p.G42V|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000316673.4_Missense_Mutation_p.G42V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	64					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCATCTGCGGGGACCGGGCC	0.642																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(190-192)GGG>GTG		hepatocyte nuclear factor 4 alpha isoform b							90.0	90.0	90.0					20																	43034773		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034773G>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.191G>T	20.37:g.43034773G>T	ENSP00000312987:p.Gly64Val					HNF4A_uc010zwo.1_Missense_Mutation_p.G55W|HNF4A_uc002xlt.2_Missense_Mutation_p.G42V|HNF4A_uc002xlu.2_Missense_Mutation_p.G42V|HNF4A_uc002xlv.2_Missense_Mutation_p.G42V|HNF4A_uc002xly.2_Missense_Mutation_p.G64V|HNF4A_uc002xlz.2_Missense_Mutation_p.G64V|HNF4A_uc010ggq.2_Missense_Mutation_p.G57V	p.G64V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	280	+		Myeloproliferative disorder(115;0.0122)	64			Nuclear receptor.|NR C4-type.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.191G>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	g	31	5.068392	0.93950	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	5.17	5.17	0.71159	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.050202	0.85682	D	0.000000	D	0.98887	0.9623	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.972;0.972;0.995;0.999;0.999;0.998	D;D;D;D;D;D;D	0.79784	0.993;0.948;0.948;0.949;0.989;0.974;0.984	D	0.99694	1.1002	10	0.87932	D	0	.	18.7348	0.91750	0.0:0.0:1.0:0.0	.	57;64;64;64;42;42;42	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	V	42;42;64;64;94;64	ENSP00000315180:G42V;ENSP00000396216:G42V;ENSP00000312987:G64V;ENSP00000410911:G64V;ENSP00000412111:G64V	ENSP00000312987:G64V	G	+	2	0	HNF4A	42468187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.784000	0.99039	2.414000	0.81942	0.645000	0.84053	GGG		0.642	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			31	109	1	0	1.75199e-13	0.007291	2.59019e-13	31	109				
MATN4	8785	broad.mit.edu	37	20	43926606	43926606	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:43926606C>G	ENST00000372754.1	-	8	1662	c.1654G>C	c.(1654-1656)Ggc>Cgc	p.G552R	MATN4_ENST00000372756.1_Missense_Mutation_p.G511R|MATN4_ENST00000360607.6_Missense_Mutation_p.G470R|MATN4_ENST00000537548.1_Missense_Mutation_p.G511R|MATN4_ENST00000372751.4_Missense_Mutation_p.G362R|MATN4_ENST00000342716.4_Missense_Mutation_p.G511R|MATN4_ENST00000353917.5_Missense_Mutation_p.G429R			O95460	MATN4_HUMAN	matrilin 4	552	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTCATGGTGCCGAAGTCCGGG	0.652																																							uc002xnn.2		NA																	0					0						c.(1531-1533)GGC>CGC		matrilin 4 isoform 1 precursor							71.0	73.0	72.0					20																	43926606		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926606C>G	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1654G>C	20.37:g.43926606C>G	ENSP00000361840:p.Gly552Arg					MATN4_uc002xno.2_Missense_Mutation_p.G470R|MATN4_uc002xnp.2_Missense_Mutation_p.G429R|MATN4_uc010zwr.1_Missense_Mutation_p.G459R|MATN4_uc002xnr.1_Missense_Mutation_p.G511R	p.G511R	NM_003833	NP_003824	O95460	MATN4_HUMAN			8	1718	-		Myeloproliferative disorder(115;0.0122)	552			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1531G>C		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738980	0.49045	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.64	-2.53	0.06326	.	0.704831	0.12796	N	0.438408	T	0.62245	0.2412	N	0.16833	0.445	0.23787	N	0.996847	B;P;B	0.44734	0.067;0.842;0.409	B;B;B	0.44163	0.326;0.443;0.232	T	0.57189	-0.7854	10	0.26408	T	0.33	.	11.6846	0.51479	0.0:0.4982:0.0:0.5018	.	429;470;511	A6NNA4;O95460-4;O95460-2	.;.;.	R	362;552;511;429;470;511;511;552;362	ENSP00000361839:G362R;ENSP00000361840:G552R;ENSP00000361842:G511R;ENSP00000243983:G429R;ENSP00000353819:G470R;ENSP00000343164:G511R;ENSP00000440328:G511R;ENSP00000361837:G362R	ENSP00000255132:G552R	G	-	1	0	MATN4	43360020	0.176000	0.23096	0.836000	0.33094	0.751000	0.42716	0.513000	0.22770	-0.499000	0.06623	-0.322000	0.08575	GGC		0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			12	37	0	0	0	0.00245	0	12	37				
ZNF334	55713	broad.mit.edu	37	20	45129982	45129982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:45129982G>A	ENST00000347606.4	-	5	2178	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	ZNF334_ENST00000593880.1_Missense_Mutation_p.R689C|ZNF334_ENST00000457685.2_Missense_Mutation_p.R628C	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	666					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GATTTGTGGCGAAATGTTTTC	0.358																																							uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1996-1998)CGC>TGC		zinc finger protein 334 isoform a							146.0	142.0	143.0					20																	45129982		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45129982G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1996C>T	20.37:g.45129982G>A	ENSP00000255129:p.Arg666Cys					ZNF334_uc002xsa.2_Missense_Mutation_p.R689C|ZNF334_uc002xsb.2_Missense_Mutation_p.R628C|ZNF334_uc002xsd.2_Missense_Mutation_p.R628C|ZNF334_uc010ghl.2_Missense_Mutation_p.R665C	p.R666C	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	2180	-		Myeloproliferative disorder(115;0.0122)	666			C2H2-type 14.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1996C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797906	0.31777	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.18502	2.21;2.21	3.23	-4.55	0.03441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	L	0.48642	1.525	0.19300	N	0.99997	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.06405	0.002;0.002;0.002	T	0.34279	-0.9835	9	0.42905	T	0.14	.	4.0552	0.09813	0.5027:0.0:0.2103:0.287	.	628;666;689	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	C	628;666	ENSP00000402582:R628C;ENSP00000255129:R666C	ENSP00000255129:R666C	R	-	1	0	ZNF334	44563389	0.000000	0.05858	0.316000	0.25252	0.730000	0.41778	-1.703000	0.01900	-0.745000	0.04772	-0.229000	0.12294	CGC		0.358	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			21	99	0	0	0	0.002299	0	21	99				
SULF2	55959	broad.mit.edu	37	20	46313316	46313316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:46313316G>T	ENST00000359930.4	-	6	1598	c.747C>A	c.(745-747)agC>agA	p.S249R	SULF2_ENST00000361612.4_Missense_Mutation_p.S249R|SULF2_ENST00000484875.1_Missense_Mutation_p.S249R|SULF2_ENST00000467815.1_Missense_Mutation_p.S249R|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	249					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTAGTTGTAGCTCGGCGTGC	0.632																																							uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(745-747)AGC>AGA		sulfatase 2 isoform a precursor							146.0	102.0	117.0					20																	46313316		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46313316G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.747C>A	20.37:g.46313316G>T	ENSP00000353007:p.Ser249Arg					SULF2_uc002xtr.2_Missense_Mutation_p.S249R|SULF2_uc002xtq.2_Missense_Mutation_p.S249R	p.S249R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			6	1077	-			249					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.747C>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	g	16.26	3.072453	0.55646	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.62	3.66	0.41972	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.081704	0.85682	D	0.000000	D	0.98444	0.9482	M	0.78637	2.42	0.58432	D	0.99999	P;D	0.76494	0.94;0.999	P;D	0.77004	0.687;0.989	D	0.98507	1.0617	10	0.87932	D	0	-28.8508	7.2653	0.26226	0.3381:0.0:0.6619:0.0	.	249;249	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	R	249	ENSP00000353007:S249R;ENSP00000418290:S249R;ENSP00000354662:S249R;ENSP00000418442:S249R	ENSP00000353007:S249R	S	-	3	2	SULF2	45746723	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	2.038000	0.41184	1.140000	0.42260	0.537000	0.68136	AGC		0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		18	33	1	0	1.01871e-10	0.008871	1.42771e-10	18	33				
PREX1	57580	broad.mit.edu	37	20	47246139	47246139	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:47246139G>A	ENST00000371941.3	-	37	4636	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1538					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCATCCAGGGCATTGATGG	0.642																																							uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(4612-4614)GCC>GCT		phosphatidylinositol-3,4,							77.0	79.0	78.0					20																	47246139		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47246139G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4614C>T	20.37:g.47246139G>A						PREX1_uc002xtv.1_Silent_p.A835A	p.A1538A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		37	4637	-			1538					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.4614C>T	CCDS13410.1																																																																																				0.642	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		8	72	0	0	0	0.00308	0	8	72				
ARFGEF2	10564	broad.mit.edu	37	20	47587797	47587797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:47587797G>T	ENST00000371917.4	+	10	1331	c.1331G>T	c.(1330-1332)gGc>gTc	p.G444V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	444					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)			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)			TCCAAAAACGGCGTCTCTTCA	0.438																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1330-1332)GGC>GTC		ADP-ribosylation factor guanine							198.0	173.0	181.0					20																	47587797		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587797G>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	ENST00000371917.4:c.1331G>T	20.37:g.47587797G>T	ENSP00000360985:p.Gly444Val						p.G444V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1483	+			444					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1331G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652673	0.88056	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.62941	-0.01	5.91	5.91	0.95273	Armadillo-type fold (1);	0.047802	0.85682	D	0.000000	D	0.82843	0.5125	M	0.86502	2.82	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.84723	0.0741	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	444	Q9Y6D5	BIG2_HUMAN	V	444	ENSP00000360985:G444V	ENSP00000360985:G444V	G	+	2	0	ARFGEF2	47021204	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GGC		0.438	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	130	1	0	0.00185496	0.001855	0.00198953	12	130				
CASS4	57091	broad.mit.edu	37	20	55027161	55027161	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:55027161C>T	ENST00000360314.3	+	6	1154	c.929C>T	c.(928-930)cCt>cTt	p.P310L	CASS4_ENST00000371336.3_Missense_Mutation_p.P310L|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	310					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGAAATTCCTTCTTATGGC	0.463																																							uc002xxp.2		NA																	0				ovary(2)|skin(1)	3						c.(928-930)CCT>CTT		HEF-like protein isoform a							60.0	59.0	59.0					20																	55027161		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027161C>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.929C>T	20.37:g.55027161C>T	ENSP00000353462:p.Pro310Leu					CASS4_uc002xxq.3_Missense_Mutation_p.P310L|CASS4_uc002xxr.2_Missense_Mutation_p.P310L|CASS4_uc010zze.1_Missense_Mutation_p.P256L|CASS4_uc010gio.2_Intron	p.P310L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1154	+			310					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.929C>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879041	0.51801	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.15017	2.46;2.46	5.34	4.38	0.52667	.	0.703897	0.14520	N	0.314555	T	0.18964	0.0455	M	0.74881	2.28	0.09310	N	0.999992	B;P;B	0.38597	0.11;0.639;0.11	B;B;B	0.31686	0.03;0.134;0.03	T	0.22800	-1.0206	10	0.72032	D	0.01	-0.7279	8.4799	0.33036	0.1539:0.7687:0.0:0.0774	.	256;310;310	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	L	310	ENSP00000353462:P310L;ENSP00000360387:P310L	ENSP00000353462:P310L	P	+	2	0	CASS4	54460568	0.000000	0.05858	0.003000	0.11579	0.276000	0.26787	0.450000	0.21762	1.343000	0.45638	0.563000	0.77884	CCT		0.463	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		25	53	0	0	0	0.004656	0	25	53				
ATP5E	514	broad.mit.edu	37	20	57605379	57605379	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:57605379C>T	ENST00000243997.3	-	2	268	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ATP5E_ENST00000395659.1_Silent_p.V46V|ATP5E_ENST00000395663.1_Silent_p.V46V	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	46					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TCTTTACTTTCACAATTTTTA	0.348																																							uc002yal.2		NA																	0					0						c.(136-138)GTG>GTA		ATP synthase, H+ transporting, mitochondrial F1							76.0	71.0	72.0					20																	57605379		2203	4300	6503	SO:0001819	synonymous_variant	514				respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr20:57605379C>T	AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.138G>A	20.37:g.57605379C>T							p.V46V	NM_001001977	NP_001001977	P56381	ATP5E_HUMAN	Colorectal(105;0.109)		2	254	-	all_lung(29;0.00711)		46					B2RDD0|E1P5H6|Q53XU6	Silent	SNP	ENST00000243997.3	37	c.138G>A	CCDS13476.1																																																																																				0.348	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079894.2	NM_001001977		8	55	0	0	0	0.00308	0	8	55				
EDN3	1908	broad.mit.edu	37	20	57876558	57876558	+	Missense_Mutation	SNP	C	C	A	rs148646322		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:57876558C>A	ENST00000337938.2	+	2	532	c.146C>A	c.(145-147)aCt>aAt	p.T49N	EDN3_ENST00000395654.3_Missense_Mutation_p.T49N|EDN3_ENST00000311585.7_Missense_Mutation_p.T49N|EDN3_ENST00000371028.2_Missense_Mutation_p.T49N|EDN3_ENST00000371025.3_Missense_Mutation_p.T49N	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	49					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGTGAAGAGACTGTGGCTGGC	0.682																																							uc002yap.2		NA																	0				skin(1)	1						c.(145-147)ACT>AAT		endothelin 3 isoform 1 preproprotein							27.0	31.0	30.0					20																	57876558		2201	4296	6497	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57876558C>A	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.146C>A	20.37:g.57876558C>A	ENSP00000337128:p.Thr49Asn					EDN3_uc002yao.1_Missense_Mutation_p.T49N|EDN3_uc002yaq.2_Missense_Mutation_p.T49N|EDN3_uc002yar.2_Missense_Mutation_p.T49N|EDN3_uc002yas.2_Missense_Mutation_p.T49N	p.T49N	NM_000114	NP_000105	P14138	EDN3_HUMAN			2	515	+	all_lung(29;0.0115)		49					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.146C>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293771	0.23564	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	2.6	1.47	0.22746	.	0.419232	0.15890	N	0.239591	T	0.80706	0.4674	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.16166	0.016;0.009;0.009;0.009	B;B;B;B	0.12837	0.008;0.004;0.004;0.002	T	0.71377	-0.4611	10	0.48119	T	0.1	-0.1467	8.1153	0.30940	0.2364:0.7635:0.0:0.0	.	49;49;49;49	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	N	49	ENSP00000337128:T49N;ENSP00000311854:T49N;ENSP00000360067:T49N;ENSP00000360064:T49N;ENSP00000379015:T49N	ENSP00000311854:T49N	T	+	2	0	EDN3	57309953	0.034000	0.19679	0.008000	0.14137	0.079000	0.17450	0.055000	0.14229	1.207000	0.43291	0.484000	0.47621	ACT		0.682	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		8	40	1	0	1.58986e-06	0.008291	1.92726e-06	8	40				
CDH26	60437	broad.mit.edu	37	20	58560058	58560058	+	Silent	SNP	C	C	T	rs201340865		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:58560058C>T	ENST00000244047.5	+	7	1022	c.711C>T	c.(709-711)acC>acT	p.T237T	CDH26_ENST00000348616.4_Silent_p.T237T			Q8IXH8	CAD26_HUMAN	cadherin 26	237	Cadherin 2. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCACATAGACCGCTCCTCAGT	0.433													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(709-711)ACC>ACT		cadherin-like 26 isoform a							68.0	57.0	61.0					20																	58560058		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58560058C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.711C>T	20.37:g.58560058C>T						CDH26_uc010zzy.1_RNA	p.T237T	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		7	1011	+	all_lung(29;0.00963)		237			Cadherin 2.|Extracellular (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.711C>T																																																																																					0.433	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		8	40	0	0	0	0.006214	0	8	40				
BIRC7	79444	broad.mit.edu	37	20	61867617	61867617	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:61867617G>T	ENST00000217169.3	+	1	383	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Missense_Mutation_p.G57C|BIRC7_ENST00000395306.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	57					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCAGATCCTGGGCCAGCTGCG	0.701																																							uc002yej.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(169-171)GGC>TGC		livin inhibitor of apoptosis isoform alpha							17.0	18.0	18.0					20																	61867617		2186	4286	6472	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61867617G>T	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.169G>T	20.37:g.61867617G>T	ENSP00000217169:p.Gly57Cys					BIRC7_uc010gkc.1_Missense_Mutation_p.G57C|BIRC7_uc002yei.2_Missense_Mutation_p.G57C|hsa-mir-3196|MI0014241_5'Flank	p.G57C	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			1	342	+	all_cancers(38;2.72e-09)		57					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.169G>T	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663912	0.47572	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.57595	0.63;0.39	4.81	3.75	0.43078	.	0.162304	0.29093	N	0.013168	T	0.65196	0.2668	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.983;0.999;1.0	P;P;D	0.73380	0.723;0.884;0.98	T	0.66408	-0.5931	10	0.56958	D	0.05	.	6.0365	0.19710	0.2484:0.0:0.7516:0.0	.	57;57;57	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	C	57	ENSP00000345213:G57C;ENSP00000217169:G57C	ENSP00000217169:G57C	G	+	1	0	BIRC7	61338062	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	2.794000	0.47853	2.204000	0.70986	0.561000	0.74099	GGC		0.701	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		5	18	1	0	0.00116845	0.001168	0.00125679	5	18				
TPTE	7179	broad.mit.edu	37	21	10970061	10970061	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:10970061G>T	ENST00000361285.4	-	6	396	c.67C>A	c.(67-69)Cca>Aca	p.P23T	TPTE_ENST00000298232.7_Splice_Site_p.P23T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.P23T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	23					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTCTGTGGACTAGTGGAT	0.373																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(67-69)CCA>ACA		transmembrane phosphatase with tensin homology							188.0	179.0	182.0					21																	10970061		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970061G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.66-1C>A	21.37:g.10970061G>T						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P23T|TPTE_uc002yir.1_Missense_Mutation_p.P23T|TPTE_uc010gkv.1_Intron	p.P23T	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	435	-			23					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.67C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.769257	0.00645	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.97209	-3.98;-3.65;-4.29	0.725	-0.445	0.12242	.	.	.	.	.	D	0.88537	0.6463	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.25272	0.008;0.122;0.0	B;B;B	0.25291	0.019;0.059;0.001	T	0.81618	-0.0851	9	0.38643	T	0.18	.	3.6158	0.08077	0.0:0.0:0.5627:0.4373	.	23;23;23	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	23	ENSP00000298232:P23T;ENSP00000355208:P23T;ENSP00000344441:P23T	ENSP00000298232:P23T	P	-	1	0	TPTE	9991932	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-1.604000	0.02076	-0.168000	0.10853	0.194000	0.17425	CCA		0.373	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	19	152	1	0	5.03518e-11	0.007413	7.13633e-11	19	152				
JAM2	58494	broad.mit.edu	37	21	27071170	27071170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:27071170G>A	ENST00000480456.1	+	5	1126	c.576G>A	c.(574-576)atG>atA	p.M192I	JAM2_ENST00000400532.1_Missense_Mutation_p.M192I|JAM2_ENST00000312957.5_Missense_Mutation_p.M192I|JAM2_ENST00000425221.2_Missense_Mutation_p.M156I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	192	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATACACAATGAATACAAAAA	0.378																																							uc002ylp.1		NA																	0					0						c.(574-576)ATG>ATA		junctional adhesion molecule 2 precursor							111.0	103.0	105.0					21																	27071170		1881	4108	5989	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27071170G>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.576G>A	21.37:g.27071170G>A	ENSP00000420419:p.Met192Ile					JAM2_uc011ace.1_Missense_Mutation_p.M192I|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.M156I|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.M192I|JAM2_uc010gli.1_Missense_Mutation_p.M192I	p.M192I	NM_021219	NP_067042	P57087	JAM2_HUMAN			5	1121	+			192			Extracellular (Potential).|Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.576G>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	4.677	0.125796	0.08931	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.95	0.765	0.18470	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.483471	0.26528	N	0.023868	T	0.26048	0.0635	N	0.00686	-1.255	0.27742	N	0.944437	B;B;B;B;B	0.09022	0.0;0.001;0.001;0.002;0.0	B;B;B;B;B	0.08055	0.002;0.003;0.003;0.003;0.003	T	0.17806	-1.0357	10	0.39692	T	0.17	.	1.5503	0.02574	0.2655:0.1395:0.4519:0.1431	.	156;192;192;192;192	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	I	192;192;192;192;192;156	ENSP00000420419:M192I;ENSP00000383376:M192I;ENSP00000318416:M192I;ENSP00000392611:M156I	ENSP00000318416:M192I	M	+	3	0	JAM2	25993041	1.000000	0.71417	0.934000	0.37439	0.595000	0.36748	1.161000	0.31773	-0.034000	0.13713	-0.384000	0.06662	ATG		0.378	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			18	81	0	0	0	0.010504	0	18	81				
DSCAM	1826	broad.mit.edu	37	21	41561050	41561050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:41561050C>A	ENST00000400454.1	-	12	2949	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	824	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATTCGGTCCTCCTTCTCCC	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2470-2472)GAG>GAT		Down syndrome cell adhesion molecule isoform							133.0	135.0	134.0					21																	41561050		2011	4167	6178	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41561050C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2472G>T	21.37:g.41561050C>A	ENSP00000383303:p.Glu824Asp					DSCAM_uc002yyr.1_RNA	p.E824D	NM_001389	NP_001380	O60469	DSCAM_HUMAN			12	2924	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	824			Ig-like C2-type 9.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2472G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737209	0.30774	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.33865	1.39;1.39	5.28	-0.325	0.12702	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123227	0.53938	D	0.000046	T	0.19967	0.0480	N	0.13327	0.33	0.32289	N	0.56654	P	0.48407	0.91	B	0.43301	0.415	T	0.32929	-0.9888	10	0.18276	T	0.48	.	12.078	0.53655	0.0:0.5391:0.0:0.4609	.	824	O60469	DSCAM_HUMAN	D	824;576	ENSP00000383303:E824D;ENSP00000385342:E576D	ENSP00000383303:E824D	E	-	3	2	DSCAM	40482920	0.979000	0.34478	0.997000	0.53966	0.994000	0.84299	0.249000	0.18216	-0.009000	0.14296	0.561000	0.74099	GAG		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		38	93	1	0	1.67305e-13	0.00623	2.47835e-13	38	93				
SLC5A4	6527	broad.mit.edu	37	22	32614704	32614704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:32614704C>A	ENST00000266086.4	-	15	1788	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	593					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGTGATTTCTCAGGATAATCT	0.418																																							uc003ami.2		NA																	0					0						c.(1777-1779)GAG>TAG		solute carrier family 5 (low affinity glucose							72.0	63.0	66.0					22																	32614704		2203	4300	6503	SO:0001587	stop_gained	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32614704C>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1777G>T	22.37:g.32614704C>A	ENSP00000266086:p.Glu593*						p.E593*	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			15	1779	-			593			Cytoplasmic (Potential).		O15279	Nonsense_Mutation	SNP	ENST00000266086.4	37	c.1777G>T	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009329	0.54361	.	.	ENSG00000100191	ENST00000266086	.	.	.	4.23	-0.413	0.12363	.	0.855648	0.10775	N	0.635567	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.4901	0.27456	0.0:0.5775:0.0:0.4225	.	.	.	.	X	593	.	ENSP00000266086:E593X	E	-	1	0	SLC5A4	30944704	0.140000	0.22579	0.006000	0.13384	0.534000	0.34807	1.858000	0.39408	-0.164000	0.10927	-0.222000	0.12452	GAG		0.418	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		28	42	1	0	2.79863e-10	0.004656	3.86478e-10	28	42				
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:49042449C>A	ENST00000402357.1	+	2	286	c.153C>A	c.(151-153)gaC>gaA	p.D51E	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.D44E	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	51						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.D44D(1)|p.D51D(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGACCTTGGACCGGGACAGCA	0.677																																							uc003bim.3		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(151-153)GAC>GAA		family with sequence similarity 19 (chemokine							28.0	36.0	33.0					22																	49042449		2081	4227	6308	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042449C>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.153C>A	22.37:g.49042449C>A	ENSP00000383933:p.Asp51Glu					FAM19A5_uc003bio.3_Missense_Mutation_p.D44E	p.D51E	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	270	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	51					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.153C>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122511	0.94429	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.67822	0.2934	L	0.50333	1.59	0.80722	D	1	P;D	0.58268	0.952;0.982	B;P	0.57244	0.419;0.816	T	0.71344	-0.4621	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	44;51	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	E	51;51;44	.	ENSP00000336812:D51E	D	+	3	2	FAM19A5	47428885	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	GAC		0.677	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		6	33	1	0	0.00116845	0.001168	0.00125679	6	33				
ADM2	79924	broad.mit.edu	37	22	50921163	50921163	+	Missense_Mutation	SNP	G	G	A	rs199649182|rs72438078|rs3840963	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:50921163G>A	ENST00000395738.2	+	2	570	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	ADM2_ENST00000362068.2_Missense_Mutation_p.E10K|ADM2_ENST00000395737.1_Missense_Mutation_p.R93Q	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	93					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.H95_R100delHSGPRR(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)		TCGGGCCCCCGAAGACACTCG	0.692													G|||	4	0.000798722	0.003	0.0	5008	,	,		13729	0.0		0.0	False		,,,				2504	0.0						uc003blj.2		NA																	1	Deletion - In frame(1)		breast(1)		0						c.(277-279)CGA>CAA		adrenomedullin 2 precursor		G	GLN/ARG	16,3942		1,14,1964	8.0	10.0	9.0		278	-0.6	0.0	22		9	0,7946		0,0,3973	yes	missense	ADM2	NM_024866.4	43	1,14,5937	AA,AG,GG		0.0,0.4042,0.1344	benign	93/149	50921163	16,11888	1979	3973	5952	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921163G>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.278G>A	22.37:g.50921163G>A	ENSP00000379087:p.Arg93Gln					ADM2_uc011ary.1_Missense_Mutation_p.R93Q	p.R93Q	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	543	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	93					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.278G>A	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.93|15.93	2.977403|2.977403	0.53720|0.53720	0.004042|0.004042	0.0|0.0	ENSG00000128165|ENSG00000128165	ENST00000362068|ENST00000395738;ENST00000395737	.|.	.|.	.|.	4.21|4.21	-0.635|-0.635	0.11512|0.11512	.|.	.|.	.|.	.|.	.|.	T|T	0.24661|0.24661	0.0598|0.0598	N|N	0.25485|0.25485	0.75|0.75	0.09310|0.09310	N|N	1|1	.|B	.|0.24576	.|0.106	.|B	.|0.16722	.|0.016	T|T	0.18524|0.18524	-1.0334|-1.0334	6|8	0.10377|0.25106	T|T	0.69|0.35	.|.	6.7406|6.7406	0.23433|0.23433	0.5307:0.0:0.4693:0.0|0.5307:0.0:0.4693:0.0	.|.	.|93	.|Q7Z4H4	.|ADM2_HUMAN	K|Q	10|93	.|.	ENSP00000354955:E10K|ENSP00000379086:R93Q	E|R	+|+	1|2	0|0	ADM2|ADM2	49268029|49268029	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.477000|0.477000	0.33069|0.33069	-0.100000|-0.100000	0.10990|0.10990	-0.457000|-0.457000	0.07033|0.07033	0.448000|0.448000	0.29417|0.29417	GAA|CGA		0.692	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		6	12	0	0	0	0.001984	0	6	12				
CHL1	10752	broad.mit.edu	37	3	402006	402006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:402006T>A	ENST00000256509.2	+	12	1847	c.1205T>A	c.(1204-1206)aTc>aAc	p.I402N	CHL1_ENST00000397491.2_Missense_Mutation_p.I386N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I402N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCAGGGAAATCAGTTTTACC	0.388																																							uc003bou.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1156-1158)ATC>AAC		cell adhesion molecule with homology to L1CAM							184.0	174.0	177.0					3																	402006		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:402006T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1205T>A	3.37:g.402006T>A	ENSP00000256509:p.Ile402Asn					CHL1_uc003bot.2_Missense_Mutation_p.I402N|CHL1_uc003bow.1_Missense_Mutation_p.I386N|CHL1_uc011asi.1_Missense_Mutation_p.I402N	p.I386N	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	11	1428	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	386			Ig-like C2-type 4.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1157T>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930196	0.52866	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.82619	-1.63;-1.63	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177149	0.47093	D	0.000246	D	0.91573	0.7338	M	0.87097	2.86	0.52099	D	0.999943	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.77557	0.99;0.99;0.921	D	0.92939	0.6370	10	0.87932	D	0	.	13.5121	0.61519	0.0:0.0:0.0:1.0	.	386;386;402	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	402;386	ENSP00000256509:I402N;ENSP00000380628:I386N	ENSP00000256509:I402N	I	+	2	0	CHL1	377006	1.000000	0.71417	0.993000	0.49108	0.272000	0.26649	4.475000	0.60210	2.062000	0.61559	0.533000	0.62120	ATC		0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		16	81	0	0	0	0.004007	0	16	81				
CNTN4	152330	broad.mit.edu	37	3	2778005	2778005	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:2778005A>G	ENST00000397461.1	+	4	546	c.162A>G	c.(160-162)ggA>ggG	p.G54G	CNTN4_ENST00000418658.1_Silent_p.G54G|CNTN4_ENST00000427331.1_Silent_p.G54G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	54	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTTAAAGGAAATCCAAAAC	0.353																																							uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(160-162)GGA>GGG		contactin 4 isoform a precursor							90.0	87.0	88.0					3																	2778005		1822	4079	5901	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2778005A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.162A>G	3.37:g.2778005A>G						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.G54G	p.G54G	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	383	+		Ovarian(110;0.156)	54			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.162A>G	CCDS43041.1																																																																																				0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			9	84	0	0	0	0.004482	0	9	84				
SYN2	6854	broad.mit.edu	37	3	12211287	12211287	+	RNA	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:12211287G>A	ENST00000432424.2	+	0	1361							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACTGATTGGGGAACATCAGGT	0.532																																							uc003bwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1189-1191)GAA>AAA		synapsin II isoform IIa							76.0	74.0	75.0					3																	12211287		2036	4206	6242			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12211287G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12211287G>A						SYN2_uc003bwl.1_Missense_Mutation_p.E397K|SYN2_uc003bwn.2_Missense_Mutation_p.E71K	p.E397K	NM_133625	NP_598328	Q92777	SYN2_HUMAN			14	1353	+			397					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.1189G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.616445	0.96649	.	.	ENSG00000157152	ENST00000540660	.	.	.	5.21	5.21	0.72293	Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.86573	2.825	0.41802	D	0.989927	P;P	0.49559	0.925;0.776	P;B	0.51079	0.658;0.388	T	0.82319	-0.0516	9	0.87932	D	0	-12.4288	18.5491	0.91057	0.0:0.0:1.0:0.0	.	397;397	Q92777;Q92777-2	SYN2_HUMAN;.	K	329	.	ENSP00000442512:E329K	E	+	1	0	SYN2	12186287	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.379000	0.97198	2.702000	0.92279	0.650000	0.86243	GAA		0.532	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	35	0	0	0	0.009096	0	3	35				
C3orf20	84077	broad.mit.edu	37	3	14769948	14769948	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:14769948C>T	ENST00000253697.3	+	12	2145	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	C3orf20_ENST00000412910.1_Silent_p.L443L|C3orf20_ENST00000435614.1_Silent_p.L443L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	565						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTAACAGGTCTGTTTACCAT	0.493																																							uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.(1693-1695)CTG>TTG		hypothetical protein LOC84077							70.0	72.0	71.0					3																	14769948		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14769948C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1693C>T	3.37:g.14769948C>T						C3orf20_uc003byz.2_Silent_p.L443L|C3orf20_uc003bza.2_Silent_p.L443L|C3orf20_uc003bzb.1_Silent_p.L66L	p.L565L	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			12	2097	+			565					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1693C>T	CCDS33706.1																																																																																				0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		13	48	0	0	0	0.00245	0	13	48				
TMEM89	440955	broad.mit.edu	37	3	48658349	48658349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:48658349T>A	ENST00000330862.3	-	2	504	c.406A>T	c.(406-408)Atc>Ttc	p.I136F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	136						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGCCTTCGATGTGGACCAGG	0.607																																							uc011bbo.1		NA																	0					0						c.(406-408)ATC>TTC		transmembrane protein 89 precursor							128.0	112.0	118.0					3																	48658349		2203	4300	6503	SO:0001583	missense	440955					integral to membrane		g.chr3:48658349T>A	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.406A>T	3.37:g.48658349T>A	ENSP00000329557:p.Ile136Phe						p.I136F	NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	406	-			136			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000330862.3	37	c.406A>T	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244419	0.39697	.	.	ENSG00000183396	ENST00000330862	T	0.56275	0.47	4.83	4.83	0.62350	.	0.374337	0.19313	N	0.117351	T	0.63757	0.2538	L	0.47190	1.495	0.09310	N	0.999995	D	0.76494	0.999	D	0.74674	0.984	T	0.55964	-0.8057	10	0.87932	D	0	-23.0407	10.7207	0.46038	0.0:0.0:0.0:1.0	.	136	A2RUT3	TMM89_HUMAN	F	136	ENSP00000329557:I136F	ENSP00000329557:I136F	I	-	1	0	TMEM89	48633353	0.811000	0.29063	0.033000	0.17914	0.157000	0.22087	3.178000	0.50879	2.044000	0.60594	0.460000	0.39030	ATC		0.607	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		36	82	0	0	0	0.003755	0	36	82				
PDZRN3	23024	broad.mit.edu	37	3	73434883	73434883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:73434883G>T	ENST00000263666.4	-	9	1686	c.1572C>A	c.(1570-1572)caC>caA	p.H524Q	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H241Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H246Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H181Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H181Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	524					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTCCATGTGCAGGTCAT	0.562																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1570-1572)CAC>CAA		PDZ domain containing ring finger 3							207.0	159.0	175.0					3																	73434883		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434883G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1572C>A	3.37:g.73434883G>T	ENSP00000263666:p.His524Gln					PDZRN3_uc011bgh.1_Missense_Mutation_p.H181Q|PDZRN3_uc010hoe.1_Missense_Mutation_p.H222Q|PDZRN3_uc011bgf.1_Missense_Mutation_p.H241Q|PDZRN3_uc011bgg.1_Missense_Mutation_p.H244Q	p.H524Q	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	1668	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	524					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1572C>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.082195|4.082195	0.76528|0.76528	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.09538|.	2.97;3.67;3.55;3.55;3.68;3.65|.	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71247|0.71247	0.3317|0.3317	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	B;D;B;D|.	0.89917|.	0.142;1.0;0.228;0.999|.	B;D;B;D|.	0.83275|.	0.103;0.996;0.075;0.993|.	T|T	0.70960|0.70960	-0.4730|-0.4730	10|5	0.13853|.	T|.	0.58|.	.|.	14.1141|14.1141	0.65142|0.65142	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	246;241;241;524|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	Q|K	524;246;181;181;241;524;222|121	ENSP00000263666:H524Q;ENSP00000442026:H246Q;ENSP00000418168:H181Q;ENSP00000418484:H181Q;ENSP00000418624:H241Q;ENSP00000419250:H222Q|.	ENSP00000263666:H524Q|.	H|T	-|-	3|2	2|0	PDZRN3|PDZRN3	73517573|73517573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.014000|4.014000	0.57145|0.57145	1.297000|1.297000	0.44761|0.44761	-0.126000|-0.126000	0.14955|0.14955	CAC|ACA		0.562	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		21	67	1	0	7.88262e-20	0.00333	1.28647e-19	21	67				
SPICE1	152185	broad.mit.edu	37	3	113187949	113187949	+	Silent	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:113187949T>G	ENST00000295872.4	-	8	1007	c.748A>C	c.(748-750)Aga>Cga	p.R250R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	250					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AACAAACCTCTTTGCTCCCCT	0.388																																							uc003eag.3		NA																	0					0						c.(748-750)AGA>CGA		coiled-coil domain containing 52							107.0	102.0	104.0					3																	113187949		2203	4300	6503	SO:0001819	synonymous_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113187949T>G	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.748A>C	3.37:g.113187949T>G						CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.R146R	p.R250R	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			8	1039	-			250					D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	c.748A>C	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	1.247	-0.619753	0.03636	.	.	ENSG00000163611	ENST00000467618	.	.	.	4.91	3.75	0.43078	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.47114	-0.9142	4	.	.	.	.	4.6156	0.12424	0.1804:0.0932:0.0:0.7264	.	.	.	.	N	61	.	.	K	-	3	2	SPICE1	114670639	0.994000	0.37717	0.815000	0.32552	0.157000	0.22087	2.981000	0.49329	0.818000	0.34468	0.482000	0.46254	AAA		0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		20	52	0	0	0	0.008871	0	20	52				
ALDH1L1	10840	broad.mit.edu	37	3	125876333	125876333	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:125876333A>G	ENST00000393434.2	-	4	730	c.381T>C	c.(379-381)gaT>gaC	p.D127D	ALDH1L1_ENST00000472186.1_Silent_p.D127D|ALDH1L1_ENST00000273450.3_Silent_p.D137D|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Silent_p.D127D|ALDH1L1_ENST00000455064.2_5'UTR|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	127	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCCTTTCTTATCTCCGTGAA	0.587																																							uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(379-381)GAT>GAC		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						92.0	96.0	94.0					3																	125876333		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125876333A>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.381T>C	3.37:g.125876333A>G						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.D153D|ALDH1L1_uc003eip.1_Silent_p.D36D|ALDH1L1_uc011bkj.1_5'UTR	p.D127D	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	4	571	-			127			GART.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.381T>C	CCDS3034.1																																																																																				0.587	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		6	75	0	0	0	0.001168	0	6	75				
EPHB1	2047	broad.mit.edu	37	3	134825299	134825299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:134825299C>A	ENST00000398015.3	+	4	1185	c.815C>A	c.(814-816)gCa>gAa	p.A272E	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	272	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTGCCCTGCAGGGACATTC	0.557																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(814-816)GCA>GAA		ephrin receptor EphB1 precursor							52.0	54.0	53.0					3																	134825299		1933	4141	6074	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134825299C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.815C>A	3.37:g.134825299C>A	ENSP00000381097:p.Ala272Glu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Q161K|EPHB1_uc003equ.2_5'UTR	p.A272E	NM_004441	NP_004432	P54762	EPHB1_HUMAN			4	1035	+			272			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.815C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681892	0.68042	.	.	ENSG00000154928	ENST00000398015	T	0.72725	-0.68	5.7	5.7	0.88788	.	0.117188	0.64402	D	0.000020	T	0.62011	0.2393	N	0.25890	0.77	0.80722	D	1	B	0.18013	0.025	B	0.15484	0.013	T	0.54879	-0.8227	10	0.36615	T	0.2	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	272	P54762	EPHB1_HUMAN	E	272	ENSP00000381097:A272E	ENSP00000381097:A272E	A	+	2	0	EPHB1	136307989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.683000	0.91414	0.655000	0.94253	GCA		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		15	32	1	0	1.5739e-10	0.004007	2.19763e-10	15	32				
PCCB	5096	broad.mit.edu	37	3	135969287	135969287	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:135969287G>A	ENST00000251654.4	+	1	140	c.70G>A	c.(70-72)Gcg>Acg	p.A24T	PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000490504.1_Missense_Mutation_p.A24T|PCCB_ENST00000469217.1_Missense_Mutation_p.A24T|PCCB_ENST00000466072.1_Missense_Mutation_p.A24T|PCCB_ENST00000478469.1_Missense_Mutation_p.A24T|PCCB_ENST00000468777.1_Missense_Mutation_p.A24T|PCCB_ENST00000462637.1_Missense_Mutation_p.A24T|PCCB_ENST00000471595.1_Missense_Mutation_p.A24T|PCCB_ENST00000482086.1_Missense_Mutation_p.A24T|PCCB_ENST00000483687.1_Missense_Mutation_p.A24T	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	24					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TCTCCGCGCCGCGGTCCGCAG	0.692											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003eqy.1		NA																	0					0						c.(70-72)GCG>ACG		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						11.0	13.0	12.0					3																	135969287		2189	4283	6472	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135969287G>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.70G>A	3.37:g.135969287G>A	ENSP00000251654:p.Ala24Thr		OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	PCCB_uc003eqz.1_Missense_Mutation_p.A24T|PCCB_uc011bmc.1_Missense_Mutation_p.A24T	p.A24T	NM_000532	NP_000523	P05166	PCCB_HUMAN			1	121	+			24					B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.70G>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326657	0.24080	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000465423;ENST00000478469	D;D;D;D;D;D;D;D;D;D;D	0.98381	-4.88;-4.55;-4.88;-4.86;-4.82;-4.47;-4.66;-4.87;-4.9;-4.36;-4.74	4.98	3.1	0.35709	.	0.641106	0.16430	N	0.214786	D	0.91865	0.7425	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	D	0.83512	0.0081	10	0.13853	T	0.58	.	5.1037	0.14773	0.0987:0.0:0.5316:0.3697	.	24;24;24	B7Z2Z4;E9PDR0;P05166	.;.;PCCB_HUMAN	T	24	ENSP00000251654:A24T;ENSP00000418307:A24T;ENSP00000420639:A24T;ENSP00000419129:A24T;ENSP00000420391:A24T;ENSP00000420158:A24T;ENSP00000417253:A24T;ENSP00000417549:A24T;ENSP00000419027:A24T;ENSP00000419263:A24T;ENSP00000420759:A24T	ENSP00000251654:A24T	A	+	1	0	PCCB	137451977	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	-0.131000	0.10482	0.629000	0.30376	0.561000	0.74099	GCG		0.692	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			3	8	0	0	0	0.004672	0	3	8				
FOXL2NB	401089	broad.mit.edu	37	3	138668464	138668464	+	Missense_Mutation	SNP	C	C	G	rs141282655	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:138668464C>G	ENST00000383165.3	+	2	334	c.203C>G	c.(202-204)tCg>tGg	p.S68W	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		68										large_intestine(1)|lung(3)	4						GTCCGGCATTCGAAGGCTCAG	0.577																																							uc003esx.1		NA																	0					0						c.(202-204)TCG>TGG		chromosome 3 open reading frame 72							66.0	69.0	68.0					3																	138668464		1941	4142	6083	SO:0001583	missense	401089							g.chr3:138668464C>G																												ENST00000383165.3:c.203C>G	3.37:g.138668464C>G	ENSP00000372651:p.Ser68Trp					FOXL2_uc003esw.2_5'Flank|C3orf72_uc011bmr.1_5'UTR	p.S68W	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			2	334	+			68					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.203C>G	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	4.786	0.146213	0.09134	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.63	-2.07	0.07276	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.18650	-1.0330	8	0.87932	D	0	.	2.8411	0.05530	0.0:0.395:0.2448:0.3603	.	68	Q6ZUU3	CC072_HUMAN	W	68	.	ENSP00000372651:S68W	S	+	2	0	C3orf72	140151154	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.677000	0.00396	-0.660000	0.05352	-0.266000	0.10368	TCG		0.577	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			39	39	0	0	0	0.00623	0	39	39				
ZIC1	7545	broad.mit.edu	37	3	147128840	147128840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:147128840C>T	ENST00000282928.4	+	1	1670	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	314					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A314G(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGGTCTTCGCGCGCTCCGAG	0.562																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(940-942)GCG>GTG		zinc finger protein of the cerebellum 1							55.0	59.0	58.0					3																	147128840		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128840C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.941C>T	3.37:g.147128840C>T	ENSP00000282928:p.Ala314Val						p.A314V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1660	+			314			C2H2-type 3.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.941C>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434950	0.83885	.	.	ENSG00000152977	ENST00000282928	D	0.94537	-3.45	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93605	0.7958	L	0.35644	1.08	0.80722	D	1	D	0.56287	0.975	P	0.52031	0.688	D	0.94555	0.7757	10	0.72032	D	0.01	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	314	Q15915	ZIC1_HUMAN	V	314	ENSP00000282928:A314V	ENSP00000282928:A314V	A	+	2	0	ZIC1	148611530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	GCG		0.562	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		31	44	0	0	0	0.009535	0	31	44				
IGSF10	285313	broad.mit.edu	37	3	151155508	151155508	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:151155508G>A	ENST00000282466.3	-	6	6840	c.6841C>T	c.(6841-6843)Ctc>Ttc	p.L2281F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2281	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGGCTGTGAGGAAAATATTG	0.433																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6841-6843)CTC>TTC		immunoglobulin superfamily, member 10 precursor							122.0	112.0	115.0					3																	151155508		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155508G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6841C>T	3.37:g.151155508G>A	ENSP00000282466:p.Leu2281Phe					IGSF10_uc011bob.1_Missense_Mutation_p.L308F|IGSF10_uc011boc.1_Missense_Mutation_p.L260F	p.L2281F	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6841	-			2281			Ig-like C2-type 9.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6841C>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302281	0.60195	.	.	ENSG00000152580	ENST00000282466	T	0.35236	1.32	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000675	T	0.64405	0.2595	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64558	-0.6379	10	0.34782	T	0.22	.	18.8094	0.92052	0.0:0.0:1.0:0.0	.	2281;308	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	F	2281	ENSP00000282466:L2281F	ENSP00000282466:L2281F	L	-	1	0	IGSF10	152638198	1.000000	0.71417	0.886000	0.34754	0.292000	0.27327	4.407000	0.59754	2.437000	0.82529	0.591000	0.81541	CTC		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		54	64	0	0	0	0.00361	0	54	64				
SLC33A1	9197	broad.mit.edu	37	3	155571625	155571625	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:155571625C>A	ENST00000392845.3	-	1	542	c.162G>T	c.(160-162)ggG>ggT	p.G54G	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.G54G			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	54					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCCGGTATCCCCCAGAAGAG	0.557																																							uc003fan.3		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(160-162)GGG>GGT		acetyl-coenzyme A transporter							45.0	48.0	47.0					3																	155571625		2203	4300	6503	SO:0001819	synonymous_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571625C>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.162G>T	3.37:g.155571625C>A						SLC33A1_uc003fao.1_Silent_p.G54G	p.G54G	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	543	-			54			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	c.162G>T	CCDS3173.1																																																																																				0.557	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		23	49	1	0	2.52088e-20	0.00278	4.13205e-20	23	49				
SHOX2	6474	broad.mit.edu	37	3	157823778	157823778	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:157823778A>G	ENST00000425436.3	-	1	61	c.36T>C	c.(34-36)ttT>ttC	p.F12F	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Silent_p.F12F|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Silent_p.F12F	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	12					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTTTCTGGTCAAAAGACTTGG	0.627																																							uc003fbr.2		NA																	0					0						c.(34-36)TTT>TTC		short stature homeobox 2 isoform a							36.0	38.0	37.0					3																	157823778		1926	4122	6048	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157823778A>G	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.36T>C	3.37:g.157823778A>G						SHOX2_uc003fbs.2_Silent_p.F12F|SHOX2_uc010hvw.2_Silent_p.F12F	p.F12F	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	175	-			12					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.36T>C	CCDS43164.1																																																																																				0.627	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			14	54	0	0	0	0.004007	0	14	54				
BCHE	590	broad.mit.edu	37	3	165503972	165503972	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:165503972A>G	ENST00000264381.3	-	3	1811	c.1645T>C	c.(1645-1647)Ttc>Ctc	p.F549L	BCHE_ENST00000540653.1_Missense_Mutation_p.F11L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	549					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GATGTCCAGAATCGACATTGT	0.358																																							uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1645-1647)TTC>CTC		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						147.0	132.0	137.0					3																	165503972		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165503972A>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1645T>C	3.37:g.165503972A>G	ENSP00000264381:p.Phe549Leu					BCHE_uc003fen.3_RNA	p.F549L	NM_000055	NP_000046	P06276	CHLE_HUMAN			3	1805	-			549					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1645T>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252132	0.59212	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	T;D;D;D	0.95690	-0.4;-3.78;-2.06;-3.78	5.72	5.72	0.89469	Acetylcholinesterase, tetramerisation (1);Carboxylesterase, type B (1);	0.048957	0.85682	D	0.000000	D	0.96147	0.8744	L	0.43757	1.38	0.47341	D	0.999398	D	0.60575	0.988	D	0.64506	0.926	D	0.96199	0.9144	10	0.51188	T	0.08	.	15.1866	0.73006	1.0:0.0:0.0:0.0	.	549	P06276	CHLE_HUMAN	L	549;79;11;79	ENSP00000264381:F549L;ENSP00000418325:F79L;ENSP00000443583:F11L;ENSP00000418504:F79L	ENSP00000264381:F549L	F	-	1	0	BCHE	166986666	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	6.461000	0.73522	2.184000	0.69523	0.533000	0.62120	TTC		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			11	44	0	0	0	0.001368	0	11	44				
NLGN1	22871	broad.mit.edu	37	3	173998697	173998697	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:173998697G>C	ENST00000457714.1	+	7	2505	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	NLGN1_ENST00000545397.1_Missense_Mutation_p.L692F|NLGN1_ENST00000401917.3_Missense_Mutation_p.L732F|NLGN1_ENST00000361589.4_Missense_Mutation_p.L692F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	709					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAACATCTTGGCCTTTGCAG	0.463																																							uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2074-2076)TTG>TTC		neuroligin 1							93.0	93.0	93.0					3																	173998697		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998697G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2076G>C	3.37:g.173998697G>C	ENSP00000392500:p.Leu692Phe					NLGN1_uc003fip.1_Missense_Mutation_p.L692F	p.L692F	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2499	+	Ovarian(172;0.0025)		709			Helical; (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2076G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485553	0.63962	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.69	1.35	0.21983	.	0.000000	0.64402	D	0.000002	D	0.84982	0.5593	M	0.84511	2.7	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	T	0.81790	-0.0771	10	0.87932	D	0	.	3.6175	0.08083	0.2093:0.1228:0.5425:0.1254	.	692	Q8N2Q7-2	.	F	692;692;692;732	ENSP00000392500:L692F;ENSP00000354541:L692F;ENSP00000441108:L692F;ENSP00000385750:L732F	ENSP00000354541:L692F	L	+	3	2	NLGN1	175481391	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.912000	0.39946	0.433000	0.26313	0.655000	0.94253	TTG		0.463	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		47	55	0	0	0	0.00361	0	47	55				
FXR1	8087	broad.mit.edu	37	3	180675674	180675675	+	Nonsense_Mutation	DNP	GA	GA	TT			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:180675674_180675675GA>TT	ENST00000357559.4	+	10	1332_1333	c.948_949GA>TT	c.(946-951)gtGAga>gtTTga	p.R317*	FXR1_ENST00000305586.7_Nonsense_Mutation_p.R232*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R317*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R232*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R268*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R304*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	317					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGTTCGAGTGAGAATTGAAGG	0.322																																							uc003fkq.2		NA																	0				breast(1)	1						c.(946-951)GTGAGA>GTTTGA		fragile X mental retardation-related protein 1																																				SO:0001587	stop_gained	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675674_180675675GA>TT	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	Exception_encountered	3.37:g.180675674_180675675delinsTT	ENSP00000350170:p.Arg317*					FXR1_uc003fkp.2_Nonsense_Mutation_p.R232*|FXR1_uc003fkr.2_Nonsense_Mutation_p.R317*|FXR1_uc011bqj.1_Nonsense_Mutation_p.R231*|FXR1_uc003fks.2_Nonsense_Mutation_p.R231*|FXR1_uc011bqk.1_Nonsense_Mutation_p.R268*|FXR1_uc011bql.1_Nonsense_Mutation_p.R304*	p.R317*	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	970_971	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		317					A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	DNP	ENST00000357559.4	37	c.948_949GA>TT	CCDS3238.1																																																																																				0.322	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			42	56	0	0	0	0.004672	0	42	56				
MASP1	5648	broad.mit.edu	37	3	186943140	186943140	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:186943140G>A	ENST00000337774.5	-	13	2102	c.1713C>T	c.(1711-1713)atC>atT	p.I571I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	571	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGCAGACAGATGGGCATCA	0.582																																							uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.(1711-1713)ATC>ATT		mannan-binding lectin serine protease 1 isoform							156.0	135.0	142.0					3																	186943140		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943140G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1713C>T	3.37:g.186943140G>A							p.I571I	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	2045	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		571			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1713C>T	CCDS33907.1																																																																																				0.582	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		63	66	0	0	0	0.00361	0	63	66				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																							uc011bto.1		NA																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	5	0	0	0	0.004672	0	2	5				
CPZ	8532	broad.mit.edu	37	4	8605802	8605802	+	Missense_Mutation	SNP	G	G	T	rs199580862		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:8605802G>T	ENST00000360986.4	+	4	770	c.596G>T	c.(595-597)cGg>cTg	p.R199L	CPZ_ENST00000382480.2_Missense_Mutation_p.R62L|CPZ_ENST00000315782.6_Missense_Mutation_p.R188L|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	199					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCTGAGGCGGACGGCCTCC	0.701																																							uc003glm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(595-597)CGG>CTG		carboxypeptidase Z isoform 1							21.0	17.0	18.0					4																	8605802		2178	4266	6444	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605802G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.596G>T	4.37:g.8605802G>T	ENSP00000354255:p.Arg199Leu					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R62L|CPZ_uc003glo.2_Missense_Mutation_p.R188L|CPZ_uc003glp.2_RNA	p.R199L	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			4	722	+			199					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.596G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327681	0.41197	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.10573	2.86;2.86;2.86	3.86	0.749	0.18381	Peptidase M14, carboxypeptidase A (1);	0.531595	0.20032	N	0.100684	T	0.08714	0.0216	L	0.34521	1.04	0.80722	D	1	P;P	0.48407	0.91;0.877	B;P	0.45138	0.44;0.471	T	0.26643	-1.0097	10	0.46703	T	0.11	-14.6906	5.7709	0.18253	0.6483:0.0:0.3517:0.0	.	188;199	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	199;62;188	ENSP00000354255:R199L;ENSP00000371920:R62L;ENSP00000315074:R188L	ENSP00000315074:R188L	R	+	2	0	CPZ	8656702	1.000000	0.71417	0.795000	0.32087	0.252000	0.25951	1.425000	0.34859	0.289000	0.22422	0.555000	0.69702	CGG		0.701	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		3	10	1	0	0.004672	0.004672	0.00490625	3	10				
ZNF518B	85460	broad.mit.edu	37	4	10446863	10446863	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:10446863A>G	ENST00000326756.3	-	3	1528	c.1090T>C	c.(1090-1092)Ttt>Ctt	p.F364L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	364					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)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCCAGCGGAAACAGTTTCAGA	0.423																																							uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1090-1092)TTT>CTT		zinc finger protein 518B							133.0	135.0	134.0					4																	10446863		2203	4299	6502	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446863A>G	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.1090T>C	4.37:g.10446863A>G	ENSP00000317614:p.Phe364Leu						p.F364L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1577	-			364					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1090T>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643229	0.47153	.	.	ENSG00000178163	ENST00000326756	T	0.01258	5.09	6.17	4.95	0.65309	.	0.205916	0.34088	N	0.004279	T	0.01254	0.0041	L	0.34521	1.04	0.34359	D	0.690715	P	0.44090	0.826	B	0.39152	0.292	T	0.51537	-0.8693	10	0.06891	T	0.86	-18.1698	10.4718	0.44642	0.8024:0.0:0.0:0.1976	.	364	Q9C0D4	Z518B_HUMAN	L	364	ENSP00000317614:F364L	ENSP00000317614:F364L	F	-	1	0	ZNF518B	10055961	0.998000	0.40836	0.992000	0.48379	0.890000	0.51754	3.189000	0.50965	2.371000	0.80710	0.533000	0.62120	TTT		0.423	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		45	148	0	0	0	0.00361	0	45	148				
LAP3	51056	broad.mit.edu	37	4	17585192	17585192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:17585192G>T	ENST00000226299.4	+	5	740	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	LAP3_ENST00000606142.1_Missense_Mutation_p.V125L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	156					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGAGGGAGCGGTGCTTGGTCT	0.527																																							uc003gph.1		NA																	0					0						c.(466-468)GTG>TTG		leucine aminopeptidase 3							104.0	107.0	106.0					4																	17585192		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17585192G>T	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.466G>T	4.37:g.17585192G>T	ENSP00000226299:p.Val156Leu					LAP3_uc010ieg.2_Silent_p.R120R	p.V156L	NM_015907	NP_056991	P28838	AMPL_HUMAN			5	628	+			156					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.466G>T	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	3.796	-0.042620	0.07452	.	.	ENSG00000002549	ENST00000226299	T	0.39787	1.06	5.43	1.55	0.23275	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.328116	0.33235	N	0.005121	T	0.26557	0.0649	L	0.38175	1.15	0.28218	N	0.926634	B	0.11235	0.004	B	0.12837	0.008	T	0.12811	-1.0533	10	0.30854	T	0.27	-10.0017	4.2116	0.10514	0.1313:0.2302:0.5198:0.1187	.	156	P28838	AMPL_HUMAN	L	156	ENSP00000226299:V156L	ENSP00000226299:V156L	V	+	1	0	LAP3	17194290	0.976000	0.34144	0.090000	0.20809	0.512000	0.34134	1.709000	0.37909	0.029000	0.15352	0.655000	0.94253	GTG		0.527	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			26	76	1	0	3.28513e-13	0.003954	4.80968e-13	26	76				
GBA3	57733	broad.mit.edu	37	4	22748966	22748966	+	RNA	SNP	G	G	T	rs202139282		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:22748966G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAAATGGGGTTACTCCCAT	0.368																																							uc003gqp.3		NA																	0					0						c.(334-336)GTT>TTT		cytosolic beta-glucosidase isoform a		G	,PHE/VAL	0,3652		0,0,1826	133.0	132.0	132.0		,334	-1.0	0.0	4		132	4,8152		0,4,4074	yes	intron,missense	GBA3	NM_001128432.1,NM_020973.3	,50	0,4,5900	TT,TG,GG		0.049,0.0,0.0339	,probably-damaging	,112/470	22748966	4,11804	1826	4078	5904			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748966G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748966G>T						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V113F	p.V112F	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	425	+			112					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.334G>T																																																																																					0.368	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			11	136	1	0	1.58986e-06	0.008291	1.92726e-06	11	136				
FRYL	285527	broad.mit.edu	37	4	48536592	48536592	+	Missense_Mutation	SNP	C	C	G	rs533775092	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:48536592C>G	ENST00000503238.1	-	46	6674	c.6675G>C	c.(6673-6675)gaG>gaC	p.E2225D	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2225D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E2225D			O94915	FRYL_HUMAN	FRY-like	2225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTTTATGATCTCCAGATTAA	0.333																																							uc003gyh.1		NA																	0				skin(1)	1						c.(6673-6675)GAG>GAC		furry-like							85.0	80.0	81.0					4																	48536592		1836	4086	5922	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48536592C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6675G>C	4.37:g.48536592C>G	ENSP00000426064:p.Glu2225Asp					FRYL_uc003gyg.1_Missense_Mutation_p.E921D|FRYL_uc003gyi.1_Missense_Mutation_p.E1113D|FRYL_uc003gyj.1_Missense_Mutation_p.E520D	p.E2225D	NM_015030	NP_055845	O94915	FRYL_HUMAN			49	7280	-			2225					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6675G>C	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.220|9.220	1.033107|1.033107	0.19590|0.19590	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.32272	.|1.46;1.46;1.46	5.67|5.67	3.95|3.95	0.45737|0.45737	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23054|0.23054	0.0557|0.0557	N|N	0.17631|0.17631	0.505|0.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.58268	.|0.982;0.105;0.09	.|P;B;B	.|0.52909	.|0.713;0.174;0.061	T|T	0.15122|0.15122	-1.0448|-1.0448	5|10	.|0.02654	.|T	.|1	.|.	8.8244|8.8244	0.35045|0.35045	0.0:0.7156:0.0:0.2844|0.0:0.7156:0.0:0.2844	.|.	.|1055;2225;2225	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	H|D	1095|2225	.|ENSP00000426064:E2225D;ENSP00000351113:E2225D;ENSP00000441114:E2225D	.|ENSP00000351113:E2225D	D|E	-|-	1|3	0|2	FRYL|FRYL	48231349|48231349	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.133000|0.133000	0.15912|0.15912	0.750000|0.750000	0.32877|0.32877	0.650000|0.650000	0.86243|0.86243	GAT|GAG		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			3	35	0	0	0	0.009096	0	3	35				
KIAA1211	57482	broad.mit.edu	37	4	57181839	57181839	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:57181839C>T	ENST00000504228.1	+	6	2276	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A717V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A724V			Q6ZU35	K1211_HUMAN	KIAA1211	724										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATTATGCCTGCCTGGCAGAAA	0.557																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2170-2172)GCC>GTC		hypothetical protein LOC57482							66.0	76.0	73.0					4																	57181839		1962	4148	6110	SO:0001583	missense	57482							g.chr4:57181839C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2171C>T	4.37:g.57181839C>T	ENSP00000423366:p.Ala724Val					KIAA1211_uc010iha.2_Missense_Mutation_p.A717V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A634V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A610V	p.A724V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2562	+	Glioma(25;0.08)|all_neural(26;0.101)		724					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2171C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173618	0.94807	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02763	4.17;4.17;4.17	4.58	4.58	0.56647	.	.	.	.	.	T	0.14960	0.0361	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00455	-1.1729	9	0.87932	D	0	-19.2232	17.5686	0.87928	0.0:1.0:0.0:0.0	.	717;717;724	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	724;724;717;634	ENSP00000264229:A724V;ENSP00000423366:A724V;ENSP00000444006:A717V	ENSP00000264229:A724V	A	+	2	0	KIAA1211	56876596	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	7.132000	0.77251	2.365000	0.80145	0.555000	0.69702	GCC		0.557	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		14	73	0	0	0	0.003163	0	14	73				
LPHN3	23284	broad.mit.edu	37	4	62812728	62812728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:62812728C>A	ENST00000514591.1	+	15	2641	c.2312C>A	c.(2311-2313)aCa>aAa	p.T771K	LPHN3_ENST00000506746.1_Missense_Mutation_p.T839K|LPHN3_ENST00000512091.2_Missense_Mutation_p.T771K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T771K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T839K|LPHN3_ENST00000504896.1_Missense_Mutation_p.T771K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T771K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T839K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T771K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T771K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	758					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTGTCCACAAATCATTCT	0.403																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2311-2313)ACA>AAA		latrophilin 3 precursor							234.0	219.0	224.0					4																	62812728		1891	4118	6009	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812728C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2312C>A	4.37:g.62812728C>A	ENSP00000422533:p.Thr771Lys					LPHN3_uc003hcq.3_Missense_Mutation_p.T771K|LPHN3_uc003hct.2_Missense_Mutation_p.T164K	p.T771K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2485	+			758			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2312C>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.47|11.47	1.647909|1.647909	0.29336|0.29336	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.08984	.|3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Domain of unknown function DUF3497 (1);	.|0.169585	.|0.51477	.|D	.|0.000083	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.08118|0.08118	0|0	0.46336|0.46336	D|D	0.998994|0.998994	.|P;P;P	.|0.47910	.|0.801;0.801;0.902	.|B;B;B	.|0.43225	.|0.412;0.412;0.288	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.06099	.|T	.|0.92	.|.	14.2893|14.2893	0.66265|0.66265	0.1486:0.8513:0.0:0.0|0.1486:0.8513:0.0:0.0	.|.	.|771;758;771	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	Q|K	228|771;771;839;839;771;771;758;771;839;839;839;771;771;771;839;839;771	.|ENSP00000423388:T771K;ENSP00000422533:T771K;ENSP00000423787:T839K;ENSP00000425033:T839K;ENSP00000424120:T771K;ENSP00000439831:T771K;ENSP00000421476:T839K;ENSP00000424030:T839K;ENSP00000421372:T839K;ENSP00000425201:T771K;ENSP00000423434:T771K;ENSP00000421627:T771K;ENSP00000420931:T839K;ENSP00000425884:T839K;ENSP00000424258:T771K	.|ENSP00000280009:T771K	H|T	+|+	3|2	2|0	LPHN3|LPHN3	62495323|62495323	0.921000|0.921000	0.31238|0.31238	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.816000|3.816000	0.55658|0.55658	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	CAC|ACA		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			20	200	1	0	2.39187e-15	0.008871	3.64338e-15	20	200				
EPHA5	2044	broad.mit.edu	37	4	66467859	66467859	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:66467859C>A	ENST00000273854.3	-	3	1010	c.410G>T	c.(409-411)tGc>tTc	p.C137F	EPHA5_ENST00000511294.1_Missense_Mutation_p.C137F|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137F|EPHA5_ENST00000432638.2_Missense_Mutation_p.C137F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	137	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGGCTGTTGCAGTCCCGCAG	0.428										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(409-411)TGC>TTC		ephrin receptor EphA5 isoform a precursor							76.0	79.0	78.0					4																	66467859		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467859C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.410G>T	4.37:g.66467859C>A	ENSP00000273854:p.Cys137Phe	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.C68F|EPHA5_uc003hcz.2_Missense_Mutation_p.C137F|EPHA5_uc011cah.1_Missense_Mutation_p.C137F|EPHA5_uc011cai.1_Missense_Mutation_p.C137F|EPHA5_uc003hda.2_Missense_Mutation_p.C137F	p.C137F	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	603	-			137			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.410G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088883	0.76756	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.68	5.68	0.88126	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.79143	0.4396	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.996	D;D;D;D	0.91635	0.999;0.992;0.999;0.98	D	0.84604	0.0674	10	0.87932	D	0	.	19.7821	0.96420	0.0:1.0:0.0:0.0	.	137;137;137;137	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	137	ENSP00000273854:C137F;ENSP00000389208:C137F;ENSP00000346899:C137F;ENSP00000427638:C137F	ENSP00000273854:C137F	C	-	2	0	EPHA5	66150454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.682000	0.91365	0.655000	0.94253	TGC		0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		20	83	1	0	2.98393e-07	0.00278	3.77497e-07	20	83				
UGT2B11	10720	broad.mit.edu	37	4	70066400	70066400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:70066400G>A	ENST00000446444.1	-	6	1356	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	450					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTTGATCATGTTGAATTCTT	0.383																																							uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1348-1350)CAT>TAT		UDP glucuronosyltransferase 2 family,							78.0	82.0	80.0					4																	70066400		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70066400G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1348C>T	4.37:g.70066400G>A	ENSP00000387683:p.His450Tyr					uc003hei.1_Intron	p.H450Y	NM_001073	NP_001064	O75310	UDB11_HUMAN			6	1357	-			450					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1348C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.70	1.423709	0.25639	.	.	ENSG00000213759	ENST00000446444	T	0.61742	0.08	1.27	1.27	0.21489	.	0.074682	0.52532	U	0.000068	T	0.70456	0.3226	M	0.87456	2.885	0.25822	N	0.984272	P	0.52463	0.953	P	0.57283	0.817	T	0.62296	-0.6884	10	0.87932	D	0	.	8.4963	0.33130	0.0:0.0:1.0:0.0	.	450	O75310	UDB11_HUMAN	Y	450	ENSP00000387683:H450Y	ENSP00000387683:H450Y	H	-	1	0	UGT2B11	70100989	0.989000	0.36119	0.482000	0.27366	0.117000	0.20001	4.366000	0.59492	1.023000	0.39654	0.184000	0.17185	CAT		0.383	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		27	88	0	0	0	0.00632	0	27	88				
CSN2	1447	broad.mit.edu	37	4	70823394	70823394	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:70823394C>A	ENST00000353151.3	-	5	284	c.273G>T	c.(271-273)ctG>ctT	p.L91L		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GAGGGACAGGCAGCACCACAG	0.483																																							uc003hes.3		NA																	0					0						c.(271-273)CTG>CTT		casein beta precursor							123.0	115.0	118.0					4																	70823394		2203	4300	6503	SO:0001819	synonymous_variant	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823394C>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.273G>T	4.37:g.70823394C>A						CSN2_uc003het.3_Silent_p.L90L	p.L91L	NM_001891	NP_001882	P05814	CASB_HUMAN			5	286	-			91					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000353151.3	37	c.273G>T	CCDS3532.1																																																																																				0.483	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			16	114	1	0	1.99824e-07	0.00499	2.54076e-07	16	114				
ENAM	10117	broad.mit.edu	37	4	71510364	71510364	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:71510364C>G	ENST00000396073.3	+	9	3502	c.3221C>G	c.(3220-3222)tCt>tGt	p.S1074C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1074					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGAACTCCATCTAGCGATGGA	0.443																																							uc011caw.1		NA																	0				ovary(3)	3						c.(3220-3222)TCT>TGT		enamelin precursor							98.0	94.0	95.0					4																	71510364		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510364C>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3221C>G	4.37:g.71510364C>G	ENSP00000379383:p.Ser1074Cys						p.S1074C	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3502	+			1074					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3221C>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768345	0.31320	.	.	ENSG00000132464	ENST00000396073	T	0.35605	1.3	5.95	3.9	0.45041	.	0.514908	0.18211	N	0.148188	T	0.59266	0.2181	M	0.83483	2.645	0.23454	N	0.997647	D	0.89917	1.0	D	0.76071	0.987	T	0.50583	-0.8811	10	0.51188	T	0.08	-13.3037	9.5797	0.39479	0.0:0.8147:0.0:0.1853	.	1074	Q9NRM1	ENAM_HUMAN	C	1074	ENSP00000379383:S1074C	ENSP00000379383:S1074C	S	+	2	0	ENAM	71729228	0.348000	0.24861	1.000000	0.80357	0.379000	0.30106	1.276000	0.33156	1.495000	0.48549	0.655000	0.94253	TCT		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		25	72	0	0	0	0.00278	0	25	72				
SLC4A4	8671	broad.mit.edu	37	4	72432731	72432731	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:72432731A>G	ENST00000264485.5	+	25	3324	c.3207A>G	c.(3205-3207)tcA>tcG	p.S1069S	SLC4A4_ENST00000340595.3_Silent_p.S1025S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H1037R|SLC4A4_ENST00000351898.6_Silent_p.S985S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1069				S -> P (in Ref. 3; AAF21719). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAGAAAGATCACCAACATTCC	0.338																																							uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(3205-3207)TCA>TCG		solute carrier family 4, sodium bicarbonate							124.0	114.0	117.0					4																	72432731		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72432731A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3207A>G	4.37:g.72432731A>G						SLC4A4_uc010iic.2_Missense_Mutation_p.H1037R|SLC4A4_uc010iib.2_Silent_p.S985S|SLC4A4_uc003hfz.2_Silent_p.S1069S|SLC4A4_uc003hgc.3_Silent_p.S1025S|SLC4A4_uc010iid.2_Silent_p.S273S	p.S1069S	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		25	3324	+			1069	S -> P (in Ref. 3; AAF21719).		Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.3207A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	7.168	0.587101	0.13812	.	.	ENSG00000080493	ENST00000425175	T	0.77229	-1.08	5.6	0.25	0.15535	.	.	.	.	.	T	0.56949	0.2020	.	.	.	0.29219	N	0.874057	B	0.02656	0.0	B	0.01281	0.0	T	0.40831	-0.9542	8	0.25106	T	0.35	.	1.9797	0.03423	0.489:0.2577:0.1341:0.1192	.	1037	A5JJ20	.	R	1037	ENSP00000393557:H1037R	ENSP00000393557:H1037R	H	+	2	0	SLC4A4	72651595	1.000000	0.71417	0.972000	0.41901	0.234000	0.25298	2.127000	0.42035	-0.146000	0.11274	-0.456000	0.05471	CAC		0.338	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		11	48	0	0	0	0.000978	0	11	48				
FRAS1	80144	broad.mit.edu	37	4	79300930	79300930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:79300930A>T	ENST00000325942.6	+	27	3783	c.3343A>T	c.(3343-3345)Att>Ttt	p.I1115F	FRAS1_ENST00000264895.6_Missense_Mutation_p.I1115F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1115					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCTCCCAATTGGTTCAAT	0.438																																							uc003hlb.2		NA																	0				large_intestine(5)	5						c.(3343-3345)ATT>TTT		Fraser syndrome 1							87.0	83.0	85.0					4																	79300930		1865	4096	5961	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79300930A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3343A>T	4.37:g.79300930A>T	ENSP00000326330:p.Ile1115Phe					FRAS1_uc003hkw.2_Missense_Mutation_p.I1115F	p.I1115F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			27	3783	+			1114			CSPG 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3343A>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746700	0.49257	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.86562	-2.14;-2.14	5.63	4.46	0.54185	.	0.144193	0.48286	D	0.000199	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	B;P	0.34934	0.317;0.476	B;B	0.31101	0.112;0.124	D	0.85316	0.1081	10	0.48119	T	0.1	.	11.0029	0.47616	0.9274:0.0:0.0726:0.0	.	1115;1115	E9PHH6;A2RRR8	.;.	F	1115	ENSP00000326330:I1115F;ENSP00000264895:I1115F	ENSP00000264895:I1115F	I	+	1	0	FRAS1	79519954	0.993000	0.37304	0.995000	0.50966	0.682000	0.39822	3.209000	0.51122	2.146000	0.66826	0.482000	0.46254	ATT		0.438	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			11	45	0	0	0	0.000978	0	11	45				
MMRN1	22915	broad.mit.edu	37	4	90874520	90874520	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:90874520A>C	ENST00000394980.1	+	9	3957	c.3638A>C	c.(3637-3639)aAg>aCg	p.K1213T	MMRN1_ENST00000394981.1_Missense_Mutation_p.K516T|MMRN1_ENST00000508372.1_Missense_Mutation_p.K955T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K1213T			Q13201	MMRN1_HUMAN	multimerin 1	1213	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATTCCAGCCAAGTTTCCCCCT	0.363																																							uc003hst.2		NA																	0				ovary(4)	4						c.(3637-3639)AAG>ACG		multimerin 1							62.0	64.0	63.0					4																	90874520		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874520A>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3638A>C	4.37:g.90874520A>C	ENSP00000378431:p.Lys1213Thr					MMRN1_uc010iku.2_Missense_Mutation_p.K516T|MMRN1_uc011cds.1_Missense_Mutation_p.K955T	p.K1213T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3709	+		Hepatocellular(203;0.114)	1213			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3638A>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041299	0.55003	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.25	1.62	0.23740	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.172514	0.40469	N	0.001085	D	0.84469	0.5479	L	0.36672	1.1	0.27316	N	0.957184	D;D	0.69078	0.996;0.997	P;D	0.68039	0.892;0.955	T	0.74659	-0.3591	10	0.25106	T	0.35	.	8.0246	0.30430	0.7664:0.0:0.2336:0.0	.	516;1213	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1213;1213;516;955	ENSP00000378431:K1213T;ENSP00000264790:K1213T;ENSP00000378432:K516T;ENSP00000426461:K955T	ENSP00000264790:K1213T	K	+	2	0	MMRN1	91093543	1.000000	0.71417	0.959000	0.39883	0.681000	0.39784	2.583000	0.46094	0.512000	0.28257	-0.361000	0.07541	AAG		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		22	64	0	0	0	0.002299	0	22	64				
PDHA2	5161	broad.mit.edu	37	4	96761473	96761473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:96761473G>T	ENST00000295266.4	+	1	235	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	58					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CACTAGGGCGGAGGGGCTTAA	0.458																																							uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(172-174)GAG>TAG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						72.0	66.0	68.0					4																	96761473		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761473G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.172G>T	4.37:g.96761473G>T	ENSP00000295266:p.Glu58*						p.E58*	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	235	+		Hepatocellular(203;0.114)	58					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.172G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498870	0.64298	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.81	4.81	0.61882	.	0.299706	0.35262	N	0.003326	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.1769	11.4444	0.50114	0.0:0.182:0.818:0.0	.	.	.	.	X	58	.	ENSP00000295266:E58X	E	+	1	0	PDHA2	96980496	0.987000	0.35691	0.945000	0.38365	0.274000	0.26718	1.193000	0.32162	2.676000	0.91093	0.467000	0.42956	GAG		0.458	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			7	49	1	0	2.0095e-06	0.001984	2.43204e-06	7	49				
ADH7	131	broad.mit.edu	37	4	100348950	100348950	+	Missense_Mutation	SNP	C	C	A	rs373728468		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:100348950C>A	ENST00000209665.4	-	5	820	c.580G>T	c.(580-582)Gct>Tct	p.A194S	ADH7_ENST00000476959.1_Missense_Mutation_p.A202S|ADH7_ENST00000437033.2_Missense_Mutation_p.A182S|ADH7_ENST00000482593.1_Missense_Mutation_p.A125S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	194					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTAACAGCAGCGCCATATCCA	0.408																																							uc003huv.1		NA																	0				lung(2)|skin(1)	3						c.(580-582)GCT>TCT		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						81.0	74.0	77.0					4																	100348950		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100348950C>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.580G>T	4.37:g.100348950C>A	ENSP00000209665:p.Ala194Ser						p.A194S	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	679	-			194					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.580G>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381776	0.61845	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.81	3.03	0.35002	GroES-like (1);	0.050952	0.85682	D	0.000000	T	0.29256	0.0728	L	0.42632	1.34	0.80722	D	1	B	0.16603	0.018	B	0.28784	0.094	T	0.09640	-1.0665	10	0.54805	T	0.06	-22.0869	12.8507	0.57856	0.4194:0.5806:0.0:0.0	.	194	P40394	ADH7_HUMAN	S	182;194;125;202	ENSP00000414254:A182S;ENSP00000209665:A194S;ENSP00000420613:A125S;ENSP00000420269:A202S	ENSP00000209665:A194S	A	-	1	0	ADH7	100567973	0.725000	0.28048	0.005000	0.12908	0.896000	0.52359	1.361000	0.34136	0.594000	0.29761	0.655000	0.94253	GCT		0.408	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		6	45	1	0	1.06961e-07	0.00308	1.37861e-07	6	45				
ZGRF1	55345	broad.mit.edu	37	4	113524823	113524823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:113524823C>A	ENST00000505019.1	-	10	2958	c.2833G>T	c.(2833-2835)Gga>Tga	p.G945*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G945*	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		945						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAGCTGATCCTTTTACTTGA	0.368																																							uc003iau.2		NA																	0					0						c.(2833-2835)GGA>TGA		prematurely terminated mRNA decay factor-like							164.0	134.0	144.0					4																	113524823		2203	4300	6503	SO:0001587	stop_gained	55345					integral to membrane	zinc ion binding	g.chr4:113524823C>A																												ENST00000505019.1:c.2833G>T	4.37:g.113524823C>A	ENSP00000424737:p.Gly945*					C4orf21_uc003iaw.2_Nonsense_Mutation_p.G945*	p.G945*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3044	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37	c.2833G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.749436	0.97809	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	.	.	.	5.38	5.38	0.77491	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6288	15.8467	0.78899	0.0:1.0:0.0:0.0	.	.	.	.	X	945	.	ENSP00000309095:G945X	G	-	1	0	C4orf21	113744272	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	4.002000	0.57053	2.513000	0.84729	0.555000	0.69702	GGA		0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			11	58	1	0	5.16669e-11	0.000978	7.30897e-11	11	58				
FAT4	79633	broad.mit.edu	37	4	126241676	126241676	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:126241676G>C	ENST00000394329.3	+	1	4123	c.4110G>C	c.(4108-4110)ggG>ggC	p.G1370G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1370	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAACACTGGGAGTATTTTTC	0.368																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4108-4110)GGG>GGC		FAT tumor suppressor homolog 4 precursor							120.0	112.0	114.0					4																	126241676		1816	4081	5897	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241676G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4110G>C	4.37:g.126241676G>C							p.G1370G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4110	+			1370			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4110G>C	CCDS3732.3																																																																																				0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		25	152	0	0	0	0.00333	0	25	152				
PCDH10	57575	broad.mit.edu	37	4	134073223	134073223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:134073223G>T	ENST00000264360.5	+	1	2754	c.1928G>T	c.(1927-1929)cGa>cTa	p.R643L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACAGCACGCCGAGTCCCGGCC	0.667																																							uc003iha.2		NA																	0				ovary(2)	2						c.(1927-1929)CGA>CTA		protocadherin 10 isoform 1 precursor							27.0	31.0	30.0					4																	134073223		2186	4278	6464	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073223G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1928G>T	4.37:g.134073223G>T	ENSP00000264360:p.Arg643Leu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R643L	p.R643L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2754	+			643			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1928G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301460	0.40694	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.39985	N	0.001214	T	0.43853	0.1266	L	0.33668	1.02	0.47778	D	0.999511	P;B	0.47350	0.894;0.032	P;B	0.47044	0.535;0.069	T	0.24440	-1.0160	10	0.32370	T	0.25	.	7.835	0.29365	0.1851:0.0:0.8149:0.0	.	643;643	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	643	ENSP00000264360:R643L	ENSP00000264360:R643L	R	+	2	0	PCDH10	134292673	0.990000	0.36364	1.000000	0.80357	0.800000	0.45204	3.342000	0.52159	2.207000	0.71202	0.655000	0.94253	CGA		0.667	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		16	42	1	0	1.5739e-10	0.004007	2.19763e-10	16	42				
TBC1D9	23158	broad.mit.edu	37	4	141555266	141555266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:141555266A>C	ENST00000442267.2	-	16	2656	c.2582T>G	c.(2581-2583)cTg>cGg	p.L861R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	861							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATACTGTTCCAGGTAGGGCAG	0.552																																							uc010ioj.2		NA																	0				ovary(1)	1						c.(2581-2583)CTG>CGG		TBC1 domain family, member 9 (with GRAM domain)							70.0	71.0	71.0					4																	141555266		2126	4247	6373	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141555266A>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2582T>G	4.37:g.141555266A>C	ENSP00000411197:p.Leu861Arg						p.L861R	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			16	2854	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	861					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.2582T>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.549479	0.45383	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	6.02	6.02	0.97574	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.50069	0.1594	M	0.76838	2.35	0.80722	D	1	P	0.47350	0.894	B	0.37387	0.248	T	0.58301	-0.7660	10	0.48119	T	0.1	-5.4583	16.5446	0.84426	1.0:0.0:0.0:0.0	.	861	Q6ZT07	TBCD9_HUMAN	R	861	ENSP00000411197:L861R	ENSP00000411197:L861R	L	-	2	0	TBC1D9	141774716	1.000000	0.71417	0.962000	0.40283	0.002000	0.02628	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	CTG		0.552	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		12	46	0	0	0	0.000978	0	12	46				
GATB	5188	broad.mit.edu	37	4	152682016	152682016	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:152682016C>G	ENST00000515812.1	-	1	135	c.119G>C	c.(118-120)aGg>aCg	p.R40T	PET112_ENST00000263985.6_Missense_Mutation_p.R40T|PET112_ENST00000508611.1_Missense_Mutation_p.R40T|PET112_ENST00000512306.1_Missense_Mutation_p.R40T																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GCTCTCTCCCCTAATCTGGTT	0.597																																							uc003iml.2		NA																	0					0						c.(118-120)AGG>ACG		PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						60.0	59.0	59.0					4																	152682016		2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152682016C>G																												ENST00000515812.1:c.119G>C	4.37:g.152682016C>G	ENSP00000426859:p.Arg40Thr					PET112L_uc003imm.3_Missense_Mutation_p.R40T	p.R40T	NM_004564	NP_004555	O75879	GATB_HUMAN			1	131	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	40						Missense_Mutation	SNP	ENST00000515812.1	37	c.119G>C		.	.	.	.	.	.	.	.	.	.	C	16.29	3.080827	0.55753	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.51574	0.84;0.79;0.81;0.7	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	T	0.57829	0.2080	L	0.32530	0.975	0.33567	D	0.598146	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.67760	-0.5587	10	0.87932	D	0	-21.4818	14.4363	0.67282	0.0:1.0:0.0:0.0	.	40;40	D6RDU9;O75879	.;GATB_HUMAN	T	40	ENSP00000263985:R40T;ENSP00000426859:R40T;ENSP00000420831:R40T;ENSP00000421105:R40T	ENSP00000263985:R40T	R	-	2	0	PET112	152901466	0.592000	0.26832	0.992000	0.48379	0.403000	0.30841	1.268000	0.33062	2.778000	0.95560	0.650000	0.86243	AGG		0.597	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			13	51	0	0	0	0.00245	0	13	51				
DCHS2	54798	broad.mit.edu	37	4	155250852	155250852	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:155250852G>T	ENST00000357232.4	-	11	2375	c.2376C>A	c.(2374-2376)atC>atA	p.I792I	DCHS2_ENST00000339452.1_Silent_p.I1247I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	792	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCACCCAATTGATTAACTCTC	0.552																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2374-2376)ATC>ATA		dachsous 2 isoform 1							75.0	62.0	66.0					4																	155250852		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155250852G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2376C>A	4.37:g.155250852G>T						DCHS2_uc003inx.2_Silent_p.I1247I	p.I792I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	11	2376	-	all_hematologic(180;0.208)	Renal(120;0.0854)	792			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.2376C>A	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		8	49	1	0	0.000442599	0.006214	0.000486472	8	49				
MAP9	79884	broad.mit.edu	37	4	156294509	156294509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:156294509G>A	ENST00000311277.4	-	4	523	c.260C>T	c.(259-261)tCa>tTa	p.S87L	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S87L|MAP9_ENST00000379248.2_Missense_Mutation_p.S15L	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	87					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAATAGTTTTGAAGGATTCTT	0.328																																							uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(259-261)TCA>TTA		aster-associated protein							85.0	86.0	85.0					4																	156294509		2202	4300	6502	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156294509G>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.260C>T	4.37:g.156294509G>A	ENSP00000310593:p.Ser87Leu					MAP9_uc011cin.1_Missense_Mutation_p.S87L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S87L|MAP9_uc010iqb.1_Missense_Mutation_p.S15L	p.S87L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	4	524	-	all_hematologic(180;0.24)	Renal(120;0.0458)	87					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.260C>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138086	0.37728	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	5.84	5.84	0.93424	.	0.251806	0.34110	N	0.004257	T	0.07369	0.0186	N	0.08118	0	0.29688	N	0.84113	B;P;B;B	0.47302	0.435;0.893;0.241;0.241	B;P;B;B	0.45881	0.107;0.496;0.107;0.107	T	0.09271	-1.0682	10	0.46703	T	0.11	-3.7229	15.6347	0.76944	0.0:0.0:1.0:0.0	.	87;15;87;87	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	L	87;87;87;87;15	ENSP00000310593:S87L;ENSP00000427402:S87L;ENSP00000394048:S87L;ENSP00000368550:S15L	ENSP00000310593:S87L	S	-	2	0	MAP9	156513959	0.998000	0.40836	0.851000	0.33527	0.024000	0.10985	3.000000	0.49481	2.763000	0.94921	0.557000	0.71058	TCA		0.328	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		8	38	0	0	0	0.00308	0	8	38				
GUCY1A3	2982	broad.mit.edu	37	4	156651382	156651382	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:156651382A>T	ENST00000296518.7	+	10	2281	c.2072A>T	c.(2071-2073)tAg>tTg	p.*691L	GUCY1A3_ENST00000506455.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000455639.2_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000511108.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000513574.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000393832.3_Nonstop_Mutation_p.*433L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	0					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAATAGATTAGCAACCTATA	0.388																																							uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2071-2073)TAG>TTG		guanylate cyclase 1, soluble, alpha 3 isoform A							56.0	60.0	59.0					4																	156651382		2202	4297	6499	SO:0001578	stop_lost	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156651382A>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.2072A>T	4.37:g.156651382A>T	ENSP00000296518:p.*691Leuext*15					GUCY1A3_uc003iow.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc010iqd.2_Nonstop_Mutation_p.*690L|GUCY1A3_uc003iox.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc003ioz.2_Nonstop_Mutation_p.*456L|GUCY1A3_uc003ioy.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc010iqe.2_Nonstop_Mutation_p.*456L|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Nonstop_Mutation_p.*691L	p.*691L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	11	2608	+	all_hematologic(180;0.24)	Renal(120;0.0854)	691					D3DP19|D6RDW3|O43843|Q8TAH3	Nonstop_Mutation	SNP	ENST00000296518.7	37	c.2072A>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169773	0.38315	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.522	0.44924	0.9281:0.0:0.0719:0.0	.	.	.	.	L	691;691;691;433;691;691	.	.	X	+	2	0	GUCY1A3	156870832	0.995000	0.38212	0.929000	0.37066	0.291000	0.27294	3.612000	0.54142	2.228000	0.72767	0.528000	0.53228	TAG		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			7	45	0	0	0	0.001984	0	7	45				
FSTL5	56884	broad.mit.edu	37	4	162459336	162459336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:162459336C>T	ENST00000306100.5	-	10	1730	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	432						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTAGCAGAGTCTTCCACAAAA	0.403																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1294-1296)GAC>AAC		follistatin-like 5 isoform a							250.0	230.0	236.0					4																	162459336		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162459336C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1294G>A	4.37:g.162459336C>T	ENSP00000305334:p.Asp432Asn					FSTL5_uc003iqi.2_Missense_Mutation_p.D431N|FSTL5_uc010iqv.2_Missense_Mutation_p.D431N	p.D432N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	10	1730	-	all_hematologic(180;0.24)		432					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1294G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067672	0.93898	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74315	-0.83;-0.81;-0.8;-0.81	5.17	5.17	0.71159	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.982;0.957	D	0.87118	0.2189	10	0.72032	D	0.01	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	431;431;432	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	432;431;431;431	ENSP00000305334:D432N;ENSP00000368462:D431N;ENSP00000389270:D431N;ENSP00000440409:D431N	ENSP00000305334:D432N	D	-	1	0	FSTL5	162678786	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	GAC		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		21	191	0	0	0	0.001882	0	21	191				
NPY5R	4889	broad.mit.edu	37	4	164271597	164271597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:164271597G>A	ENST00000515560.1	+	4	1694	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	NPY5R_ENST00000338566.3_Missense_Mutation_p.G58R|NPY5R_ENST00000506953.1_Missense_Mutation_p.G58R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	58					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.G58W(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGCTTTATGGGGAATCTACT	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)	Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(172-174)GGG>AGG		neuropeptide Y receptor Y5							150.0	146.0	147.0					4																	164271597		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271597G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.172G>A	4.37:g.164271597G>A	ENSP00000423917:p.Gly58Arg						p.G58R	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	354	+	all_hematologic(180;0.166)	Prostate(90;0.109)	58			Helical; Name=1; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.172G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597804	0.87055	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.56941	0.43;0.43;0.43	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.81898	0.4920	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87140	0.2202	10	0.87932	D	0	.	19.4352	0.94788	0.0:0.0:1.0:0.0	.	58	Q15761	NPY5R_HUMAN	R	58	ENSP00000339377:G58R;ENSP00000423917:G58R;ENSP00000423474:G58R	ENSP00000339377:G58R	G	+	1	0	NPY5R	164491047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.291000	0.96070	2.668000	0.90789	0.655000	0.94253	GGG		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		25	156	0	0	0	0.003954	0	25	156				
TRAPPC11	60684	broad.mit.edu	37	4	184606247	184606247	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:184606247G>A	ENST00000334690.6	+	16	1780	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	TRAPPC11_ENST00000357207.4_Silent_p.L526L|TRAPPC11_ENST00000512476.1_Silent_p.L132L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	526					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CTTCAACTCTGAAAGATGACC	0.294																																							uc003ivx.2		NA																	0					0						c.(1576-1578)CTG>CTA		hypothetical protein LOC60684 isoform a							74.0	81.0	78.0					4																	184606247		2201	4300	6501	SO:0001819	synonymous_variant	60684							g.chr4:184606247G>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1578G>A	4.37:g.184606247G>A						C4orf41_uc003ivw.2_Silent_p.L526L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L132L	p.L526L	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	16	1754	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	526					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.1578G>A	CCDS34112.1																																																																																				0.294	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		10	40	0	0	0	0.001368	0	10	40				
MTNR1A	4543	broad.mit.edu	37	4	187455522	187455522	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:187455522C>A	ENST00000307161.5	-	2	575	c.374G>T	c.(373-375)cGc>cTc	p.R125L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	125					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGTAGCGGTTGATGGC	0.567																																							uc003izd.1		NA																	0				ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(373-375)CGC>CTC		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						167.0	120.0	136.0					4																	187455522		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455522C>A		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.374G>T	4.37:g.187455522C>A	ENSP00000302811:p.Arg125Leu						p.R125L	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	392	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	125			Cytoplasmic (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.374G>T	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135259	0.77662	.	.	ENSG00000168412	ENST00000307161	D	0.97161	-4.27	5.3	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	H	0.99404	4.55	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98455	1.0593	10	0.87932	D	0	-16.4491	13.9204	0.63928	0.0:0.9263:0.0:0.0737	.	125	P48039	MTR1A_HUMAN	L	125	ENSP00000302811:R125L	ENSP00000302811:R125L	R	-	2	0	MTNR1A	187692516	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.670000	0.83925	1.238000	0.43771	0.655000	0.94253	CGC		0.567	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			10	28	1	0	2.17888e-05	0.006214	2.56299e-05	10	28				
TRIP13	9319	broad.mit.edu	37	5	917141	917141	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:917141G>C	ENST00000166345.3	+	13	1578	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	408					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGTCACCATAGAGGGGTTCCT	0.592																																							uc003jbr.2		NA																	0					0						c.(1222-1224)GAG>CAG		thyroid hormone receptor interactor 13							84.0	79.0	81.0					5																	917141		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:917141G>C	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1222G>C	5.37:g.917141G>C	ENSP00000166345:p.Glu408Gln						p.E408Q	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		13	1332	+			408					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.1222G>C	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103325	0.20632	.	.	ENSG00000071539	ENST00000166345;ENST00000354240	D	0.94758	-3.51	5.35	5.35	0.76521	.	0.245701	0.46758	D	0.000274	D	0.85873	0.5798	N	0.08118	0	0.35018	D	0.757526	B	0.29341	0.242	B	0.26969	0.075	D	0.86364	0.1719	10	0.30078	T	0.28	-6.9671	10.6263	0.45510	0.1228:0.0:0.8772:0.0	.	408	Q15645	PCH2_HUMAN	Q	408;172	ENSP00000166345:E408Q	ENSP00000166345:E408Q	E	+	1	0	TRIP13	970141	0.998000	0.40836	0.976000	0.42696	0.976000	0.68499	1.915000	0.39976	2.499000	0.84300	0.655000	0.94253	GAG		0.592	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		12	77	0	0	0	0.001855	0	12	77				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																							uc010itg.1		NA																	0					0						c.(196-198)GCA>ACA		Homo sapiens cDNA clone IMAGE:40127561.																																						728609							g.chr5:1593264C>T																													5.37:g.1593264C>T						SDHAP3_uc011cme.1_RNA	p.A66T							2	273	-									Missense_Mutation	SNP	ENST00000605200.1	37	c.196G>A																																																																																					0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			5	67	0	0	0	0.00308	0	5	67				
C5orf38	153571	broad.mit.edu	37	5	2753469	2753469	+	Splice_Site	SNP	G	G	T	rs571510621		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:2753469G>T	ENST00000334000.3	+	3	521	c.404G>T	c.(403-405)cGc>cTc	p.R135L	IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.R135L|C5orf38_ENST00000397835.4_Intron|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000515640.1_Missense_Mutation_p.R135L|IRX2_ENST00000382611.6_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	135						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCAGGCTCCCGGTAGGCGCGG	0.657																																							uc003jdc.2		NA																	0					0						c.(403-405)CGC>CTC		hypothetical protein LOC153571 precursor							92.0	83.0	86.0					5																	2753469		2203	4300	6503	SO:0001630	splice_region_variant	153571					extracellular region		g.chr5:2753469G>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.404+1G>T	5.37:g.2753469G>T						C5orf38_uc011cmg.1_Missense_Mutation_p.R135L|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	p.R135L	NM_178569	NP_848664	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	521	+			135						Missense_Mutation	SNP	ENST00000334000.3	37	c.404G>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	5.954	0.360056	0.11296	.	.	ENSG00000186493	ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	1.21	-0.9	0.10544	.	.	.	.	.	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.28900	0.227	B	0.21360	0.034	T	0.15723	-1.0427	8	0.87932	D	0	.	4.1648	0.10301	0.4613:0.0:0.5387:0.0	.	135	Q86SI9	CEI_HUMAN	L	135	.	ENSP00000334267:R135L	R	+	2	0	C5orf38	2806469	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.596000	0.05720	-0.327000	0.08551	0.205000	0.17691	CGC;CGG;CGG		0.657	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569	Missense_Mutation	11	101	1	0	0.000978159	0.000978	0.00105815	11	101				
ADAMTS16	170690	broad.mit.edu	37	5	5242206	5242206	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:5242206A>T	ENST00000274181.7	+	17	2702	c.2564A>T	c.(2563-2565)tAc>tTc	p.Y855F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	855	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGGGAATACTCCATGCCT	0.542																																							uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2563-2565)TAC>TTC		ADAM metallopeptidase with thrombospondin type 1							57.0	63.0	61.0					5																	5242206		1948	4144	6092	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242206A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2564A>T	5.37:g.5242206A>T	ENSP00000274181:p.Tyr855Phe					ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y855F	p.Y855F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2702	+			855			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2564A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	7.092	0.572332	0.13623	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.55234	0.53	5.73	1.78	0.24846	ADAM-TS Spacer 1 (1);	0.145896	0.47455	N	0.000236	T	0.44932	0.1317	L	0.46157	1.445	0.44660	D	0.997649	B;B	0.27286	0.067;0.174	B;B	0.35655	0.044;0.207	T	0.14008	-1.0488	10	0.16420	T	0.52	.	10.2563	0.43399	0.6188:0.0:0.0:0.3812	.	855;855	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	F	855	ENSP00000274181:Y855F	ENSP00000274181:Y855F	Y	+	2	0	ADAMTS16	5295206	1.000000	0.71417	0.101000	0.21167	0.355000	0.29361	4.816000	0.62642	0.062000	0.16340	0.524000	0.50904	TAC		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	74	0	0	0	0.000602	0	4	74				
ADCY2	108	broad.mit.edu	37	5	7773086	7773086	+	Silent	SNP	C	C	T	rs373885666		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:7773086C>T	ENST00000338316.4	+	18	2345	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	ADCY2_ENST00000537121.1_Silent_p.S572S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	752					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.S752S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCCTGTTCCGTGTTCCTGC	0.493																																							uc003jdz.1		NA																	1	Substitution - coding silent(1)	p.S752F(1)	lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2254-2256)TCC>TCT		adenylate cyclase 2		C		1,4405	2.1+/-5.4	0,1,2202	293.0	249.0	264.0		2256	-9.7	0.1	5		264	0,8600		0,0,4300	no	coding-synonymous	ADCY2	NM_020546.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		752/1092	7773086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773086C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2256C>T	5.37:g.7773086C>T						ADCY2_uc011cmo.1_Silent_p.S572S	p.S752S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2323	+			752			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2256C>T	CCDS3872.2																																																																																				0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		23	234	0	0	0	0.00333	0	23	234				
ROPN1L	83853	broad.mit.edu	37	5	10461347	10461347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:10461347G>T	ENST00000503804.1	+	5	990	c.469G>T	c.(469-471)Gag>Tag	p.E157*	ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.E157*|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	157					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GGACGATCCGGAGGGCGGGCC	0.567																																							uc003jex.3		NA																	0				ovary(1)	1						c.(469-471)GAG>TAG		ropporin 1-like							102.0	92.0	96.0					5																	10461347		2203	4300	6503	SO:0001587	stop_gained	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461347G>T	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.469G>T	5.37:g.10461347G>T	ENSP00000421405:p.Glu157*						p.E157*	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			4	740	+			157					D3DTC9|Q9BZX0	Nonsense_Mutation	SNP	ENST00000503804.1	37	c.469G>T	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069866	0.76301	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	.	.	.	5.01	5.01	0.66863	.	0.105878	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.0166	15.2681	0.73678	0.0:0.0:1.0:0.0	.	.	.	.	X	157	.	ENSP00000274134:E157X	E	+	1	0	ROPN1L	10514347	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	6.362000	0.73077	2.321000	0.78463	0.563000	0.77884	GAG		0.567	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		73	90	1	0	2.51111e-31	0.00361	4.3426e-31	73	90				
CTNND2	1501	broad.mit.edu	37	5	11346640	11346640	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:11346640T>C	ENST00000304623.8	-	9	1661	c.1472A>G	c.(1471-1473)tAt>tGt	p.Y491C	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y491C|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y400C|CTNND2_ENST00000503622.1_Missense_Mutation_p.Y154C|CTNND2_ENST00000458100.2_Missense_Mutation_p.Y58C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	491					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCGGCGGCATAGCTGGCCCT	0.657																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1471-1473)TAT>TGT		catenin (cadherin-associated protein), delta 2							60.0	65.0	63.0					5																	11346640		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346640T>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1472A>G	5.37:g.11346640T>C	ENSP00000307134:p.Tyr491Cys					CTNND2_uc010itt.2_Missense_Mutation_p.Y400C|CTNND2_uc011cmy.1_Missense_Mutation_p.Y154C|CTNND2_uc011cmz.1_Missense_Mutation_p.Y58C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Y58C	p.Y491C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1617	-			491					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1472A>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070155	0.55539	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.81247	-1.39;-1.47;-1.39;-1.38;-1.39	5.8	4.63	0.57726	.	0.243990	0.35585	N	0.003101	T	0.80093	0.4560	L	0.58101	1.795	0.42390	D	0.992522	P;B;D	0.59357	0.845;0.214;0.985	B;B;P	0.46796	0.161;0.115;0.527	T	0.80594	-0.1313	10	0.54805	T	0.06	-8.9556	12.405	0.55434	0.1261:0.0:0.0:0.8739	.	154;58;491	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	C	491;491;400;58;154	ENSP00000307134:Y491C;ENSP00000352661:Y491C;ENSP00000426510:Y400C;ENSP00000391155:Y58C;ENSP00000426887:Y154C	ENSP00000307134:Y491C	Y	-	2	0	CTNND2	11399640	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	4.846000	0.62860	1.012000	0.39366	0.477000	0.44152	TAT		0.657	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	115	0	0	0	0.001984	0	7	115				
CTNND2	1501	broad.mit.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:11364993C>T	ENST00000304623.8	-	8	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	396					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1186-1188)CGA>CAA		catenin (cadherin-associated protein), delta 2							39.0	44.0	42.0					5																	11364993		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364993C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1187G>A	5.37:g.11364993C>T	ENSP00000307134:p.Arg396Gln					CTNND2_uc010itt.2_Missense_Mutation_p.R305Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R59Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	p.R396Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			8	1332	-			396			ARM 1.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1187G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323778	0.95708	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.81078	-1.35;-1.45;-1.38;-1.26	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000021	D	0.86781	0.6015	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	D	0.86607	0.1870	10	0.51188	T	0.08	-14.5688	19.3321	0.94295	0.0:1.0:0.0:0.0	.	59;396	B4DRK2;Q9UQB3	.;CTND2_HUMAN	Q	396;396;305;59;136	ENSP00000307134:R396Q;ENSP00000352661:R396Q;ENSP00000426510:R305Q;ENSP00000426887:R59Q	ENSP00000307134:R396Q	R	-	2	0	CTNND2	11417993	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.487000	0.81328	2.581000	0.87130	0.655000	0.94253	CGA		0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	76	0	0	0	0.001984	0	7	76				
TRIO	7204	broad.mit.edu	37	5	14481375	14481375	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:14481375G>T	ENST00000344204.4	+	44	6393	c.6369G>T	c.(6367-6369)ctG>ctT	p.L2123L	TRIO_ENST00000537187.1_Silent_p.L2123L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2123	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGCCAGCCTGGATACATCAG	0.468																																							uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6367-6369)CTG>CTT		triple functional domain (PTPRF interacting)							153.0	163.0	160.0					5																	14481375		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14481375G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6369G>T	5.37:g.14481375G>T						TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.L1772L	p.L2123L	NM_007118	NP_009049	O75962	TRIO_HUMAN			44	6375	+	Lung NSC(4;0.000742)		2123			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6369G>T	CCDS3883.1																																																																																				0.468	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		22	277	1	0	3.62473e-10	0.001882	4.96016e-10	22	277				
FBXL7	23194	broad.mit.edu	37	5	15500789	15500789	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:15500789G>T	ENST00000504595.1	+	1	485	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C	FBXL7_ENST00000510662.1_5'Flank	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	2					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACAGGATGGGCGCGAACAA	0.697																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(4-6)GGC>TGC		F-box and leucine-rich repeat protein 7							97.0	120.0	113.0					5																	15500789		2102	4211	6313	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15500789G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.4G>T	5.37:g.15500789G>T	ENSP00000423630:p.Gly2Cys						p.G2C	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			1	485	+			2					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.4G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819104	0.71028	.	.	ENSG00000183580	ENST00000504595	T	0.17054	2.3	4.31	4.31	0.51392	.	.	.	.	.	T	0.26340	0.0643	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.04373	-1.0956	9	0.87932	D	0	.	12.2742	0.54724	0.0:0.0:1.0:0.0	.	2	Q9UJT9	FBXL7_HUMAN	C	2	ENSP00000423630:G2C	ENSP00000423630:G2C	G	+	1	0	FBXL7	15553789	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.139000	0.64801	1.921000	0.55644	0.491000	0.48974	GGC		0.697	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		27	195	1	0	1.55811e-20	0.008361	2.5651e-20	27	195				
CDH12	1010	broad.mit.edu	37	5	21783467	21783467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:21783467T>A	ENST00000382254.1	-	11	2479	c.1393A>T	c.(1393-1395)Agt>Tgt	p.S465C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Splice_Site_p.S425C|CDH12_ENST00000504376.2_Splice_Site_p.S465C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	465	Cadherin 4. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATACTTACTAACTTTACTC	0.368										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1393-1395)AGT>TGT		cadherin 12, type 2 preproprotein							143.0	140.0	141.0					5																	21783467		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21783467T>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1393+1A>T	5.37:g.21783467T>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.S425C|CDH12_uc003jgk.2_Missense_Mutation_p.S465C	p.S465C	NM_004061	NP_004052	P55289	CAD12_HUMAN			8	1851	-			465			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1393A>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253067	0.80135	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62232	0.04;0.04;0.04	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.083979	0.85682	D	0.000000	T	0.72399	0.3455	L	0.53671	1.685	0.58432	D	0.999999	D;D	0.69078	0.985;0.997	P;P	0.61275	0.886;0.87	T	0.71899	-0.4453	9	.	.	.	.	15.6752	0.77311	0.0:0.0:0.0:1.0	.	425;465	B7Z2U6;P55289	.;CAD12_HUMAN	C	465;465;425	ENSP00000423577:S465C;ENSP00000371689:S465C;ENSP00000428786:S425C	.	S	-	1	0	CDH12	21819224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.099000	0.63709	0.533000	0.62120	AGT		0.368	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	14	107	0	0	0	0.003163	0	14	107				
CDH9	1007	broad.mit.edu	37	5	26885753	26885753	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:26885753C>T	ENST00000231021.4	-	11	2024	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	618					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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTAGAATCGCAACGAGAGCT	0.512																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1852-1854)GCG>ACG		cadherin 9, type 2 preproprotein							76.0	66.0	69.0					5																	26885753		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885753C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1852G>A	5.37:g.26885753C>T	ENSP00000231021:p.Ala618Thr					CDH9_uc011cnv.1_Missense_Mutation_p.A211T	p.A618T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2021	-			618			Helical; (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1852G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423729	0.96111	.	.	ENSG00000113100	ENST00000231021	T	0.62941	-0.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83022	0.5164	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.979;0.992	D	0.84569	0.0654	9	.	.	.	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	211;618	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	618	ENSP00000231021:A618T	.	A	-	1	0	CDH9	26921510	1.000000	0.71417	0.727000	0.30756	0.942000	0.58702	7.781000	0.85668	2.797000	0.96272	0.563000	0.77884	GCG		0.512	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	41	0	0	0	0.000602	0	5	41				
NPR3	4883	broad.mit.edu	37	5	32712470	32712470	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:32712470C>A	ENST00000265074.8	+	1	931	c.588C>A	c.(586-588)caC>caA	p.H196Q	NPR3_ENST00000415167.2_Missense_Mutation_p.H196Q|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	196					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCACCACCACTGGAGCCGCG	0.642																																							uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)CAC>CAA		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						40.0	46.0	44.0					5																	32712470		2084	4204	6288	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712470C>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.588C>A	5.37:g.32712470C>A	ENSP00000265074:p.His196Gln					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.H196Q	p.H196Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	806	+			196			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.588C>A	CCDS56357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.496|8.496	0.863182|0.863182	0.17250|0.17250	.|.	.|.	ENSG00000113389|ENSG00000113389	ENST00000265074;ENST00000415167|ENST00000507141	D;D|.	0.81821|.	-1.54;-1.54|.	4.89|4.89	-0.0547|-0.0547	0.13813|0.13813	Extracellular ligand-binding receptor (1);|.	0.525219|.	0.22945|.	N|.	0.053730|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.01352|0.01352	-0.895|-0.895	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.07158|0.07158	-1.0787|-1.0787	10|5	0.20519|.	T|.	0.43|.	-8.6087|-8.6087	11.8713|11.8713	0.52520|0.52520	0.0:0.2514:0.5704:0.1782|0.0:0.2514:0.5704:0.1782	.|.	196;196|.	P17342;Q60I31|.	ANPRC_HUMAN;.|.	Q|M	196|12	ENSP00000265074:H196Q;ENSP00000398028:H196Q|.	ENSP00000265074:H196Q|.	H|L	+|+	3|1	2|2	NPR3|NPR3	32748227|32748227	0.880000|0.880000	0.30214|0.30214	0.984000|0.984000	0.44739|0.44739	0.926000|0.926000	0.56050|0.56050	0.244000|0.244000	0.18124|0.18124	-0.207000|-0.207000	0.10187|0.10187	-0.264000|-0.264000	0.10439|0.10439	CAC|CTG		0.642	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		9	111	1	0	5.68852e-11	0.004482	8.00214e-11	9	111				
PRLR	5618	broad.mit.edu	37	5	35066174	35066174	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:35066174A>C	ENST00000382002.5	-	10	1312	c.886T>G	c.(886-888)Ttg>Gtg	p.L296V	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.L296V|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L296V|PRLR_ENST00000511486.1_Missense_Mutation_p.L195V|PRLR_ENST00000342362.5_Missense_Mutation_p.L195V	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	296					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGGCATCCCAAGGCACTCAGT	0.438																																							uc003jjm.2		NA																	0				ovary(2)|skin(1)	3						c.(886-888)TTG>GTG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						51.0	45.0	47.0					5																	35066174		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35066174A>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.886T>G	5.37:g.35066174A>C	ENSP00000371432:p.Leu296Val					PRLR_uc003jjg.1_Missense_Mutation_p.L296V|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.L195V	p.L296V	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1416	-	all_lung(31;3.83e-05)		296			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.886T>G	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123508	0.56613	.	.	ENSG00000113494	ENST00000231423;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T	0.80214	-1.35;-0.92;-0.92;-0.92;-1.32	5.67	1.37	0.22104	.	0.124900	0.56097	D	0.000032	D	0.89726	0.6798	M	0.92507	3.315	0.45554	D	0.998503	D;D;D	0.76494	0.962;0.99;0.999	P;P;D	0.67725	0.448;0.742;0.953	D	0.88998	0.3419	10	0.72032	D	0.01	-2.8013	9.9227	0.41474	0.2611:0.0:0.7389:0.0	.	296;195;296	P16471;P16471-2;P16471-4	PRLR_HUMAN;.;.	V	296;195;296;195;296	ENSP00000231423:L296V;ENSP00000339213:L195V;ENSP00000371432:L296V;ENSP00000422556:L195V;ENSP00000309008:L296V	ENSP00000231423:L296V	L	-	1	2	PRLR	35101931	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	2.653000	0.46691	0.209000	0.20645	-0.274000	0.10170	TTG		0.438	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			6	82	0	0	0	0.001168	0	6	82				
LIFR	3977	broad.mit.edu	37	5	38481840	38481840	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:38481840T>A	ENST00000263409.4	-	20	3313	c.3151A>T	c.(3151-3153)Aac>Tac	p.N1051Y	LIFR_ENST00000453190.2_Missense_Mutation_p.N1051Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1051					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTCACTGTTGCTGTCTATG	0.418			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(3151-3153)AAC>TAC		leukemia inhibitory factor receptor precursor							152.0	143.0	146.0					5																	38481840		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481840T>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3151A>T	5.37:g.38481840T>A	ENSP00000263409:p.Asn1051Tyr					LIFR_uc003jli.2_Missense_Mutation_p.N1051Y	p.N1051Y	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3483	-	all_lung(31;0.00021)		1051			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.3151A>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127446	0.77549	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.60672	0.17;0.17	5.94	5.94	0.96194	.	0.322085	0.40908	D	0.000995	T	0.70718	0.3256	L	0.57536	1.79	0.48236	D	0.999618	D	0.76494	0.999	P	0.60789	0.879	T	0.73382	-0.4000	10	0.72032	D	0.01	-19.2603	16.3908	0.83537	0.0:0.0:0.0:1.0	.	1051	P42702	LIFR_HUMAN	Y	1051	ENSP00000263409:N1051Y;ENSP00000398368:N1051Y	ENSP00000263409:N1051Y	N	-	1	0	LIFR	38517597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.252000	0.65445	2.269000	0.75478	0.455000	0.32223	AAC		0.418	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		139	126	0	0	0	0.00361	0	139	126				
RICTOR	253260	broad.mit.edu	37	5	38950710	38950710	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:38950710C>G	ENST00000357387.3	-	31	3270	c.3240G>C	c.(3238-3240)aaG>aaC	p.K1080N	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1080N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATTTTTATCCTTTATGGGTC	0.383																																							uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3238-3240)AAG>AAC		rapamycin-insensitive companion of mTOR							130.0	135.0	134.0					5																	38950710		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950710C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3240G>C	5.37:g.38950710C>G	ENSP00000349959:p.Lys1080Asn					RICTOR_uc003jlo.2_Missense_Mutation_p.K1080N|RICTOR_uc010ivf.2_Missense_Mutation_p.K795N	p.K1080N	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			31	3264	-	all_lung(31;0.000396)		1080						Missense_Mutation	SNP	ENST00000357387.3	37	c.3240G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332898	0.60853	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.53423	0.64;0.62	5.86	4.99	0.66335	.	0.084931	0.85682	D	0.000000	T	0.63628	0.2527	L	0.53249	1.67	0.54753	D	0.999985	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.67074	-0.5762	10	0.87932	D	0	-15.3037	14.0742	0.64880	0.0:0.9294:0.0:0.0706	.	1080;1080	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1080	ENSP00000349959:K1080N;ENSP00000296782:K1080N	ENSP00000296782:K1080N	K	-	3	2	RICTOR	38986467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.699000	0.37804	1.592000	0.50018	0.650000	0.86243	AAG		0.383	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		22	559	0	0	0	0.010504	0	22	559				
FYB	2533	broad.mit.edu	37	5	39202342	39202342	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:39202342C>T	ENST00000351578.6	-	2	911	c.721G>A	c.(721-723)Gca>Aca	p.A241T	FYB_ENST00000540520.1_Missense_Mutation_p.A251T|FYB_ENST00000512982.1_Missense_Mutation_p.A241T|FYB_ENST00000515010.1_Missense_Mutation_p.A241T|FYB_ENST00000505428.1_Missense_Mutation_p.A241T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	241					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTCCCTTGCTGGTTTTAAA	0.522																																							uc003jls.2		NA																	0				ovary(2)	2						c.(721-723)GCA>ACA		FYN binding protein (FYB-120/130) isoform 2							90.0	90.0	90.0					5																	39202342		1828	4078	5906	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202342C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.721G>A	5.37:g.39202342C>T	ENSP00000316460:p.Ala241Thr					FYB_uc003jlt.2_Missense_Mutation_p.A241T|FYB_uc003jlu.2_Missense_Mutation_p.A241T|FYB_uc011cpl.1_Missense_Mutation_p.A251T	p.A241T	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	788	-	all_lung(31;0.000343)		241					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.721G>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	2.702	-0.270644	0.05716	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.22539	1.96;1.96;1.95;1.95;1.95	6.07	-2.87	0.05700	.	0.812471	0.11356	N	0.572389	T	0.13114	0.0318	L	0.48362	1.52	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35325	-0.9793	10	0.19590	T	0.45	-0.0824	3.3573	0.07173	0.085:0.269:0.3334:0.3126	.	251;241	B4DLN2;O15117	.;FYB_HUMAN	T	241;241;241;241;251;241	ENSP00000316460:A241T;ENSP00000426346:A241T;ENSP00000425845:A241T;ENSP00000427114:A241T;ENSP00000442840:A251T	ENSP00000316460:A241T	A	-	1	0	FYB	39238099	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-0.665000	0.05286	-0.617000	0.05664	-0.137000	0.14449	GCA		0.522	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		238	84	0	0	0	0.00361	0	238	84				
C9	735	broad.mit.edu	37	5	39341744	39341744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:39341744G>T	ENST00000263408.4	-	3	337	c.242C>A	c.(241-243)gCt>gAt	p.A81D	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	81	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCTCCCACAGCGTCGGTGCA	0.448																																							uc003jlv.3		NA																	0					0						c.(241-243)GCT>GAT		complement component 9 precursor							114.0	108.0	110.0					5																	39341744		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341744G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.242C>A	5.37:g.39341744G>T	ENSP00000263408:p.Ala81Asp						p.A81D	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		3	331	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	81			TSP type-1.			Missense_Mutation	SNP	ENST00000263408.4	37	c.242C>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180549	0.57800	.	.	ENSG00000113600	ENST00000263408	T	0.48201	0.82	5.64	3.82	0.43975	.	0.904332	0.09726	N	0.763720	T	0.41373	0.1156	L	0.31120	0.905	0.09310	N	1	P	0.36354	0.549	B	0.43623	0.425	T	0.23976	-1.0173	10	0.12430	T	0.62	-2.6614	10.8642	0.46844	0.0728:0.1309:0.7963:0.0	.	81	P02748	CO9_HUMAN	D	81	ENSP00000263408:A81D	ENSP00000263408:A81D	A	-	2	0	C9	39377501	0.458000	0.25760	0.000000	0.03702	0.014000	0.08584	4.066000	0.57520	0.693000	0.31634	0.650000	0.86243	GCT		0.448	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			7	233	1	0	0.00198382	0.001984	0.0021157	7	233				
C6	729	broad.mit.edu	37	5	41154099	41154099	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:41154099C>A	ENST00000263413.3	-	15	2367	c.2103G>T	c.(2101-2103)cgG>cgT	p.R701R	C6_ENST00000337836.5_Splice_Site_p.R701R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	701	C5b-binding domain.|CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCACTCCGTCCCTGCAAGAG	0.393																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2101-2103)CGG>CGT		complement component 6 precursor							88.0	80.0	83.0					5																	41154099		2203	4300	6503	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41154099C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2102-1G>T	5.37:g.41154099C>A						C6_uc003jml.1_Silent_p.R701R	p.R701R	NM_000065	NP_000056	P13671	CO6_HUMAN			15	2313	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	701			Sushi 1.|C5b-binding domain.			Silent	SNP	ENST00000263413.3	37	c.2103G>T	CCDS3936.1																																																																																				0.393	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Silent	93	42	1	0	6.65942e-36	0.00361	1.15963e-35	93	42				
GHR	2690	broad.mit.edu	37	5	42718570	42718570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:42718570G>C	ENST00000230882.4	+	10	1151	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E134Q|GHR_ENST00000357703.3_Missense_Mutation_p.E299Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	321					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAATTAGAGGAGGTGAACAC	0.313																																							uc003jmt.2		NA																	0				lung(4)|kidney(1)|skin(1)	6						c.(961-963)GAG>CAG		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						125.0	140.0	135.0					5																	42718570		2194	4300	6494	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718570G>C		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.961G>C	5.37:g.42718570G>C	ENSP00000230882:p.Glu321Gln					GHR_uc011cpq.1_Missense_Mutation_p.E134Q	p.E321Q	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1004	+		Myeloproliferative disorder(839;0.00878)	321			Cytoplasmic (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.961G>C	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871632	0.51695	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.52754	0.65;0.65;0.65	6.02	6.02	0.97574	.	0.137360	0.64402	D	0.000004	T	0.59555	0.2202	N	0.25890	0.77	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	T	0.56086	-0.8037	10	0.41790	T	0.15	-21.547	20.5269	0.99230	0.0:0.0:1.0:0.0	.	321	P10912	GHR_HUMAN	Q	321;299;134	ENSP00000230882:E321Q;ENSP00000350335:E299Q;ENSP00000442206:E134Q	ENSP00000230882:E321Q	E	+	1	0	GHR	42754327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.480000	0.73604	2.859000	0.98148	0.591000	0.81541	GAG		0.313	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		54	172	0	0	0	0.00361	0	54	172				
ZFYVE16	9765	broad.mit.edu	37	5	79743953	79743953	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:79743953C>T	ENST00000338008.5	+	7	3013	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945S	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	945					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCTCAGGTTCCATCAGTGGA	0.383																																					Melanoma(150;1452 1854 16018 17851 37292)	Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NA																	0					0						c.(2833-2835)CCA>TCA		zinc finger, FYVE domain containing 16							107.0	105.0	106.0					5																	79743953		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79743953C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2833C>T	5.37:g.79743953C>T	ENSP00000337159:p.Pro945Ser					ZFYVE16_uc003kgp.2_Missense_Mutation_p.P945S|ZFYVE16_uc003kgq.3_Missense_Mutation_p.P945S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.P945S|ZFYVE16_uc003kgt.3_Intron	p.P945S	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	8	3135	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	945					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2833C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489780	0.26686	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.38401	1.14;1.14;1.14	5.43	-2.82	0.05787	.	0.936522	0.08952	N	0.870020	T	0.27134	0.0665	L	0.51422	1.61	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.28933	-1.0028	10	0.31617	T	0.26	-0.2406	6.2559	0.20874	0.0:0.3701:0.3521:0.2778	.	945	Q7Z3T8	ZFY16_HUMAN	S	945	ENSP00000337159:P945S;ENSP00000423663:P945S;ENSP00000426848:P945S	ENSP00000337159:P945S	P	+	1	0	ZFYVE16	79779709	0.000000	0.05858	0.062000	0.19696	0.826000	0.46750	-1.495000	0.02294	-0.420000	0.07427	-0.157000	0.13467	CCA		0.383	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		9	51	0	0	0	0.004482	0	9	51				
DMXL1	1657	broad.mit.edu	37	5	118560423	118560423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:118560423A>G	ENST00000311085.8	+	37	8314	c.8234A>G	c.(8233-8235)aAt>aGt	p.N2745S	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.N2766S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2745										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGCCATTAATAATGTTAGA	0.244																																							uc003ksd.2		NA																	0				ovary(2)	2						c.(8233-8235)AAT>AGT		Dmx-like 1							56.0	60.0	59.0					5																	118560423		2173	4239	6412	SO:0001583	missense	1657							g.chr5:118560423A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8234A>G	5.37:g.118560423A>G	ENSP00000309690:p.Asn2745Ser					DMXL1_uc010jcl.1_Missense_Mutation_p.N2766S|DMXL1_uc010jcm.1_RNA	p.N2745S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	37	8415	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2745			WD 11.			Missense_Mutation	SNP	ENST00000311085.8	37	c.8234A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104328	0.37145	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01265	5.08;5.08	5.22	2.78	0.32641	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01454	0.0047	L	0.33485	1.01	0.47862	D	0.999536	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.58358	-0.7650	10	0.33141	T	0.24	-15.0632	9.8048	0.40786	0.8612:0.0:0.1388:0.0	.	2766;2745	F5H269;Q9Y485	.;DMXL1_HUMAN	S	2745;2766	ENSP00000309690:N2745S;ENSP00000439479:N2766S	ENSP00000309690:N2745S	N	+	2	0	DMXL1	118588322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.050000	0.57404	0.293000	0.22520	0.397000	0.26171	AAT		0.244	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		10	52	0	0	0	0.000978	0	10	52				
MEGF10	84466	broad.mit.edu	37	5	126792830	126792830	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:126792830G>T	ENST00000274473.6	+	26	3510	c.3243G>T	c.(3241-3243)gtG>gtT	p.V1081V	MEGF10_ENST00000503335.2_Silent_p.V1081V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1081	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCTACAGTGAGTGTTGTCC	0.398																																							uc003kuh.3		NA																	0				ovary(4)	4						c.(3241-3243)GTG>GTT		multiple EGF-like-domains 10 precursor							113.0	99.0	104.0					5																	126792830		2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126792830G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3243G>T	5.37:g.126792830G>T						MEGF10_uc003kui.3_Silent_p.V1081V	p.V1081V	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	26	3605	+		Prostate(80;0.165)	1081			Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.3243G>T	CCDS4142.1																																																																																				0.398	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	75	1	0	1.024e-07	0.000602	1.32435e-07	5	75				
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	A	rs148971572	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:127800434C>A	ENST00000508053.1	-	12	1783	c.809G>T	c.(808-810)cGc>cTc	p.R270L	FBN2_ENST00000508989.1_Missense_Mutation_p.R237L|FBN2_ENST00000262464.4_Missense_Mutation_p.R270L			P35556	FBN2_HUMAN	fibrillin 2	270					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(808-810)CGC>CTC		fibrillin 2 precursor							91.0	85.0	87.0					5																	127800434		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800434C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.809G>T	5.37:g.127800434C>A	ENSP00000424571:p.Arg270Leu					FBN2_uc003kuv.2_Missense_Mutation_p.R237L|FBN2_uc003kuw.3_Missense_Mutation_p.R270L|FBN2_uc003kux.1_Missense_Mutation_p.R270L	p.R270L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1248	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	270					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.809G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854582	0.71719	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86865	-2.12;-2.12;-2.18;-0.65	5.07	5.07	0.68467	Matrix fibril-associated (2);	0.153856	0.43110	D	0.000619	D	0.87791	0.6266	N	0.11560	0.145	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;0.993;0.993	D;P;D;D	0.87578	0.998;0.866;0.982;0.982	D	0.89953	0.4081	10	0.56958	D	0.05	.	19.3313	0.94291	0.0:1.0:0.0:0.0	.	237;270;237;270	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	L	270;270;237;270	ENSP00000262464:R270L;ENSP00000424571:R270L;ENSP00000425596:R237L;ENSP00000424753:R270L	ENSP00000262464:R270L	R	-	2	0	FBN2	127828333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.729000	0.84864	2.737000	0.93849	0.585000	0.79938	CGC		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	57	1	0	7.48243e-07	0.006214	9.21855e-07	9	57				
DCANP1	140947	broad.mit.edu	37	5	134785511	134785511	+	5'Flank	SNP	C	C	T	rs533155199		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:134785511C>T	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.R40Q|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCCTGCCCCCGTCCGAGAAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		18739	0.0		0.0	False		,,,				2504	0.001						uc003law.3		NA																	0					0						c.(118-120)CGG>CAG		TIFA-related protein TIFAB							43.0	51.0	48.0					5																	134785511		2118	4219	6337	SO:0001631	upstream_gene_variant	497189							g.chr5:134785511C>T																													5.37:g.134785511C>T	Exception_encountered					C5orf20_uc003lav.2_5'Flank	p.R40Q	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	320	-			40			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.119G>A	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727540	0.48833	.	.	ENSG00000255833	ENST00000537858	D	0.95690	-3.78	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.64402	U	0.000007	D	0.96796	0.8954	L	0.56769	1.78	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91956	0.5575	10	0.87932	D	0	.	13.9492	0.64106	0.0:1.0:0.0:0.0	.	40	Q6ZNK6	TIFAB_HUMAN	Q	40	ENSP00000440509:R40Q	ENSP00000440509:R40Q	R	-	2	0	TIFAB	134813410	0.005000	0.15991	0.047000	0.18901	0.054000	0.15201	0.900000	0.28431	2.426000	0.82243	0.563000	0.77884	CGG		0.662	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			4	56	0	0	0	0.009096	0	4	56				
BRD8	10902	broad.mit.edu	37	5	137501538	137501538	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:137501538G>C	ENST00000254900.5	-	11	1628	c.1257C>G	c.(1255-1257)atC>atG	p.I419M	BRD8_ENST00000411594.2_Missense_Mutation_p.I422M|BRD8_ENST00000402931.1_Missense_Mutation_p.I419M|BRD8_ENST00000455658.2_Missense_Mutation_p.I378M|BRD8_ENST00000230901.5_Missense_Mutation_p.I492M|BRD8_ENST00000515014.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	419					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGATGGCAATGATGTCTCCAA	0.463																																							uc003lcf.1		NA																	0				ovary(1)	1						c.(1255-1257)ATC>ATG		bromodomain containing 8 isoform 2							136.0	136.0	136.0					5																	137501538		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137501538G>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1257C>G	5.37:g.137501538G>C	ENSP00000254900:p.Ile419Met					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.I198M|BRD8_uc003lcg.2_Missense_Mutation_p.I492M|BRD8_uc003lci.2_Missense_Mutation_p.I422M|BRD8_uc003lch.2_Missense_Mutation_p.I313M|BRD8_uc011cym.1_Missense_Mutation_p.I403M|BRD8_uc010jer.1_Missense_Mutation_p.I388M|BRD8_uc011cyn.1_Missense_Mutation_p.I378M	p.I419M	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1312	-			419					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1257C>G	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.60|15.60	2.881788|2.881788	0.51908|0.51908	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898|ENST00000441656	T;T;T;T;T;T;T|.	0.59638|.	0.51;0.26;0.32;0.45;0.29;0.31;0.25|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.44456|.	0.1294|.	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.998;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.999;0.997;0.998;0.991;0.997;0.997;0.996;0.997|.	T|.	0.29852|.	-0.9998|.	10|.	0.72032|.	D|.	0.01|.	-6.4712|-6.4712	6.0225|6.0225	0.19636|0.19636	0.0966:0.0:0.7123:0.1911|0.0966:0.0:0.7123:0.1911	.|.	378;403;198;492;422;313;492;419|.	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	M|X	419;448;417;492;419;422;313;378;38|413	ENSP00000254900:I419M;ENSP00000398067:I448M;ENSP00000398873:I417M;ENSP00000230901:I492M;ENSP00000384845:I419M;ENSP00000394330:I422M;ENSP00000408396:I378M|.	ENSP00000230901:I492M|.	I|S	-|-	3|2	3|0	BRD8|BRD8	137529437|137529437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.446000|1.446000	0.35090|0.35090	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		5	85	0	0	0	0.000602	0	5	85				
HARS2	23438	broad.mit.edu	37	5	140077256	140077256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140077256G>T	ENST00000230771.3	+	11	1523	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	HARS2_ENST00000437649.2_Missense_Mutation_p.D360Y|HARS2_ENST00000448069.2_Missense_Mutation_p.D262Y|HARS2_ENST00000508522.1_Missense_Mutation_p.D409Y|ZMAT2_ENST00000274712.3_5'Flank|HARS2_ENST00000435019.2_Missense_Mutation_p.D394Y|HARS2_ENST00000432671.2_Missense_Mutation_p.D320Y	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	434					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.D434N(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTTTGGGATTCTGGAAT	0.473																																							uc003lgx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1300-1302)GAT>TAT		histidyl-tRNA synthetase 2 precursor							121.0	127.0	125.0					5																	140077256		2203	4300	6503	SO:0001583	missense	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140077256G>T	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1300G>T	5.37:g.140077256G>T	ENSP00000230771:p.Asp434Tyr					HARS2_uc011czr.1_Missense_Mutation_p.D409Y|HARS2_uc011czs.1_Missense_Mutation_p.D290Y|HARS2_uc011czt.1_Missense_Mutation_p.D262Y|HARS2_uc011czu.1_Missense_Mutation_p.D260Y|ZMAT2_uc003lgy.1_5'Flank	p.D434Y	NM_012208	NP_036340	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1516	+			434					B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	c.1300G>T	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.107770	0.56291	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.67	2.98	0.34508	Anticodon-binding (3);	0.194094	0.56097	D	0.000029	D	0.90703	0.7083	M	0.89414	3.03	0.58432	D	0.999992	D;D;D;D;D	0.76494	0.998;0.993;0.997;0.993;0.999	D;D;D;D;D	0.72075	0.964;0.976;0.961;0.976;0.976	D	0.89613	0.3843	10	0.87932	D	0	-1.1668	9.1982	0.37242	0.268:0.0:0.732:0.0	.	287;262;360;409;434	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	Y	434;394;360;320;409;262;273	ENSP00000230771:D434Y;ENSP00000412887:D394Y;ENSP00000411708:D360Y;ENSP00000415007:D320Y;ENSP00000423616:D409Y;ENSP00000407105:D262Y	ENSP00000230771:D434Y	D	+	1	0	HARS2	140057440	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.992000	0.56980	0.357000	0.24183	-0.126000	0.14955	GAT		0.473	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		44	86	1	0	1.62263e-30	0.00361	2.79329e-30	44	86				
PCDHA2	56146	broad.mit.edu	37	5	140175912	140175912	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140175912T>A	ENST00000526136.1	+	1	1363	c.1363T>A	c.(1363-1365)Ttc>Atc	p.F455I	PCDHA2_ENST00000520672.2_Missense_Mutation_p.F455I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F455I|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCGGCGTTCGCACAGCC	0.652																																							uc003lhd.2		NA																	0				ovary(4)	4						c.(1363-1365)TTC>ATC		protocadherin alpha 2 isoform 1 precursor							78.0	78.0	78.0					5																	140175912		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175912T>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1363T>A	5.37:g.140175912T>A	ENSP00000431748:p.Phe455Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.F455I|PCDHA2_uc011czy.1_Missense_Mutation_p.F455I	p.F455I	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1469	+			455			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1363T>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	16.30	3.084396	0.55861	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.79247	-1.25;-1.25;-1.25	3.98	3.98	0.46160	Cadherin (3);Cadherin-like (1);	0.000000	0.41938	U	0.000800	D	0.90748	0.7096	H	0.95712	3.71	0.42428	D	0.992669	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.995;0.994	D	0.93292	0.6669	10	0.87932	D	0	.	13.1729	0.59609	0.0:0.0:0.0:1.0	.	455;455;455	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	I	455	ENSP00000430584:F455I;ENSP00000367372:F455I;ENSP00000431748:F455I	ENSP00000367372:F455I	F	+	1	0	PCDHA2	140156096	1.000000	0.71417	0.772000	0.31596	0.105000	0.19272	6.120000	0.71596	1.564000	0.49628	0.528000	0.53228	TTC		0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		28	62	0	0	0	0.007291	0	28	62				
PCDHA5	56143	broad.mit.edu	37	5	140202127	140202127	+	Missense_Mutation	SNP	G	G	T	rs368780550		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140202127G>T	ENST00000529859.1	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S256I|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S256I|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCAAGTGGGACATTA	0.358																																							uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(766-768)AGT>ATT		protocadherin alpha 5 isoform 1 precursor							64.0	67.0	66.0					5																	140202127		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202127G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.767G>T	5.37:g.140202127G>T	ENSP00000436557:p.Ser256Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.S256I|PCDHA5_uc003lhj.1_Missense_Mutation_p.S256I	p.S256I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	767	+			256			Extracellular (Potential).|Cadherin 3.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.767G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.243321	0.01481	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51817	0.69;0.69;0.69	4.11	-1.28	0.09318	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22166	0.0534	N	0.02697	-0.525	0.09310	N	1	B;B;B	0.14805	0.004;0.006;0.011	B;B;B	0.23018	0.043;0.005;0.005	T	0.25012	-1.0144	9	0.34782	T	0.22	.	9.2193	0.37366	0.6784:0.0:0.3216:0.0	.	256;256;256	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	I	256	ENSP00000433416:S256I;ENSP00000436557:S256I;ENSP00000367366:S256I	ENSP00000367366:S256I	S	+	2	0	PCDHA5	140182311	0.000000	0.05858	0.001000	0.08648	0.529000	0.34654	-2.038000	0.01419	-0.154000	0.11118	-0.768000	0.03414	AGT		0.358	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		30	58	1	0	2.42023e-17	0.003271	3.81769e-17	30	58				
PCDHB6	56130	broad.mit.edu	37	5	140530172	140530172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140530172C>A	ENST00000231136.1	+	1	334	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGAAAACCCCTTGCAGTT	0.473																																							uc003lir.2		NA																	0				skin(1)	1						c.(334-336)CCC>ACC		protocadherin beta 6 precursor							59.0	63.0	62.0					5																	140530172		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530172C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.334C>A	5.37:g.140530172C>A	ENSP00000231136:p.Pro112Thr					PCDHB6_uc011dah.1_5'UTR	p.P112T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	334	+			112			Extracellular (Potential).|Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.334C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596621	0.66332	.	.	ENSG00000113211	ENST00000231136	T	0.56611	0.45	4.85	4.85	0.62838	Cadherin (2);	.	.	.	.	T	0.79776	0.4504	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.85512	0.1198	9	0.87932	D	0	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	112	Q9Y5E3	PCDB6_HUMAN	T	112	ENSP00000231136:P112T	ENSP00000231136:P112T	P	+	1	0	PCDHB6	140510356	0.992000	0.36948	0.656000	0.29637	0.630000	0.37929	4.260000	0.58835	2.394000	0.81467	0.561000	0.74099	CCC		0.473	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		11	58	1	0	3.86212e-05	0.008291	4.48006e-05	11	58				
PCDHGA3	56112	broad.mit.edu	37	5	140725511	140725511	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140725511G>T	ENST00000253812.6	+	1	1911	c.1911G>T	c.(1909-1911)gcG>gcT	p.A637A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701																																							uc003ljm.1		NA																	0				breast(1)	1						c.(1909-1911)GCG>GCT		protocadherin gamma subfamily A, 3 isoform 1							12.0	19.0	17.0					5																	140725511		2108	4222	6330	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725511G>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1911G>T	5.37:g.140725511G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A397A|PCDHGA3_uc011dap.1_Silent_p.A637A	p.A637A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1911	+			637			Extracellular (Potential).|Cadherin 6.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1911G>T	CCDS47290.1																																																																																				0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		23	78	1	0	3.11337e-16	0.002836	4.80058e-16	23	78				
PCDHGA4	56111	broad.mit.edu	37	5	140736090	140736090	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140736090A>T	ENST00000571252.1	+	1	1323	c.1323A>T	c.(1321-1323)caA>caT	p.Q441H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCACTGCAAGTGATGGACA	0.458																																							uc003ljq.1		NA																	0					0						c.(1321-1323)CAA>CAT		protocadherin gamma subfamily A, 4 isoform 1							92.0	95.0	94.0					5																	140736090		2075	4234	6309	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736090A>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1323A>T	5.37:g.140736090A>T	ENSP00000458570:p.Gln441His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q441H	p.Q441H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1323	+			441			Cadherin 4.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1323A>T	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		22	73	0	0	0	0.002299	0	22	73				
NIPAL4	348938	broad.mit.edu	37	5	156899856	156899856	+	Missense_Mutation	SNP	C	C	T	rs371714489		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:156899856C>T	ENST00000311946.7	+	6	1405	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P411L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	430						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TCTCCCGCCCCGGAACCCACT	0.498																																							uc003lwx.3		NA																	0					0						c.(1288-1290)CCG>CTG		ichthyin protein							38.0	38.0	38.0					5																	156899856		1916	4125	6041	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899856C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1289C>T	5.37:g.156899856C>T	ENSP00000311687:p.Pro430Leu					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.P411L	p.P430L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	1405	+			430			Cytoplasmic (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1289C>T	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390767	0.25118	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.89939	-2.54;-2.59	5.93	5.93	0.95920	.	0.521656	0.23955	N	0.042907	D	0.84469	0.5479	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.59357	0.972;0.985	B;P	0.45138	0.286;0.471	T	0.81400	-0.0950	10	0.08837	T	0.75	-12.6122	17.8376	0.88704	0.0:1.0:0.0:0.0	.	411;430	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	411;430	ENSP00000406456:P411L;ENSP00000311687:P430L	ENSP00000311687:P430L	P	+	2	0	NIPAL4	156832434	0.729000	0.28090	0.074000	0.20217	0.011000	0.07611	2.044000	0.41241	2.815000	0.96918	0.561000	0.74099	CCG		0.498	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		12	22	0	0	0	0.000978	0	12	22				
ATP10B	23120	broad.mit.edu	37	5	159992831	159992831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:159992831G>T	ENST00000327245.5	-	26	4861	c.4015C>A	c.(4015-4017)Cca>Aca	p.P1339T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1339					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTGTCTGGGGGGAGTTTG	0.478																																							uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4015-4017)CCA>ACA		ATPase, class V, type 10B							113.0	115.0	115.0					5																	159992831		1815	4083	5898	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992831G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4015C>A	5.37:g.159992831G>T	ENSP00000313600:p.Pro1339Thr					ATP10B_uc010jit.1_Missense_Mutation_p.P589T	p.P1339T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	4862	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1339			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4015C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	4.755	0.140322	0.09083	.	.	ENSG00000118322	ENST00000327245	T	0.41065	1.01	5.65	-0.849	0.10723	.	1.184860	0.06099	N	0.665133	T	0.22781	0.0550	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	9	.	.	.	.	5.1696	0.15103	0.0:0.3202:0.1535:0.5263	.	1339	O94823	AT10B_HUMAN	T	1339	ENSP00000313600:P1339T	.	P	-	1	0	ATP10B	159925409	0.031000	0.19500	0.005000	0.12908	0.453000	0.32348	0.131000	0.15870	-0.343000	0.08351	-0.285000	0.09966	CCA		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		43	112	1	0	6.5261e-18	0.00874	1.03159e-17	43	112				
GABRA6	2559	broad.mit.edu	37	5	161116110	161116110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:161116110C>A	ENST00000274545.5	+	4	814	c.381C>A	c.(379-381)caC>caA	p.H127Q	GABRA6_ENST00000523217.1_Missense_Mutation_p.H117Q|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	127					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCATTGCTCACAACATGACAA	0.398										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(379-381)CAC>CAA		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						64.0	64.0	64.0					5																	161116110		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116110C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.381C>A	5.37:g.161116110C>A	ENSP00000274545:p.His127Gln	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.H127Q	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	719	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	127			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.381C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.424659|3.424659	0.62733|0.62733	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.80214|.	-1.35;-1.35;-1.35;-1.35|.	5.65|5.65	2.44|2.44	0.29823|0.29823	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76414|0.76414	0.3984|0.3984	M|M	0.87682|0.87682	2.9|2.9	0.53688|0.53688	D|D	0.999971|0.999971	D|.	0.76494|.	0.999|.	D|.	0.79784|.	0.993|.	T|T	0.78775|0.78775	-0.2072|-0.2072	10|5	0.87932|.	D|.	0|.	.|.	11.8132|11.8132	0.52194|0.52194	0.0:0.7311:0.0:0.2689|0.0:0.7311:0.0:0.2689	.|.	127|.	Q16445|.	GBRA6_HUMAN|.	Q|K	127;117;74;22|67	ENSP00000274545:H127Q;ENSP00000430527:H117Q;ENSP00000430212:H74Q;ENSP00000427989:H22Q|.	ENSP00000274545:H127Q|.	H|T	+|+	3|2	2|0	GABRA6|GABRA6	161048688|161048688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.103000|2.103000	0.41806|0.41806	0.861000|0.861000	0.35504|0.35504	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			12	47	1	0	6.40141e-05	0.000978	7.38022e-05	12	47				
GABRG2	2566	broad.mit.edu	37	5	161524799	161524799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:161524799C>A	ENST00000361925.4	+	4	703	c.483C>A	c.(481-483)caC>caA	p.H161Q	GABRG2_ENST00000356592.3_Missense_Mutation_p.H161Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.H161Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.H66Q			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	161					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGATGCACACTGGATCACCA	0.428																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(481-483)CAC>CAA		gamma-aminobutyric acid A receptor, gamma 2							98.0	98.0	98.0					5																	161524799		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524799C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.483C>A	5.37:g.161524799C>A	ENSP00000354651:p.His161Gln					GABRG2_uc010jjc.2_Missense_Mutation_p.H161Q|GABRG2_uc003lyy.3_Missense_Mutation_p.H161Q|GABRG2_uc011dej.1_Missense_Mutation_p.H66Q	p.H161Q	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	841	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	161			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.483C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507618	0.64410	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.82	-0.0698	0.13750	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.84219	2.685	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.988;0.993;0.988	D	0.87203	0.2242	10	0.87932	D	0	.	11.4352	0.50064	0.0:0.4466:0.0:0.5534	.	161;161;161	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	161;161;161;66;66	ENSP00000349000:H161Q;ENSP00000410732:H161Q;ENSP00000354651:H161Q;ENSP00000377510:H66Q;ENSP00000430182:H66Q	ENSP00000349000:H161Q	H	+	3	2	GABRG2	161457377	0.700000	0.27796	0.815000	0.32552	0.969000	0.65631	-0.095000	0.11077	-0.078000	0.12730	0.563000	0.77884	CAC		0.428	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			29	80	1	0	4.22769e-11	0.00632	6.00317e-11	29	80				
TENM2	57451	broad.mit.edu	37	5	167617539	167617539	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:167617539C>A	ENST00000518659.1	+	14	2806	c.2767C>A	c.(2767-2769)Cct>Act	p.P923T	TENM2_ENST00000520394.1_Missense_Mutation_p.P691T|TENM2_ENST00000519204.1_Missense_Mutation_p.P802T|TENM2_ENST00000545108.1_Missense_Mutation_p.P923T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.P747T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	923					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGAGAGAACCCTTTCAACAG	0.547																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(2740-2742)CCT>ACT		odz, odd Oz/ten-m homolog 2							53.0	53.0	53.0					5																	167617539		2007	4163	6170	SO:0001583	missense	57451							g.chr5:167617539C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2767C>A	5.37:g.167617539C>A	ENSP00000429430:p.Pro923Thr					ODZ2_uc003lzr.3_Missense_Mutation_p.P691T|ODZ2_uc003lzt.3_Missense_Mutation_p.P287T|ODZ2_uc010jje.2_Missense_Mutation_p.P185T|uc003lzs.1_5'Flank	p.P914T	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	14	2740	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2740C>A		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990364	0.54041	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89050	-1.99;-1.98;-2.09;-2.43;-2.46	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.31065	0.9	0.80722	D	1	P;B;D	0.89917	0.55;0.196;1.0	B;B;D	0.83275	0.259;0.132;0.996	D	0.87931	0.2710	10	0.20046	T	0.44	.	19.8932	0.96939	0.0:1.0:0.0:0.0	.	923;923;691	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	923;923;802;691;747	ENSP00000429430:P923T;ENSP00000438635:P923T;ENSP00000428964:P802T;ENSP00000427874:P691T;ENSP00000384905:P747T	ENSP00000384905:P747T	P	+	1	0	ODZ2	167550117	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.710000	0.92621	0.491000	0.48974	CCT		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	26	1	0	0.000157383	0.00308	0.000177645	7	26				
DDX41	51428	broad.mit.edu	37	5	176943349	176943349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:176943349C>T	ENST00000507955.1	-	3	761	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	80					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACTGAGGGCCTAGCGGGATG	0.612																																							uc003mho.2		NA																	0					0						c.(238-240)GGC>AGC		DEAD-box protein abstrakt							137.0	129.0	132.0					5																	176943349		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943349C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.238G>A	5.37:g.176943349C>T	ENSP00000422753:p.Gly80Ser					DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	p.G80S	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		3	259	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	80					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.238G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293367	0.95546	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.26518	1.73;1.75	5.38	5.38	0.77491	.	0.056933	0.64402	D	0.000001	T	0.46814	0.1412	M	0.74881	2.28	0.80722	D	1	D	0.65815	0.995	P	0.59703	0.862	T	0.34527	-0.9825	10	0.13853	T	0.58	-25.9984	19.1149	0.93334	0.0:1.0:0.0:0.0	.	80	Q9UJV9	DDX41_HUMAN	S	98;80	ENSP00000330349:G98S;ENSP00000422753:G80S	ENSP00000330349:G98S	G	-	1	0	DDX41	176875955	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	7.228000	0.78079	2.513000	0.84729	0.491000	0.48974	GGC		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		45	67	0	0	0	0.002852	0	45	67				
BPHL	670	broad.mit.edu	37	6	3127533	3127533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:3127533C>A	ENST00000380379.5	+	3	318	c.269C>A	c.(268-270)aCg>aAg	p.T90K	BPHL_ENST00000380368.2_Missense_Mutation_p.T73K|BPHL_ENST00000380375.3_Missense_Mutation_p.T73K|BPHL_ENST00000434640.1_Missense_Mutation_p.T73K	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	90					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AAGCTCTTCACGGTGGTCGCC	0.493																																							uc003mva.2		NA																	0					0						c.(268-270)ACG>AAG		biphenyl hydrolase-like precursor							109.0	109.0	109.0					6																	3127533		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3127533C>A	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.269C>A	6.37:g.3127533C>A	ENSP00000369739:p.Thr90Lys					BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.T73K	p.T90K	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			3	318	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	90					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.269C>A	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346677	0.61073	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.43	4.56	0.56223	.	0.044008	0.85682	D	0.000000	T	0.70116	0.3187	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.944	T	0.69091	-0.5237	10	0.27082	T	0.32	0.0194	14.2495	0.66011	0.0:0.9282:0.0:0.0718	.	90;73	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	K	73;73;73;90	ENSP00000390472:T73K;ENSP00000369734:T73K;ENSP00000369726:T73K;ENSP00000369739:T90K	ENSP00000369726:T73K	T	+	2	0	BPHL	3072532	1.000000	0.71417	0.879000	0.34478	0.203000	0.24098	4.376000	0.59556	1.426000	0.47256	0.655000	0.94253	ACG		0.493	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			8	82	1	0	0.000157383	0.00308	0.000177645	8	82				
SLC17A1	6568	broad.mit.edu	37	6	25820019	25820019	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:25820019A>G	ENST00000244527.4	-	4	447	c.332T>C	c.(331-333)aTt>aCt	p.I111T	SLC17A1_ENST00000468082.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000476801.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.I111T	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	111					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGCAAAGCCAATCATTTTCTT	0.453																																							uc003nfh.3		NA																	0				ovary(3)|pancreas(1)	4						c.(331-333)ATT>ACT		solute carrier family 17 (sodium phosphate),							80.0	75.0	77.0					6																	25820019		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25820019A>G		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.332T>C	6.37:g.25820019A>G	ENSP00000244527:p.Ile111Thr					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.I109T|SLC17A1_uc010jqc.1_Missense_Mutation_p.I109T	p.I111T	NM_005074	NP_005065	Q14916	NPT1_HUMAN			4	448	-			111					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.332T>C	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	A	9.294	1.051367	0.19827	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.33	1.99	0.26369	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775970	0.10844	N	0.627933	T	0.34395	0.0896	M	0.64997	1.995	0.09310	N	1	B;B	0.24258	0.082;0.1	B;B	0.29077	0.059;0.098	T	0.45687	-0.9244	10	0.87932	D	0	.	5.442	0.16515	0.7749:0.0:0.2251:0.0	.	111;111	Q14916-2;Q14916	.;NPT1_HUMAN	T	111	ENSP00000244527:I111T;ENSP00000410549:I111T;ENSP00000420614:I111T;ENSP00000420546:I111T	ENSP00000244527:I111T	I	-	2	0	SLC17A1	25927998	0.017000	0.18338	0.007000	0.13788	0.009000	0.06853	2.469000	0.45110	0.823000	0.34589	0.528000	0.53228	ATT		0.453	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			13	80	0	0	0	0.001368	0	13	80				
OR2J2	26707	broad.mit.edu	37	6	29141709	29141709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:29141709G>T	ENST00000377167.2	+	1	399	c.297G>T	c.(295-297)atG>atT	p.M99I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGGTTGCATGGTTCAACTTT	0.478																																							uc011dlm.1		NA																	0					0						c.(295-297)ATG>ATT		olfactory receptor, family 2, subfamily J,							231.0	210.0	217.0					6																	29141709		2041	4183	6224	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141709G>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.297G>T	6.37:g.29141709G>T	ENSP00000366372:p.Met99Ile						p.M99I	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	399	+			99			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.297G>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	3.819	-0.038233	0.07497	.	.	ENSG00000204700	ENST00000377167	T	0.00359	7.87	2.3	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00301	-1.68	0.09310	N	0.999996	B	0.02656	0.0	B	0.12837	0.008	T	0.37033	-0.9723	9	0.46703	T	0.11	.	5.9782	0.19393	0.0:0.1997:0.5986:0.2016	.	99	O76002	OR2J2_HUMAN	I	99	ENSP00000366372:M99I	ENSP00000366372:M99I	M	+	3	0	OR2J2	29249688	0.000000	0.05858	0.985000	0.45067	0.379000	0.30106	-1.774000	0.01784	1.265000	0.44215	0.205000	0.17691	ATG		0.478	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			49	195	1	0	3.4597e-24	0.00361	5.79692e-24	49	195				
OR2J2	26707	broad.mit.edu	37	6	29141788	29141788	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:29141788G>C	ENST00000377167.2	+	1	478	c.376G>C	c.(376-378)Gct>Cct	p.A126P		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCGTTATGTAGCTGTGTGTAG	0.453																																							uc011dlm.1		NA																	0					0						c.(376-378)GCT>CCT		olfactory receptor, family 2, subfamily J,							344.0	321.0	329.0					6																	29141788		2085	4196	6281	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141788G>C		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.376G>C	6.37:g.29141788G>C	ENSP00000366372:p.Ala126Pro						p.A126P	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	478	+			126			Cytoplasmic (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.376G>C	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537338	0.45176	.	.	ENSG00000204700	ENST00000377167	T	0.00995	5.46	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05914	0.0154	H	0.98426	4.23	0.46096	D	0.99886	D	0.89917	1.0	D	0.76071	0.987	T	0.02238	-1.1190	9	0.87932	D	0	.	11.4287	0.50027	0.0:0.0:1.0:0.0	.	126	O76002	OR2J2_HUMAN	P	126	ENSP00000366372:A126P	ENSP00000366372:A126P	A	+	1	0	OR2J2	29249767	1.000000	0.71417	0.986000	0.45419	0.294000	0.27393	5.274000	0.65569	1.265000	0.44215	0.205000	0.17691	GCT		0.453	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			66	271	0	0	0	0.00361	0	66	271				
MDC1	9656	broad.mit.edu	37	6	30673394	30673394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:30673394C>A	ENST00000376406.3	-	10	4213	c.3566G>T	c.(3565-3567)gGa>gTa	p.G1189V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G925V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1189	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTTTTTCTTCCCCTAGTAAC	0.572								Other conserved DNA damage response genes																															uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3565-3567)GGA>GTA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							152.0	166.0	161.0					6																	30673394		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673394C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3566G>T	6.37:g.30673394C>A	ENSP00000365588:p.Gly1189Val					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.G796V	p.G1189V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4006	-			1189	Missing (in Ref. 2; CAH18685).		Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3566G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585791	0.46110	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.11277	2.79;2.79	3.68	3.68	0.42216	.	.	.	.	.	T	0.08044	0.0201	N	0.14661	0.345	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.34279	-0.9835	9	0.34782	T	0.22	.	11.1341	0.48365	0.0:1.0:0.0:0.0	.	925;1189	Q14676-2;Q14676	.;MDC1_HUMAN	V	1189;925;796	ENSP00000365588:G1189V;ENSP00000365587:G925V	ENSP00000365587:G925V	G	-	2	0	MDC1	30781373	0.001000	0.12720	0.037000	0.18230	0.017000	0.09413	0.920000	0.28705	2.074000	0.62210	0.478000	0.44815	GGA		0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		25	303	1	0	5.35356e-11	0.00278	7.54501e-11	25	303				
MDC1	9656	broad.mit.edu	37	6	30679203	30679203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:30679203C>A	ENST00000376406.3	-	7	2854	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	MDC1_ENST00000376405.2_Missense_Mutation_p.S736I|MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	736				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTCTGGAAGCTGCAATGGGA	0.502								Other conserved DNA damage response genes																															uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(2206-2208)AGC>ATC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							141.0	115.0	124.0					6																	30679203		1511	2709	4220	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30679203C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2207G>T	6.37:g.30679203C>A	ENSP00000365588:p.Ser736Ile					MDC1_uc003nrf.3_Missense_Mutation_p.S390I|MDC1_uc011dmp.1_Missense_Mutation_p.S607I	p.S736I	NM_014641	NP_055456	Q14676	MDC1_HUMAN			7	2647	-			736	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.2207G>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.951640|2.951640	0.53186|0.53186	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000417033|ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	.|T;T	.|0.04706	.|3.57;3.82	4.89|4.89	3.07|3.07	0.35406|0.35406	.|.	.|0.307412	.|0.23824	.|N	.|0.044213	T|T	0.07234|0.07234	0.0183|0.0183	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.997	.|D;D;D	.|0.69142	.|0.962;0.916;0.931	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.87932	.|D	.|0	-0.1052|-0.1052	7.8071|7.8071	0.29209|0.29209	0.0:0.7945:0.0:0.2055|0.0:0.7945:0.0:0.2055	.|.	.|736;736;736	.|Q14676-2;Q14676;Q14676-4	.|.;MDC1_HUMAN;.	H|I	60|736;736;736;607	.|ENSP00000365588:S736I;ENSP00000365587:S736I	.|ENSP00000365587:S736I	Q|S	-|-	3|2	2|0	MDC1|MDC1	30787182|30787182	0.618000|0.618000	0.27051|0.27051	0.202000|0.202000	0.23494|0.23494	0.511000|0.511000	0.34104|0.34104	2.028000|2.028000	0.41088|0.41088	1.186000|1.186000	0.42985|0.42985	0.549000|0.549000	0.68633|0.68633	CAG|AGC		0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		11	38	1	0	0.000978159	0.000978	0.00105815	11	38				
TNXB	7148	broad.mit.edu	37	6	32020721	32020721	+	Silent	SNP	C	C	T	rs536634503		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32020721C>T	ENST00000375244.3	-	26	9042	c.8841G>A	c.(8839-8841)ccG>ccA	p.P2947P	TNXB_ENST00000375247.2_Silent_p.P2945P			P22105	TENX_HUMAN	tenascin XB	2992	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGGGGCTCCGGGGCCTCCG	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		14790	0.0		0.001	False		,,,				2504	0.0						uc003nzl.2		NA																	0					0						c.(8833-8835)CCG>CCA		tenascin XB isoform 1 precursor							39.0	46.0	44.0					6																	32020721		1152	2490	3642	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020721C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8841G>A	6.37:g.32020721C>T							p.P2945P	NM_019105	NP_061978	P22105	TENX_HUMAN			26	9037	-			2992					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8835G>A																																																																																					0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		16	61	0	0	0	0.00499	0	16	61				
TNXB	7148	broad.mit.edu	37	6	32025991	32025991	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32025991T>A	ENST00000375244.3	-	22	7870	c.7669A>T	c.(7669-7671)Aag>Tag	p.K2557*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.K2557*			P22105	TENX_HUMAN	tenascin XB	2617	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCTGTCCTTGTACTGCACG	0.652																																							uc003nzl.2		NA																	0					0						c.(7669-7671)AAG>TAG		tenascin XB isoform 1 precursor							59.0	67.0	64.0					6																	32025991		1282	2542	3824	SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32025991T>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7669A>T	6.37:g.32025991T>A	ENSP00000364393:p.Lys2557*						p.K2557*	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7871	-			2617			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000375244.3	37	c.7669A>T		.	.	.	.	.	.	.	.	.	.	T	50	16.380962	0.99862	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	4.22	3.06	0.35304	.	0.160312	0.28921	N	0.013711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3057	0.26447	0.0:0.1034:0.0:0.8966	.	.	.	.	X	2557	.	ENSP00000364393:K2557X	K	-	1	0	TNXB	32133969	0.990000	0.36364	1.000000	0.80357	0.810000	0.45777	2.074000	0.41529	0.679000	0.31345	0.529000	0.55759	AAG		0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		18	56	0	0	0	0.006122	0	18	56				
PPT2	9374	broad.mit.edu	37	6	32123712	32123712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32123712T>C	ENST00000324816.6	+	5	1066	c.498T>C	c.(496-498)taT>taC	p.Y166Y	PPT2_ENST00000437001.2_Silent_p.Y43Y|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Silent_p.Y172Y|PPT2_ENST00000395523.1_Silent_p.Y166Y|PPT2_ENST00000375137.2_Silent_p.Y166Y|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000422437.1_Silent_p.Y166Y|PPT2_ENST00000445576.2_Silent_p.Y166Y|PPT2_ENST00000375143.2_Silent_p.Y166Y|PPT2_ENST00000493548.1_3'UTR			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	166					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GGATCTGCTATAGCCCCTGGG	0.537																																							uc003nzx.2		NA																	0					0						c.(496-498)TAT>TAC		palmitoyl-protein thioesterase 2 isoform a							131.0	117.0	122.0					6																	32123712		1511	2709	4220	SO:0001819	synonymous_variant	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32123712T>C	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.498T>C	6.37:g.32123712T>C						PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Silent_p.Y172Y|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Silent_p.Y166Y|PPT2_uc003oaa.2_Silent_p.Y166Y|PPT2_uc010jtu.1_Silent_p.Y166Y	p.Y166Y	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN			5	1066	+			166					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	c.498T>C	CCDS4742.1																																																																																				0.537	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		10	99	0	0	0	0.000978	0	10	99				
NOTCH4	4855	broad.mit.edu	37	6	32169993	32169993	+	Silent	SNP	C	C	A	rs61729678		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32169993C>A	ENST00000375023.3	-	21	3753	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1205					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGACTCCCAGAGAGCAGT	0.652																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3613-3615)CTG>CTT		notch4 preproprotein							55.0	62.0	59.0					6																	32169993		1509	2709	4218	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169993C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3615G>T	6.37:g.32169993C>A						NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	p.L1205L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			21	3754	-			1205			LNR 1.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3615G>T	CCDS34420.1																																																																																				0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			18	71	1	0	3.32936e-07	0.006122	4.19088e-07	18	71				
NOTCH4	4855	broad.mit.edu	37	6	32188604	32188604	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32188604T>C	ENST00000375023.3	-	5	989	c.851A>G	c.(850-852)cAg>cGg	p.Q284R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	284	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		Q -> H (in dbSNP:rs520803).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATTCTGACACTGGTGGCTGAC	0.557																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(850-852)CAG>CGG		notch4 preproprotein							113.0	104.0	107.0					6																	32188604		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188604T>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.851A>G	6.37:g.32188604T>C	ENSP00000364163:p.Gln284Arg					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.Q284R	p.Q284R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			5	990	-			284			EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.851A>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	7.796	0.712688	0.15306	.	.	ENSG00000204301	ENST00000375023	D	0.85702	-2.02	4.74	-2.29	0.06805	EGF-like calcium-binding, conserved site (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.916773	0.08977	N	0.866390	T	0.39963	0.1098	N	0.02721	-0.515	0.09310	N	0.999997	B;B	0.09022	0.001;0.002	B;B	0.15484	0.013;0.002	T	0.33497	-0.9866	10	0.54805	T	0.06	.	1.3861	0.02240	0.139:0.2712:0.1424:0.4474	.	284;284	Q6P3V5;Q99466	.;NOTC4_HUMAN	R	284	ENSP00000364163:Q284R	ENSP00000364163:Q284R	Q	-	2	0	NOTCH4	32296582	0.043000	0.20138	0.039000	0.18376	0.872000	0.50106	0.289000	0.18957	-0.253000	0.09514	0.402000	0.26972	CAG		0.557	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			14	117	0	0	0	0.003163	0	14	117				
UHRF1BP1	54887	broad.mit.edu	37	6	34825135	34825135	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:34825135G>T	ENST00000192788.5	+	12	1632	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K487N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	487							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAAGTAAAAAGCCATCTACAC	0.433																																							uc003oju.3		NA																	0				ovary(3)	3						c.(1459-1461)AAG>AAT		ICBP90 binding protein 1							110.0	104.0	106.0					6																	34825135		1882	4118	6000	SO:0001583	missense	54887							g.chr6:34825135G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1461G>T	6.37:g.34825135G>T	ENSP00000192788:p.Lys487Asn					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	p.K487N	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			12	1695	+			487					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1461G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659777	0.47572	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08984	3.03;3.03	5.28	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.09335	0.0230	L	0.50333	1.59	0.52501	D	0.999953	D	0.76494	0.999	D	0.68765	0.96	T	0.13045	-1.0524	10	0.33141	T	0.24	-25.7369	6.0242	0.19646	0.183:0.1571:0.6599:0.0	.	487	Q6BDS2	URFB1_HUMAN	N	487	ENSP00000192788:K487N;ENSP00000400628:K487N	ENSP00000192788:K487N	K	+	3	2	UHRF1BP1	34933113	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.403000	0.34612	1.415000	0.47037	0.563000	0.77884	AAG		0.433	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		23	75	1	0	1.37657e-19	0.001882	2.22732e-19	23	75				
PNPLA1	285848	broad.mit.edu	37	6	36262158	36262158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:36262158G>T	ENST00000394571.2	+	4	696	c.696G>T	c.(694-696)ttG>ttT	p.L232F	PNPLA1_ENST00000312917.5_Missense_Mutation_p.L146F|PNPLA1_ENST00000388715.3_Missense_Mutation_p.L137F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	232					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACGCATTGTTCCCCCCGG	0.622																																							uc010jwf.2		NA																	0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(694-696)TTG>TTT		patatin-like phospholipase domain containing 1							64.0	57.0	60.0					6																	36262158		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36262158G>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.696G>T	6.37:g.36262158G>T	ENSP00000378072:p.Leu232Phe					PNPLA1_uc003olw.1_Missense_Mutation_p.L137F|PNPLA1_uc010jwe.1_Missense_Mutation_p.L146F	p.L232F	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			4	696	+			232					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.696G>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988328	0.35036	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.02	-3.56	0.04626	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.110839	0.34986	N	0.003530	T	0.60366	0.2263	L	0.56199	1.76	0.37879	D	0.930313	D;D	0.57899	0.968;0.981	P;P	0.59948	0.739;0.866	T	0.67715	-0.5599	10	0.87932	D	0	-17.4386	11.1808	0.48627	0.1504:0.5637:0.2859:0.0	.	232;146	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	F	137;146;233;232	ENSP00000373367:L137F;ENSP00000321116:L146F;ENSP00000391868:L233F;ENSP00000378072:L232F	ENSP00000321116:L146F	L	+	3	2	PNPLA1	36370136	0.005000	0.15991	0.181000	0.23098	0.253000	0.25986	-1.522000	0.02237	-0.524000	0.06400	-0.176000	0.13171	TTG		0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		24	57	1	0	5.45727e-16	0.008361	8.38041e-16	24	57				
STK38	11329	broad.mit.edu	37	6	36489584	36489584	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:36489584A>T	ENST00000229812.7	-	5	602	c.317T>A	c.(316-318)gTt>gAt	p.V106D	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTTCTGAACAAGCCGTAC	0.358																																					Colon(180;997 3561 16158)	Colon(180;997 3561 16158)	uc003omg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(316-318)GTT>GAT		serine/threonine kinase 38							92.0	99.0	97.0					6																	36489584		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36489584A>T		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.317T>A	6.37:g.36489584A>T	ENSP00000229812:p.Val106Asp					STK38_uc003omh.2_Missense_Mutation_p.V106D|STK38_uc003omi.2_Missense_Mutation_p.V106D	p.V106D	NM_007271	NP_009202	Q15208	STK38_HUMAN			4	905	-			106			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.317T>A	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849857	0.91277	.	.	ENSG00000112079	ENST00000229812	T	0.44482	0.92	5.49	5.49	0.81192	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	0.65207	0.2669	M	0.91717	3.235	0.80722	D	1	D	0.59767	0.986	D	0.66602	0.945	T	0.74702	-0.3576	10	0.87932	D	0	.	15.7623	0.78096	1.0:0.0:0.0:0.0	.	106	Q15208	STK38_HUMAN	D	106	ENSP00000229812:V106D	ENSP00000229812:V106D	V	-	2	0	STK38	36597562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.311000	0.77944	0.533000	0.62120	GTT		0.358	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		12	61	0	0	0	0.001368	0	12	61				
TFAP2D	83741	broad.mit.edu	37	6	50740545	50740545	+	Missense_Mutation	SNP	G	G	C	rs78823892	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:50740545G>C	ENST00000008391.3	+	8	1555	c.1327G>C	c.(1327-1329)Gtg>Ctg	p.V443L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAGGCTGCCGTGAAAGAGGG	0.453																																							uc003paf.2		NA																	0				ovary(6)|breast(1)	7						c.(1327-1329)GTG>CTG		transcription factor AP-2 beta-like 1							44.0	41.0	42.0					6																	50740545		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740545G>C	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1327G>C	6.37:g.50740545G>C	ENSP00000008391:p.Val443Leu					TFAP2D_uc011dwt.1_RNA	p.V443L	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1839	+	Lung NSC(77;0.0334)		443						Missense_Mutation	SNP	ENST00000008391.3	37	c.1327G>C	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149163	0.37923	.	.	ENSG00000008197	ENST00000008391	D	0.97256	-4.31	5.54	4.67	0.58626	.	0.188352	0.48286	D	0.000186	D	0.86306	0.5901	N	0.08118	0	0.40162	D	0.97707	B	0.06786	0.001	B	0.08055	0.003	T	0.81052	-0.1107	10	0.19590	T	0.45	-9.5679	14.2113	0.65767	0.0717:0.0:0.9283:0.0	.	443	Q7Z6R9	AP2D_HUMAN	L	443	ENSP00000008391:V443L	ENSP00000008391:V443L	V	+	1	0	TFAP2D	50848504	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.135000	0.71696	1.342000	0.45619	0.467000	0.42956	GTG		0.453	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		3	37	0	0	0	0.009096	0	3	37				
IL17A	3605	broad.mit.edu	37	6	52054021	52054022	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:52054021_52054022CC>AA	ENST00000340057.1	+	3	444_445	c.399_400CC>AA	c.(397-402)ttCCgg>ttAAgg	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGAA	0.599																																							uc003pak.1		NA																	0					0						c.(397-402)TTCCGG>TTAAGG		interleukin 17A precursor																																				SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52054021_52054022CC>AA	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	Exception_encountered	6.37:g.52054021_52054022delinsAA	ENSP00000344192:p.Phe133Leu						p.F133L	NM_002190	NP_002181	Q16552	IL17_HUMAN			3	444_445	+	Lung NSC(77;0.116)		133					Q5T2P0	Missense_Mutation	DNP	ENST00000340057.1	37	c.399_400CC>AA	CCDS4937.1																																																																																				0.599	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		12	66	0	0	0	0.004672	0	12	66				
EYS	346007	broad.mit.edu	37	6	66205196	66205196	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:66205196G>T	ENST00000370621.3	-	4	634	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EYS_ENST00000503581.1_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	36					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATATGATGAGGGTTGTGGAT	0.388																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(106-108)CCC>CCA		eyes shut homolog isoform 1							105.0	105.0	105.0					6																	66205196		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205196G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.108C>A	6.37:g.66205196G>T						EYS_uc003peq.2_Silent_p.P36P|EYS_uc003per.1_Silent_p.P36P|EYS_uc010kaj.1_RNA	p.P36P	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	646	-			36					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.108C>A																																																																																					0.388	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		31	131	1	0	4.02929e-09	0.002096	5.40584e-09	31	131				
COL19A1	1310	broad.mit.edu	37	6	70744142	70744142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:70744142G>T	ENST00000322773.4	+	13	1188	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	362	Collagen-like 2.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACAGGGTTTGAAAGGTGACT	0.378																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1084-1086)TTG>TTT		alpha 1 type XIX collagen precursor							126.0	127.0	127.0					6																	70744142		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70744142G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1086G>T	6.37:g.70744142G>T	ENSP00000316030:p.Leu362Phe					COL19A1_uc010kam.1_Missense_Mutation_p.L258F	p.L362F	NM_001858	NP_001849	Q14993	COJA1_HUMAN			13	1203	+			362					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1086G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023757	0.19433	.	.	ENSG00000082293	ENST00000322773	D	0.94330	-3.4	5.7	3.9	0.45041	.	0.198754	0.32901	N	0.005502	D	0.84424	0.5469	L	0.60012	1.86	0.80722	D	1	P	0.35363	0.497	B	0.39503	0.301	T	0.80317	-0.1433	10	0.09843	T	0.71	.	8.4311	0.32757	0.1488:0.1289:0.7223:0.0	.	362	Q14993	COJA1_HUMAN	F	362	ENSP00000316030:L362F	ENSP00000316030:L362F	L	+	3	2	COL19A1	70800863	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	1.912000	0.39946	0.740000	0.32651	-0.216000	0.12614	TTG		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			4	84	1	0	0.00909568	0.009096	0.00944648	4	84				
IMPG1	3617	broad.mit.edu	37	6	76657190	76657190	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:76657190T>C	ENST00000369950.3	-	14	2074	c.1885A>G	c.(1885-1887)Aga>Gga	p.R629G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTCCCGTTTCTGAAGTTAAGT	0.403																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(1885-1887)AGA>GGA		interphotoreceptor matrix proteoglycan 1							86.0	83.0	84.0					6																	76657190		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76657190T>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1885A>G	6.37:g.76657190T>C	ENSP00000358966:p.Arg629Gly						p.R629G	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			14	2015	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	629			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1885A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490133	0.64074	.	.	ENSG00000112706	ENST00000369950	T	0.47528	0.84	5.86	3.39	0.38822	SEA (2);	0.084489	0.51477	D	0.000098	T	0.57021	0.2025	M	0.77103	2.36	0.80722	D	1	D	0.60575	0.988	D	0.65573	0.936	T	0.64241	-0.6454	10	0.87932	D	0	.	13.1386	0.59423	0.0:0.0:0.3814:0.6186	.	629	Q17R60	IMPG1_HUMAN	G	629	ENSP00000358966:R629G	ENSP00000358966:R629G	R	-	1	2	IMPG1	76713910	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.211000	0.32382	0.437000	0.26423	-0.323000	0.08544	AGA		0.403	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		15	40	0	0	0	0.004007	0	15	40				
CNR1	1268	broad.mit.edu	37	6	88853926	88853926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:88853926C>A	ENST00000537554.1	-	2	4630	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	CNR1_ENST00000535130.1_Missense_Mutation_p.W356C|CNR1_ENST00000549716.1_Missense_Mutation_p.W295C|CNR1_ENST00000468898.1_Missense_Mutation_p.W323C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.W356C|CNR1_ENST00000369501.2_Missense_Mutation_p.W356C|CNR1_ENST00000549890.1_Missense_Mutation_p.W356C|CNR1_ENST00000369499.2_Missense_Mutation_p.W356C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	356					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGAGGGCCCCAGCAGATGA	0.522																																							uc011dzq.1		NA																	0				skin(2)	2						c.(1066-1068)TGG>TGT		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						135.0	143.0	140.0					6																	88853926		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853926C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1068G>T	6.37:g.88853926C>A	ENSP00000441046:p.Trp356Cys					CNR1_uc010kbz.2_Missense_Mutation_p.W356C|CNR1_uc011dzr.1_Missense_Mutation_p.W356C|CNR1_uc011dzs.1_Missense_Mutation_p.W356C|CNR1_uc003pmq.3_Missense_Mutation_p.W356C|CNR1_uc011dzt.1_Missense_Mutation_p.W356C|CNR1_uc010kca.2_Missense_Mutation_p.W323C	p.W356C	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4631	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	356			Helical; Name=6; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1068G>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552039	0.65311	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92741	0.6208	10	0.87932	D	0	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	323;356	P21554-3;P21554	.;CNR1_HUMAN	C	356;356;356;356;356;323;356;295	ENSP00000358513:W356C;ENSP00000442689:W356C;ENSP00000441046:W356C;ENSP00000358511:W356C;ENSP00000446819:W356C;ENSP00000420188:W323C;ENSP00000412192:W356C;ENSP00000449549:W295C	ENSP00000358511:W356C	W	-	3	0	CNR1	88910645	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.880000	0.98712	0.655000	0.94253	TGG		0.522	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			9	98	1	0	1.12685e-05	0.004482	1.33802e-05	9	98				
WASF1	8936	broad.mit.edu	37	6	110434599	110434599	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:110434599G>T	ENST00000392589.1	-	5	1034	c.198C>A	c.(196-198)gtC>gtA	p.V66V	WASF1_ENST00000392587.2_Silent_p.V66V|WASF1_ENST00000359451.2_Silent_p.V66V|WASF1_ENST00000392588.1_Silent_p.V66V|WASF1_ENST00000392586.1_Silent_p.V66V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	66					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCAATGAGTTGACTCTGAAGG	0.308																																							uc003ptv.1		NA																	0					0						c.(196-198)GTC>GTA		Wiskott-Aldrich syndrome protein family member							88.0	86.0	87.0					6																	110434599		2203	4300	6503	SO:0001819	synonymous_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110434599G>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.198C>A	6.37:g.110434599G>T						WASF1_uc003ptw.1_Silent_p.V66V|WASF1_uc003ptx.1_Silent_p.V66V|WASF1_uc003pty.1_Silent_p.V66V|WASF1_uc003ptz.1_Silent_p.V66V	p.V66V	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	5	1035	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	66					E1P5F2|Q5SZK7	Silent	SNP	ENST00000392589.1	37	c.198C>A	CCDS5080.1																																																																																				0.308	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		9	18	1	0	0.000274275	0.004482	0.000303231	9	18				
TAAR2	9287	broad.mit.edu	37	6	132938854	132938854	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:132938854A>T	ENST00000367931.1	-	2	490	c.491T>A	c.(490-492)cTa>cAa	p.L164Q	TAAR2_ENST00000537809.1_Missense_Mutation_p.L119Q|TAAR2_ENST00000275191.2_Missense_Mutation_p.L119Q			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	164					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ACATAGAAGTAGCAATCTTTT	0.408																																							uc003qdl.1		NA																	0				ovary(1)	1						c.(490-492)CTA>CAA		trace amine associated receptor 2 isoform 1							59.0	60.0	60.0					6																	132938854		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938854A>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.491T>A	6.37:g.132938854A>T	ENSP00000356908:p.Leu164Gln					TAAR2_uc010kfr.1_Missense_Mutation_p.L119Q	p.L164Q	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	491	-	Breast(56;0.135)		164			Helical; Name=4; (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.491T>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992071	0.35131	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.73469	-0.75;-0.75;-0.75	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.528659	0.17924	N	0.157382	D	0.86083	0.5848	M	0.93375	3.41	0.37480	D	0.915945	D	0.61080	0.989	D	0.64687	0.928	D	0.89700	0.3904	10	0.87932	D	0	-10.5708	11.5222	0.50558	0.9289:0.0:0.0711:0.0	.	164	Q9P1P5	TAAR2_HUMAN	Q	119;164;119	ENSP00000275191:L119Q;ENSP00000356908:L164Q;ENSP00000441263:L119Q	ENSP00000275191:L119Q	L	-	2	0	TAAR2	132980547	0.976000	0.34144	0.411000	0.26484	0.044000	0.14063	6.187000	0.72039	2.295000	0.77249	0.528000	0.53228	CTA		0.408	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		7	81	0	0	0	0.001984	0	7	81				
VNN2	8875	broad.mit.edu	37	6	133070955	133070955	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:133070955C>T	ENST00000326499.6	-	6	1374	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q	VNN2_ENST00000525270.1_Missense_Mutation_p.R364Q|VNN2_ENST00000525289.1_Missense_Mutation_p.R196Q|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	417					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCTACTGGCCGTCCACAAGT	0.408																																							uc003qdt.2		NA																	0					0						c.(1249-1251)CGG>CAG		vanin 2 isoform 1 precursor							106.0	94.0	98.0					6																	133070955		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133070955C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1250G>A	6.37:g.133070955C>T	ENSP00000322276:p.Arg417Gln					VNN2_uc003qds.2_Missense_Mutation_p.R126Q|VNN2_uc010kgb.2_Missense_Mutation_p.R196Q|VNN2_uc003qdv.2_Missense_Mutation_p.R364Q	p.R417Q	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1261	-			417					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1250G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065630	0.07273	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.87179	-2.22;-2.22;-2.22	5.29	-6.39	0.01951	.	1.360000	0.04995	N	0.467990	T	0.28101	0.0693	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41106	-0.9527	10	0.05721	T	0.95	0.8354	7.1419	0.25560	0.1018:0.337:0.0:0.5612	.	196;417	O95498-2;O95498	.;VNN2_HUMAN	Q	417;364;196	ENSP00000322276:R417Q;ENSP00000436822:R364Q;ENSP00000436935:R196Q	ENSP00000322276:R417Q	R	-	2	0	VNN2	133112648	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.122000	0.03267	-0.852000	0.04141	-0.122000	0.15005	CGG		0.408	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			6	66	0	0	0	0.001984	0	6	66				
BCLAF1	9774	broad.mit.edu	37	6	136589451	136589451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:136589451G>A	ENST00000531224.1	-	10	2498	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S747F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S749F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S747F|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S576F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S747F|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	749	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAGATCGAGAATGATCTTG	0.343																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2245-2247)TCT>TTT		BCL2-associated transcription factor 1 isoform							97.0	84.0	89.0					6																	136589451		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589451G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2246C>T	6.37:g.136589451G>A	ENSP00000435210:p.Ser749Phe					BCLAF1_uc011edb.1_Missense_Mutation_p.S77F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S576F|BCLAF1_uc003qgy.1_Missense_Mutation_p.S747F|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S747F	p.S749F	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2499	-	Colorectal(23;0.24)		749			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2246C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247871	0.39697	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	4.97	4.97	0.65823	.	0.106801	0.42172	D	0.000741	T	0.21307	0.0513	L	0.49778	1.585	0.80722	D	1	P;D;P;P;P	0.61697	0.514;0.99;0.514;0.514;0.514	B;P;B;B;B	0.61201	0.431;0.885;0.431;0.431;0.311	T	0.00660	-1.1622	10	0.87932	D	0	-6.387	16.7666	0.85525	0.0:0.0:1.0:0.0	.	747;77;747;749;576	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	F	749;747;749;576;747;747	ENSP00000435210:S749F;ENSP00000229446:S747F;ENSP00000435441:S749F;ENSP00000436501:S576F;ENSP00000434826:S747F;ENSP00000376159:S747F	ENSP00000229446:S747F	S	-	2	0	BCLAF1	136631144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.173000	0.71937	2.478000	0.83669	0.484000	0.47621	TCT		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		6	64	0	0	0	0.001168	0	6	64				
KIAA1244	57221	broad.mit.edu	37	6	138584589	138584589	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:138584589G>T	ENST00000251691.4	+	12	2135	c.1969G>T	c.(1969-1971)Gcc>Tcc	p.A657S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGAACTGCCGCCCTGTCTCT	0.607																																							uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(1969-1971)GCC>TCC		brefeldin A-inhibited guanine							54.0	61.0	59.0					6																	138584589		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584589G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1969G>T	6.37:g.138584589G>T	ENSP00000251691:p.Ala657Ser						p.A657S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1969	+	Breast(32;0.135)		657			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.1969G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376445	0.82682	.	.	ENSG00000112379	ENST00000251691	T	0.25085	1.82	5.47	5.47	0.80525	SEC7-like (1);	0.198327	0.31685	N	0.007224	T	0.13927	0.0337	L	0.57536	1.79	0.58432	D	0.999996	P	0.48230	0.907	B	0.39904	0.313	T	0.07673	-1.0760	10	0.07030	T	0.85	-28.0481	19.3197	0.94233	0.0:0.0:1.0:0.0	.	657	Q5TH69	BIG3_HUMAN	S	657	ENSP00000251691:A657S	ENSP00000251691:A657S	A	+	1	0	KIAA1244	138626282	1.000000	0.71417	0.710000	0.30468	0.828000	0.46876	9.496000	0.97967	2.569000	0.86673	0.655000	0.94253	GCC		0.607	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		10	77	1	0	1.76689e-08	0.006214	2.32097e-08	10	77				
SYNE1	23345	broad.mit.edu	37	6	152757200	152757200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:152757200C>A	ENST00000367255.5	-	33	4787	c.4186G>T	c.(4186-4188)Gct>Tct	p.A1396S	SYNE1_ENST00000448038.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1386S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1396S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1462S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1396					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTTCTCAGCCTGGACTGCA	0.388										HNSCC(10;0.0054)																													uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4186-4188)GCT>TCT		spectrin repeat containing, nuclear envelope 1							118.0	108.0	112.0					6																	152757200		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757200C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4186G>T	6.37:g.152757200C>A	ENSP00000356224:p.Ala1396Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A1403S|SYNE1_uc003qou.3_Missense_Mutation_p.A1396S|SYNE1_uc010kjb.1_Missense_Mutation_p.A1379S|SYNE1_uc003qow.2_Missense_Mutation_p.A691S|SYNE1_uc003qox.1_Missense_Mutation_p.A912S	p.A1396S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4788	-		Ovarian(120;0.0955)	1396			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4186G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441356	0.83993	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88741	0.53;0.53;0.44;0.56;0.66;-2.33;-2.42;-2.41	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000026	D	0.92159	0.7514	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.994;0.997;0.991;0.994;0.997	P;P;D;P;P;D	0.64042	0.889;0.744;0.921;0.848;0.744;0.921	D	0.88380	0.3001	10	0.21014	T	0.42	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	1379;1396;1386;1396;1396;1403	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	S	1396;1403;1396;1403;1462;1396;1386;1396	ENSP00000356224:A1396S;ENSP00000396024:A1403S;ENSP00000265368:A1396S;ENSP00000390975:A1403S;ENSP00000341887:A1462S;ENSP00000356222:A1396S;ENSP00000356217:A1386S;ENSP00000414510:A1396S	ENSP00000265368:A1396S	A	-	1	0	SYNE1	152798893	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.223000	0.72257	2.805000	0.96524	0.460000	0.39030	GCT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	67	1	0	0.00307968	0.00308	0.00327977	8	67				
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(484-486)GAG>AAG		caspase recruitment domain family, member 11							122.0	95.0	104.0					7																	2984046		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984046C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.484G>A	7.37:g.2984046C>T	ENSP00000380150:p.Glu162Lys						p.E162K	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	888	-		Ovarian(82;0.0115)	162			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.484G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	35	5.559387	0.96514	.	.	ENSG00000198286	ENST00000396946	T	0.35048	1.33	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.50333	1.59	0.80722	D	1	P	0.45283	0.855	P	0.51355	0.667	T	0.47182	-0.9137	10	0.49607	T	0.09	-23.3507	17.3242	0.87243	0.0:1.0:0.0:0.0	.	162	Q9BXL7	CAR11_HUMAN	K	162	ENSP00000380150:E162K	ENSP00000380150:E162K	E	-	1	0	CARD11	2950572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.279000	0.78599	2.153000	0.67306	0.655000	0.94253	GAG		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		34	78	0	0	0	0.004878	0	34	78				
SDK1	221935	broad.mit.edu	37	7	4153881	4153881	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:4153881G>T	ENST00000404826.2	+	25	3937	c.3798G>T	c.(3796-3798)gtG>gtT	p.V1266V	SDK1_ENST00000389531.3_Silent_p.V1266V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1266	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGCGAGGTGGTGCGGGGCC	0.637																																							uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(3796-3798)GTG>GTT		sidekick 1 precursor							24.0	23.0	23.0					7																	4153881		2201	4298	6499	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4153881G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3798G>T	7.37:g.4153881G>T						SDK1_uc010kso.2_Silent_p.V542V	p.V1266V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3937	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1266			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3798G>T	CCDS34590.1																																																																																				0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		5	23	1	0	0.000602214	0.000602	0.000659027	5	23				
DGKB	1607	broad.mit.edu	37	7	14613946	14613946	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:14613946G>T	ENST00000403951.2	-	20	2083	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	DGKB_ENST00000406247.3_Missense_Mutation_p.T555K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T554K|DGKB_ENST00000258767.5_Missense_Mutation_p.T555K|DGKB_ENST00000399322.3_Missense_Mutation_p.T555K|DGKB_ENST00000407950.1_Missense_Mutation_p.T547K|DGKB_ENST00000444700.2_Missense_Mutation_p.T536K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	555	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CATGATTTCTGTGCTGTTTTC	0.348																																							uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1663-1665)ACA>AAA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						204.0	184.0	190.0					7																	14613946		1858	4109	5967	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14613946G>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1664C>A	7.37:g.14613946G>T	ENSP00000385780:p.Thr555Lys					DGKB_uc011jxt.1_Missense_Mutation_p.T536K|DGKB_uc003sta.2_Missense_Mutation_p.T555K|DGKB_uc011jxu.1_Missense_Mutation_p.T554K	p.T555K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			19	1851	-			555			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1664C>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483050	0.26598	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.29	5.29	0.74685	Diacylglycerol kinase, catalytic domain (3);	0.229985	0.36778	N	0.002408	T	0.10121	0.0248	N	0.02391	-0.57	0.46849	D	0.999223	B;B;B;B	0.29136	0.146;0.001;0.001;0.234	B;B;B;B	0.32928	0.155;0.005;0.005;0.13	T	0.15521	-1.0434	10	0.06365	T	0.9	.	18.9457	0.92621	0.0:0.0:1.0:0.0	.	554;536;555;555	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	K	555;555;555;554;547;536;555	ENSP00000385780:T555K;ENSP00000382260:T555K;ENSP00000258767:T555K;ENSP00000384909:T554K;ENSP00000385031:T547K;ENSP00000388451:T536K;ENSP00000386066:T555K	ENSP00000258767:T555K	T	-	2	0	DGKB	14580471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.481000	0.83766	0.561000	0.74099	ACA		0.348	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		46	117	1	0	1.5731e-28	0.002852	2.69572e-28	46	117				
MEOX2	4223	broad.mit.edu	37	7	15652023	15652023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:15652023C>A	ENST00000262041.5	-	3	1313	c.904G>T	c.(904-906)Gcg>Tcg	p.A302S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CATAAGTGCGCATGCTCTGAG	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(904-906)GCG>TCG		mesenchyme homeobox 2							128.0	110.0	116.0					7																	15652023		2203	4300	6503	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652023C>A		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.904G>T	7.37:g.15652023C>A	ENSP00000262041:p.Ala302Ser					MEOX2_uc011jxw.1_Missense_Mutation_p.A302S	p.A302S	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1185	-			302					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.904G>T	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407522	0.62399	.	.	ENSG00000106511	ENST00000262041	D	0.91180	-2.8	5.51	5.51	0.81932	.	0.053397	0.64402	D	0.000001	D	0.87257	0.6132	N	0.24115	0.695	0.58432	D	0.999995	P	0.51791	0.948	P	0.45610	0.487	D	0.87042	0.2141	10	0.37606	T	0.19	-10.7356	19.4309	0.94765	0.0:1.0:0.0:0.0	.	302	P50222	MEOX2_HUMAN	S	302	ENSP00000262041:A302S	ENSP00000262041:A302S	A	-	1	0	MEOX2	15618548	1.000000	0.71417	0.928000	0.36995	0.991000	0.79684	7.372000	0.79612	2.595000	0.87683	0.563000	0.77884	GCG		0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		11	76	1	0	0.000978159	0.000978	0.00105815	11	76				
HDAC9	9734	broad.mit.edu	37	7	18868817	18868817	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:18868817C>T	ENST00000432645.2	+	17	2347	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	HDAC9_ENST00000401921.1_Missense_Mutation_p.H742Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H786Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.H783Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	783	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGGCCATCACGCTGAAGA	0.527																																							uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2347-2349)CAC>TAC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						140.0	133.0	135.0					7																	18868817		1987	4156	6143	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18868817C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2347C>T	7.37:g.18868817C>T	ENSP00000410337:p.His783Tyr					HDAC9_uc003sue.2_Missense_Mutation_p.H783Y|HDAC9_uc011jyd.1_Missense_Mutation_p.H783Y|HDAC9_uc003sui.2_Missense_Mutation_p.H786Y|HDAC9_uc003suj.2_Missense_Mutation_p.H742Y|HDAC9_uc003suk.2_Missense_Mutation_p.H31Y|HDAC9_uc003sua.1_Missense_Mutation_p.H761Y	p.H783Y	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			17	2388	+	all_lung(11;0.187)		783			Histone deacetylase.	By similarity.	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2347C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700413	0.68501	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.6	5.6	0.85130	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000002	D	0.99118	0.9696	H	0.99887	4.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.997;0.998;0.997;0.998	D	0.98548	1.0635	10	0.87932	D	0	-54.5738	19.9819	0.97329	0.0:1.0:0.0:0.0	.	783;31;742;786;783;783;761	Q9UKV0-4;Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	Y	783;742;783;786;695	ENSP00000384657:H783Y;ENSP00000383912:H742Y;ENSP00000410337:H783Y;ENSP00000408617:H786Y	ENSP00000339165:H695Y	H	+	1	0	HDAC9	18835342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.799000	0.96334	0.650000	0.86243	CAC		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			15	104	0	0	0	0.00499	0	15	104				
DNAH11	8701	broad.mit.edu	37	7	21856246	21856246	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:21856246C>A	ENST00000409508.3	+	64	10525	c.10494C>A	c.(10492-10494)ccC>ccA	p.P3498P	DNAH11_ENST00000328843.6_Silent_p.P3505P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3505	AAA 5. {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.P3505P(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						TGATAGATCCCCAGCAACAGG	0.488									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10513-10515)CCC>CCA		dynein, axonemal, heavy chain 11							96.0	91.0	92.0					7																	21856246		1930	4140	6070	SO:0001819	synonymous_variant	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.chr7:21856246C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10494C>A	7.37:g.21856246C>A							p.P3505P	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			65	10546	+			3505			AAA 5 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.10515C>A																																																																																					0.488	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	28	1	0	4.14922e-12	0.004007	5.95907e-12	14	28				
CLK2P1	1197	broad.mit.edu	37	7	23624887	23624887	+	IGR	SNP	G	G	T	rs73077128	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:23624887G>T								TRA2A (53227 upstream) : CCDC126 (12110 downstream)																							CAGTTCTCACGAACATAGCGT	0.498																																							uc003swk.2		NA																	0					0						c.(610-612)CGT>AGT		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23624887G>T																													7.37:g.23624887G>T							p.R204S	NR_002711						1	1260	-									Missense_Mutation	SNP		37	c.610C>A																																																																																				0	0.498									17	110	1	0	2.23348e-06	0.004007	2.69879e-06	17	110				
FAM221A	340277	broad.mit.edu	37	7	23728907	23728907	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:23728907G>T	ENST00000344962.4	+	3	348	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	FAM221A_ENST00000409653.1_Missense_Mutation_p.D29Y|FAM221A_ENST00000409192.3_Missense_Mutation_p.D87Y|FAM221A_ENST00000409994.3_Missense_Mutation_p.D29Y	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	87																	ACATAAAACTGACTTGGAAGC	0.398																																							uc003swo.3		NA																	0					0						c.(259-261)GAC>TAC		hypothetical protein LOC340277 isoform 1							70.0	71.0	71.0					7																	23728907		2203	4300	6503	SO:0001583	missense	340277							g.chr7:23728907G>T		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.259G>T	7.37:g.23728907G>T	ENSP00000342576:p.Asp87Tyr					C7orf46_uc003swq.3_Missense_Mutation_p.D87Y|C7orf46_uc003swr.3_Missense_Mutation_p.D29Y|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	p.D87Y	NM_199136	NP_954587	A4D161	CG046_HUMAN			3	348	+			87					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.259G>T	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736694	0.69304	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.71	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.77103	2.36	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	T	0.41520	-0.9504	10	0.29301	T	0.29	-17.5928	15.0979	0.72250	0.0693:0.0:0.9307:0.0	.	29;87;87	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	Y	87;87;29;29	ENSP00000386927:D87Y;ENSP00000342576:D87Y;ENSP00000386900:D29Y;ENSP00000386631:D29Y	ENSP00000342576:D87Y	D	+	1	0	C7orf46	23695432	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.192000	0.94947	2.694000	0.91930	0.591000	0.81541	GAC		0.398	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		24	71	1	0	8.24728e-16	0.004656	1.26391e-15	24	71				
NEUROD6	63974	broad.mit.edu	37	7	31378610	31378610	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:31378610C>T	ENST00000297142.3	-	2	595	c.273G>A	c.(271-273)agG>agA	p.R91R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	91					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAACTTGACCCTTTCCAATC	0.493																																							uc003tch.2		NA																	0				ovary(2)	2						c.(271-273)AGG>AGA		neurogenic differentiation 6							272.0	265.0	267.0					7																	31378610		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378610C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.273G>A	7.37:g.31378610C>T							p.R91R	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	626	-			91					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.273G>A	CCDS5434.1																																																																																				0.493	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		30	264	0	0	0	0.002836	0	30	264				
CCDC129	223075	broad.mit.edu	37	7	31614183	31614183	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:31614183T>A	ENST00000407970.3	+	7	463	c.425T>A	c.(424-426)aTa>aAa	p.I142K	CCDC129_ENST00000409210.1_Missense_Mutation_p.I50K|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Missense_Mutation_p.I142K|CCDC129_ENST00000451887.2_Missense_Mutation_p.I168K	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	142										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGGGAGATAGATCCAGTG	0.448																																							uc003tcj.1		NA																	0					0						c.(424-426)ATA>AAA		coiled-coil domain containing 129							148.0	160.0	156.0					7																	31614183		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31614183T>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.425T>A	7.37:g.31614183T>A	ENSP00000384416:p.Ile142Lys					CCDC129_uc011kad.1_Missense_Mutation_p.I152K|CCDC129_uc003tci.1_Missense_Mutation_p.I141K|CCDC129_uc011kae.1_Missense_Mutation_p.I168K|CCDC129_uc003tck.1_Missense_Mutation_p.I50K	p.I142K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			7	1418	+			142					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.425T>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	0.445	-0.896721	0.02472	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T;T;T	0.50277	0.75;1.2;2.52;2.82;1.3;2.81;2.55	5.66	1.92	0.25849	.	0.410465	0.23454	N	0.048019	T	0.10121	0.0248	N	0.00104	-2.125	0.33829	D	0.630032	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.07385	-1.0775	10	0.23891	T	0.37	-5.5709	4.5193	0.11952	0.6235:0.0:0.1327:0.2438	.	168;152;142;142	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	K	142;142;142;142;142;168;152;50	ENSP00000387220:I142K;ENSP00000390544:I142K;ENSP00000313062:I142K;ENSP00000384416:I142K;ENSP00000413233:I142K;ENSP00000395835:I168K;ENSP00000387214:I50K	ENSP00000313062:I142K	I	+	2	0	CCDC129	31580708	1.000000	0.71417	0.960000	0.40013	0.459000	0.32528	2.548000	0.45794	0.086000	0.17137	-0.383000	0.06682	ATA		0.448	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		27	182	0	0	0	0.008361	0	27	182				
BMPER	168667	broad.mit.edu	37	7	34125418	34125418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:34125418C>A	ENST00000297161.2	+	14	1833	c.1459C>A	c.(1459-1461)Ccg>Acg	p.P487T	BMPER_ENST00000426693.1_Missense_Mutation_p.P487T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	487	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATGGCTGCGCCGCATCTCAA	0.438																																							uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1459-1461)CCG>ACG		BMP-binding endothelial regulator precursor							110.0	97.0	102.0					7																	34125418		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125418C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1459C>A	7.37:g.34125418C>A	ENSP00000297161:p.Pro487Thr						p.P487T	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1573	+			487			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1459C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365711	0.82463	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59502	0.26;0.26	6.08	6.08	0.98989	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.58510	1.815	0.80722	D	1	P	0.47302	0.893	P	0.48770	0.589	T	0.63431	-0.6639	10	0.45353	T	0.12	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	487	Q8N8U9	BMPER_HUMAN	T	487	ENSP00000297161:P487T;ENSP00000393950:P487T	ENSP00000297161:P487T	P	+	1	0	BMPER	34091943	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	7.280000	0.78610	2.894000	0.99253	0.655000	0.94253	CCG		0.438	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		17	62	1	0	5.3912e-06	0.006122	6.45233e-06	17	62				
GPR141	353345	broad.mit.edu	37	7	37780254	37780254	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:37780254T>C	ENST00000447769.1	+	4	548	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F87L|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGCTGCCCTTCTGCAAATT	0.488																																							uc003tfm.1		NA																	0				ovary(3)	3						c.(259-261)TTC>CTC		G protein-coupled receptor 141							102.0	86.0	91.0					7																	37780254		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780254T>C	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.259T>C	7.37:g.37780254T>C	ENSP00000390410:p.Phe87Leu					uc003tfl.2_Intron	p.F87L	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	259	+			87			Extracellular (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.259T>C	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	T	8.987	0.976745	0.18812	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.33865	1.39;1.39;1.39	5.27	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.196541	0.45867	D	0.000328	T	0.24661	0.0598	L	0.39633	1.23	0.80722	D	1	P	0.34724	0.465	B	0.38225	0.268	T	0.10132	-1.0643	10	0.02654	T	1	-11.2305	8.0711	0.30689	0.1339:0.0:0.1401:0.7259	.	87	Q7Z602	GP141_HUMAN	L	87	ENSP00000396300:F87L;ENSP00000390410:F87L;ENSP00000334540:F87L	ENSP00000334540:F87L	F	+	1	0	GPR141	37746779	0.997000	0.39634	0.535000	0.28026	0.902000	0.53008	2.601000	0.46249	0.350000	0.24002	0.528000	0.53228	TTC		0.488	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		10	91	0	0	0	0.008291	0	10	91				
NPC1L1	29881	broad.mit.edu	37	7	44576029	44576029	+	Splice_Site	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:44576029T>C	ENST00000289547.4	-	4	1737		c.e4-2		NPC1L1_ENST00000546276.1_Splice_Site|NPC1L1_ENST00000423141.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1						cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGTCCTTTCCTGGGATAAGAA	0.607																																							uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.e4-1		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						66.0	70.0	68.0					7																	44576029		2203	4300	6503	SO:0001630	splice_region_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44576029T>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1682-2A>G	7.37:g.44576029T>C						NPC1L1_uc003tlc.2_Splice_Site_p.G561_splice|NPC1L1_uc011kbw.1_Splice_Site_p.G561_splice|NPC1L1_uc003tld.2_Splice_Site_p.G561_splice	p.G561_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			4	1738	-								A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Splice_Site	SNP	ENST00000289547.4	37	c.1682_splice	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	t	13.90	2.374600	0.42105	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.579	0.50881	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPC1L1	44542554	1.000000	0.71417	0.984000	0.44739	0.427000	0.31564	4.879000	0.63100	1.606000	0.50161	0.235000	0.17854	.		0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	Intron	25	58	0	0	0	0.00632	0	25	58				
PKD1L1	168507	broad.mit.edu	37	7	47944779	47944779	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:47944779T>A	ENST00000289672.2	-	11	1716	c.1666A>T	c.(1666-1668)Aaa>Taa	p.K556*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	556	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCTTTTTTTAATGCTTCTT	0.433																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(1666-1668)AAA>TAA		polycystin-1L1							127.0	119.0	122.0					7																	47944779		2203	4300	6503	SO:0001587	stop_gained	168507				cell-cell adhesion	integral to membrane		g.chr7:47944779T>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1666A>T	7.37:g.47944779T>A	ENSP00000289672:p.Lys556*						p.K556*	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			11	1666	-			556			Extracellular (Potential).|PKD 1.		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	c.1666A>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	40	8.147924	0.98678	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.07	-0.297	0.12820	.	1.359350	0.05061	N	0.479917	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2351	5.6729	0.17733	0.0:0.1396:0.3055:0.5549	.	.	.	.	X	556	.	ENSP00000289672:K556X	K	-	1	0	PKD1L1	47911304	0.001000	0.12720	0.018000	0.16275	0.968000	0.65278	0.135000	0.15952	-0.198000	0.10333	0.529000	0.55759	AAA		0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		57	71	0	0	0	0.00361	0	57	71				
IKZF1	10320	broad.mit.edu	37	7	50468265	50468266	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:50468265_50468266GG>TT	ENST00000331340.3	+	8	1655_1656	c.1500_1501GG>TT	c.(1498-1503)caGGac>caTTac	p.500_501QD>HY	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.458_459QD>HY|IKZF1_ENST00000349824.4_Missense_Mutation_p.357_358QD>HY|IKZF1_ENST00000439701.1_Missense_Mutation_p.458_459QD>HY|IKZF1_ENST00000357364.4_Missense_Mutation_p.413_414QD>HY|IKZF1_ENST00000346667.4_Missense_Mutation_p.270_271QD>HY|IKZF1_ENST00000438033.1_Missense_Mutation_p.413_414QD>HY|IKZF1_ENST00000343574.5_Missense_Mutation_p.413_414QD>HY	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	500					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCACAGCCAGGACCGGTACGA	0.629			"""D,T"""	BCL6	"""ALL, DLBCL"""																																		uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1498-1503)CAGGAC>CATTAC		zinc finger protein, subfamily 1A, 1 (Ikaros)																																				SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468265_50468266GG>TT	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	Exception_encountered	7.37:g.50468265_50468266delinsTT	ENSP00000331614:p.Q500_D501delinsHY					IKZF1_uc003tox.3_Missense_Mutation_p.458_459QD>HY|IKZF1_uc003toy.3_Missense_Mutation_p.458_459QD>HY|IKZF1_uc011kck.1_Missense_Mutation_p.413_414QD>HY|IKZF1_uc003toz.3_Missense_Mutation_p.470_471QD>HY|IKZF1_uc010kyx.2_Missense_Mutation_p.240_241QD>HY|IKZF1_uc003tpa.3_Missense_Mutation_p.242_243QD>HY	p.500_501QD>HY	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1668_1669	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	500_501			C2H2-type 6.		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	DNP	ENST00000331340.3	37	c.1500_1501GG>TT																																																																																					0.629	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		6	37	0	0	0	0.004672	0	6	37				
COBL	23242	broad.mit.edu	37	7	51096328	51096328	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:51096328T>A	ENST00000265136.7	-	10	2630	c.2465A>T	c.(2464-2466)cAc>cTc	p.H822L	COBL_ENST00000395542.2_Missense_Mutation_p.H904L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	822					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCTCATGGTGGGCAGACTT	0.642																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(2464-2466)CAC>CTC		cordon-bleu homolog							55.0	57.0	56.0					7																	51096328		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096328T>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2465A>T	7.37:g.51096328T>A	ENSP00000265136:p.His822Leu					COBL_uc003tps.2_Missense_Mutation_p.H879L|COBL_uc011kcl.1_Missense_Mutation_p.H822L|COBL_uc003tpp.3_Missense_Mutation_p.H608L|COBL_uc003tpq.3_Missense_Mutation_p.H763L|COBL_uc003tpo.3_Missense_Mutation_p.H364L	p.H822L	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2650	-	Glioma(55;0.08)		822					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2465A>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.027|6.027	0.373315|0.373315	0.11409|0.11409	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000457306	T;T;T;T|.	0.11277|.	2.8;2.79;2.8;2.79|.	5.5|5.5	-5.49|-5.49	0.02584|0.02584	.|.	2.197240|.	0.02179|.	N|.	0.060341|.	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.0;0.001|.	T|T	0.30090|0.30090	-0.9990|-0.9990	10|6	0.27785|0.87932	T|D	0.31|0	.|.	4.0026|4.0026	0.09587|0.09587	0.3133:0.0674:0.4655:0.1538|0.3133:0.0674:0.4655:0.1538	.|.	822;879;822;904;364|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	L|S	822;714;707;904|268	ENSP00000265136:H822L;ENSP00000401204:H714L;ENSP00000413498:H707L;ENSP00000378912:H904L|.	ENSP00000265136:H822L|ENSP00000397300:T268S	H|T	-|-	2|1	0|0	COBL|COBL	51063822|51063822	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.269000|-0.269000	0.08596|0.08596	-0.759000|-0.759000	0.04684|0.04684	-0.433000|-0.433000	0.05886|0.05886	CAC|ACC		0.642	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		17	42	0	0	0	0.008871	0	17	42				
CALN1	83698	broad.mit.edu	37	7	71252771	71252771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:71252771C>T	ENST00000329008.5	-	6	947	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CALN1_ENST00000412588.1_Missense_Mutation_p.G259S|CALN1_ENST00000431984.1_Missense_Mutation_p.G217S|CALN1_ENST00000395275.2_Missense_Mutation_p.G259S|CALN1_ENST00000405452.2_Missense_Mutation_p.G217S|CALN1_ENST00000395276.2_Missense_Mutation_p.G217S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TACTCCATGCCGCTCCGGAGT	0.592																																							uc003twa.3		NA																	0				skin(1)	1						c.(649-651)GGC>AGC		calneuron 1 isoform 2							75.0	60.0	65.0					7																	71252771		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252771C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.649G>A	7.37:g.71252771C>T	ENSP00000332498:p.Gly217Ser					CALN1_uc003twb.3_Missense_Mutation_p.G259S|CALN1_uc003twc.3_Missense_Mutation_p.G217S	p.G217S	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1176	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	217			Extracellular (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.649G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155986	0.78114	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	D;D;D;D;D;D	0.85171	-1.6;-1.95;-1.6;-1.6;-1.95;-1.6	4.99	4.99	0.66335	.	0.056780	0.64402	D	0.000001	D	0.88187	0.6369	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.89975	0.4096	10	0.87932	D	0	-37.7281	17.2647	0.87083	0.0:1.0:0.0:0.0	.	217;217	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	217;259;217;217;259;217	ENSP00000332498:G217S;ENSP00000378690:G259S;ENSP00000378691:G217S;ENSP00000410704:G217S;ENSP00000391882:G259S;ENSP00000384354:G217S	ENSP00000332498:G217S	G	-	1	0	CALN1	70890707	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.724000	0.84798	2.303000	0.77524	0.462000	0.41574	GGC		0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		11	31	0	0	0	0.000978	0	11	31				
GTF2I	2969	broad.mit.edu	37	7	74133245	74133245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:74133245G>A	ENST00000324896.4	+	12	1317	c.928G>A	c.(928-930)Gag>Aag	p.E310K	AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Intron|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000353920.4_Missense_Mutation_p.E290K	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	310					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CCCTGAAGTTGAGGTGACTAT	0.318																																							uc003uau.2		NA																	0					0						c.(928-930)GAG>AAG		general transcription factor IIi isoform 1							95.0	93.0	94.0					7																	74133245		2203	4299	6502	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74133245G>A	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.928G>A	7.37:g.74133245G>A	ENSP00000322542:p.Glu310Lys					GTF2I_uc003uav.2_Intron|GTF2I_uc003uaw.2_Missense_Mutation_p.E290K|GTF2I_uc003uay.2_Intron|GTF2I_uc003uax.2_Intron|uc003uaz.2_Intron	p.E310K	NM_032999	NP_127492	P78347	GTF2I_HUMAN			12	1298	+			310					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.928G>A	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775189	0.90108	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920	T;T	0.38077	1.16;1.18	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000006	T	0.53029	0.1771	L	0.55990	1.75	0.80722	D	1	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.28586	-1.0039	10	0.16420	T	0.52	-21.9145	17.1626	0.86807	0.0:0.0:1.0:0.0	.	290;310	P78347-3;P78347	.;GTF2I_HUMAN	K	310;305;290	ENSP00000322542:E310K;ENSP00000322671:E290K	ENSP00000322542:E310K	E	+	1	0	GTF2I	73771181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.620000	0.67736	2.838000	0.97847	0.655000	0.94253	GAG		0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		4	26	0	0	0	0.009096	0	4	26				
SRRM3	222183	broad.mit.edu	37	7	75894095	75894095	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:75894095C>T	ENST00000326382.8	+	9	894	c.687C>T	c.(685-687)tcC>tcT	p.S229S	SRRM3_ENST00000388802.4_Silent_p.S229S	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	229	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTCGAAGCTCCAAGTGCAAAA	0.572																																							uc010ldi.2		NA																	0					0						c.(685-687)TCC>TCT		serine/arginine repetitive matrix 3							104.0	104.0	104.0					7																	75894095		1568	3582	5150	SO:0001819	synonymous_variant	222183							g.chr7:75894095C>T	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.687C>T	7.37:g.75894095C>T						SRRM3_uc011kgi.1_5'Flank	p.S229S	NM_001110199	NP_001103669					9	896	+								A6ND75	Silent	SNP	ENST00000326382.8	37	c.687C>T																																																																																					0.572	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		12	37	0	0	0	0.001368	0	12	37				
CACNA2D1	781	broad.mit.edu	37	7	81635091	81635091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:81635091G>T	ENST00000356253.5	-	17	1760	c.1505C>A	c.(1504-1506)cCa>cAa	p.P502Q	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.P502Q			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	502	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTAAAACGTGGTGTCAGTCT	0.348																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1504-1506)CCA>CAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						131.0	123.0	126.0					7																	81635091		2203	4298	6501	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81635091G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1505C>A	7.37:g.81635091G>T	ENSP00000348589:p.Pro502Gln						p.P502Q	NM_000722	NP_000713	P54289	CA2D1_HUMAN			17	1761	-			502			Extracellular (Potential).|Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1505C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.693502|4.693502	0.88735|0.88735	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.08984	.|3.06;3.03	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30479|0.30479	0.0766|0.0766	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.01428|0.01428	-1.1357|-1.1357	5|10	.|0.87932	.|D	.|0	-12.3998|-12.3998	18.7374|18.7374	0.91761|0.91761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|502	.|P54289-2	.|.	N|Q	6|502	.|ENSP00000349320:P502Q;ENSP00000348589:P502Q	.|ENSP00000284088:P502Q	H|P	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81473027|81473027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.408000|9.408000	0.97327|0.97327	2.523000|2.523000	0.85059|0.85059	0.591000|0.591000	0.81541|0.81541	CAC|CCA		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				11	51	1	0	4.68919e-08	0.008291	6.11704e-08	11	51				
PCLO	27445	broad.mit.edu	37	7	82544203	82544203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:82544203C>A	ENST00000333891.9	-	7	13436	c.13099G>T	c.(13099-13101)Gtt>Ttt	p.V4367F	PCLO_ENST00000423517.2_Missense_Mutation_p.V4367F|PCLO_ENST00000437081.1_Missense_Mutation_p.V1087F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTGGCCAACAGGACTGAGT	0.517																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(13099-13101)GTT>TTT		piccolo isoform 1							79.0	82.0	81.0					7																	82544203		1912	4139	6051	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544203C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13099G>T	7.37:g.82544203C>A	ENSP00000334319:p.Val4367Phe					PCLO_uc003uhv.2_Missense_Mutation_p.V4367F|PCLO_uc010lec.2_Missense_Mutation_p.V1332F	p.V4367F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13388	-			4298						Missense_Mutation	SNP	ENST00000333891.9	37	c.13099G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671863	0.67928	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.22945	1.93;1.93	5.75	5.75	0.90469	.	.	.	.	.	T	0.52996	0.1769	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.52117	-0.8618	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4298;4367;4367	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	4367;4367;1087	ENSP00000334319:V4367F;ENSP00000388393:V4367F	ENSP00000334319:V4367F	V	-	1	0	PCLO	82382139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GTT		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	48	1	0	3.09899e-07	0.004482	3.91396e-07	9	48				
KIAA1324L	222223	broad.mit.edu	37	7	86521071	86521071	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:86521071A>T	ENST00000450689.2	-	21	3184	c.2999T>A	c.(2998-3000)cTa>cAa	p.L1000Q	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L833Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L929Q|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L760Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1000						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTTTCCTAGTAGTGACTGTTT	0.378																																							uc011kha.1		NA																	0				ovary(6)|skin(1)	7						c.(2998-3000)CTA>CAA		hypothetical protein LOC222223 isoform 1							149.0	142.0	144.0					7																	86521071		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86521071A>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2999T>A	7.37:g.86521071A>T	ENSP00000413445:p.Leu1000Gln					KIAA1324L_uc003uif.1_Missense_Mutation_p.L760Q|KIAA1324L_uc011kgz.1_Missense_Mutation_p.L886Q|KIAA1324L_uc003uie.2_Missense_Mutation_p.L833Q	p.L1000Q	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			21	3184	-	Esophageal squamous(14;0.0058)		1000			Cytoplasmic (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2999T>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645760	0.87958	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.27890	1.96;1.73;1.64;1.73	5.77	5.77	0.91146	.	0.072432	0.56097	D	0.000023	T	0.56978	0.2022	M	0.75264	2.295	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.60885	-0.7174	10	0.87932	D	0	.	15.5753	0.76373	1.0:0.0:0.0:0.0	.	1000;760;833	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	Q	1000;760;929;833	ENSP00000413445:L1000Q;ENSP00000297222:L760Q;ENSP00000397377:L929Q;ENSP00000402390:L833Q	ENSP00000297222:L760Q	L	-	2	0	KIAA1324L	86359007	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.896000	0.92521	2.326000	0.78906	0.533000	0.62120	CTA		0.378	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		10	104	0	0	0	0.000978	0	10	104				
RUNDC3B	154661	broad.mit.edu	37	7	87407258	87407258	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:87407258C>T	ENST00000338056.3	+	9	1405	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L315F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L315F	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	332										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AATTGTGGAGCTTCAAGATCA	0.353																																							uc003ujb.2		NA																	0				skin(1)	1						c.(994-996)CTT>TTT		RUN domain containing 3B isoform a							52.0	54.0	53.0					7																	87407258		2203	4299	6502	SO:0001583	missense	154661							g.chr7:87407258C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.994C>T	7.37:g.87407258C>T	ENSP00000337732:p.Leu332Phe					RUNDC3B_uc011khd.1_Missense_Mutation_p.L315F|RUNDC3B_uc011khe.1_Missense_Mutation_p.L315F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L315F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L237F	p.L332F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			9	1405	+	Esophageal squamous(14;0.00164)		332			Potential.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.994C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214376	0.79352	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.54675	0.56;0.56;0.56	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.997;0.999	D;D;D;D;D	0.85130	0.994;0.994;0.997;0.991;0.978	T	0.67872	-0.5558	10	0.46703	T	0.11	-8.2239	13.3164	0.60409	0.0:0.9239:0.0:0.0761	.	315;315;237;315;332	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	F	332;315;315	ENSP00000337732:L332F;ENSP00000420394:L315F;ENSP00000378149:L315F	ENSP00000337732:L332F	L	+	1	0	RUNDC3B	87245194	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.325000	0.59234	2.469000	0.83416	0.467000	0.42956	CTT		0.353	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		19	53	0	0	0	0.010504	0	19	53				
SAMD9	54809	broad.mit.edu	37	7	92730776	92730776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:92730776G>C	ENST00000379958.2	-	3	4904	c.4635C>G	c.(4633-4635)atC>atG	p.I1545M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1545						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATTGATTCCATATT	0.388																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4633-4635)ATC>ATG		sterile alpha motif domain containing 9							91.0	97.0	95.0					7																	92730776		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92730776G>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4635C>G	7.37:g.92730776G>C	ENSP00000369292:p.Ile1545Met					SAMD9_uc003umg.2_Missense_Mutation_p.I1545M	p.I1545M	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4891	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1545					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4635C>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644235	0.14451	.	.	ENSG00000205413	ENST00000379958	T	0.22134	1.97	4.34	-1.01	0.10169	.	0.667724	0.12813	U	0.437024	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	B	0.33637	0.42	B	0.29524	0.103	T	0.18808	-1.0325	10	0.56958	D	0.05	.	5.677	0.17753	0.1591:0.0:0.3433:0.4976	.	1545	Q5K651	SAMD9_HUMAN	M	1545	ENSP00000369292:I1545M	ENSP00000369292:I1545M	I	-	3	3	SAMD9	92568712	0.000000	0.05858	0.055000	0.19348	0.941000	0.58515	-0.111000	0.10807	-0.066000	0.12998	0.609000	0.83330	ATC		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		19	73	0	0	0	0.006122	0	19	73				
SLC25A13	10165	broad.mit.edu	37	7	95822393	95822393	+	Missense_Mutation	SNP	G	G	A	rs199744651		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:95822393G>A	ENST00000265631.5	-	6	707	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R83C|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R191C			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	191	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACATGGGGGCGGATGGTGACC	0.448																																							uc003uof.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(571-573)CGC>TGC		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						148.0	132.0	137.0					7																	95822393		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95822393G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.571C>T	7.37:g.95822393G>A	ENSP00000265631:p.Arg191Cys					SLC25A13_uc003uog.3_Missense_Mutation_p.R191C|SLC25A13_uc011kik.1_Missense_Mutation_p.R83C	p.R191C	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		6	762	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		191			EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.571C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163185	0.57476	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79653	-1.29;-1.29;-1.29	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.79123	2.44	0.80722	D	1	B;B;B	0.31485	0.325;0.218;0.218	B;B;B	0.29663	0.105;0.049;0.049	T	0.79631	-0.1723	10	0.48119	T	0.1	-8.5497	13.9764	0.64275	0.0:0.0:0.8486:0.1514	.	83;191;191	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	C	191;191;83	ENSP00000265631:R191C;ENSP00000400101:R191C;ENSP00000440484:R83C	ENSP00000265631:R191C	R	-	1	0	SLC25A13	95660329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.836000	0.55813	2.817000	0.96982	0.563000	0.77884	CGC		0.448	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		12	64	0	0	0	0.000978	0	12	64				
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													N|||	1	0.000199681	0.0008	0.0	5008	,	,		25227	0.0		0.0	False		,,,				2504	0.0						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4189-4191)CCG>CTG		mucin 17 precursor							264.0	270.0	268.0					7																	100678887		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678887C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4190C>T	7.37:g.100678887C>T	ENSP00000302716:p.Pro1397Leu					MUC17_uc010lho.1_RNA	p.P1397L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1397			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4190C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.380	-0.126650	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.73	0.73	0.18271	.	.	.	.	.	T	0.01730	0.0055	L	0.27053	0.805	0.09310	N	1	P	0.47841	0.901	B	0.26202	0.067	T	0.48163	-0.9059	9	0.19590	T	0.45	.	4.9076	0.13806	0.0:1.0:0.0:0.0	.	1397	Q685J3	MUC17_HUMAN	L	1397	ENSP00000302716:P1397L	ENSP00000302716:P1397L	P	+	2	0	MUC17	100465607	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	1.355000	0.34068	0.720000	0.32209	0.134000	0.15878	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		138	373	0	0	0	0.00361	0	138	373				
FBXL13	222235	broad.mit.edu	37	7	102608499	102608499	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:102608499C>T	ENST00000313221.4	-	7	987	c.561G>A	c.(559-561)ttG>ttA	p.L187L	FBXL13_ENST00000379308.3_Silent_p.L187L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L187L|FBXL13_ENST00000455112.2_Silent_p.L187L|FBXL13_ENST00000436908.1_Silent_p.L187L|FBXL13_ENST00000379305.3_Silent_p.L187L|FBXL13_ENST00000379306.3_Silent_p.L187L|FBXL13_ENST00000393772.2_Silent_p.L187L	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	187	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTGTGTCATCAACATCCAGG	0.343																																							uc003vaq.2		NA																	0					0						c.(559-561)TTG>TTA		F-box and leucine-rich repeat protein 13 isoform							169.0	141.0	151.0					7																	102608499		2202	4300	6502	SO:0001819	synonymous_variant	222235							g.chr7:102608499C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.561G>A	7.37:g.102608499C>T						FBXL13_uc010liq.1_Silent_p.L2L|FBXL13_uc010lir.1_Silent_p.L187L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.L187L|FBXL13_uc003vav.2_RNA	p.L187L	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			7	988	-			187			F-box.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.561G>A	CCDS5726.1																																																																																				0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		9	67	0	0	0	0.004482	0	9	67				
CDHR3	222256	broad.mit.edu	37	7	105641938	105641938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:105641938A>T	ENST00000317716.9	+	7	824	c.744A>T	c.(742-744)gaA>gaT	p.E248D	CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.N149I|CDHR3_ENST00000478080.1_Missense_Mutation_p.E160D|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.E248D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCCTGGAGGAACTGAGTCCAG	0.517																																							uc003vdl.3		NA																	0				ovary(1)	1						c.(742-744)GAA>GAT		hypothetical protein LOC222256 precursor							155.0	152.0	153.0					7																	105641938		1999	4161	6160	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105641938A>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.744A>T	7.37:g.105641938A>T	ENSP00000325954:p.Glu248Asp					CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.E235D|CDHR3_uc011klt.1_Missense_Mutation_p.E160D|CDHR3_uc003vdn.2_5'UTR	p.E248D	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			7	852	+			248			Cadherin 3.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.744A>T	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.27|12.27	1.887318|1.887318	0.33348|0.33348	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000466045|ENST00000541203	T;T;T;T|T	0.37058|0.32515	1.22;1.22;1.22;1.22|1.45	5.49|5.49	0.378|0.378	0.16204|0.16204	Cadherin (3);Cadherin-like (1);|.	0.056695|.	0.64402|.	D|.	0.000002|.	T|T	0.39036|0.39036	0.1063|0.1063	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.957;1.0|.	P;D|.	0.87578|.	0.9;0.998|.	T|T	0.22836|0.22836	-1.0205|-1.0205	10|7	0.33141|0.87932	T|D	0.24|0	-30.9373|-30.9373	9.8474|9.8474	0.41034|0.41034	0.5864:0.0:0.4136:0.0|0.5864:0.0:0.4136:0.0	.|.	235;248|.	B3KYA0;Q6ZTQ4|.	.;CDHR3_HUMAN|.	D|I	248;248;160;6|149	ENSP00000439766:E248D;ENSP00000325954:E248D;ENSP00000417771:E160D;ENSP00000419017:E6D|ENSP00000443733:N149I	ENSP00000325954:E248D|ENSP00000419593:N61I	E|N	+|+	3|2	2|0	CDHR3|CDHR3	105429174|105429174	0.993000|0.993000	0.37304|0.37304	0.556000|0.556000	0.28293|0.28293	0.004000|0.004000	0.04260|0.04260	0.861000|0.861000	0.27885|0.27885	-0.237000|-0.237000	0.09739|0.09739	-0.899000|-0.899000	0.02877|0.02877	GAA|AAC		0.517	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		36	104	0	0	0	0.002836	0	36	104				
PIK3CG	5294	broad.mit.edu	37	7	106509209	106509209	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:106509209C>G	ENST00000359195.3	+	2	1513	c.1203C>G	c.(1201-1203)ccC>ccG	p.P401P	PIK3CG_ENST00000496166.1_Silent_p.P401P|PIK3CG_ENST00000440650.2_Silent_p.P401P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	401	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAACCAGCCCCAAACCCTTCA	0.502																																							uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1201-1203)CCC>CCG		phosphoinositide-3-kinase, catalytic, gamma							55.0	60.0	58.0					7																	106509209		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509209C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1203C>G	7.37:g.106509209C>G						PIK3CG_uc003vdu.2_Silent_p.P401P|PIK3CG_uc003vdw.2_Silent_p.P401P	p.P401P	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1288	+			401					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1203C>G	CCDS5739.1																																																																																				0.502	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			8	75	0	0	0	0.004482	0	8	75				
LAMB1	3912	broad.mit.edu	37	7	107575875	107575875	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:107575875T>C	ENST00000222399.6	-	27	4403	c.4173A>G	c.(4171-4173)tcA>tcG	p.S1391S	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Silent_p.S1415S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1391	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CGGCAGCGGCTGAAAGGTCTA	0.438																																							uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(4171-4173)TCA>TCG		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						181.0	173.0	176.0					7																	107575875		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107575875T>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4173A>G	7.37:g.107575875T>C						LAMB1_uc003vev.2_Silent_p.S1415S	p.S1391S	NM_002291	NP_002282	P07942	LAMB1_HUMAN			27	4508	-			1391			Domain II.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.4173A>G	CCDS5750.1																																																																																				0.438	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		12	215	0	0	0	0.001368	0	12	215				
C7orf66	154907	broad.mit.edu	37	7	108524073	108524073	+	Missense_Mutation	SNP	C	C	A	rs554132290		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:108524073C>A	ENST00000379007.2	-	2	393	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	113						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CTTAATTTCCCATTTCCTTTG	0.323																																							uc003vfo.2		NA																	0				ovary(2)	2						c.(337-339)ATG>ATT		hypothetical protein LOC154907							100.0	96.0	98.0					7																	108524073		2203	4299	6502	SO:0001583	missense	154907					integral to membrane		g.chr7:108524073C>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.339G>T	7.37:g.108524073C>A	ENSP00000368292:p.Met113Ile						p.M113I	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	387	-			113						Missense_Mutation	SNP	ENST00000379007.2	37	c.339G>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	c	2.359	-0.347011	0.05208	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.31	0.631	0.17699	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.26950	-1.0088	7	.	.	.	.	2.8858	0.05661	0.0:0.1748:0.2543:0.5709	.	113	A4D0T2	CG066_HUMAN	I	113	.	.	M	-	3	0	C7orf66	108311309	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.415000	0.07106	0.114000	0.18032	-0.320000	0.08662	ATG		0.323	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		22	55	1	0	3.5997e-14	0.002299	5.3746e-14	22	55				
CTTNBP2	83992	broad.mit.edu	37	7	117375441	117375441	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:117375441C>T	ENST00000160373.3	-	15	3661	c.3570G>A	c.(3568-3570)aaG>aaA	p.K1190K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1190					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGATTTTCTTCTTACTGGGAG	0.338																																							uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(3568-3570)AAG>AAA		cortactin binding protein 2							50.0	57.0	54.0					7																	117375441		2202	4300	6502	SO:0001819	synonymous_variant	83992							g.chr7:117375441C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3570G>A	7.37:g.117375441C>T							p.K1190K	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	15	3662	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1190					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3570G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.304|5.304	0.241482|0.241482	0.10077|0.10077	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000435233	.|.	.|.	.|.	5.52|5.52	2.7|2.7	0.31948|0.31948	.|.	.|.	.|.	.|.	.|.	T|T	0.53981|0.53981	0.1830|0.1830	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46789|0.46789	-0.9166|-0.9166	4|4	.|.	.|.	.|.	5.3665|5.3665	5.6923|5.6923	0.17837|0.17837	0.0841:0.3769:0.4368:0.1021|0.0841:0.3769:0.4368:0.1021	.|.	.|.	.|.	.|.	K|K	678|175	.|.	.|.	E|R	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117162677|117162677	0.999000|0.999000	0.42202|0.42202	0.923000|0.923000	0.36655|0.36655	0.699000|0.699000	0.40488|0.40488	0.816000|0.816000	0.27267|0.27267	0.804000|0.804000	0.34136|0.34136	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.338	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		8	161	0	0	0	0.00308	0	8	161				
SSU72P8	136157	broad.mit.edu	37	7	124116560	124116560	+	IGR	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:124116560G>T								RP5-921G16.1 (81388 upstream) : RNU6-102P (171212 downstream)																							GAGGCTACCAGGACGAAGACC	0.468																																							uc011kod.1		NA																	0					NA						c.(136-138)GGA>TGA		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;							150.0	143.0	145.0					7																	124116560		1943	4151	6094	SO:0001628	intergenic_variant	0							g.chr7:124116560G>T																													7.37:g.124116560G>T							p.G46*	NM_001085395	NP_001078864					1	136	+									Nonsense_Mutation	SNP		37	c.136G>T																																																																																				0	0.468									5	141	1	0	3.59834e-05	0.001168	4.19342e-05	5	141				
GPR37	2861	broad.mit.edu	37	7	124404249	124404249	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:124404249G>C	ENST00000303921.2	-	1	1432	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	261					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCGCGTAGGCTCCATAGGA	0.607																																							uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(781-783)GCC>GGC		G protein-coupled receptor 37 precursor							77.0	77.0	77.0					7																	124404249		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404249G>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.782C>G	7.37:g.124404249G>C	ENSP00000306449:p.Ala261Gly						p.A261G	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1433	-			261			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.782C>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298505	0.95574	.	.	ENSG00000170775	ENST00000303921	T	0.37915	1.17	5.49	5.49	0.81192	.	0.224693	0.46145	D	0.000305	T	0.60392	0.2265	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.59542	-0.7435	10	0.59425	D	0.04	-31.3319	18.1891	0.89802	0.0:0.0:1.0:0.0	.	261	O15354	GPR37_HUMAN	G	261	ENSP00000306449:A261G	ENSP00000306449:A261G	A	-	2	0	GPR37	124191485	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.645000	0.98471	2.872000	0.98467	0.638000	0.83543	GCC		0.607	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		9	47	0	0	0	0.008291	0	9	47				
CCDC136	64753	broad.mit.edu	37	7	128454947	128454947	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:128454947T>A	ENST00000297788.4	+	15	3386	c.3019T>A	c.(3019-3021)Tct>Act	p.S1007T	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1007						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCGGATACTTCTGAGAGCGA	0.468																																							uc003vnv.1		NA																	0				ovary(2)	2						c.(3019-3021)TCT>ACT		coiled-coil domain containing 136							47.0	48.0	48.0					7																	128454947		1913	4136	6049	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128454947T>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3019T>A	7.37:g.128454947T>A	ENSP00000297788:p.Ser1007Thr					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.S823T|CCDC136_uc010llq.1_Missense_Mutation_p.S376T|CCDC136_uc003vny.1_Intron	p.S1007T	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			15	3386	+			1007					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.3019T>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	T	6.231	0.410682	0.11812	.	.	ENSG00000128596	ENST00000297788;ENST00000397697	T	0.32515	1.45	5.23	-1.78	0.07957	.	2.098620	0.01571	N	0.020572	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	B;B	0.16396	0.017;0.006	B;B	0.12156	0.007;0.005	T	0.12553	-1.0543	10	0.02654	T	1	0.4838	1.3112	0.02098	0.288:0.0855:0.2967:0.3298	.	1007;1007	Q96JN2-4;Q96JN2	.;CC136_HUMAN	T	1007	ENSP00000297788:S1007T	ENSP00000297788:S1007T	S	+	1	0	CCDC136	128242183	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.521000	0.06245	-0.067000	0.12976	0.528000	0.53228	TCT		0.468	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		3	14	0	0	0	0.004672	0	3	14				
FLNC	2318	broad.mit.edu	37	7	128480720	128480720	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:128480720C>A	ENST00000325888.8	+	10	1929	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	FLNC_ENST00000346177.6_Silent_p.I556I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	556					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTACGCCATCCCTCGCAGGT	0.637																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1666-1668)ATC>ATA		gamma filamin isoform a							138.0	153.0	148.0					7																	128480720		2125	4223	6348	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480720C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1668C>A	7.37:g.128480720C>A						FLNC_uc003voa.3_Silent_p.I556I	p.I556I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			10	1877	+			556			Filamin 3.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1668C>A	CCDS43644.1																																																																																				0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			23	90	1	0	2.27731e-05	0.001882	2.67043e-05	23	90				
EXOC4	60412	broad.mit.edu	37	7	132937864	132937864	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:132937864G>C	ENST00000253861.4	+	1	36	c.7G>C	c.(7-9)Gca>Cca	p.A3P	EXOC4_ENST00000539845.1_5'Flank|EXOC4_ENST00000393161.2_Missense_Mutation_p.A3P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	3					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CAAGATGGCGGCAGAAGCAGC	0.577																																							uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(7-9)GCA>CCA		SEC8 protein isoform a							71.0	74.0	73.0					7																	132937864		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132937864G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.7G>C	7.37:g.132937864G>C	ENSP00000253861:p.Ala3Pro					EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Missense_Mutation_p.A3P|EXOC4_uc003vrj.2_Missense_Mutation_p.A3P	p.A3P	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			1	42	+		Esophageal squamous(399;0.129)	3					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.7G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362098	0.82353	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.84	4.96	0.65561	.	0.161766	0.53938	D	0.000046	T	0.22666	0.0547	N	0.02011	-0.69	0.80722	D	1	P;P	0.45348	0.856;0.567	B;B	0.39876	0.312;0.137	T	0.20773	-1.0265	9	0.40728	T	0.16	.	12.7024	0.57041	0.0757:0.0:0.9243:0.0	.	3;3	Q96A65;Q8TAR2	EXOC4_HUMAN;.	P	3	.	ENSP00000253861:A3P	A	+	1	0	EXOC4	132588404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.790000	0.69038	1.628000	0.50416	0.650000	0.86243	GCA		0.577	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		12	73	0	0	0	0.00245	0	12	73				
DGKI	9162	broad.mit.edu	37	7	137154319	137154319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:137154319G>C	ENST00000288490.5	-	25	2474	c.2474C>G	c.(2473-2475)tCt>tGt	p.S825C	DGKI_ENST00000424189.2_Missense_Mutation_p.S828C|DGKI_ENST00000446122.1_Missense_Mutation_p.S807C|DGKI_ENST00000453654.2_Missense_Mutation_p.S525C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	825					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACCGAGGAGAGAGCCTCTG	0.527																																							uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2473-2475)TCT>TGT		diacylglycerol kinase, iota							133.0	118.0	123.0					7																	137154319		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137154319G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2474C>G	7.37:g.137154319G>C	ENSP00000288490:p.Ser825Cys					DGKI_uc003vtu.2_Missense_Mutation_p.S525C	p.S825C	NM_004717	NP_004708	O75912	DGKI_HUMAN			25	2475	-			825					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2474C>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154690	0.78114	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.39592	1.48;1.07;1.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.971;0.984	T	0.65434	-0.6169	10	0.72032	D	0.01	.	14.5596	0.68126	0.0:0.0:0.8538:0.1462	.	525;825	E9PFX6;O75912	.;DGKI_HUMAN	C	525;773;828;825;807	ENSP00000392161:S525C;ENSP00000288490:S825C;ENSP00000399131:S807C	ENSP00000288490:S825C	S	-	2	0	DGKI	136804859	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.198000	0.77823	2.663000	0.90544	0.655000	0.94253	TCT		0.527	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		10	47	0	0	0	0.000978	0	10	47				
TAS2R4	50832	broad.mit.edu	37	7	141478932	141478932	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:141478932C>T	ENST00000247881.2	+	1	691	c.644C>T	c.(643-645)aCt>aTt	p.T215I	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	215					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAAAATGCCACTGGTTTCTGG	0.443																																							uc003vwq.1		NA																	0					0						c.(643-645)ACT>ATT		taste receptor T2R4							117.0	112.0	114.0					7																	141478932		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478932C>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.644C>T	7.37:g.141478932C>T	ENSP00000247881:p.Thr215Ile						p.T215I	NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	644	+	Melanoma(164;0.0171)		215			Cytoplasmic (Potential).		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.644C>T	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.234316	0.39498	.	.	ENSG00000127364	ENST00000247881	T	0.38077	1.16	5.31	1.26	0.21427	.	0.429633	0.24695	N	0.036346	T	0.53850	0.1822	M	0.79343	2.45	0.09310	N	1	D	0.57899	0.981	P	0.62014	0.897	T	0.47812	-0.9088	10	0.56958	D	0.05	.	11.1562	0.48489	0.1299:0.4918:0.3782:0.0	.	215	Q9NYW5	TA2R4_HUMAN	I	215	ENSP00000247881:T215I	ENSP00000247881:T215I	T	+	2	0	TAS2R4	141125401	0.000000	0.05858	0.017000	0.16124	0.756000	0.42949	-0.724000	0.04947	0.370000	0.24538	0.632000	0.83419	ACT		0.443	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			4	98	0	0	0	0.009096	0	4	98				
MGAM	8972	broad.mit.edu	37	7	141794611	141794611	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:141794611A>T	ENST00000549489.2	+	40	4813	c.4718A>T	c.(4717-4719)cAg>cTg	p.Q1573L	MGAM_ENST00000475668.2_Missense_Mutation_p.Q2469L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1573	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGATGCAGCTGGGGGCC	0.498																																							uc003vwy.2		NA																	0				ovary(2)	2						c.(4717-4719)CAG>CTG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						62.0	61.0	61.0					7																	141794611		1896	4104	6000	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141794611A>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4718A>T	7.37:g.141794611A>T	ENSP00000447378:p.Gln1573Leu						p.Q1573L	NM_004668	NP_004659	O43451	MGA_HUMAN			40	4772	+	Melanoma(164;0.0272)		1573			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4718A>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879070	0.91740	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.93426	-3.22	5.37	5.37	0.77165	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97461	0.9169	M	0.93854	3.465	0.36522	D	0.870193	D	0.89917	1.0	D	0.91635	0.999	D	0.99965	1.1824	9	0.87932	D	0	.	14.6414	0.68729	1.0:0.0:0.0:0.0	.	1573	O43451	MGA_HUMAN	L	1573;2470	ENSP00000447378:Q1573L	ENSP00000373973:Q1573L	Q	+	2	0	MGAM	141441080	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.106000	0.94253	2.154000	0.67381	0.533000	0.62120	CAG		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	35	0	0	0	0.001168	0	5	35				
EPHB6	2051	broad.mit.edu	37	7	142561848	142561848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:142561848G>T	ENST00000392957.2	+	7	1077	c.290G>T	c.(289-291)cGg>cTg	p.R97L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R97L|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTGTGGAGCGGCGCGGGGCC	0.657																																							uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(289-291)CGG>CTG		ephrin receptor EphB6 precursor							92.0	104.0	100.0					7																	142561848		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561848G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.290G>T	7.37:g.142561848G>T	ENSP00000376684:p.Arg97Leu					EPHB6_uc011ksu.1_Missense_Mutation_p.R97L|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	p.R97L	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1077	+	Melanoma(164;0.059)		97			Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.290G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862374	0.71949	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.11169	2.8;2.8	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.41396	D	0.000893	T	0.39306	0.1073	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26503	-1.0101	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	97	O15197	EPHB6_HUMAN	L	97	ENSP00000376684:R97L;ENSP00000410789:R97L	ENSP00000376684:R97L	R	+	2	0	EPHB6	142271970	1.000000	0.71417	0.945000	0.38365	0.055000	0.15305	9.865000	0.99609	2.640000	0.89533	0.655000	0.94253	CGG		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			25	168	1	0	6.36457e-07	0.003954	7.90591e-07	25	168				
TRPV6	55503	broad.mit.edu	37	7	142573593	142573593	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:142573593G>C	ENST00000359396.3	-	7	1072	c.827C>G	c.(826-828)aCt>aGt	p.T276S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	276					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATAGAGAGTCGAGGTCAG	0.527																																							uc003wbx.1		NA																	0				ovary(2)	2						c.(826-828)ACT>AGT		transient receptor potential cation channel,							211.0	161.0	178.0					7																	142573593		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573593G>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.827C>G	7.37:g.142573593G>C	ENSP00000352358:p.Thr276Ser					TRPV6_uc003wbw.1_Missense_Mutation_p.T62S|TRPV6_uc010lou.1_Missense_Mutation_p.T147S	p.T276S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			7	1043	-	Melanoma(164;0.059)		276			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.827C>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	5.356	0.251045	0.10130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.46451	0.87	5.08	5.08	0.68730	.	0.374074	0.30556	N	0.009380	T	0.24275	0.0588	N	0.21282	0.65	0.25486	N	0.987695	B	0.13145	0.007	B	0.13407	0.009	T	0.20438	-1.0275	10	0.02654	T	1	-21.9128	10.9626	0.47393	0.095:0.0:0.905:0.0	.	276	Q9H1D0	TRPV6_HUMAN	S	276;108	ENSP00000352358:T276S	ENSP00000310825:T108S	T	-	2	0	TRPV6	142283715	0.897000	0.30589	0.823000	0.32752	0.026000	0.11368	3.429000	0.52800	2.381000	0.81170	0.655000	0.94253	ACT		0.527	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		22	101	0	0	0	0.00333	0	22	101				
CLCN1	1180	broad.mit.edu	37	7	143028687	143028687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:143028687C>A	ENST00000343257.2	+	10	1195	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	370					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R370S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTATCTGCATCGCCAAGTCAT	0.478																																							uc003wcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1108-1110)CGC>AGC		chloride channel 1, skeletal muscle							135.0	120.0	125.0					7																	143028687		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028687C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1108C>A	7.37:g.143028687C>A	ENSP00000339867:p.Arg370Ser					CLCN1_uc011ktc.1_Missense_Mutation_p.R32S	p.R370S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			10	1195	+	Melanoma(164;0.205)		370			Helical; (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1108C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426567	0.83667	.	.	ENSG00000188037	ENST00000343257	D	0.92911	-3.13	5.12	5.12	0.69794	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.76328	2.33	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96223	0.9162	10	0.66056	D	0.02	.	18.5517	0.91068	0.0:1.0:0.0:0.0	.	370	P35523	CLCN1_HUMAN	S	370	ENSP00000339867:R370S	ENSP00000339867:R370S	R	+	1	0	CLCN1	142738809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	2.398000	0.81561	0.637000	0.83480	CGC		0.478	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		7	69	1	0	0.000274275	0.004482	0.000303231	7	69				
EPHA1	2041	broad.mit.edu	37	7	143094673	143094673	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:143094673T>G	ENST00000275815.3	-	9	1779	c.1693A>C	c.(1693-1695)Att>Ctt	p.I565L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	565					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAAACGAGAATCCCAAGCAGC	0.622																																							uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(1693-1695)ATT>CTT		ephrin receptor EphA1 precursor							84.0	82.0	83.0					7																	143094673		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143094673T>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1693A>C	7.37:g.143094673T>G	ENSP00000275815:p.Ile565Leu						p.I565L	NM_005232	NP_005223	P21709	EPHA1_HUMAN			9	1780	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	565			Helical; (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1693A>C	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.327295	0.01309	.	.	ENSG00000146904	ENST00000275815	T	0.11063	2.81	5.72	3.27	0.37495	.	0.326021	0.25386	N	0.031042	T	0.03783	0.0107	N	0.02916	-0.46	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.39251	-0.9623	10	0.25751	T	0.34	.	6.3074	0.21147	0.1951:0.0:0.2171:0.5878	.	565	P21709	EPHA1_HUMAN	L	565	ENSP00000275815:I565L	ENSP00000275815:I565L	I	-	1	0	EPHA1	142804795	0.007000	0.16637	0.300000	0.25030	0.152000	0.21847	0.236000	0.17967	2.170000	0.68504	0.533000	0.62120	ATT		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			3	51	0	0	0	0.004672	0	3	51				
EPHA1	2041	broad.mit.edu	37	7	143098433	143098433	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:143098433C>A	ENST00000275815.3	-	3	502	c.416G>T	c.(415-417)cGg>cTg	p.R139L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	139	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R139Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAACAAGGGCCGTCGGAGCTG	0.587																																							uc003wcz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|lung(1)|breast(1)	5						c.(415-417)CGG>CTG		ephrin receptor EphA1 precursor							90.0	93.0	92.0					7																	143098433		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098433C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.416G>T	7.37:g.143098433C>A	ENSP00000275815:p.Arg139Leu						p.R139L	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	503	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	139			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.416G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206687	0.79127	.	.	ENSG00000146904	ENST00000275815	T	0.09630	2.96	4.63	4.63	0.57726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000149	T	0.24353	0.0590	L	0.35723	1.085	0.42698	D	0.993602	D	0.89917	1.0	D	0.91635	0.999	T	0.01371	-1.1372	10	0.72032	D	0.01	.	15.8453	0.78883	0.0:1.0:0.0:0.0	.	139	P21709	EPHA1_HUMAN	L	139	ENSP00000275815:R139L	ENSP00000275815:R139L	R	-	2	0	EPHA1	142808555	0.915000	0.31059	0.990000	0.47175	0.995000	0.86356	3.980000	0.56895	2.402000	0.81655	0.655000	0.94253	CGG		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			11	94	1	0	1.58986e-06	0.008291	1.92726e-06	11	94				
CNTNAP2	26047	broad.mit.edu	37	7	148112510	148112510	+	Splice_Site	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:148112510C>G	ENST00000361727.3	+	24	4314	c.3798C>G	c.(3796-3798)ggC>ggG	p.G1266G	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Splice_Site_p.G325G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1266					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCCGTCAGGCGTCATTGCTG	0.557										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3796-3798)GGC>GGG		cell recognition molecule Caspr2 precursor							72.0	58.0	63.0					7																	148112510		2203	4300	6503	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112510C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3797-1C>G	7.37:g.148112510C>G		HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Silent_p.G43G	p.G1266G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4314	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1266			Helical; (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3798C>G	CCDS5889.1																																																																																				0.557	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Silent	6	47	0	0	0	0.001984	0	6	47				
GIMAP6	474344	broad.mit.edu	37	7	150324822	150324823	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150324822_150324823CC>AA	ENST00000328902.5	-	3	1079_1080	c.863_864GG>TT	c.(862-864)gGG>gTT	p.G288V	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.G288G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCAGCCTTCCCCAGCAGGCA	0.584																																							uc003whn.2		NA																	1	Substitution - coding silent(1)		skin(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(862-864)GGG>GTT		GTPase, IMAP family member 6																																				SO:0001583	missense	474344						GTP binding	g.chr7:150324822_150324823CC>AA	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.863_864delinsAA	7.37:g.150324822_150324823delinsAA	ENSP00000330374:p.Gly288Val					GIMAP6_uc003whm.2_Missense_Mutation_p.G208V	p.G288V	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1287_1288	-			288					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	DNP	ENST00000328902.5	37	c.863_864GG>TT	CCDS34778.1																																																																																				0.584	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		16	77	0	0	0	0.004672	0	16	77				
ABCB8	11194	broad.mit.edu	37	7	150730964	150730965	+	Missense_Mutation	DNP	TT	TT	CC			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150730964_150730965TT>CC	ENST00000297504.6	+	3	485_486	c.419_420TT>CC	c.(418-420)tTT>tCC	p.F140S	ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000356058.4_Missense_Mutation_p.F160S|ABCB8_ENST00000498578.1_Missense_Mutation_p.F123S|ABCB8_ENST00000358849.4_Missense_Mutation_p.F123S|ABCB8_ENST00000477092.1_Missense_Mutation_p.F123S|ABCB8_ENST00000477719.1_Missense_Mutation_p.F123S|ABCB8_ENST00000542328.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	140					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTCTGGCAGTTTCTGCACCCCC	0.624																																							uc003wil.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(418-420)TTT>TCC		ATP-binding cassette, sub-family B, member 8																																				SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150730964_150730965TT>CC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	Exception_encountered	7.37:g.150730964_150730965delinsCC	ENSP00000297504:p.Phe140Ser					ABCB8_uc003wii.2_Missense_Mutation_p.F160S|ABCB8_uc003wij.3_Missense_Mutation_p.F123S|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.F123S|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.F123S	p.F140S	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	512_513	+			140					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	DNP	ENST00000297504.6	37	c.419_420TT>CC																																																																																					0.624	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		9	50	0	0	0	0.004672	0	9	50				
DEFA4	1669	broad.mit.edu	37	8	6793589	6793589	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:6793589G>C	ENST00000297435.2	-	3	371	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	83					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCACCAATGAGGCAGTTCCCA	0.512																																							uc003wqu.1		NA																	0				large_intestine(1)	1						c.(247-249)CTC>GTC		defensin, alpha 4 preproprotein							141.0	121.0	127.0					8																	6793589		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6793589G>C	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.247C>G	8.37:g.6793589G>C	ENSP00000297435:p.Leu83Val						p.L83V	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	3	298	-			83					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.247C>G	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.026665	0.00410	.	.	ENSG00000164821	ENST00000297435	T	0.44083	0.93	1.32	-2.64	0.06114	Beta defensin/Neutrophil defensin (1);Mammalian defensins (2);	.	.	.	.	T	0.17916	0.0430	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	8	0.16420	T	0.52	.	0.1043	0.00051	0.2351:0.1888:0.2414:0.3348	.	83	P12838	DEF4_HUMAN	V	83	ENSP00000297435:L83V	ENSP00000297435:L83V	L	-	1	0	DEFA4	6780999	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-3.281000	0.00528	-1.501000	0.01817	-2.854000	0.00102	CTC		0.512	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		9	50	0	0	0	0.000978	0	9	50				
C8orf74	203076	broad.mit.edu	37	8	10557970	10557970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:10557970G>T	ENST00000304519.5	+	4	903	c.874G>T	c.(874-876)Gca>Tca	p.A292S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	292										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAAAGCGAAGGCAAGGAAGTA	0.622																																							uc003wtd.1		NA																	0					0						c.(874-876)GCA>TCA		hypothetical protein LOC203076							35.0	44.0	41.0					8																	10557970		2045	4192	6237	SO:0001583	missense	203076							g.chr8:10557970G>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.874G>T	8.37:g.10557970G>T	ENSP00000307129:p.Ala292Ser					C8orf74_uc003wte.1_RNA	p.A292S	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	903	+			292					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.874G>T	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693643	0.30052	.	.	ENSG00000171060	ENST00000304519	T	0.35605	1.3	3.98	3.11	0.35812	.	0.636347	0.14785	N	0.298585	T	0.34221	0.0890	M	0.65975	2.015	0.09310	N	1	P	0.40180	0.705	B	0.41510	0.359	T	0.12656	-1.0539	10	0.12103	T	0.63	.	7.9479	0.29998	0.1111:0.0:0.8889:0.0	.	292	Q6P047	CH074_HUMAN	S	292	ENSP00000307129:A292S	ENSP00000307129:A292S	A	+	1	0	C8orf74	10595380	0.774000	0.28592	0.041000	0.18516	0.009000	0.06853	2.553000	0.45837	1.293000	0.44690	-0.215000	0.12644	GCA		0.622	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		6	7	1	0	5.9392e-07	0.001168	7.40191e-07	6	7				
DLC1	10395	broad.mit.edu	37	8	12952352	12952352	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:12952352C>T	ENST00000276297.4	-	12	3851	c.3442G>A	c.(3442-3444)Gac>Aac	p.D1148N	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.D637N|DLC1_ENST00000512044.2_Missense_Mutation_p.D745N|DLC1_ENST00000358919.2_Missense_Mutation_p.D711N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1148	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGCATGTCTGCCACGTCA	0.473																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3442-3444)GAC>AAC		deleted in liver cancer 1 isoform 1							99.0	93.0	95.0					8																	12952352		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952352C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3442G>A	8.37:g.12952352C>T	ENSP00000276297:p.Asp1148Asn					DLC1_uc003wwk.1_Missense_Mutation_p.D711N|DLC1_uc003wwl.1_Missense_Mutation_p.D745N|DLC1_uc011kxx.1_Missense_Mutation_p.D637N	p.D1148N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			12	3886	-			1148			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3442G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743368	0.96873	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.046026	0.85682	N	0.000000	T	0.64821	0.2633	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.998	D;D;D	0.91635	0.981;0.999;0.987	T	0.67348	-0.5693	10	0.87932	D	0	.	18.8143	0.92071	0.0:1.0:0.0:0.0	.	1148;745;711	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	N	1148;711;87;745;637	ENSP00000276297:D1148N;ENSP00000351797:D711N;ENSP00000422595:D745N;ENSP00000428028:D637N	ENSP00000276297:D1148N	D	-	1	0	DLC1	12996723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.761000	0.94854	0.650000	0.86243	GAC		0.473	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	34	0	0	0	0.001168	0	5	34				
BMP1	649	broad.mit.edu	37	8	22023023	22023023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:22023023G>C	ENST00000306385.5	+	1	775	c.105G>C	c.(103-105)gaG>gaC	p.E35D	BMP1_ENST00000306349.8_Missense_Mutation_p.E35D|BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000397814.3_Missense_Mutation_p.E35D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	35					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGCGGAGGAGGACGACTCGG	0.761																																							uc003xbg.2		NA																	0				ovary(2)|breast(1)	3						c.(103-105)GAG>GAC		bone morphogenetic protein 1 isoform 3							14.0	17.0	16.0					8																	22023023		2189	4263	6452	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22023023G>C		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.105G>C	8.37:g.22023023G>C	ENSP00000305714:p.Glu35Asp					BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Missense_Mutation_p.E35D|BMP1_uc003xbb.2_Missense_Mutation_p.E35D|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.E35D	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	1	349	+			35					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.105G>C	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660253	0.67586	.	.	ENSG00000168487	ENST00000306385;ENST00000354870;ENST00000397816;ENST00000306349;ENST00000397814	T;D;T;T;T	0.82433	0.02;-1.61;-0.24;-0.14;0.95	4.19	2.36	0.29203	.	.	.	.	.	T	0.81545	0.4845	L	0.52011	1.625	0.25688	N	0.98572	P;P;P	0.51057	0.481;0.907;0.941	B;P;P	0.51415	0.216;0.526;0.669	T	0.70124	-0.4958	9	0.51188	T	0.08	.	5.6213	0.17459	0.2495:0.0:0.7505:0.0	.	35;35;35	P13497;P13497-2;P13497-6	BMP1_HUMAN;.;.	D	35	ENSP00000305714:E35D;ENSP00000346941:E35D;ENSP00000380917:E35D;ENSP00000306121:E35D;ENSP00000380915:E35D	ENSP00000306121:E35D	E	+	3	2	BMP1	22078968	1.000000	0.71417	0.999000	0.59377	0.480000	0.33159	1.099000	0.31013	0.740000	0.32651	0.655000	0.94253	GAG		0.761	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		6	9	0	0	0	0.001168	0	6	9				
ZMAT4	79698	broad.mit.edu	37	8	40554910	40554910	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:40554910G>T	ENST00000297737.6	-	4	349	c.203C>A	c.(202-204)gCc>gAc	p.A68D	ZMAT4_ENST00000315769.7_Missense_Mutation_p.A68D	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	68						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACCATGTCGGCATCACTTCC	0.478																																							uc003xnr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(202-204)GCC>GAC		zinc finger, matrin type 4 isoform a							83.0	70.0	74.0					8																	40554910		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554910G>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.203C>A	8.37:g.40554910G>T	ENSP00000297737:p.Ala68Asp					ZMAT4_uc003xns.2_Missense_Mutation_p.A68D	p.A68D	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	349	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	68					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.203C>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	4.258	0.046889	0.08243	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.41758	0.99;0.99;0.99	6.17	5.23	0.72850	.	0.203730	0.50627	D	0.000104	T	0.16981	0.0408	N	0.02539	-0.55	0.39269	D	0.964351	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.21314	-1.0249	10	0.11794	T	0.64	-16.4818	10.7867	0.46409	0.0:0.1265:0.7097:0.1638	.	68;68	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	D	68	ENSP00000319785:A68D;ENSP00000297737:A68D;ENSP00000428423:A68D	ENSP00000297737:A68D	A	-	2	0	ZMAT4	40674067	1.000000	0.71417	0.946000	0.38457	0.188000	0.23474	4.192000	0.58378	2.941000	0.99782	0.655000	0.94253	GCC		0.478	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		16	26	1	0	6.31663e-08	0.003163	8.21161e-08	16	26				
ANK1	286	broad.mit.edu	37	8	41530184	41530184	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:41530184G>T	ENST00000347528.4	-	38	4867	c.4784C>A	c.(4783-4785)gCc>gAc	p.A1595D	ANK1_ENST00000352337.4_Missense_Mutation_p.A1595D|ANK1_ENST00000265709.8_Missense_Mutation_p.A1636D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1595D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1595D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1595D|ANK1_ENST00000396942.1_Missense_Mutation_p.A1595D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1595	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGACCTGTGGCATCAGAGTC	0.597																																							uc003xok.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4783-4785)GCC>GAC		ankyrin 1 isoform 1							85.0	86.0	85.0					8																	41530184		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530184G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4784C>A	8.37:g.41530184G>T	ENSP00000339620:p.Ala1595Asp					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A1595D|ANK1_uc003xoj.2_Missense_Mutation_p.A1595D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.A1636D	p.A1595D	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4868	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1595			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4784C>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012404	0.75046	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.46;-0.46;-0.47;-0.45;-0.48	5.24	5.24	0.73138	.	0.064892	0.64402	D	0.000014	T	0.76385	0.3980	L	0.43152	1.355	0.58432	D	0.999994	D;P;P;P	0.56521	0.976;0.644;0.619;0.532	P;B;P;P	0.58660	0.843;0.282;0.474;0.506	T	0.77305	-0.2637	10	0.54805	T	0.06	.	16.4381	0.83884	0.0:0.0:1.0:0.0	.	1636;1595;1595;1595	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	D	1595;1595;1595;1595;1595;1595;1636	ENSP00000339620:A1595D;ENSP00000289734:A1595D;ENSP00000369082:A1595D;ENSP00000380149:A1595D;ENSP00000380147:A1595D;ENSP00000309131:A1595D;ENSP00000265709:A1636D	ENSP00000265709:A1636D	A	-	2	0	ANK1	41649341	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.415000	0.66411	2.635000	0.89317	0.552000	0.68991	GCC		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		78	83	1	0	1.25089e-41	0.00361	2.18833e-41	78	83				
TRIM55	84675	broad.mit.edu	37	8	67062624	67062624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67062624G>A	ENST00000315962.4	+	7	1281	c.908G>A	c.(907-909)gGc>gAc	p.G303D	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.G303D|TRIM55_ENST00000276573.7_Missense_Mutation_p.G303D	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	303	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATAGAACATGGCTATGAGAAC	0.368																																							uc003xvv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(907-909)GGC>GAC		tripartite motif-containing 55 isoform 1							114.0	110.0	111.0					8																	67062624		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67062624G>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.908G>A	8.37:g.67062624G>A	ENSP00000323913:p.Gly303Asp					TRIM55_uc003xvu.2_Missense_Mutation_p.G303D|TRIM55_uc003xvw.2_Missense_Mutation_p.G303D|TRIM55_uc003xvx.2_Intron	p.G303D	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		7	1134	+		Lung NSC(129;0.138)|all_lung(136;0.221)	303			COS.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.908G>A	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375321	0.61735	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.33216	1.43;1.49;1.42	5.84	4.97	0.65823	COS domain (1);	0.044348	0.85682	N	0.000000	T	0.49287	0.1548	M	0.68593	2.085	0.80722	D	1	D;B;B	0.53885	0.963;0.07;0.045	P;B;B	0.57846	0.828;0.076;0.114	T	0.51332	-0.8719	10	0.54805	T	0.06	.	14.9894	0.71374	0.0682:0.0:0.9318:0.0	.	303;303;303	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	D	303	ENSP00000323913:G303D;ENSP00000297348:G303D;ENSP00000276573:G303D	ENSP00000276573:G303D	G	+	2	0	TRIM55	67225178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	1.482000	0.48325	0.650000	0.86243	GGC		0.368	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		7	102	0	0	0	0.001984	0	7	102				
CRH	1392	broad.mit.edu	37	8	67089250	67089250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67089250C>G	ENST00000276571.3	-	2	909	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	155					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGAGGCTCCTCGGACCGCCTT	0.672											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xvy.1		NA																	0					0						c.(463-465)GAG>CAG		corticotropin releasing hormone precursor	Corticotropin(DB01285)						52.0	42.0	45.0					8																	67089250		2203	4300	6503	SO:0001583	missense	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089250C>G		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.463G>C	8.37:g.67089250C>G	ENSP00000276571:p.Glu155Gln		OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.E155Q	NM_000756	NP_000747	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	648	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	155					B3KQS4	Missense_Mutation	SNP	ENST00000276571.3	37	c.463G>C	CCDS6188.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934915	0.52866	.	.	ENSG00000147571	ENST00000276571	.	.	.	6.03	2.19	0.27852	Corticotropin-releasing factor, CRF (1);	0.229435	0.42548	N	0.000689	T	0.48333	0.1494	L	0.55990	1.75	0.58432	D	0.999995	B	0.29037	0.231	B	0.24701	0.055	T	0.38972	-0.9636	9	0.52906	T	0.07	.	9.0783	0.36536	0.0:0.6492:0.2269:0.1238	.	155	P06850	CRF_HUMAN	Q	155	.	ENSP00000276571:E155Q	E	-	1	0	CRH	67251804	0.997000	0.39634	0.906000	0.35671	0.991000	0.79684	3.309000	0.51903	0.125000	0.18397	0.557000	0.71058	GAG		0.672	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		10	27	0	0	0	0.006214	0	10	27				
ADHFE1	137872	broad.mit.edu	37	8	67355077	67355077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67355077G>A	ENST00000396623.3	+	3	173	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E48K|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	48					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTATGCCTTTGAGGTATATTC	0.274																																							uc003xwb.3		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(142-144)GAG>AAG		alcohol dehydrogenase, iron containing, 1							88.0	80.0	82.0					8																	67355077		1787	4065	5852	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67355077G>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.142G>A	8.37:g.67355077G>A	ENSP00000379865:p.Glu48Lys					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Intron|ADHFE1_uc003xwe.3_Intron|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Intron|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	p.E48K	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		3	176	+		Lung NSC(129;0.197)	48					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.142G>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	G	32	5.174881	0.94807	.	.	ENSG00000147576	ENST00000379385;ENST00000396623	T	0.51071	0.72	6.02	6.02	0.97574	.	0.000000	0.85682	U	0.000000	T	0.72003	0.3407	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.73646	-0.3917	10	0.72032	D	0.01	-11.0276	19.1045	0.93287	0.0:0.0:1.0:0.0	.	48	Q8IWW8	HOT_HUMAN	K	48	ENSP00000379865:E48K	ENSP00000368695:E48K	E	+	1	0	ADHFE1	67517631	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.317000	0.72862	2.865000	0.98341	0.655000	0.94253	GAG		0.274	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		18	65	0	0	0	0.006122	0	18	65				
ARFGEF1	10565	broad.mit.edu	37	8	68200218	68200218	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:68200218T>C	ENST00000262215.3	-	7	1388	c.999A>G	c.(997-999)gtA>gtG	p.V333V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	333					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCATTTCTTCTACAATGTTCT	0.323																																							uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(997-999)GTA>GTG		brefeldin A-inhibited guanine							199.0	192.0	194.0					8																	68200218		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68200218T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.999A>G	8.37:g.68200218T>C							p.V333V	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	1389	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	333					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.999A>G	CCDS6199.1																																																																																				0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		30	111	0	0	0	0.002445	0	30	111				
NCOA2	10499	broad.mit.edu	37	8	71078980	71078980	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:71078980C>A	ENST00000452400.2	-	7	732	c.551G>T	c.(550-552)gGa>gTa	p.G184V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	184					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)		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)			AGACCAAGATCCCCCATTTAC	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(550-552)GGA>GTA		nuclear receptor coactivator 2							165.0	159.0	161.0					8																	71078980		1863	4095	5958	SO:0001583	missense	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.chr8:71078980C>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.551G>T	8.37:g.71078980C>A	ENSP00000399968:p.Gly184Val						p.G184V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		7	713	-	Breast(64;0.201)		184					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.551G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	5.283	0.237684	0.10023	.	.	ENSG00000140396	ENST00000452400	T	0.17054	2.3	5.97	5.05	0.67936	.	0.105696	0.64402	D	0.000004	T	0.06096	0.0158	N	0.01405	-0.89	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.29882	-0.9997	10	0.07175	T	0.84	.	16.0252	0.80538	0.1349:0.8651:0.0:0.0	.	184	Q15596	NCOA2_HUMAN	V	184	ENSP00000399968:G184V	ENSP00000399968:G184V	G	-	2	0	NCOA2	71241534	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.900000	0.63252	2.836000	0.97738	0.655000	0.94253	GGA		0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			48	187	1	0	2.52991e-16	0.00361	3.91694e-16	48	187				
JPH1	56704	broad.mit.edu	37	8	75227264	75227264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:75227264C>A	ENST00000342232.4	-	2	1011	c.971G>T	c.(970-972)gGc>gTc	p.G324V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	324					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCTTTGGAGCCGTCAGGAAA	0.463																																							uc003yae.2		NA																	0				ovary(1)	1						c.(970-972)GGC>GTC		junctophilin 1							119.0	119.0	119.0					8																	75227264		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227264C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.971G>T	8.37:g.75227264C>A	ENSP00000344488:p.Gly324Val					JPH1_uc003yaf.2_Missense_Mutation_p.G324V|JPH1_uc003yag.1_Missense_Mutation_p.G188V	p.G324V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1011	-	Breast(64;0.00576)		324			Cytoplasmic (Potential).|MORN 7.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.971G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408782	0.83340	.	.	ENSG00000104369	ENST00000342232	T	0.80033	-1.33	5.31	5.31	0.75309	.	0.099330	0.64402	D	0.000001	D	0.92087	0.7492	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93341	0.6710	10	0.87932	D	0	.	19.1608	0.93531	0.0:1.0:0.0:0.0	.	324	Q9HDC5	JPH1_HUMAN	V	324	ENSP00000344488:G324V	ENSP00000344488:G324V	G	-	2	0	JPH1	75389819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.749000	0.94314	0.655000	0.94253	GGC		0.463	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			50	142	1	0	1.19451e-25	0.00361	2.01041e-25	50	142				
ZFHX4	79776	broad.mit.edu	37	8	77690524	77690524	+	Silent	SNP	C	C	A	rs370547889		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77690524C>A	ENST00000521891.2	+	4	3622	c.3174C>A	c.(3172-3174)gtC>gtA	p.V1058V	ZFHX4_ENST00000050961.6_Silent_p.V1032V|ZFHX4_ENST00000455469.2_Silent_p.V1032V|ZFHX4_ENST00000518282.1_Silent_p.V1032V|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1032					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)			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)			CCACCAAGGTCAAGTTGAATC	0.542										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3094-3096)GTC>GTA		zinc finger homeodomain 4							156.0	160.0	158.0					8																	77690524		2051	4190	6241	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690524C>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.3174C>A	8.37:g.77690524C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.V1058V|ZFHX4_uc003yaw.1_Silent_p.V1032V	p.V1032V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3483	+			1032			C2H2-type 7.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3096C>A	CCDS47878.2																																																																																				0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		40	119	1	0	3.3946e-10	0.005524	4.67921e-10	40	119				
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77768313G>A	ENST00000521891.2	+	10	9604	c.9156G>A	c.(9154-9156)ccG>ccA	p.P3052P	ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	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.P3036P(2)		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)			ACTTGGCTCCGACCACGGTTC	0.507										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9019-9021)CCG>CCA		zinc finger homeodomain 4							102.0	102.0	102.0					8																	77768313		2006	4172	6178	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768313G>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.9156G>A	8.37:g.77768313G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P3052P|ZFHX4_uc003yaw.1_Silent_p.P3007P	p.P3007P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9408	+			3007					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9021G>A	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	109	0	0	0	0.008291	0	10	109				
STMN2	11075	broad.mit.edu	37	8	80577088	80577088	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:80577088C>T	ENST00000220876.7	+	5	901	c.519C>T	c.(517-519)ctC>ctT	p.L173L	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.L162L	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	173	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAAGGAACTCCAGGTTGAAC	0.498																																							uc003ybj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(517-519)CTC>CTT		superiorcervical ganglia, neural specific 10							94.0	99.0	98.0					8																	80577088		1962	4138	6100	SO:0001819	synonymous_variant	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80577088C>T		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.519C>T	8.37:g.80577088C>T						STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA	p.L173L	NM_007029	NP_008960	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		5	570	+	all_lung(9;8.34e-05)		173			Potential.		A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	37	c.519C>T	CCDS43748.1																																																																																				0.498	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		10	34	0	0	0	0.006214	0	10	34				
RBM12B	389677	broad.mit.edu	37	8	94746661	94746661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:94746661T>A	ENST00000399300.2	-	3	2191	c.1978A>T	c.(1978-1980)Agg>Tgg	p.R660W	RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	660							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGAGCCACCTTAAGTCCTCC	0.637																																							uc003yfz.2		NA																	0					0						c.(1978-1980)AGG>TGG		RNA binding motif protein 12B							83.0	86.0	85.0					8																	94746661		1862	4085	5947	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746661T>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1978A>T	8.37:g.94746661T>A	ENSP00000382239:p.Arg660Trp						p.R660W	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2171	-	Breast(36;4.14e-07)		660					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1978A>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112067	0.56398	.	.	ENSG00000183808	ENST00000399300	T	0.09538	2.97	4.63	0.654	0.17833	.	.	.	.	.	T	0.06962	0.0177	L	0.27053	0.805	0.09310	N	0.999991	B	0.13145	0.007	B	0.13407	0.009	T	0.37056	-0.9722	9	0.87932	D	0	.	2.9608	0.05891	0.141:0.0824:0.1464:0.6302	.	660	Q8IXT5	RB12B_HUMAN	W	660	ENSP00000382239:R660W	ENSP00000382239:R660W	R	-	1	2	RBM12B	94815837	0.000000	0.05858	0.008000	0.14137	0.024000	0.10985	-0.425000	0.07017	0.105000	0.17753	0.528000	0.53228	AGG		0.637	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		57	132	0	0	0	0.00361	0	57	132				
DPY19L4	286148	broad.mit.edu	37	8	95802050	95802050	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:95802050C>T	ENST00000414645.2	+	19	2183	c.2084C>T	c.(2083-2085)tCt>tTt	p.S695F	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	695						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTAACTATTCTCCATATGTG	0.313																																							uc003ygx.2		NA																	0				ovary(2)	2						c.(2083-2085)TCT>TTT		dpy-19-like 4							91.0	99.0	96.0					8																	95802050		2203	4296	6499	SO:0001583	missense	286148					integral to membrane		g.chr8:95802050C>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2084C>T	8.37:g.95802050C>T	ENSP00000389630:p.Ser695Phe						p.S695F	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			19	2208	+	Breast(36;3.85e-06)		695					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.2084C>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678890	0.88542	.	.	ENSG00000156162	ENST00000414645	T	0.56444	0.46	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71048	-0.4705	10	0.52906	T	0.07	-22.4922	19.1027	0.93281	0.0:1.0:0.0:0.0	.	695	Q7Z388	D19L4_HUMAN	F	695	ENSP00000389630:S695F	ENSP00000389630:S695F	S	+	2	0	DPY19L4	95871226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.950000	0.75977	2.563000	0.86464	0.563000	0.77884	TCT		0.313	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		26	113	0	0	0	0.004656	0	26	113				
PABPC1	26986	broad.mit.edu	37	8	101718960	101718960	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:101718960G>A	ENST00000318607.5	-	11	2649	c.1521C>T	c.(1519-1521)acC>acT	p.T507T	PABPC1_ENST00000522387.1_Silent_p.T475T|PABPC1_ENST00000519004.1_Silent_p.T462T|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	507					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTGTGGAACGGTGCGGACAG	0.438																																							uc003yjs.1		NA																	0					0						c.(1519-1521)ACC>ACT		poly(A) binding protein, cytoplasmic 1							67.0	63.0	65.0					8																	101718960		2203	4300	6503	SO:0001819	synonymous_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101718960G>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1521C>T	8.37:g.101718960G>A						PABPC1_uc011lhc.1_Silent_p.T475T|PABPC1_uc011lhd.1_Silent_p.T462T|PABPC1_uc003yjt.1_Silent_p.T504T|PABPC1_uc003yju.2_Intron	p.T507T	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		11	2025	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		507					Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.1521C>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172581	0.21704	.	.	ENSG00000070756	ENST00000520868;ENST00000517403	.	.	.	5.4	-2.81	0.05805	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	4	.	.	.	.	1.388	0.02244	0.3834:0.0884:0.2658:0.2624	.	.	.	.	L	40;160	.	.	P	-	2	0	PABPC1	101788136	0.650000	0.27331	0.979000	0.43373	0.973000	0.67179	-0.251000	0.08818	-0.405000	0.07599	-0.150000	0.13652	CCG		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		18	69	0	0	0	0.006122	0	18	69				
PABPC1	26986	broad.mit.edu	37	8	101719186	101719186	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:101719186G>A	ENST00000318607.5	-	10	2504	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	PABPC1_ENST00000522387.1_Missense_Mutation_p.P427L|PABPC1_ENST00000519004.1_Missense_Mutation_p.P414L|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	459					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGTGGTCTAGGAGCAGCTGG	0.413																																							uc003yjs.1		NA																	0					0						c.(1375-1377)CCT>CTT		poly(A) binding protein, cytoplasmic 1							84.0	79.0	81.0					8																	101719186		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719186G>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1376C>T	8.37:g.101719186G>A	ENSP00000313007:p.Pro459Leu					PABPC1_uc011lhc.1_Missense_Mutation_p.P427L|PABPC1_uc011lhd.1_Missense_Mutation_p.P414L|PABPC1_uc003yjt.1_Missense_Mutation_p.P456L|PABPC1_uc003yju.2_Intron	p.P459L	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		10	1880	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		459					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1376C>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140621	0.94560	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	T;T;T;T	0.50813	1.52;1.41;2.45;0.73	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000004	T	0.55657	0.1934	M	0.84326	2.69	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.003;0.006;0.003	T	0.53085	-0.8488	9	.	.	.	.	20.0338	0.97549	0.0:0.0:1.0:0.0	.	427;459;459	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	L	459;414;427;6	ENSP00000313007:P459L;ENSP00000429594:P414L;ENSP00000429395:P427L;ENSP00000428840:P6L	.	P	-	2	0	PABPC1	101788362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.122000	0.94380	2.816000	0.96949	0.650000	0.86243	CCT		0.413	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		9	59	0	0	0	0.006214	0	9	59				
SLC25A32	81034	broad.mit.edu	37	8	104427550	104427550	+	5'Flank	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:104427550G>T	ENST00000297578.4	-	0	0				SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Missense_Mutation_p.R111L|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CCAGCAGGCCGCCGCTCCGCG	0.637																																							uc003yln.2		NA																	0				breast(1)	1						c.(331-333)CGC>CTC		WD repeats and SOF1 domain containing							32.0	41.0	38.0					8																	104427550		2196	4291	6487	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427550G>T	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427550G>T	Exception_encountered					SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	p.R111L	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			1	609	+			Error:Variant_position_missing_in_Q9NV06_after_alignment					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.332G>T	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	8.095	0.775341	0.16051	.	.	ENSG00000164934	ENST00000297579	T	0.77098	-1.07	4.55	-8.26	0.01021	.	3.024560	0.01916	N	0.040185	T	0.69333	0.3099	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.62918	-0.6752	7	0.42905	T	0.14	6.2885	9.1454	0.36930	0.0:0.1982:0.528:0.2738	.	.	.	.	L	111	ENSP00000297579:R111L	ENSP00000297579:R111L	R	+	2	0	DCAF13	104496726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.334000	0.07883	-1.543000	0.01723	-3.814000	0.00019	CGC		0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		22	53	1	0	1.50039e-11	0.001882	2.13855e-11	22	53				
ZFPM2	23414	broad.mit.edu	37	8	106456569	106456569	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:106456569G>T	ENST00000407775.2	+	3	511	c.261G>T	c.(259-261)ccG>ccT	p.P87P	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	87					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGAAACCGGGGCAACCTG	0.443																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(259-261)CCG>CCT		zinc finger protein, multitype 2							76.0	81.0	79.0					8																	106456569		1929	4145	6074	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456569G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.261G>T	8.37:g.106456569G>T							p.P87P	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	284	+			87					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.261G>T	CCDS47908.1																																																																																				0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	20	1	0	0.000157383	0.00308	0.000177645	7	20				
TMEM74	157753	broad.mit.edu	37	8	109796746	109796746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:109796746G>C	ENST00000297459.3	-	2	760	c.582C>G	c.(580-582)atC>atG	p.I194M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	194					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CGATGTAAGAGATGATCACGA	0.552																																							uc003ymy.1		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(580-582)ATC>ATG		transmembrane protein 74							97.0	86.0	90.0					8																	109796746		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796746G>C	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.582C>G	8.37:g.109796746G>C	ENSP00000297459:p.Ile194Met					TMEM74_uc003ymx.2_Intron	p.I194M	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	687	-			194			Helical; (Potential).			Missense_Mutation	SNP	ENST00000297459.3	37	c.582C>G	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680636	0.47886	.	.	ENSG00000164841	ENST00000297459	T	0.18960	2.18	5.42	0.761	0.18448	.	0.053199	0.64402	D	0.000001	T	0.32882	0.0844	M	0.62723	1.935	0.47547	D	0.999457	D	0.76494	0.999	D	0.63793	0.918	T	0.04678	-1.0934	10	0.72032	D	0.01	-14.9444	4.9663	0.14093	0.5793:0.0:0.2675:0.1533	.	194	Q96NL1	TMM74_HUMAN	M	194	ENSP00000297459:I194M	ENSP00000297459:I194M	I	-	3	3	TMEM74	109865922	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	0.823000	0.27366	-0.049000	0.13379	0.650000	0.86243	ATC		0.552	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		24	60	0	0	0	0.00278	0	24	60				
CSMD3	114788	broad.mit.edu	37	8	113293524	113293524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:113293524A>T	ENST00000297405.5	-	59	9631	c.9387T>A	c.(9385-9387)gaT>gaA	p.D3129E	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2960E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3059E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3089E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3129	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTTGTGCCATCAATTCGGA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9385-9387)GAT>GAA		CUB and Sushi multiple domains 3 isoform 1							121.0	105.0	110.0					8																	113293524		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293524A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9387T>A	8.37:g.113293524A>T	ENSP00000297405:p.Asp3129Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D2331E|CSMD3_uc003ynt.2_Missense_Mutation_p.D3089E|CSMD3_uc011lhx.1_Missense_Mutation_p.D2960E	p.D3129E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9546	-			3129			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9387T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687174	0.68157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.72	3.36	0.38483	Complement control module (2);Sushi/SCR/CCP (3);	0.065417	0.64402	D	0.000016	T	0.65133	0.2662	L	0.40543	1.245	0.42346	D	0.992357	P;P;P	0.47545	0.874;0.897;0.865	P;P;P	0.59487	0.726;0.858;0.689	T	0.59606	-0.7423	10	0.32370	T	0.25	.	9.8816	0.41236	0.8623:0.0:0.1377:0.0	.	2960;3129;3089	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	3089;3129;2399;2960;3059	ENSP00000345799:D3089E;ENSP00000297405:D3129E;ENSP00000341558:D2399E;ENSP00000412263:D2960E;ENSP00000343124:D3059E	ENSP00000297405:D3129E	D	-	3	2	CSMD3	113362700	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	3.805000	0.55575	0.452000	0.26830	-0.263000	0.10527	GAT		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	54	0	0	0	0.000978	0	11	54				
CSMD3	114788	broad.mit.edu	37	8	113650925	113650925	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:113650925C>A	ENST00000297405.5	-	21	3770	c.3526G>T	c.(3526-3528)Gaa>Taa	p.E1176*	CSMD3_ENST00000455883.2_Splice_Site_p.E1072*|CSMD3_ENST00000352409.3_Splice_Site_p.E1176*|CSMD3_ENST00000343508.3_Splice_Site_p.E1136*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1176	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTCTCACCAGAGAATGTT	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3526-3528)GAA>TAA		CUB and Sushi multiple domains 3 isoform 1							33.0	36.0	35.0					8																	113650925		2201	4300	6501	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113650925C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3526+1G>T	8.37:g.113650925C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.E448*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E1136*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E1072*	p.E1176*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3685	-			1176			Extracellular (Potential).|CUB 6.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.3526G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	45	11.621306	0.99583	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4581	0.90728	0.0:1.0:0.0:0.0	.	.	.	.	X	1136;1176;516;1072;1176	.	.	E	-	1	0	CSMD3	113720101	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.750000	0.85110	2.448000	0.82819	0.491000	0.48974	GAA		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Nonsense_Mutation	9	32	1	0	0.000274275	0.004482	0.000303231	9	32				
TRPS1	7227	broad.mit.edu	37	8	116616407	116616407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:116616407G>T	ENST00000220888.5	-	3	1909	c.1750C>A	c.(1750-1752)Ccg>Acg	p.P584T	TRPS1_ENST00000395715.3_Missense_Mutation_p.P597T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.P588T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	584					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGCAAACGGATAAGTAATT	0.468									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1750-1752)CCG>ACG		zinc finger transcription factor TRPS1							69.0	69.0	69.0					8																	116616407		1917	4137	6054	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616407G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1750C>A	8.37:g.116616407G>T	ENSP00000220888:p.Pro584Thr					TRPS1_uc011lhy.1_Missense_Mutation_p.P588T|TRPS1_uc003yny.2_Missense_Mutation_p.P597T|TRPS1_uc010mcy.2_Missense_Mutation_p.P584T	p.P584T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2209	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		584					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1750C>A		.	.	.	.	.	.	.	.	.	.	G	16.54	3.151227	0.57151	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	L	0.27053	0.805	0.47659	D	0.999489	D;D;D	0.71674	0.998;0.997;0.998	D;P;D	0.66351	0.943;0.879;0.943	T	0.60105	-0.7328	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	588;584;597	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	T	597;584;588;584	ENSP00000379065:P597T;ENSP00000220888:P584T;ENSP00000428680:P588T;ENSP00000429174:P584T	ENSP00000220888:P584T	P	-	1	0	TRPS1	116685582	1.000000	0.71417	0.820000	0.32676	0.953000	0.61014	8.515000	0.90548	2.941000	0.99782	0.655000	0.94253	CCG		0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	44	1	0	2.7689e-08	0.001984	3.63087e-08	7	44				
NOV	4856	broad.mit.edu	37	8	120435290	120435290	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:120435290G>T	ENST00000259526.3	+	5	1219	c.992G>T	c.(991-993)tGc>tTc	p.C331F	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			ATTGGGACCTGCACCTGTCAC	0.527																																							uc003yoq.2		NA																	0				ovary(2)|skin(2)|kidney(1)	5						c.(991-993)TGC>TTC		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						187.0	171.0	177.0					8																	120435290		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435290G>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.992G>T	8.37:g.120435290G>T	ENSP00000259526:p.Cys331Phe						p.C331F	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1213	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		331			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.992G>T	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734075	0.89482	.	.	ENSG00000136999	ENST00000259526	D	0.98280	-4.84	5.72	5.72	0.89469	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99552	1.0966	10	0.87932	D	0	-17.1985	19.8713	0.96852	0.0:0.0:1.0:0.0	.	331	P48745	NOV_HUMAN	F	331	ENSP00000259526:C331F	ENSP00000259526:C331F	C	+	2	0	NOV	120504471	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.701000	0.92244	0.557000	0.71058	TGC		0.527	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		18	222	1	0	2.4624e-09	0.008871	3.30953e-09	18	222				
ENPP2	5168	broad.mit.edu	37	8	120629471	120629471	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:120629471G>A	ENST00000075322.6	-	7	648	c.590C>T	c.(589-591)aCa>aTa	p.T197I	ENPP2_ENST00000522826.1_Missense_Mutation_p.T197I|ENPP2_ENST00000259486.6_Missense_Mutation_p.T197I|ENPP2_ENST00000427067.2_Missense_Mutation_p.T193I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	197					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGGAGAGTGTGTGCCACAAGA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(589-591)ACA>ATA		autotaxin isoform 2 preproprotein							69.0	68.0	68.0					8																	120629471		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629471G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.590C>T	8.37:g.120629471G>A	ENSP00000075322:p.Thr197Ile					ENPP2_uc003yos.1_Missense_Mutation_p.T197I|ENPP2_uc010mdd.1_Missense_Mutation_p.T197I	p.T197I	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	676	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		197					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.590C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280529	0.80692	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.81	5.81	0.92471	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	L	0.45470	1.425	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.984;0.996;0.999	T	0.76924	-0.2779	10	0.33141	T	0.24	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	197;197;197	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	I	197;193;197;197;179	ENSP00000259486:T197I;ENSP00000403315:T193I;ENSP00000428291:T197I;ENSP00000075322:T197I;ENSP00000428304:T179I	ENSP00000075322:T197I	T	-	2	0	ENPP2	120698652	1.000000	0.71417	0.993000	0.49108	0.786000	0.44442	7.982000	0.88131	2.747000	0.94245	0.650000	0.86243	ACA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			16	66	0	0	0	0.007413	0	16	66				
ZNF572	137209	broad.mit.edu	37	8	125988734	125988735	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:125988734_125988735GG>AT	ENST00000319286.5	+	3	378_379	c.224_225GG>AT	c.(223-225)tGG>tAT	p.W75Y		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCACTGACATGGGTTCAAGATG	0.386										HNSCC(60;0.17)																													uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(223-225)TGG>TAT		zinc finger protein 572																																				SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988734_125988735GG>AT	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	Exception_encountered	8.37:g.125988734_125988735delinsAT	ENSP00000319305:p.Trp75Tyr	HNSCC(60;0.17)					p.W75Y	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	379_380	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		75					A1L4F1|Q8N1Q0	Missense_Mutation	DNP	ENST00000319286.5	37	c.224_225GG>AT	CCDS6354.1																																																																																				0.386	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		22	70	0	0	0	0.004672	0	22	70				
KIAA0196	9897	broad.mit.edu	37	8	126071510	126071510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:126071510C>A	ENST00000318410.7	-	14	2067	c.1718G>T	c.(1717-1719)aGg>aTg	p.R573M	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R425M	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	573					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGATTTACCCTTATGCTTTC	0.408																																							uc003yrt.2		NA																	0				ovary(2)	2						c.(1717-1719)AGG>ATG		strumpellin							151.0	140.0	144.0					8																	126071510		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126071510C>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1718G>T	8.37:g.126071510C>A	ENSP00000318016:p.Arg573Met					KIAA0196_uc011lir.1_Missense_Mutation_p.R425M|KIAA0196_uc003yru.1_Missense_Mutation_p.R147M	p.R573M	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		14	2047	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		573					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.1718G>T	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.372313|4.372313	0.82573|0.82573	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.87571	.|-2.27;-2.27	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92149|0.92149	0.7511|0.7511	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.61697	.|0.989;0.99	.|P;D	.|0.64237	.|0.87;0.923	D|D	0.92206|0.92206	0.5772|0.5772	5|10	.|0.87932	.|D	.|0	-16.7227|-16.7227	20.1271|20.1271	0.97986|0.97986	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|425;573	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	W|M	190|573;425	.|ENSP00000318016:R573M;ENSP00000429676:R425M	.|ENSP00000318016:R573M	G|R	-|-	1|2	0|0	KIAA0196|KIAA0196	126140692|126140692	1.000000|1.000000	0.71417|0.71417	0.578000|0.578000	0.28575|0.28575	0.921000|0.921000	0.55340|0.55340	4.017000|4.017000	0.57167|0.57167	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		12	71	1	0	1.5842e-08	0.001855	2.09192e-08	12	71				
TG	7038	broad.mit.edu	37	8	133894758	133894759	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:133894758_133894759GG>TC	ENST00000220616.4	+	7	830_831	c.790_791GG>TC	c.(790-792)GGc>TCc	p.G264S	TG_ENST00000377869.1_Missense_Mutation_p.G264S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATTTTTGCTGGCCTGGACCTT	0.475																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(790-792)GGC>TCC		thyroglobulin precursor																																				SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133894758_133894759GG>TC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	Exception_encountered	8.37:g.133894758_133894759delinsTC	ENSP00000220616:p.Gly264Ser						p.G264S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	7	831_832	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	264			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	DNP	ENST00000220616.4	37	c.790_791GG>TC	CCDS34944.1																																																																																				0.475	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		56	217	0	0	0	0.004672	0	56	217				
TG	7038	broad.mit.edu	37	8	133906086	133906086	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:133906086C>G	ENST00000220616.4	+	11	2953	c.2913C>G	c.(2911-2913)ggC>ggG	p.G971G	TG_ENST00000377869.1_Silent_p.G971G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	971	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGACCTCGGCCTTCCTCCGC	0.592																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2911-2913)GGC>GGG		thyroglobulin precursor							99.0	93.0	95.0					8																	133906086		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133906086C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2913C>G	8.37:g.133906086C>G							p.G971G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2954	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	971			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2913C>G	CCDS34944.1																																																																																				0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		30	76	0	0	0	0.009535	0	30	76				
FAM135B	51059	broad.mit.edu	37	8	139155262	139155262	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:139155262G>T	ENST00000395297.1	-	16	3801	c.3631C>A	c.(3631-3633)Cga>Aga	p.R1211R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTAATTCGGGATATGGAG	0.398										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3631-3633)CGA>AGA		hypothetical protein LOC51059							110.0	106.0	107.0					8																	139155262		1888	4109	5997	SO:0001819	synonymous_variant	51059							g.chr8:139155262G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3631C>A	8.37:g.139155262G>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.R1112R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.R773R|FAM135B_uc003yvb.2_3'UTR	p.R1211R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		16	3802	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1211					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3631C>A	CCDS6375.2																																																																																				0.398	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	53	1	0	2.27111e-07	0.001368	2.87801e-07	12	53				
COL22A1	169044	broad.mit.edu	37	8	139601675	139601675	+	Missense_Mutation	SNP	C	C	G	rs368533920		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:139601675C>G	ENST00000303045.6	-	65	5148	c.4702G>C	c.(4702-4704)Ggg>Cgg	p.G1568R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTTCCCCGGGTTGACCT	0.577										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4702-4704)GGG>CGG		collagen, type XXII, alpha 1							37.0	33.0	34.0					8																	139601675		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601675C>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4702G>C	8.37:g.139601675C>G	ENSP00000303153:p.Gly1568Arg	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G848R	p.G1568R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5149	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1568			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4702G>C	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547690	0.65311	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	D	0.99760	0.9903	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	1548;1568	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1568;1548;1261	ENSP00000303153:G1568R;ENSP00000387655:G1548R	ENSP00000303153:G1568R	G	-	1	0	COL22A1	139670857	1.000000	0.71417	0.990000	0.47175	0.736000	0.42039	7.252000	0.78309	2.752000	0.94435	0.655000	0.94253	GGG		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	12	0	0	0	0.00308	0	8	12				
CYP11B1	1584	broad.mit.edu	37	8	143956473	143956473	+	Missense_Mutation	SNP	C	C	G	rs542739915		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:143956473C>G	ENST00000292427.4	-	8	1330	c.1298G>C	c.(1297-1299)gGc>gCc	p.G433A	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504A|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	433					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGCCGGAGCCCCTGATGTC	0.632									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	0				ovary(3)	3						c.(1297-1299)GGC>GCC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						80.0	88.0	85.0					8																	143956473		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956473C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1298G>C	8.37:g.143956473C>G	ENSP00000292427:p.Gly433Ala					CYP11B1_uc010mex.2_Missense_Mutation_p.G132A|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.G504A	p.G433A	NM_000497	NP_000488	P15538	C11B1_HUMAN			8	1305	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		433					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1298G>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.539610	0.27563	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.70282	-0.47;-0.47;-0.47	4.22	-7.2	0.01495	.	1.246760	0.05885	N	0.627227	T	0.51483	0.1677	L	0.28192	0.835	0.09310	N	1	B;B;B	0.18166	0.026;0.009;0.007	B;B;B	0.23574	0.047;0.015;0.015	T	0.38112	-0.9676	10	0.18710	T	0.47	.	8.5368	0.33368	0.0:0.1307:0.2307:0.6386	.	504;433;433	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	A	111;433;504	ENSP00000430144:G111A;ENSP00000292427:G433A;ENSP00000366903:G504A	ENSP00000292427:G433A	G	-	2	0	CYP11B1	143953475	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.901000	0.04093	-1.526000	0.01760	0.561000	0.74099	GGC		0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			27	90	0	0	0	0.007291	0	27	90				
CYP11B1	1584	broad.mit.edu	37	8	143958141	143958141	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:143958141C>T	ENST00000292427.4	-	4	788	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CYP11B1_ENST00000377675.3_Silent_p.V323V|CYP11B1_ENST00000517471.1_Silent_p.V252V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	252					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCTCCTTCCACACCTTGGGGC	0.602									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	0				ovary(3)	3						c.(754-756)GTG>GTA		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						45.0	40.0	41.0					8																	143958141		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958141C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.756G>A	8.37:g.143958141C>T						CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Silent_p.V252V|CYP11B1_uc010mey.2_Silent_p.V323V	p.V252V	NM_000497	NP_000488	P15538	C11B1_HUMAN			4	763	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		252					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.756G>A	CCDS6392.1																																																																																				0.602	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			4	38	0	0	0	0.009096	0	4	38				
PTPRD	5789	broad.mit.edu	37	9	8340382	8340382	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:8340382G>T	ENST00000381196.4	-	39	5757	c.5214C>A	c.(5212-5214)acC>acA	p.T1738T	PTPRD_ENST00000397606.3_Silent_p.T1331T|PTPRD_ENST00000355233.5_Silent_p.T1332T|PTPRD_ENST00000358503.5_Silent_p.T1716T|PTPRD_ENST00000540109.1_Silent_p.T1738T|PTPRD_ENST00000537002.1_Silent_p.T1328T|PTPRD_ENST00000397617.3_Silent_p.T1331T|PTPRD_ENST00000397611.3_Silent_p.T1328T|PTPRD_ENST00000356435.5_Silent_p.T1738T|PTPRD_ENST00000486161.1_Silent_p.T1331T|PTPRD_ENST00000360074.4_Silent_p.T1725T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1738	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACAACTATGGTGGAATTGT	0.498										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5212-5214)ACC>ACA		protein tyrosine phosphatase, receptor type, D							136.0	112.0	120.0					9																	8340382		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340382G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5214C>A	9.37:g.8340382G>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.T1332T|PTPRD_uc003zkq.2_Silent_p.T1331T|PTPRD_uc003zkr.2_Silent_p.T1322T|PTPRD_uc003zks.2_Silent_p.T1331T|PTPRD_uc003zkl.2_Silent_p.T1729T|PTPRD_uc003zkm.2_Silent_p.T1725T|PTPRD_uc003zkn.2_Silent_p.T1327T|PTPRD_uc003zko.2_Silent_p.T1328T	p.T1738T	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5925	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1738			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5214C>A	CCDS43786.1																																																																																				0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	36	1	0	0.00198382	0.001984	0.0021157	7	36				
PTPRD	5789	broad.mit.edu	37	9	8518250	8518250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:8518250C>A	ENST00000381196.4	-	18	1684	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTAGTCCAGCGACACTGTAG	0.468										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1141-1143)GCT>TCT		protein tyrosine phosphatase, receptor type, D							141.0	143.0	142.0					9																	8518250		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518250C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1141G>T	9.37:g.8518250C>A	ENSP00000370593:p.Ala381Ser	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.A381S|PTPRD_uc003zkq.2_Missense_Mutation_p.A381S|PTPRD_uc003zkr.2_Missense_Mutation_p.A375S|PTPRD_uc003zks.2_Missense_Mutation_p.A371S|PTPRD_uc003zkl.2_Missense_Mutation_p.A381S|PTPRD_uc003zkm.2_Missense_Mutation_p.A368S|PTPRD_uc003zkn.2_Missense_Mutation_p.A381S|PTPRD_uc003zko.2_Missense_Mutation_p.A378S	p.A381S	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	1852	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	381			Fibronectin type-III 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1141G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021096	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055458	0.64402	D	0.000001	T	0.37972	0.1023	N	0.02120	-0.675	0.58432	D	0.999998	B;B;B;B;B;B;B;P;B	0.46912	0.386;0.102;0.044;0.073;0.005;0.084;0.382;0.886;0.436	B;B;B;B;B;B;B;P;B	0.50490	0.239;0.168;0.053;0.083;0.03;0.068;0.189;0.642;0.168	T	0.46884	-0.9159	9	.	.	.	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	371;375;381;381;378;378;368;381;381	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	381;381;368;368;381;371;378;378;381;381;381;371	ENSP00000370593:A381S;ENSP00000348812:A381S;ENSP00000353187:A368S;ENSP00000351293:A368S;ENSP00000347373:A381S;ENSP00000380741:A371S;ENSP00000380735:A378S;ENSP00000440515:A378S;ENSP00000438164:A381S;ENSP00000417093:A381S;ENSP00000380731:A371S	.	A	-	1	0	PTPRD	8508250	1.000000	0.71417	0.967000	0.41034	0.229000	0.25112	7.770000	0.85390	2.392000	0.81423	0.460000	0.39030	GCT		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			27	88	1	0	6.32553e-13	0.004656	9.24312e-13	27	88				
CER1	9350	broad.mit.edu	37	9	14722195	14722195	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:14722195C>A	ENST00000380911.3	-	1	520	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	159					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCAGGTCTCCCAATGTACTTC	0.527																																							uc003zlj.2		NA																	0					0						c.(475-477)TGG>TTG		cerberus 1 precursor							91.0	85.0	87.0					9																	14722195		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14722195C>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.476G>T	9.37:g.14722195C>A	ENSP00000370297:p.Trp159Leu						p.W159L	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	1	521	-			159					Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.476G>T	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084733	0.36758	.	.	ENSG00000147869	ENST00000380911	T	0.28255	1.62	5.1	-1.02	0.10135	DAN (1);	0.439260	0.21869	N	0.067910	T	0.20700	0.0498	L	0.44542	1.39	0.26234	N	0.978968	B	0.28820	0.224	B	0.31495	0.131	T	0.29549	-1.0008	10	0.14656	T	0.56	-0.4276	8.4981	0.33141	0.0:0.3633:0.0:0.6367	.	159	O95813	CER1_HUMAN	L	159	ENSP00000370297:W159L	ENSP00000370297:W159L	W	-	2	0	CER1	14712195	0.798000	0.28890	0.967000	0.41034	0.988000	0.76386	0.125000	0.15749	-0.062000	0.13088	0.655000	0.94253	TGG		0.527	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		15	46	1	0	0.000422831	0.004007	0.000466104	15	46				
BNC2	54796	broad.mit.edu	37	9	16419146	16419146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:16419146C>A	ENST00000380672.4	-	7	3198	c.3141G>T	c.(3139-3141)aaG>aaT	p.K1047N	BNC2_ENST00000545497.1_Missense_Mutation_p.K952N|BNC2_ENST00000380667.2_Missense_Mutation_p.K980N	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGGTCCCCTTGTTGCTGT	0.468																																							uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3139-3141)AAG>AAT		basonuclin 2							104.0	83.0	90.0					9																	16419146		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419146C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3141G>T	9.37:g.16419146C>A	ENSP00000370047:p.Lys1047Asn					BNC2_uc011lmw.1_Missense_Mutation_p.K952N|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.K834N	p.K1047N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3281	-			1047			C2H2-type 3.			Missense_Mutation	SNP	ENST00000380672.4	37	c.3141G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557683	0.45590	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.54071	0.59;0.59;0.59	6.08	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.73319	2.225	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.996	T	0.72491	-0.4277	10	0.62326	D	0.03	-23.7547	11.6104	0.51055	0.0:0.864:0.0:0.136	.	952;1047;812	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	N	1047;980;952	ENSP00000370047:K1047N;ENSP00000370042:K980N;ENSP00000444640:K952N	ENSP00000370042:K980N	K	-	3	2	BNC2	16409146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.586000	0.49944	0.591000	0.81541	AAG		0.468	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		15	45	1	0	6.31663e-08	0.003163	8.21161e-08	15	45				
IFNB1	3456	broad.mit.edu	37	9	21077402	21077402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:21077402G>T	ENST00000380232.2	-	1	541	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	156					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GTACTCCTTGGCCTTCAGGTA	0.433																																							uc003zok.2		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(466-468)GCC>GAC		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						176.0	173.0	174.0					9																	21077402		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077402G>T		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.467C>A	9.37:g.21077402G>T	ENSP00000369581:p.Ala156Asp						p.A156D	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	542	-			156					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.467C>A	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	G	6.243	0.413023	0.11812	.	.	ENSG00000171855	ENST00000380232	T	0.15952	2.38	5.45	-2.42	0.06542	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.808530	0.11446	N	0.563291	T	0.09686	0.0238	N	0.26130	0.795	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.31558	-0.9939	10	0.87932	D	0	-0.0685	3.9614	0.09412	0.0743:0.3219:0.1974:0.4063	.	156	P01574	IFNB_HUMAN	D	156	ENSP00000369581:A156D	ENSP00000369581:A156D	A	-	2	0	IFNB1	21067402	0.001000	0.12720	0.009000	0.14445	0.931000	0.56810	0.099000	0.15210	-0.070000	0.12908	0.650000	0.86243	GCC		0.433	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		40	134	1	0	2.59497e-14	0.007835	3.88988e-14	40	134				
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:21971108C>T	ENST00000304494.5	-	2	520	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R98Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822). {ECO:0000269|PubMed:10874641}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		CGGGCAGCGTCGTGCACGGGT	0.741	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2	D84Y(LK2_LUNG)|D84Y(DU145_PROSTATE)	17																	1396	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(23)|Deletion - Frameshift(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84G(2)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(170)|lung(154)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(54)|upper_aerodigestive_tract(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(15)|thyroid(13)|NS(12)|stomach(12)|prostate(11)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|genital_tract(1)	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	CM085316|CM990358	CDKN2A	M	rs11552822	c.(250-252)GAC>AAC		cyclin-dependent kinase inhibitor 2A isoform 1							13.0	16.0	15.0					9																	21971108		2178	4258	6436	SO:0001583	missense	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.chr9:21971108C>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.250G>A	9.37:g.21971108C>T	ENSP00000307101:p.Asp84Asn	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R139Q	p.D84N	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	462	-		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)	84		D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.250G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.337227|5.337227	0.95758|0.95758	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93906|0.83992	-3.31;-3.31|-1.79;-1.71	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.87744|0.87744	0.6254|0.6254	L|L	0.32530|0.32530	0.975|0.975	0.45261|0.45261	D|D	0.998263|0.998263	D|D	0.89917|0.89917	1.0|1.0	D|D	0.83275|0.87578	0.996|0.998	D|D	0.88398|0.88398	0.3013|0.3013	9|10	0.27785|0.87932	T|D	0.31|0	-18.6892|-18.6892	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	84|139	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	N|Q	84|139;98	ENSP00000307101:D84N;ENSP00000394932:D84N|ENSP00000355153:R139Q;ENSP00000432664:R98Q	ENSP00000307101:D84N|ENSP00000355153:R139Q	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961108|21961108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.879000|6.879000	0.75572|0.75572	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	16	0	0	0	0.001168	0	5	16				
C9orf72	203228	broad.mit.edu	37	9	27562475	27562475	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:27562475C>A	ENST00000380003.3	-	4	568		c.e4-1		C9orf72_ENST00000488117.1_Splice_Site|C9orf72_ENST00000379997.3_Splice_Site	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TACTCTGACCCTGCACAATAA	0.333																																							uc003zqq.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.e4-1		hypothetical protein LOC203228 isoform a							75.0	74.0	74.0					9																	27562475		2203	4297	6500	SO:0001630	splice_region_variant	203228							g.chr9:27562475C>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.505-1G>T	9.37:g.27562475C>A						C9orf72_uc003zqr.1_Splice_Site_p.G169_splice	p.G169_splice	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	4	602	-		all_neural(11;7.57e-10)						A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Splice_Site	SNP	ENST00000380003.3	37	c.505_splice	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305659	0.60305	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9869	0.97352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9orf72	27552475	1.000000	0.71417	0.998000	0.56505	0.578000	0.36192	7.148000	0.77389	2.708000	0.92522	0.650000	0.86243	.		0.333	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	Intron	9	33	1	0	0.000442599	0.006214	0.000486472	9	33				
TAF1L	138474	broad.mit.edu	37	9	32632712	32632712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:32632712C>A	ENST00000242310.4	-	1	2955	c.2866G>T	c.(2866-2868)Gcc>Tcc	p.A956S	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	956					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)			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)		GCAATGAAGGCCCTTGTGGTG	0.478																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2866-2868)GCC>TCC		TBP-associated factor RNA polymerase 1-like							153.0	140.0	144.0					9																	32632712		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.chr9:32632712C>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.2866G>T	9.37:g.32632712C>A	ENSP00000418379:p.Ala956Ser					uc003zrh.1_5'Flank	p.A956S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2956	-			956					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2866G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850391	0.51270	.	.	ENSG00000122728	ENST00000242310	T	0.15603	2.41	1.04	-1.56	0.08532	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.60455	1.87	0.54753	D	0.999983	P	0.38370	0.628	P	0.48227	0.571	T	0.03335	-1.1047	10	0.38643	T	0.18	.	5.617	0.17436	0.3172:0.6828:0.0:0.0	.	956	Q8IZX4	TAF1L_HUMAN	S	956	ENSP00000418379:A956S	ENSP00000418379:A956S	A	-	1	0	TAF1L	32622712	1.000000	0.71417	0.989000	0.46669	0.894000	0.52154	4.971000	0.63749	-0.610000	0.05716	0.195000	0.17529	GCC		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			18	132	1	0	4.75885e-15	0.00499	7.21966e-15	18	132				
VCP	7415	broad.mit.edu	37	9	35059077	35059077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:35059077G>A	ENST00000358901.6	-	15	3039	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	715					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGGGTTTGTCTGCCTCTC	0.547																																							uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2143-2145)ACA>ATA		valosin-containing protein							155.0	125.0	135.0					9																	35059077		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059077G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2144C>T	9.37:g.35059077G>A	ENSP00000351777:p.Thr715Ile					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.T384I|VCP_uc010mki.1_Missense_Mutation_p.T670I	p.T715I	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		15	2533	-			715					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.2144C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063673	0.55432	.	.	ENSG00000165280	ENST00000358901	D	0.94457	-3.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	D	0.84016	0.0351	10	0.39692	T	0.17	-14.3162	19.9103	0.97024	0.0:0.0:1.0:0.0	.	715	P55072	TERA_HUMAN	I	715	ENSP00000351777:T715I	ENSP00000351777:T715I	T	-	2	0	VCP	35049077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.618000	0.67722	2.712000	0.92718	0.407000	0.27541	ACA		0.547	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		13	99	0	0	0	0.00245	0	13	99				
SPATA31A6	389730	broad.mit.edu	37	9	43626729	43626729	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:43626729T>A	ENST00000332857.6	-	4	1986	c.1958A>T	c.(1957-1959)cAg>cTg	p.Q653L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	653					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCACCTTCTGTGCCTCCTT	0.557																																							uc011lrb.1		NA																	0					0						c.(1957-1959)CAG>CTG		hypothetical protein LOC389730							3.0	3.0	3.0					9																	43626729		425	1145	1570	SO:0001583	missense	389730					integral to membrane		g.chr9:43626729T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1958A>T	9.37:g.43626729T>A	ENSP00000329825:p.Gln653Leu						p.Q653L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1987	-			653						Missense_Mutation	SNP	ENST00000332857.6	37	c.1958A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027416	0.35797	.	.	ENSG00000185775	ENST00000332857	T	0.09630	2.96	2.44	2.44	0.29823	.	0.968010	0.08468	N	0.941489	T	0.28797	0.0714	M	0.71206	2.165	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.07731	-1.0757	10	0.56958	D	0.05	-11.2837	6.9206	0.24385	0.0:0.0:0.0:1.0	.	653	Q5VVP1	F75A6_HUMAN	L	653	ENSP00000329825:Q653L	ENSP00000329825:Q653L	Q	-	2	0	FAM75A6	43566725	0.649000	0.27322	0.013000	0.15412	0.014000	0.08584	0.467000	0.22035	1.391000	0.46566	0.315000	0.21342	CAG		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		29	77	0	0	0	0.003271	0	29	77				
Unknown	0	broad.mit.edu	37	9	69440145	69440145	+	IGR	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:69440145G>T								ANKRD20A4 (14585 upstream) : AL445665.2 (147232 downstream)																							ACAGCAATGTGAAAAACTTGA	0.294																																							uc010mnx.1		NA																	0					NA						c.(229-231)GAA>TAA		coiled-coil domain containing 29							15.0	19.0	18.0					9																	69440145		1729	3914	5643	SO:0001628	intergenic_variant	0							g.chr9:69440145G>T																													9.37:g.69440145G>T							p.E77*	NM_001098806	NP_001092276					3	398	+									Nonsense_Mutation	SNP		37	c.229G>T																																																																																				0	0.294									4	65	1	0	0.00909568	0.009096	0.00944648	4	65				
FOXB2	442425	broad.mit.edu	37	9	79635163	79635163	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:79635163C>T	ENST00000376708.1	+	1	593	c.593C>T	c.(592-594)cCc>cTc	p.P198L		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	198					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCGTCACAGCCCCCGCAGCAA	0.766																																							uc004ako.1		NA																	0					0						c.(592-594)CCC>CTC		forkhead box B2							9.0	14.0	12.0					9																	79635163		1930	3767	5697	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635163C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.593C>T	9.37:g.79635163C>T	ENSP00000365898:p.Pro198Leu						p.P198L	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	593	+			198						Missense_Mutation	SNP	ENST00000376708.1	37	c.593C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	9.602	1.129060	0.21041	.	.	ENSG00000204612	ENST00000376708	T	0.39997	1.05	3.44	2.37	0.29283	.	4.019680	0.02355	U	0.076327	T	0.27663	0.0680	N	0.22421	0.69	0.44309	D	0.99718	B	0.02656	0.0	B	0.04013	0.001	T	0.44667	-0.9313	10	0.10377	T	0.69	.	4.9291	0.13909	0.2262:0.6388:0.0:0.1351	.	198	Q5VYV0	FOXB2_HUMAN	L	198	ENSP00000365898:P198L	ENSP00000365898:P198L	P	+	2	0	FOXB2	78824983	0.016000	0.18221	0.997000	0.53966	0.714000	0.41099	1.552000	0.36244	1.447000	0.47661	0.462000	0.41574	CCC		0.766	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		9	15	0	0	0	0.004007	0	9	15				
NTRK2	4915	broad.mit.edu	37	9	87635137	87635137	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:87635137T>A	ENST00000323115.4	+	16	2494	c.2141T>A	c.(2140-2142)aTg>aAg	p.M714K	NTRK2_ENST00000376213.1_Missense_Mutation_p.M714K|NTRK2_ENST00000376214.1_Missense_Mutation_p.M730K|NTRK2_ENST00000277120.3_Missense_Mutation_p.M730K			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGCCACACAATGCTGCCCATT	0.572										TSP Lung(25;0.17)																													uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(2140-2142)ATG>AAG		neurotrophic tyrosine kinase, receptor, type 2							109.0	100.0	103.0					9																	87635137		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635137T>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2141T>A	9.37:g.87635137T>A	ENSP00000314586:p.Met714Lys	TSP Lung(25;0.17)				NTRK2_uc004anz.1_Missense_Mutation_p.M730K	p.M714K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			19	3079	+			714			Protein kinase.|Cytoplasmic (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.2141T>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	T	33	5.206846	0.95033	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	N	0.05280	-0.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.91270	0.5043	10	0.59425	D	0.04	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	714;730	Q16620;Q16620-4	NTRK2_HUMAN;.	K	730;714;730;714	ENSP00000365387:M730K;ENSP00000365386:M714K;ENSP00000277120:M730K;ENSP00000314586:M714K	ENSP00000277120:M730K	M	+	2	0	NTRK2	86824957	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.033000	0.88852	2.333000	0.79357	0.533000	0.62120	ATG		0.572	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			29	77	0	0	0	0.008361	0	29	77				
FBP1	2203	broad.mit.edu	37	9	97365818	97365818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:97365818C>A	ENST00000375326.4	-	7	1058	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	FBP1_ENST00000415431.1_Missense_Mutation_p.V288F	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	288					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTCTCCATGACGTAGGCCATG	0.542											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(142;590 2466 25593 44496)	Ovarian(142;590 2466 25593 44496)	uc004auw.3		NA																	0					0						c.(862-864)GTC>TTC		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						81.0	79.0	80.0					9																	97365818		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97365818C>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.862G>T	9.37:g.97365818C>A	ENSP00000364475:p.Val288Phe		OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	FBP1_uc010mrl.2_Missense_Mutation_p.V288F	p.V288F	NM_000507	NP_000498	P09467	F16P1_HUMAN			7	1193	-		Acute lymphoblastic leukemia(62;0.136)	288					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.862G>T	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678475	0.68042	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.73047	-0.71;-0.71	5.24	0.922	0.19408	.	0.239850	0.43260	D	0.000589	T	0.77061	0.4075	M	0.81497	2.545	0.46185	D	0.998912	D	0.54772	0.968	P	0.54312	0.748	T	0.76501	-0.2936	10	0.87932	D	0	-24.1429	9.2473	0.37534	0.0:0.5163:0.0:0.4837	.	288	P09467	F16P1_HUMAN	F	288	ENSP00000364475:V288F;ENSP00000408025:V288F	ENSP00000364475:V288F	V	-	1	0	FBP1	96405639	0.598000	0.26882	0.187000	0.23214	0.978000	0.69477	-0.038000	0.12144	0.001000	0.14605	0.655000	0.94253	GTC		0.542	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		14	40	1	0	1.3612e-06	0.003163	1.66615e-06	14	40				
RNF20	56254	broad.mit.edu	37	9	104317049	104317049	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:104317049A>T	ENST00000389120.3	+	15	2183	c.2093A>T	c.(2092-2094)gAg>gTg	p.E698V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	698					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGGCTGATGAGGATGCCTTG	0.423																																							uc004bbn.2		NA																	0				ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2092-2094)GAG>GTG		ring finger protein 20							97.0	98.0	97.0					9																	104317049		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104317049A>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2093A>T	9.37:g.104317049A>T	ENSP00000373772:p.Glu698Val						p.E698V	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	15	2183	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	698			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2093A>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741744	0.89573	.	.	ENSG00000155827	ENST00000389120	T	0.37058	1.22	5.69	5.69	0.88448	.	0.092214	0.64402	D	0.000001	T	0.59418	0.2192	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.60141	-0.7321	10	0.42905	T	0.14	-24.7634	15.6065	0.76676	1.0:0.0:0.0:0.0	.	698	Q5VTR2	BRE1A_HUMAN	V	698	ENSP00000373772:E698V	ENSP00000373772:E698V	E	+	2	0	RNF20	103356870	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.850000	0.92190	2.177000	0.69029	0.533000	0.62120	GAG		0.423	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	37	0	0	0	0.00308	0	5	37				
LPAR1	1902	broad.mit.edu	37	9	113704146	113704146	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:113704146C>A	ENST00000374431.3	-	4	731	c.348G>T	c.(346-348)ctG>ctT	p.L116L	LPAR1_ENST00000374430.2_Silent_p.L116L|LPAR1_ENST00000541779.1_Silent_p.L117L|LPAR1_ENST00000358883.4_Silent_p.L116L|LPAR1_ENST00000538760.1_Silent_p.L117L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	116					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGCTAACAGTCAGTCTCCGAG	0.498																																					NSCLC(115;661 2323 9836 34256)	NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(346-348)CTG>CTT		lysophosphatidic acid receptor 1							151.0	151.0	151.0					9																	113704146		2203	4300	6503	SO:0001819	synonymous_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704146C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.348G>T	9.37:g.113704146C>A						LPAR1_uc011lwm.1_Silent_p.L117L|LPAR1_uc004bfb.2_Silent_p.L116L|LPAR1_uc004bfc.2_Silent_p.L116L|LPAR1_uc011lwn.1_Silent_p.L98L|LPAR1_uc011lwo.1_Silent_p.L117L|LPAR1_uc010mub.2_Silent_p.L116L	p.L116L	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	603	-			116			Extracellular (Potential).		B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	c.348G>T	CCDS6777.1																																																																																				0.498	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		47	91	1	0	2.65591e-33	0.00361	4.61419e-33	47	91				
PAPPA	5069	broad.mit.edu	37	9	118950203	118950203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:118950203G>T	ENST00000328252.3	+	2	1555	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGGGAGCTGGACGTGCTGGA	0.577																																							uc004bjn.2		NA																	0		p.D396E(1)		ovary(4)|skin(4)|pancreas(1)	9						c.(1186-1188)GAC>TAC		pregnancy-associated plasma protein A							69.0	60.0	63.0					9																	118950203		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950203G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1186G>T	9.37:g.118950203G>T	ENSP00000330658:p.Asp396Tyr					PAPPA_uc011lxp.1_Missense_Mutation_p.D189Y|PAPPA_uc011lxq.1_Missense_Mutation_p.D189Y	p.D396Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1567	+			396			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1186G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828156	0.32329	.	.	ENSG00000182752	ENST00000328252	T	0.42900	0.96	6.17	3.34	0.38264	.	0.456357	0.28742	N	0.014290	T	0.36496	0.0969	L	0.36672	1.1	0.80722	D	1	P	0.34837	0.472	B	0.37888	0.26	T	0.12578	-1.0542	10	0.66056	D	0.02	-7.9315	12.5358	0.56140	0.117:0.1012:0.7817:0.0	.	396	Q13219	PAPP1_HUMAN	Y	396	ENSP00000330658:D396Y	ENSP00000330658:D396Y	D	+	1	0	PAPPA	117990024	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.507000	0.53371	0.181000	0.19994	-0.797000	0.03246	GAC		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		17	42	1	0	3.99206e-14	0.007413	5.94864e-14	17	42				
BRINP1	1620	broad.mit.edu	37	9	122004435	122004435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:122004435C>A	ENST00000265922.3	-	4	930	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	BRINP1_ENST00000373964.2_Missense_Mutation_p.A157S	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	157	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTTTGAGTGGCATTCCCTGAC	0.483																																							uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(469-471)GCC>TCC		deleted in bladder cancer 1 precursor							161.0	129.0	140.0					9																	122004435		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004435C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.469G>T	9.37:g.122004435C>A	ENSP00000265922:p.Ala157Ser					DBC1_uc004bkd.2_Missense_Mutation_p.A157S	p.A157S	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	925	-			157			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.469G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237075	0.22711	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83335	-1.71;-1.71	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.045697	0.85682	D	0.000000	T	0.69260	0.3091	N	0.11313	0.125	0.58432	D	0.999995	B;B	0.28291	0.206;0.089	B;B	0.30401	0.115;0.099	T	0.66654	-0.5869	10	0.02654	T	1	-19.3159	20.0666	0.97706	0.0:1.0:0.0:0.0	.	157;157	O60477-2;O60477	.;DBC1_HUMAN	S	157	ENSP00000265922:A157S;ENSP00000363075:A157S	ENSP00000265922:A157S	A	-	1	0	DBC1	121044256	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	GCC		0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		26	54	1	0	9.04412e-07	0.004656	1.10882e-06	26	54				
CDK5RAP2	55755	broad.mit.edu	37	9	123165113	123165113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:123165113T>A	ENST00000349780.4	-	34	5457	c.5278A>T	c.(5278-5280)Agc>Tgc	p.S1760C	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1719C|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1681C|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1728C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1760	Interaction with CDK5R1. {ECO:0000250}.|Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTTGTGGAGCTGGGAGCCTCT	0.577																																							uc004bkf.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(5278-5280)AGC>TGC		CDK5 regulatory subunit associated protein 2							60.0	58.0	59.0					9																	123165113		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123165113T>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5278A>T	9.37:g.123165113T>A	ENSP00000343818:p.Ser1760Cys					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S769C|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1045C|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1681C|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1530C	p.S1760C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			34	5459	-			1760			Interaction with PCNT and AKAP9.|Interaction with CDK5R1 (By similarity).		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.5278A>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114225	0.56505	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.15	-1.92	0.07618	.	0.829557	0.11032	N	0.607149	T	0.51244	0.1663	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D	0.76494	0.995;0.961;0.999;0.964;0.995	P;P;P;B;P	0.61722	0.846;0.54;0.893;0.338;0.846	T	0.45145	-0.9281	10	0.62326	D	0.03	.	6.8282	0.23895	0.0:0.5728:0.1654:0.2618	.	770;1728;1681;1760;1154	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	C	1728;1719;1760;1681;1154;770;1532	ENSP00000354065:S1728C;ENSP00000352258:S1719C;ENSP00000343818:S1760C;ENSP00000353317:S1681C;ENSP00000400395:S1154C;ENSP00000409941:S770C	ENSP00000341695:S1532C	S	-	1	0	CDK5RAP2	122204934	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.185000	0.09684	-0.480000	0.06803	0.383000	0.25322	AGC		0.577	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		20	50	0	0	0	0.002299	0	20	50				
DAB2IP	153090	broad.mit.edu	37	9	124536647	124536647	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:124536647A>T	ENST00000408936.3	+	13	3258	c.3076A>T	c.(3076-3078)Agg>Tgg	p.R1026W	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R998W|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R902W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1026					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCCCCCACAGGGATAGGCT	0.637																																							uc004bln.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2992-2994)AGG>TGG		disabled homolog 2 interacting protein isoform							33.0	39.0	37.0					9																	124536647		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124536647A>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3076A>T	9.37:g.124536647A>T	ENSP00000386183:p.Arg1026Trp					DAB2IP_uc004blo.2_Missense_Mutation_p.R902W|DAB2IP_uc004blp.2_Missense_Mutation_p.R431W	p.R998W	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			13	3061	+			1026			Potential.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2992A>T		.	.	.	.	.	.	.	.	.	.	A	23.1	4.375956	0.82682	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.44	5.44	0.79542	.	0.091893	0.64402	D	0.000001	T	0.35624	0.0938	M	0.66939	2.045	0.49483	D	0.99979	D;D	0.76494	0.999;0.997	D;D	0.73380	0.98;0.97	T	0.08576	-1.0715	10	0.72032	D	0.01	.	14.6894	0.69072	1.0:0.0:0.0:0.0	.	1026;998	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	W	998;1026;935;902	ENSP00000259371:R998W;ENSP00000386183:R1026W;ENSP00000362887:R935W;ENSP00000310827:R902W	ENSP00000259371:R998W	R	+	1	2	DAB2IP	123576468	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.136000	0.64783	2.072000	0.62099	0.460000	0.39030	AGG		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		4	24	0	0	0	0.009096	0	4	24				
OR1L1	26737	broad.mit.edu	37	9	125424280	125424280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:125424280G>T	ENST00000373686.1	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*	OR1L1_ENST00000309623.1_Nonsense_Mutation_p.E96*			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTCTTACAGTGAGTGTCTGAC	0.433																																							uc011lza.1		NA																	0				skin(3)|ovary(1)	4						c.(436-438)GAG>TAG		olfactory receptor, family 1, subfamily L,							203.0	200.0	201.0					9																	125424280		2203	4300	6503	SO:0001587	stop_gained	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424280G>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.436G>T	9.37:g.125424280G>T	ENSP00000362790:p.Glu146*						p.E146*	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	436	+			146			Extracellular (Potential).		Q5T7Z3|Q6IFN2	Nonsense_Mutation	SNP	ENST00000373686.1	37	c.436G>T		.	.	.	.	.	.	.	.	.	.	G	14.35	2.510189	0.44660	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	.	.	.	3.11	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.834	0.29360	0.1356:0.0:0.8644:0.0	.	.	.	.	X	146;96	.	ENSP00000310773:E96X	E	+	1	0	OR1L1	124464101	0.094000	0.21725	0.406000	0.26421	0.082000	0.17680	2.542000	0.45744	1.721000	0.51461	0.313000	0.20887	GAG		0.433	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				38	232	1	0	3.93418e-24	0.004289	6.57732e-24	38	232				
OR1L1	26737	broad.mit.edu	37	9	125424286	125424286	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:125424286C>G	ENST00000373686.1	+	1	442	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	OR1L1_ENST00000309623.1_Missense_Mutation_p.L98V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CAGTGAGTGTCTGACCCAGAT	0.438																																							uc011lza.1		NA																	0				skin(3)|ovary(1)	4						c.(442-444)CTG>GTG		olfactory receptor, family 1, subfamily L,							205.0	201.0	203.0					9																	125424286		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424286C>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.442C>G	9.37:g.125424286C>G	ENSP00000362790:p.Leu148Val						p.L148V	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	442	+			148			Extracellular (Potential).		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.442C>G		.	.	.	.	.	.	.	.	.	.	C	14.95	2.688547	0.48097	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.10288	2.89;2.89	3.11	0.975	0.19721	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10852	0.0265	N	0.12920	0.275	0.22354	N	0.99917	D	0.53462	0.96	P	0.56474	0.799	T	0.22941	-1.0202	9	0.52906	T	0.07	.	5.1789	0.15150	0.3026:0.5791:0.0:0.1183	.	148	Q8NH94	OR1L1_HUMAN	V	148;98	ENSP00000362790:L148V;ENSP00000310773:L98V	ENSP00000310773:L98V	L	+	1	2	OR1L1	124464107	0.000000	0.05858	0.826000	0.32828	0.236000	0.25371	-1.184000	0.03076	0.622000	0.30249	0.313000	0.20887	CTG		0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				17	258	0	0	0	0.007413	0	17	258				
GARNL3	84253	broad.mit.edu	37	9	130111211	130111211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:130111211G>T	ENST00000373387.4	+	17	1792	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	GARNL3_ENST00000314904.5_Missense_Mutation_p.E480D|GARNL3_ENST00000435213.2_Missense_Mutation_p.E458D	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGCCGTGGGAGCCCCAGTGTT	0.522																																							uc011mae.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1438-1440)GAG>GAT		GTPase activating Rap/RanGAP domain-like 3							139.0	119.0	126.0					9																	130111211		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130111211G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1440G>T	9.37:g.130111211G>T	ENSP00000362485:p.Glu480Asp					GARNL3_uc011mad.1_Missense_Mutation_p.E458D	p.E480D	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			17	1841	+			480					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1440G>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589745	0.86851	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.89415	-2.49;-2.46;-2.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.69823	2.125	0.58432	D	0.99999	D;D	0.67145	0.996;0.996	P;P	0.62649	0.905;0.872	D	0.91613	0.5304	9	.	.	.	.	12.4728	0.55797	0.0767:0.0:0.9233:0.0	.	480;458	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	D	458;480;480	ENSP00000396205:E458D;ENSP00000313970:E480D;ENSP00000362485:E480D	.	E	+	3	2	GARNL3	129151032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.125000	0.42016	2.941000	0.99782	0.655000	0.94253	GAG		0.522	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		25	43	1	0	3.28513e-13	0.003954	4.80968e-13	25	43				
FAM102A	399665	broad.mit.edu	37	9	130710649	130710649	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:130710649C>T	ENST00000373095.1	-	5	834	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FAM102A_ENST00000373084.4_Silent_p.K11K|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	153										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCACTCACGTCTTGAAGCAGG	0.617																																							uc004bsx.1		NA																	0				ovary(1)	1						c.(457-459)AAG>AAA		early estrogen-induced gene 1 protein isoform a							111.0	99.0	103.0					9																	130710649		2203	4300	6503	SO:0001819	synonymous_variant	399665							g.chr9:130710649C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.459G>A	9.37:g.130710649C>T						FAM102A_uc004bsw.1_Silent_p.K11K|FAM102A_uc004bsy.1_5'Flank	p.K153K	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			5	538	-			153					A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	37	c.459G>A	CCDS35150.1																																																																																				0.617	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			18	54	0	0	0	0.008871	0	18	54				
SPTAN1	6709	broad.mit.edu	37	9	131343323	131343323	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:131343323G>C	ENST00000372731.4	+	11	1556	c.1446G>C	c.(1444-1446)tgG>tgC	p.W482C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.W482C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.W482C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	482					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGACAACTGGATGAGCAAGC	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(1444-1446)TGG>TGC		spectrin, alpha, non-erythrocytic 1							86.0	80.0	82.0					9																	131343323		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131343323G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1446G>C	9.37:g.131343323G>C	ENSP00000361816:p.Trp482Cys					SPTAN1_uc011mbg.1_Missense_Mutation_p.W482C|SPTAN1_uc011mbh.1_Missense_Mutation_p.W494C|SPTAN1_uc004bvm.3_Missense_Mutation_p.W482C|SPTAN1_uc004bvn.3_Missense_Mutation_p.W482C	p.W482C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			11	1559	+			482			Spectrin 6.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1446G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236287	0.79800	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70749	-0.51;-0.51;-0.51	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.95574	3.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;0.956;1.0	D	0.92244	0.5803	10	0.87932	D	0	.	18.3195	0.90232	0.0:0.0:1.0:0.0	.	482;482;482;482;482	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	482	ENSP00000350882:W482C;ENSP00000361816:W482C;ENSP00000361824:W482C	ENSP00000350882:W482C	W	+	3	0	SPTAN1	130383144	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.452000	0.97615	2.573000	0.86826	0.455000	0.32223	TGG		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		12	94	0	0	0	0.001855	0	12	94				
FAM78A	286336	broad.mit.edu	37	9	134136376	134136376	+	Missense_Mutation	SNP	C	C	A	rs531052842		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:134136376C>A	ENST00000372271.3	-	2	1052	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.A226S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	229										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CGCAGCCGGGCGCGCTGGCCC	0.652																																							uc004cak.2		NA																	0				ovary(1)	1						c.(685-687)GCC>TCC		hypothetical protein LOC286336							57.0	63.0	61.0					9																	134136376		2203	4299	6502	SO:0001583	missense	286336							g.chr9:134136376C>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.685G>T	9.37:g.134136376C>A	ENSP00000361345:p.Ala229Ser					FAM78A_uc004caj.2_Missense_Mutation_p.A226S	p.A229S	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1025	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	229					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.685G>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991059	0.93106	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94723	-3.5;-3.5;-3.5	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.97220	0.9877	10	0.62326	D	0.03	-41.4273	17.1064	0.86664	0.0:1.0:0.0:0.0	.	229;226	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	S	226;229;198	ENSP00000361343:A226S;ENSP00000361345:A229S;ENSP00000419959:A198S	ENSP00000361343:A226S	A	-	1	0	FAM78A	133126197	1.000000	0.71417	0.878000	0.34440	0.908000	0.53690	7.776000	0.85560	2.337000	0.79520	0.462000	0.41574	GCC		0.652	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		23	66	1	0	1.9806e-07	0.002299	2.52685e-07	23	66				
ARSF	416	broad.mit.edu	37	X	2994711	2994711	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:2994711G>T	ENST00000381127.1	+	4	504		c.e4+1		ARSF_ENST00000537104.1_Splice_Site|ARSF_ENST00000359361.2_Splice_Site	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				ATCCGATCAGGTGCGCAAACT	0.582																																							uc004cre.1		NA																	0				ovary(2)	2						c.e4+1		arylsulfatase F precursor							65.0	51.0	56.0					X																	2994711		2203	4300	6503	SO:0001630	splice_region_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2994711G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.283+1G>T	X.37:g.2994711G>T						ARSF_uc004crf.1_Splice_Site_p.G95_splice	p.G95_splice	NM_004042	NP_004033	P54793	ARSF_HUMAN			4	504	+		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)						Q8TCC5	Splice_Site	SNP	ENST00000381127.1	37	c.283_splice	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897136	0.17686	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0546	0.58973	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSF	3004711	1.000000	0.71417	0.106000	0.21319	0.106000	0.19336	7.414000	0.80117	1.085000	0.41206	0.279000	0.19357	.		0.582	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		Intron	5	17	1	0	1.23904e-05	0.000602	1.46662e-05	5	17				
PIGA	5277	broad.mit.edu	37	X	15349879	15349879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:15349879C>A	ENST00000333590.4	-	2	258	c.174G>T	c.(172-174)caG>caT	p.Q58H	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	58					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATCAGGCACTGAGAGAGCT	0.428																																							uc004cwr.2		NA																	0					0						c.(172-174)CAG>CAT		phosphatidylinositol							131.0	113.0	119.0					X																	15349879		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15349879C>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.174G>T	X.37:g.15349879C>A	ENSP00000369820:p.Gln58His					PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Missense_Mutation_p.Q58H|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Missense_Mutation_p.Q58H	p.Q58H	NM_002641	NP_002632	P37287	PIGA_HUMAN			2	274	-	Hepatocellular(33;0.183)		58			Cytoplasmic (Potential).		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.174G>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916829	0.52546	.	.	ENSG00000165195	ENST00000333590	T	0.75821	-0.97	6.08	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	L	0.33753	1.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.76984	-0.2756	10	0.51188	T	0.08	-9.2953	11.1013	0.48177	0.0:0.849:0.0:0.151	.	58;58;58	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	H	58	ENSP00000369820:Q58H	ENSP00000369820:Q58H	Q	-	3	2	PIGA	15259800	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.006000	0.49529	0.685000	0.31468	-0.191000	0.12829	CAG		0.428	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		22	36	1	0	4.35082e-09	0.010504	5.81652e-09	22	36				
MAGEB6	158809	broad.mit.edu	37	X	26212607	26212607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:26212607C>A	ENST00000379034.1	+	2	793	c.644C>A	c.(643-645)tCc>tAc	p.S215Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	215	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S215Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGAAAGAGTCCATTTTGAAG	0.468																																							uc004dbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(643-645)TCC>TAC		melanoma antigen family B, 6							87.0	73.0	78.0					X																	26212607		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212607C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.644C>A	X.37:g.26212607C>A	ENSP00000368320:p.Ser215Tyr					MAGEB6_uc010ngc.1_5'UTR	p.S215Y	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	793	+			215			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.644C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740904	0.30865	.	.	ENSG00000176746	ENST00000379034	T	0.05025	3.51	3.1	2.22	0.28083	.	0.140599	0.48286	U	0.000188	T	0.08313	0.0207	L	0.48642	1.525	0.09310	N	1	P	0.52316	0.952	P	0.48227	0.571	T	0.15065	-1.0450	10	0.49607	T	0.09	.	6.8808	0.24173	0.2717:0.7283:0.0:0.0	.	215	Q8N7X4	MAGB6_HUMAN	Y	215	ENSP00000368320:S215Y	ENSP00000368320:S215Y	S	+	2	0	MAGEB6	26122528	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.058000	0.14301	0.684000	0.31448	0.594000	0.82650	TCC		0.468	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		17	58	1	0	1.33834e-09	0.007413	1.8052e-09	17	58				
MAGEB1	4112	broad.mit.edu	37	X	30269404	30269404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:30269404C>A	ENST00000378981.3	+	4	1115	c.794C>A	c.(793-795)cCc>cAc	p.P265H	MAGEB1_ENST00000397548.2_Missense_Mutation_p.P265H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.P265H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	265	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACAGTGATCCCCCACGCTAT	0.507																																							uc004dcc.2		NA																	0					0						c.(793-795)CCC>CAC		melanoma antigen family B, 1							106.0	93.0	97.0					X																	30269404		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269404C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.794C>A	X.37:g.30269404C>A	ENSP00000368264:p.Pro265His					MAGEB1_uc004dcd.2_Missense_Mutation_p.P265H|MAGEB1_uc004dce.2_Missense_Mutation_p.P265H	p.P265H	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1114	+			265			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.794C>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278014	0.23307	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06449	3.3;3.3;3.3	3.99	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	H	0.96175	3.78	0.09310	N	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.23297	-1.0192	10	0.87932	D	0	.	6.8328	0.23919	0.0:0.8725:0.0:0.1275	.	265	P43366	MAGB1_HUMAN	H	265	ENSP00000368264:P265H;ENSP00000380683:P265H;ENSP00000380681:P265H	ENSP00000368264:P265H	P	+	2	0	MAGEB1	30179325	0.950000	0.32346	0.225000	0.23894	0.027000	0.11550	3.181000	0.50903	1.036000	0.39998	0.600000	0.82982	CCC		0.507	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		24	33	1	0	4.26978e-12	0.00333	6.12055e-12	24	33				
CXorf22	170063	broad.mit.edu	37	X	35974241	35974241	+	Silent	SNP	G	G	T	rs373129355		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:35974241G>T	ENST00000297866.5	+	8	1404	c.1338G>T	c.(1336-1338)acG>acT	p.T446T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	446										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCCTGTGACGTACCACTTTA	0.353																																							uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1336-1338)ACG>ACT		hypothetical protein LOC170063							62.0	57.0	59.0					X																	35974241		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35974241G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1338G>T	X.37:g.35974241G>T						CXorf22_uc010ngv.2_RNA	p.T446T	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1397	+			446					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.1338G>T	CCDS14237.2																																																																																				0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		14	33	1	0	4.3838e-07	0.001855	5.49981e-07	14	33				
CCNB3	85417	broad.mit.edu	37	X	50094639	50094639	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:50094639G>T	ENST00000376042.1	+	13	4423	c.4125G>T	c.(4123-4125)ttG>ttT	p.L1375F	CCNB3_ENST00000376038.1_Missense_Mutation_p.L271F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L271F|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1375F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1375					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTGCCTTGGATATGTTGA	0.483																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4123-4125)TTG>TTT		cyclin B3 isoform 3							114.0	99.0	104.0					X																	50094639		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094639G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4125G>T	X.37:g.50094639G>T	ENSP00000365210:p.Leu1375Phe					CCNB3_uc004doy.2_Missense_Mutation_p.L1375F|CCNB3_uc004doz.2_Missense_Mutation_p.L271F|CCNB3_uc010njq.2_Missense_Mutation_p.L267F|CCNB3_uc004dpa.2_Missense_Mutation_p.L214F	p.L1375F	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			13	4423	+	Ovarian(276;0.236)		1375					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.4125G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560713	0.45590	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.35048	1.95;1.33;1.33;1.95	5.17	5.17	0.71159	Cyclin-like (2);	0.792207	0.11259	N	0.582782	T	0.67785	0.2930	M	0.86740	2.835	0.43246	D	0.995168	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.991;0.997	T	0.68146	-0.5486	9	.	.	.	.	16.7197	0.85407	0.0:0.0:1.0:0.0	.	1375;271;1375	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	F	1375;271;271;1375	ENSP00000365210:L1375F;ENSP00000365206:L271F;ENSP00000338682:L271F;ENSP00000276014:L1375F	.	L	+	3	2	CCNB3	50111379	1.000000	0.71417	0.117000	0.21633	0.007000	0.05969	7.079000	0.76829	2.294000	0.77228	0.529000	0.55759	TTG		0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			10	21	1	0	0.00829132	0.008291	0.00867081	10	21				
ZCCHC5	203430	broad.mit.edu	37	X	77912812	77912812	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:77912812A>G	ENST00000321110.1	-	2	1401	c.1106T>C	c.(1105-1107)aTa>aCa	p.I369T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	369							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCATCTTGTATAGAACTGGC	0.488																																							uc004edc.1		NA																	0				ovary(1)	1						c.(1105-1107)ATA>ACA		zinc finger, CCHC domain containing 5							107.0	91.0	96.0					X																	77912812		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912812A>G	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1106T>C	X.37:g.77912812A>G	ENSP00000316794:p.Ile369Thr						p.I369T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1402	-			369					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1106T>C	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	A	0.862	-0.734797	0.03111	.	.	ENSG00000179300	ENST00000321110	T	0.21543	2.0	3.2	2.0	0.26442	.	0.187611	0.21607	U	0.071856	T	0.15955	0.0384	L	0.50333	1.59	0.09310	N	1	B	0.34103	0.437	B	0.29862	0.108	T	0.15065	-1.0450	10	0.59425	D	0.04	.	5.7036	0.17895	0.722:0.278:0.0:0.0	.	369	Q8N8U3	ZCHC5_HUMAN	T	369	ENSP00000316794:I369T	ENSP00000316794:I369T	I	-	2	0	ZCCHC5	77799468	0.699000	0.27786	0.010000	0.14722	0.004000	0.04260	2.266000	0.43320	0.440000	0.26502	0.412000	0.27726	ATA		0.488	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		19	32	0	0	0	0.001882	0	19	32				
PCDH11X	27328	broad.mit.edu	37	X	91132808	91132808	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:91132808T>A	ENST00000373094.1	+	2	2414	c.1569T>A	c.(1567-1569)acT>acA	p.T523T	PCDH11X_ENST00000406881.1_Silent_p.T523T|PCDH11X_ENST00000504220.2_Silent_p.T523T|PCDH11X_ENST00000361724.1_Silent_p.T523T|PCDH11X_ENST00000395337.2_Silent_p.T523T|PCDH11X_ENST00000373088.1_Silent_p.T523T|PCDH11X_ENST00000373097.1_Silent_p.T523T|PCDH11X_ENST00000298274.8_Silent_p.T523T|PCDH11X_ENST00000361655.2_Silent_p.T523T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCATGCTGACTGTAGTGAAGA	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(1567-1569)ACT>ACA		protocadherin 11 X-linked isoform c							65.0	58.0	61.0					X																	91132808		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132808T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1569T>A	X.37:g.91132808T>A						PCDH11X_uc004efl.1_Silent_p.T523T|PCDH11X_uc004efo.1_Silent_p.T523T|PCDH11X_uc010nmv.1_Silent_p.T523T|PCDH11X_uc004efm.1_Silent_p.T523T|PCDH11X_uc004efn.1_Silent_p.T523T|PCDH11X_uc004efh.1_Silent_p.T523T|PCDH11X_uc004efj.1_Silent_p.T523T	p.T523T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2414	+			523			Cadherin 5.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1569T>A	CCDS14461.1																																																																																				0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		10	32	0	0	0	0.006214	0	10	32				
TRMT2B	79979	broad.mit.edu	37	X	100292981	100292981	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:100292981G>C	ENST00000372936.3	-	5	1135	c.363C>G	c.(361-363)ctC>ctG	p.L121L	TRMT2B_ENST00000372935.1_Silent_p.L121L|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000372931.5_Silent_p.L121L|TRMT2B_ENST00000545398.1_Silent_p.L121L	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	121						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGACTCCATTGAGCATTTGGA	0.428																																							uc004egq.2		NA																	0				ovary(1)	1						c.(361-363)CTC>CTG		TRM2 tRNA methyltransferase 2 homolog B							243.0	248.0	246.0					X																	100292981		2203	4300	6503	SO:0001819	synonymous_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100292981G>C	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.363C>G	X.37:g.100292981G>C						TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L121L|TRMT2B_uc004egs.2_Silent_p.L121L|TRMT2B_uc004egt.2_Silent_p.L121L|TRMT2B_uc004egu.2_Silent_p.L2L|TRMT2B_uc004egv.2_Intron	p.L121L	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			4	662	-			121					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	c.363C>G	CCDS14477.1																																																																																				0.428	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		70	150	0	0	0	0.00361	0	70	150				
BHLHB9	80823	broad.mit.edu	37	X	102004718	102004718	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:102004718C>T	ENST00000372735.1	+	4	1380	c.795C>T	c.(793-795)tgC>tgT	p.C265C	BHLHB9_ENST00000448867.1_Silent_p.C265C|BHLHB9_ENST00000457056.1_Silent_p.C265C|BHLHB9_ENST00000447531.1_Silent_p.C265C|BHLHB9_ENST00000361229.4_Silent_p.C265C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	265					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAACAGCTTGCCGCCCTTCTA	0.502																																							uc010nog.2		NA																	0				ovary(2)	2						c.(793-795)TGC>TGT		basic helix-loop-helix domain containing, class							62.0	57.0	59.0					X																	102004718		2203	4300	6503	SO:0001819	synonymous_variant	80823					cytoplasm|nucleus	binding	g.chrX:102004718C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.795C>T	X.37:g.102004718C>T						BHLHB9_uc011mrq.1_Silent_p.C265C|BHLHB9_uc011mrr.1_Silent_p.C265C|BHLHB9_uc011mrs.1_Silent_p.C265C|BHLHB9_uc011mrt.1_Silent_p.C265C|BHLHB9_uc004ejo.2_Silent_p.C265C|BHLHB9_uc011mru.1_Silent_p.C265C|BHLHB9_uc011mrv.1_Silent_p.C265C	p.C265C	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1366	+			265					Q9C0G2	Silent	SNP	ENST00000372735.1	37	c.795C>T	CCDS14502.1																																																																																				0.502	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		15	35	0	0	0	0.00245	0	15	35				
IRS4	8471	broad.mit.edu	37	X	107977627	107977627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:107977627C>A	ENST00000372129.2	-	1	2024	c.1948G>T	c.(1948-1950)Ggg>Tgg	p.G650W	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AATCTTCCCCCAGACTTCCCT	0.498																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1948-1950)GGG>TGG		insulin receptor substrate 4							215.0	229.0	225.0					X																	107977627		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977627C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1948G>T	X.37:g.107977627C>A	ENSP00000361202:p.Gly650Trp						p.G650W	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1981	-			650						Missense_Mutation	SNP	ENST00000372129.2	37	c.1948G>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487762	0.26686	.	.	ENSG00000133124	ENST00000372129	T	0.47177	0.85	4.9	4.0	0.46444	.	0.415796	0.21187	N	0.078716	T	0.60971	0.2310	L	0.59436	1.845	0.24110	N	0.995844	D	0.59767	0.986	D	0.66602	0.945	T	0.52208	-0.8606	10	0.72032	D	0.01	-7.7043	11.6074	0.51039	0.0:0.8257:0.1743:0.0	.	650	O14654	IRS4_HUMAN	W	650	ENSP00000361202:G650W	ENSP00000361202:G650W	G	-	1	0	IRS4	107864283	0.038000	0.19896	0.981000	0.43875	0.358000	0.29455	1.470000	0.35354	2.257000	0.74773	0.600000	0.82982	GGG		0.498	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		57	131	1	0	4.54978e-40	0.00361	7.94106e-40	57	131				
RGAG1	57529	broad.mit.edu	37	X	109695399	109695399	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:109695399A>G	ENST00000465301.2	+	3	1800	c.1554A>G	c.(1552-1554)acA>acG	p.T518T	RGAG1_ENST00000540313.1_Silent_p.T518T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	518										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTACGGCAACAGCCTCTGAAA	0.512																																							uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1552-1554)ACA>ACG		retrotransposon gag domain containing 1							174.0	159.0	164.0					X																	109695399		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695399A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1554A>G	X.37:g.109695399A>G						RGAG1_uc011msr.1_Silent_p.T518T	p.T518T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1800	+			518					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1554A>G	CCDS14552.1																																																																																				0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		42	91	0	0	0	0.007835	0	42	91				
TMEM255A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:119410766C>T	ENST00000309720.5	-	8	844	c.721G>A	c.(721-723)Gct>Act	p.A241T	TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T|TMEM255A_ENST00000371369.4_Missense_Mutation_p.A217T|TMEM255A_ENST00000440464.1_Intron	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	241						integral component of membrane (GO:0016021)											CCAAGGACAGCGGCAGTGATG	0.527																																							uc004eso.3		NA																	0				lung(1)|breast(1)	2						c.(721-723)GCT>ACT		hypothetical protein LOC55026 isoform 1							174.0	127.0	143.0					X																	119410766		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410766C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.721G>A	X.37:g.119410766C>T	ENSP00000310110:p.Ala241Thr					FAM70A_uc004esp.3_Missense_Mutation_p.A217T|FAM70A_uc010nqo.2_Intron	p.A241T	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			8	948	-			241			Helical; (Potential).		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.721G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255235	0.95336	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.58358	0.34;0.34;0.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.79736	-0.1678	10	0.72032	D	0.01	-11.2799	16.7868	0.85576	0.0:1.0:0.0:0.0	.	217;241	B1APR4;Q5JRV8	.;FA70A_HUMAN	T	241;217;77	ENSP00000310110:A241T;ENSP00000360420:A217T;ENSP00000360403:A77T	ENSP00000310110:A241T	A	-	1	0	FAM70A	119294794	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	7.487000	0.81328	2.168000	0.68352	0.594000	0.82650	GCT		0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		9	49	0	0	0	0.006214	0	9	49				
TMEM255A	55026	broad.mit.edu	37	X	119410810	119410810	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:119410810G>A	ENST00000309720.5	-	8	800	c.677C>T	c.(676-678)aCc>aTc	p.T226I	TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62I|TMEM255A_ENST00000371369.4_Missense_Mutation_p.T202I|TMEM255A_ENST00000440464.1_Intron	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	226						integral component of membrane (GO:0016021)											GTTGAGGATGGTGGCAGACCA	0.507																																							uc004eso.3		NA																	0				lung(1)|breast(1)	2						c.(676-678)ACC>ATC		hypothetical protein LOC55026 isoform 1							246.0	177.0	200.0					X																	119410810		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410810G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.677C>T	X.37:g.119410810G>A	ENSP00000310110:p.Thr226Ile					FAM70A_uc004esp.3_Missense_Mutation_p.T202I|FAM70A_uc010nqo.2_Intron	p.T226I	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			8	904	-			226			Helical; (Potential).		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.677C>T	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807952	0.90707	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.50277	0.75;0.75;0.75	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.75124	-0.3428	10	0.87932	D	0	-17.2256	16.7868	0.85576	0.0:0.0:1.0:0.0	.	202;226	B1APR4;Q5JRV8	.;FA70A_HUMAN	I	226;202;62	ENSP00000310110:T226I;ENSP00000360420:T202I;ENSP00000360403:T62I	ENSP00000310110:T226I	T	-	2	0	FAM70A	119294838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.168000	0.68352	0.594000	0.82650	ACC		0.507	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		32	50	0	0	0	0.002836	0	32	50				
TENM1	10178	broad.mit.edu	37	X	123785874	123785874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:123785874G>T	ENST00000371130.3	-	8	1532	c.1469C>A	c.(1468-1470)tCg>tAg	p.S490*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.S490*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	490					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCCTGAAGCGAAGTTAAGAT	0.428																																							uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1468-1470)TCG>TAG		odz, odd Oz/ten-m homolog 1 isoform 3							159.0	141.0	147.0					X																	123785874		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123785874G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1469C>A	X.37:g.123785874G>T	ENSP00000360171:p.Ser490*					ODZ1_uc011muj.1_Nonsense_Mutation_p.S489*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.S490*	p.S490*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			8	1533	-			490			Extracellular (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.1469C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	39	7.363946	0.98238	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.3	5.3	0.74995	.	0.325619	0.29066	N	0.013250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.0501	0.89345	0.0:0.0:1.0:0.0	.	.	.	.	X	490	.	ENSP00000360171:S490X	S	-	2	0	ODZ1	123613555	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	6.237000	0.72345	2.197000	0.70478	0.600000	0.82982	TCG		0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		27	45	1	0	1.08971e-26	0.00632	1.85892e-26	27	45				
RAB39B	116442	broad.mit.edu	37	X	154490296	154490296	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:154490296T>C	ENST00000369454.3	-	2	734	c.434A>G	c.(433-435)tAc>tGc	p.Y145C		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCATGCCGTATGCAGCAGC	0.498																																							uc004fne.2		NA																	0					0						c.(433-435)TAC>TGC		RAB39B, member RAS oncogene family							113.0	94.0	101.0					X																	154490296		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490296T>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.434A>G	X.37:g.154490296T>C	ENSP00000358466:p.Tyr145Cys						p.Y145C	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			2	713	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		145					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.434A>G	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.709467	0.30322	.	.	ENSG00000155961	ENST00000369454	T	0.80214	-1.35	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.068860	0.64402	D	0.000011	T	0.72293	0.3442	L	0.46567	1.45	0.47094	D	0.99931	B	0.02656	0.0	B	0.06405	0.002	T	0.68096	-0.5499	10	0.41790	T	0.15	.	7.764	0.28970	0.1889:0.0:0.0:0.8111	.	145	Q96DA2	RB39B_HUMAN	C	145	ENSP00000358466:Y145C	ENSP00000358466:Y145C	Y	-	2	0	RAB39B	154143490	1.000000	0.71417	0.974000	0.42286	0.958000	0.62258	5.764000	0.68826	1.824000	0.53156	0.417000	0.27973	TAC		0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		35	27	0	0	0	0.002445	0	35	27				
SNX7	51375	broad.mit.edu	37	1	99156727	99156727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99156727delA	ENST00000306121.3	+	3	469	c.460delA	c.(460-462)actfs	p.T154fs	SNX7_ENST00000529992.1_Frame_Shift_Del_p.T154fs|SNX7_ENST00000370189.5_Frame_Shift_Del_p.T90fs	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	90					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGCACACCCCACTCTGATTAT	0.373																																							uc010ouc.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(460-462)ACTfs		sorting nexin 7 isoform a							71.0	68.0	69.0					1																	99156727		2203	4300	6503	SO:0001589	frameshift_variant	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99156727delA	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.460delA	1.37:g.99156727delA	ENSP00000304429:p.Thr154fs					SNX7_uc001dsa.2_Frame_Shift_Del_p.T90fs|SNX7_uc010oud.1_Frame_Shift_Del_p.T154fs	p.T154fs	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	3	512	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	90			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Frame_Shift_Del	DEL	ENST00000306121.3	37	c.460delA	CCDS755.2																																																																																				0.373	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			15	39	NA	NA	NA	NA	NA	15	39	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	0					0						c.(688-693)GCCCAC>GCC		zinc finger protein of the cerebellum 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.H239del	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	690_692	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		239		Missing.|H -> HH.	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	56	NA	NA	NA	NA	NA	7	56	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1395754	1395754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:1395754delC	ENST00000324385.5	+	23	2334	c.2176delC	c.(2176-2178)cccfs	p.P726fs	BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.P663fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.P668fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.P655fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.P691fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.P708fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	726	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				cTAGCTGGAGCCCGTGGACGC	0.711																																							uc002clk.1		NA																	0				pancreas(1)	1						c.(2176-2178)CCCfs		BAI1-associated protein 3							6.0	7.0	7.0					16																	1395754		2129	4187	6316	SO:0001589	frameshift_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1395754delC	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2176delC	16.37:g.1395754delC	ENSP00000324510:p.Pro726fs					BAIAP3_uc002clj.2_Frame_Shift_Del_p.P708fs|BAIAP3_uc010uuz.1_Frame_Shift_Del_p.P691fs|BAIAP3_uc010uva.1_Frame_Shift_Del_p.P663fs|BAIAP3_uc010uvc.1_Frame_Shift_Del_p.P655fs	p.P726fs	NM_003933	NP_003924	O94812	BAIP3_HUMAN			23	2176	+		Hepatocellular(780;0.0893)	726			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Del	DEL	ENST00000324385.5	37	c.2176delC	CCDS10434.1																																																																																				0.711	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9046473delC	ENST00000397910.4	-	5	35361	c.35158delG	c.(35158-35160)gccfs	p.A11720fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	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)				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						GGACTGGTGGCCATTACAGGT	0.517																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35158-35160)GCCfs		mucin 16							125.0	119.0	121.0					19																	9046473		1983	4158	6141	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046473delC	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.35158delG	19.37:g.9046473delC	ENSP00000381008:p.Ala11720fs						p.A11720fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35362	-			11722			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.35158delG	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		55	118	NA	NA	NA	NA	NA	55	118	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087356	9087357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9087356_9087357insA	ENST00000397910.4	-	1	4661_4662	c.4458_4459insT	c.(4456-4461)tttgctfs	p.A1487fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1487	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)				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						GGAAAAATAGCAAATGTACTCA	0.431																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4456-4461)TTTGCTfs		mucin 16																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087356_9087357insA	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.4459dupT	19.37:g.9087359_9087359dupA	ENSP00000381008:p.Ala1487fs						p.F1486fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4662_4663	-			1486_1487			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.4458_4459insT	CCDS54212.1																																																																																				0.431	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		55	158	NA	NA	NA	NA	NA	55	158	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207431999	207431999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:207431999delT	ENST00000264377.3	+	15	1775	c.1447delT	c.(1447-1449)tttfs	p.F483fs	ADAM23_ENST00000374415.3_Frame_Shift_Del_p.F483fs|ADAM23_ENST00000374416.1_Frame_Shift_Del_p.F483fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	483	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTATAGAGACTTTTTACAGAG	0.358																																					Melanoma(194;1127 2130 19620 24042 27855)	Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	0				skin(2)|ovary(1)	3						c.(1447-1449)TTTfs		ADAM metallopeptidase domain 23 preproprotein							77.0	82.0	80.0					2																	207431999		2203	4300	6503	SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207431999delT	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1447delT	2.37:g.207431999delT	ENSP00000264377:p.Phe483fs					ADAM23_uc010ziv.1_RNA	p.F483fs	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	15	1670	+			483			Peptidase M12B.|Extracellular (Potential).		A2RU59	Frame_Shift_Del	DEL	ENST00000264377.3	37	c.1447delT	CCDS2369.1																																																																																				0.358	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		41	96	NA	NA	NA	NA	NA	41	96	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Frame_Shift_Del	DEL	G	G	-	rs145307270		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:5862865delG	ENST00000397890.2	-	3	415	c.201delC	c.(199-201)cccfs	p.P67fs	CRMP1_ENST00000324989.7_Frame_Shift_Del_p.P181fs|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P65fs|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552																																							uc003gip.2		NA																	0				ovary(2)	2						c.(199-201)CCCfs		collapsin response mediator protein 1 isoform 2							112.0	106.0	108.0					4																	5862865		2203	4300	6503	SO:0001589	frameshift_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862865delG	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.201delC	4.37:g.5862865delG	ENSP00000380987:p.Pro67fs					CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Frame_Shift_Del_p.P67fs|CRMP1_uc003gir.2_Frame_Shift_Del_p.P62fs|CRMP1_uc003gis.2_Frame_Shift_Del_p.P181fs	p.P67fs	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	4	302	-			67					A0EJG6|Q13024|Q4W5F1|Q96TC8	Frame_Shift_Del	DEL	ENST00000397890.2	37	c.201delC	CCDS43207.1																																																																																				0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		14	117	NA	NA	NA	NA	NA	14	117	---	---	---	---
EEF1E1	9521	broad.mit.edu	37	6	8097553	8097553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:8097553delC	ENST00000379715.5	-	2	291	c.235delG	c.(235-237)gtcfs	p.V79fs	EEF1E1_ENST00000507463.1_Frame_Shift_Del_p.V79fs|EEF1E1-BLOC1S5_ENST00000397456.2_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000429723.2_Frame_Shift_Del_p.V79fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	79	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTTGAGTGACCCTGTATTCT	0.418																																							uc003mxz.2		NA																	0					0						c.(235-237)GTCfs		eukaryotic translation elongation factor 1							270.0	243.0	252.0					6																	8097553		2203	4300	6503	SO:0001589	frameshift_variant	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097553delC	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.235delG	6.37:g.8097553delC	ENSP00000369038:p.Val79fs					EEF1E1_uc011dic.1_Frame_Shift_Del_p.V79fs	p.V79fs	NM_004280	NP_004271	O43324	MCA3_HUMAN			2	309	-	Ovarian(93;0.0398)		79			GST C-terminal.		C9JLK5|Q5THS2	Frame_Shift_Del	DEL	ENST00000379715.5	37	c.235delG	CCDS4507.1																																																																																				0.418	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		46	221	NA	NA	NA	NA	NA	46	221	---	---	---	---
HIST1H3E	8353	broad.mit.edu	37	6	26225624	26225624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:26225624delC	ENST00000360408.1	+	1	242	c.242delC	c.(241-243)accfs	p.T81fs		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	81					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GACTTCAAGACCGACCTGCGC	0.592																																							uc003nhb.2		NA																	0					0						c.(241-243)ACCfs		histone cluster 1, H3f							74.0	72.0	73.0					6																	26225624		2203	4300	6503	SO:0001589	frameshift_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225624delC	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.242delC	6.37:g.26225624delC	ENSP00000353581:p.Thr81fs					HIST1H3E_uc003nhc.3_Frame_Shift_Del_p.T81fs	p.T81fs	NM_021018	NP_066298	P68431	H31_HUMAN			2	602	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	81					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000360408.1	37	c.242delC	CCDS4596.1																																																																																				0.592	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		14	82	NA	NA	NA	NA	NA	14	82	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114282627	114282627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:114282627delA	ENST00000393494.2	+	7	1217	c.938delA	c.(937-939)catfs	p.H314fs	FOXP2_ENST00000360232.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393491.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000393500.3_Frame_Shift_Del_p.H239fs|FOXP2_ENST00000403559.4_Frame_Shift_Del_p.H331fs|FOXP2_ENST00000408937.3_Frame_Shift_Del_p.H339fs|FOXP2_ENST00000350908.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393489.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000393498.2_Frame_Shift_Del_p.H293fs|FOXP2_ENST00000390668.3_Frame_Shift_Del_p.H338fs|FOXP2_ENST00000378237.3_Frame_Shift_Del_p.H314fs			O15409	FOXP2_HUMAN	forkhead box P2	314					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCAATAACTCATCATTCCATA	0.388																																							uc003vhb.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(937-939)CATfs		forkhead box P2 isoform I							202.0	172.0	182.0					7																	114282627		2203	4300	6503	SO:0001589	frameshift_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282627delA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.938delA	7.37:g.114282627delA	ENSP00000377132:p.His314fs					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Frame_Shift_Del_p.H338fs|FOXP2_uc003vha.2_Frame_Shift_Del_p.H221fs|FOXP2_uc011kmu.1_Frame_Shift_Del_p.H330fs|FOXP2_uc011kmv.1_Frame_Shift_Del_p.H312fs|FOXP2_uc010ljz.1_Frame_Shift_Del_p.H221fs|FOXP2_uc003vgx.2_Frame_Shift_Del_p.H313fs|FOXP2_uc003vhd.2_Frame_Shift_Del_p.H313fs|FOXP2_uc003vhc.2_Frame_Shift_Del_p.H338fs	p.H313fs	NM_014491	NP_055306	O15409	FOXP2_HUMAN			7	1312	+			313					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Frame_Shift_Del	DEL	ENST00000393494.2	37	c.938delA	CCDS5760.1																																																																																				0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		18	161	NA	NA	NA	NA	NA	18	161	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	120382616	120382616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:120382616delC	ENST00000331113.4	+	4	2392	c.1427delC	c.(1426-1428)accfs	p.T476fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	476	Mediates dendritic targeting. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGCTTTGAAACCCAGCACCAC	0.453																																							uc003vjj.1		NA																	0		p.T476T(1)		ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1426-1428)ACCfs		potassium voltage-gated channel, Shal-related							137.0	132.0	133.0					7																	120382616		2203	4300	6503	SO:0001589	frameshift_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120382616delC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1427delC	7.37:g.120382616delC	ENSP00000333496:p.Thr476fs						p.T476fs	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			4	2392	+	all_neural(327;0.117)		476			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Frame_Shift_Del	DEL	ENST00000331113.4	37	c.1427delC	CCDS5776.1																																																																																				0.453	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		24	141	NA	NA	NA	NA	NA	24	141	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618211	77618211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77618211delG	ENST00000521891.2	+	2	2336	c.1888delG	c.(1888-1890)ggtfs	p.G630fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	630					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)			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)			GTCTCTTGGTGGTCATATGAC	0.527										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1888-1890)GGTfs		zinc finger homeodomain 4							88.0	91.0	90.0					8																	77618211		2009	4202	6211	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618211delG		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.1888delG	8.37:g.77618211delG	ENSP00000430497:p.Gly630fs	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Frame_Shift_Del_p.G630fs|ZFHX4_uc003yau.1_Frame_Shift_Del_p.G630fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.G630fs	p.G630fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2275	+			630			C2H2-type 1.		G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.1888delG	CCDS47878.2																																																																																				0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	50	NA	NA	NA	NA	NA	23	50	---	---	---	---
