#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
TNFRSF9	3604	broad.mit.edu	37	1	7993221	7993221	+	Splice_Site	SNP	C	C	G	rs139075597		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:7993221C>G	ENST00000377507.3	-	7	846		c.e7+1			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GTTAATCTTACGTTGTTTGAA	0.368																																							uc001aot.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.e7+1		tumor necrosis factor receptor superfamily,							52.0	52.0	52.0					1																	7993221		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7993221C>G	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.679+1G>C	1.37:g.7993221C>G							p.P227_splice	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	7	807	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000377507.3	37	c.679_splice	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854506	0.51376	.	.	ENSG00000049249	ENST00000377507	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6329	0.56667	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFRSF9	7915808	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.233000	0.51311	2.445000	0.82738	0.563000	0.77884	.		0.368	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Intron	3	34	0	0	0	0.004672	0	3	34				
MTOR	2475	broad.mit.edu	37	1	11297961	11297961	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:11297961C>T	ENST00000361445.4	-	13	2223	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	716					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.G716D(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACTGAGTCGGCCCACAGTGCA	0.572																																							uc001asd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2146-2148)GGC>GAC		FK506 binding protein 12-rapamycin associated							92.0	76.0	81.0					1																	11297961		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297961C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2147G>A	1.37:g.11297961C>T	ENSP00000354558:p.Gly716Asp						p.G716D	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2268	-			716					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2147G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200385	0.94997	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.38077	1.16	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.91717	3.235	0.80722	D	1	D	0.63880	0.993	P	0.57371	0.819	T	0.74272	-0.3719	10	0.87932	D	0	-5.2129	19.8344	0.96650	0.0:1.0:0.0:0.0	.	716	P42345	MTOR_HUMAN	D	716	ENSP00000354558:G716D	ENSP00000354558:G716D	G	-	2	0	MTOR	11220548	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.395000	0.79876	2.696000	0.92011	0.561000	0.74099	GGC		0.572	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	73	0	0	0	0.009096	0	4	73				
UBR4	23352	broad.mit.edu	37	1	19482030	19482030	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:19482030A>C	ENST00000375254.3	-	43	6232	c.6205T>G	c.(6205-6207)Tac>Gac	p.Y2069D	UBR4_ENST00000375226.2_Missense_Mutation_p.Y2069D|UBR4_ENST00000375217.2_Missense_Mutation_p.Y2069D|UBR4_ENST00000375267.2_Missense_Mutation_p.Y2069D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2069					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y2069D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTATAGATGTACCCAGCCGAA	0.433																																							uc001bbi.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(6205-6207)TAC>GAC		retinoblastoma-associated factor 600							99.0	90.0	93.0					1																	19482030		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19482030A>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6205T>G	1.37:g.19482030A>C	ENSP00000364403:p.Tyr2069Asp					UBR4_uc001bbl.1_Missense_Mutation_p.Y6D|UBR4_uc001bbm.1_Missense_Mutation_p.Y1280D	p.Y2069D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	43	6209	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2069					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.6205T>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895468	0.72639	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;3.31	5.14	2.81	0.32909	.	0.068317	0.64402	D	0.000010	T	0.34542	0.0901	M	0.70595	2.14	0.80722	D	1	D;B	0.76494	0.999;0.164	D;B	0.71656	0.974;0.027	T	0.03335	-1.1047	10	0.72032	D	0.01	.	6.9594	0.24590	0.7944:0.0:0.0722:0.1334	.	2069;2069	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	D	2069;2069;2069;2069;779;1285	ENSP00000364403:Y2069D;ENSP00000364416:Y2069D;ENSP00000364365:Y2069D;ENSP00000364374:Y2069D;ENSP00000404897:Y779D	ENSP00000364365:Y2069D	Y	-	1	0	UBR4	19354617	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.705000	0.61838	0.420000	0.25954	0.528000	0.53228	TAC		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	81	0	0	0	0.006214	0	8	81				
CELA3A	10136	broad.mit.edu	37	1	22333950	22333950	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:22333950G>T	ENST00000290122.3	+	6	603	c.584G>T	c.(583-585)gGt>gTt	p.G195V		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.G195V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AACTGGTGGGGTTCCACCGTG	0.597																																							uc001bfl.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(583-585)GGT>GTT		elastase 3A, pancreatic preproprotein							88.0	85.0	86.0					1																	22333950		2197	4300	6497	SO:0001583	missense	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22333950G>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.584G>T	1.37:g.22333950G>T	ENSP00000290122:p.Gly195Val						p.G195V	NM_005747	NP_005738	P09093	CEL3A_HUMAN			6	603	+			195			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.584G>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561938	0.45590	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.89485	-2.52;-2.52	3.71	3.71	0.42584	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92485	0.7614	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92987	0.6411	9	0.72032	D	0.01	-47.551	13.0873	0.59149	0.0:0.0:1.0:0.0	.	195	P09093	CEL3A_HUMAN	V	195;3	ENSP00000290122:G195V;ENSP00000383130:G3V	ENSP00000290122:G195V	G	+	2	0	CELA3A	22206537	1.000000	0.71417	0.929000	0.37066	0.031000	0.12232	9.109000	0.94291	1.900000	0.55004	0.400000	0.26472	GGT		0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		15	45	1	0	8.60227e-14	0.004007	1.15759e-13	15	45				
NIPAL3	57185	broad.mit.edu	37	1	24786969	24786969	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:24786969A>G	ENST00000374399.4	+	10	1230		c.e10-1		NIPAL3_ENST00000003912.3_Splice_Site|NIPAL3_ENST00000339255.2_Splice_Site	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3							integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTGCTGCTGCAGGTGCAATAT	0.473																																							uc001bjh.2		NA																	1	Unknown(1)		lung(1)		0						c.e10-2		NIPA-like domain containing 3							154.0	132.0	139.0					1																	24786969		2203	4300	6503	SO:0001630	splice_region_variant	57185					integral to membrane		g.chr1:24786969A>G	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.863-1A>G	1.37:g.24786969A>G						NIPAL3_uc001bjg.2_Splice_Site_p.G288_splice|NIPAL3_uc009vrc.2_Splice_Site_p.G206_splice|NIPAL3_uc001bji.2_Splice_Site_p.R96_splice	p.G288_splice	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			10	1270	+								A2A298|Q6MZT9|Q9BVE6	Splice_Site	SNP	ENST00000374399.4	37	c.863_splice	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906517	0.52333	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255;ENST00000432012	.	.	.	5.44	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4235	0.55534	0.8595:0.1405:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPAL3	24659556	1.000000	0.71417	0.548000	0.28192	0.190000	0.23558	8.548000	0.90669	0.862000	0.35528	0.533000	0.62120	.		0.473	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	Intron	8	50	0	0	0	0.004482	0	8	50				
SYF2	25949	broad.mit.edu	37	1	25555610	25555610	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:25555610T>G	ENST00000236273.4	-	3	162	c.137A>C	c.(136-138)gAa>gCa	p.E46A	SYF2_ENST00000476231.1_5'Flank|SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	46					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E46A(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTACGAGCTTCATTCTAAAA	0.383																																							uc001bjt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GAA>GCA		SYF2 homolog, RNA splicing factor isoform 1							82.0	84.0	83.0					1																	25555610		2203	4298	6501	SO:0001583	missense	25949					catalytic step 2 spliceosome		g.chr1:25555610T>G	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.137A>C	1.37:g.25555610T>G	ENSP00000236273:p.Glu46Ala					SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Missense_Mutation_p.E46A	p.E46A	NM_015484	NP_056299	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	3	192	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	46					Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	c.137A>C	CCDS259.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745797	0.89663	.	.	ENSG00000117614	ENST00000236273	T	0.50277	0.75	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.80028	2.48	0.80722	D	1	D;P	0.76494	0.999;0.852	D;B	0.65573	0.936;0.287	T	0.69146	-0.5222	10	0.38643	T	0.18	-10.5838	14.6477	0.68772	0.0:0.0:0.0:1.0	.	46;46	B4E0Y8;O95926	.;SYF2_HUMAN	A	46	ENSP00000236273:E46A	ENSP00000236273:E46A	E	-	2	0	SYF2	25428197	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.474000	0.81024	2.194000	0.70268	0.533000	0.62120	GAA		0.383	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		29	68	0	0	0	0.005443	0	29	68				
IFI6	2537	broad.mit.edu	37	1	27994737	27994737	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:27994737C>G	ENST00000361157.6	-	4	425	c.298G>C	c.(298-300)Ggg>Cgg	p.G100R	IFI6_ENST00000362020.4_Splice_Site_p.G104R|IFI6_ENST00000339145.4_Splice_Site_p.G108R|RP11-288L9.4_ENST00000430683.1_RNA	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	100					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.G100R(1)		lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCACTCACCGAGGCTCTGC	0.597																																							uc001boo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)GGG>CGG		interferon, alpha-inducible protein 6 isoform a							5.0	6.0	6.0					1																	27994737		2081	4114	6195	SO:0001630	splice_region_variant	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27994737C>G	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.298+1G>C	1.37:g.27994737C>G						IFI6_uc001bon.1_Missense_Mutation_p.G108R|IFI6_uc001bop.1_Missense_Mutation_p.G104R	p.G100R	NM_002038	NP_002029	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	421	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	100					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.298G>C	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169247	0.78339	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.68624	-0.34;-0.34;-0.34	3.81	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.91140	3.18	0.43683	D	0.996128	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82335	-0.0508	9	.	.	.	.	7.26	0.26197	0.0:0.8752:0.0:0.1248	.	104;100;108	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	R	100;108;104	ENSP00000354736:G100R;ENSP00000342513:G108R;ENSP00000355152:G104R	.	G	-	1	0	IFI6	27867324	0.010000	0.17322	0.752000	0.31206	0.502000	0.33828	-0.117000	0.10708	0.939000	0.37446	0.655000	0.94253	GGG		0.597	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873	Missense_Mutation	3	2	0	0	0	0.009096	0	3	2				
PTPRU	10076	broad.mit.edu	37	1	29587414	29587414	+	Splice_Site	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:29587414A>C	ENST00000345512.3	+	7	1272	c.1143A>C	c.(1141-1143)gcA>gcC	p.A381A	PTPRU_ENST00000323874.8_Splice_Site_p.A381A|PTPRU_ENST00000460170.2_Splice_Site_p.A381A|PTPRU_ENST00000356870.3_Splice_Site_p.A381A|PTPRU_ENST00000373779.3_Splice_Site_p.A381A|PTPRU_ENST00000428026.2_Splice_Site_p.A381A	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A381A(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCAAATGCGCAGGTGGGTGCA	0.652																																							uc001bru.2		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(1141-1143)GCA>GCC		protein tyrosine phosphatase, receptor type, U							20.0	22.0	21.0					1																	29587414		2181	4267	6448	SO:0001630	splice_region_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587414A>C	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1144+1A>C	1.37:g.29587414A>C						PTPRU_uc001brv.2_Silent_p.A381A|PTPRU_uc001brw.2_Silent_p.A381A|PTPRU_uc009vtq.2_Silent_p.A381A|PTPRU_uc009vtr.2_Silent_p.A381A	p.A381A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1253	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	381			Extracellular (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.1143A>C	CCDS334.1																																																																																				0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		Silent	11	20	0	0	0	0.000978	0	11	20				
PUM1	9698	broad.mit.edu	37	1	31532281	31532281	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:31532281G>C	ENST00000257075.5	-	2	226	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	PUM1_ENST00000373747.3_Missense_Mutation_p.Q45E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q81E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q45E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q45E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q45E|PUM1_ENST00000373742.2_Missense_Mutation_p.Q81E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q45E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	45					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q45E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCTGCGCTTGCGACCCTGTT	0.552																																							uc001bsi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(133-135)CAA>GAA		pumilio 1 isoform 2							78.0	79.0	79.0					1																	31532281		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31532281G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.133C>G	1.37:g.31532281G>C	ENSP00000257075:p.Gln45Glu					PUM1_uc001bsh.1_Missense_Mutation_p.Q45E|PUM1_uc001bsj.1_Missense_Mutation_p.Q45E|PUM1_uc010oga.1_Missense_Mutation_p.Q45E|PUM1_uc001bsk.1_Missense_Mutation_p.Q81E|PUM1_uc010ogb.1_Missense_Mutation_p.Q81E	p.Q45E	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	2	246	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	45					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.133C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.00|17.00	3.277943|3.277943	0.59758|0.59758	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952;ENST00000531867	.|T;T;T;T;T;T;T;T	.|0.18657	.|2.21;2.33;2.59;2.59;2.58;2.58;2.49;2.2	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.115830	.|0.64402	.|D	.|0.000014	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.22421|0.22421	0.69|0.69	0.26068|0.26068	N|N	0.981264|0.981264	.|B;B;B;B;B;B	.|0.27656	.|0.116;0.116;0.116;0.184;0.116;0.116	.|B;B;B;B;B;B	.|0.21708	.|0.016;0.016;0.016;0.036;0.016;0.016	T|T	0.10730|0.10730	-1.0617|-1.0617	5|10	.|0.38643	.|T	.|0.18	-4.4347|-4.4347	18.9209|18.9209	0.92525|0.92525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|81;45;81;45;45;45	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0	.|.;.;.;.;PUM1_HUMAN;.	G|E	61|45;45;45;45;45;45;81;45;81;45;45	.|ENSP00000400141:Q45E;ENSP00000257075:Q45E;ENSP00000362852:Q45E;ENSP00000391723:Q45E;ENSP00000401777:Q45E;ENSP00000362846:Q81E;ENSP00000399440:Q45E;ENSP00000362847:Q81E	.|ENSP00000257075:Q45E	A|Q	-|-	2|1	0|0	PUM1|PUM1	31304868|31304868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.717000|5.717000	0.68446|0.68446	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.552	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			6	92	0	0	0	0.001168	0	6	92				
ZNF362	149076	broad.mit.edu	37	1	33760575	33760575	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:33760575C>T	ENST00000539719.1	+	7	1116	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ZNF362_ENST00000373428.5_Missense_Mutation_p.P316S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P316S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTGCCCACATCCTGGCTGCGA	0.622											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(162;1431 2676 35353 38425)	Pancreas(162;1431 2676 35353 38425)	uc001bxc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(946-948)CCT>TCT		zinc finger protein 362							116.0	93.0	101.0					1																	33760575		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33760575C>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.946C>T	1.37:g.33760575C>T	ENSP00000446335:p.Pro316Ser		OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	842		p.P316S	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			7	1116	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	316			C2H2-type 4.		Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.946C>T	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489833	0.84962	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.34667	1.35;1.35	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.244520	0.05842	N	0.619480	T	0.52224	0.1721	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30794	-0.9966	10	0.49607	T	0.09	-7.6292	14.2159	0.65792	0.0:1.0:0.0:0.0	.	316	Q5T0B9	ZN362_HUMAN	S	316	ENSP00000446335:P316S;ENSP00000362527:P316S	ENSP00000362527:P316S	P	+	1	0	ZNF362	33533162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.682000	0.68182	2.200000	0.70718	0.462000	0.41574	CCT		0.622	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		10	28	0	0	0	0.008291	0	10	28				
CSMD2	114784	broad.mit.edu	37	1	34090212	34090212	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:34090212C>T	ENST00000373380.1	-	14	2371	c.2151G>A	c.(2149-2151)agG>agA	p.R717R	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Silent_p.R1844R|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1804	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1804R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGGTGCCCCTGCGCTCTG	0.642																																							uc001bxn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(5410-5412)AGG>AGA		CUB and Sushi multiple domains 2							120.0	99.0	106.0					1																	34090212		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090212C>T	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	ENST00000373380.1:c.2151G>A	1.37:g.34090212C>T						CSMD2_uc001bxm.1_Silent_p.R1844R|CSMD2_uc001bxo.1_Silent_p.R717R	p.R1804R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			35	5441	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1804			CUB 11.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5412G>A																																																																																					0.642	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		5	65	0	0	0	0.000602	0	5	65				
GRIK3	2899	broad.mit.edu	37	1	37356572	37356572	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:37356572A>T	ENST00000373091.3	-	2	257	c.241T>A	c.(241-243)Tat>Aat	p.Y81N	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y81N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	81					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.Y81N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTATGTCATAGGTCAAGGTT	0.542																																							uc001caz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(241-243)TAT>AAT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						291.0	227.0	248.0					1																	37356572		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356572A>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.241T>A	1.37:g.37356572A>T	ENSP00000362183:p.Tyr81Asn					GRIK3_uc001cba.1_Missense_Mutation_p.Y81N	p.Y81N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	376	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	81			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.241T>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585527	0.86748	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.84442	-1.85;-1.85	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91543	0.7329	M	0.72479	2.2	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.77004	0.97;0.989	D	0.91923	0.5549	10	0.54805	T	0.06	.	15.8393	0.78831	1.0:0.0:0.0:0.0	.	81;81	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	81	ENSP00000362183:Y81N;ENSP00000362185:Y81N	ENSP00000362183:Y81N	Y	-	1	0	GRIK3	37129159	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.331000	0.96430	2.136000	0.66102	0.528000	0.53228	TAT		0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		36	178	0	0	0	0.003755	0	36	178				
CTPS1	1503	broad.mit.edu	37	1	41474345	41474345	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:41474345G>A	ENST00000372621.4	+	15	1916	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	CTPS1_ENST00000541520.1_Missense_Mutation_p.D239N|CTPS1_ENST00000372616.1_Missense_Mutation_p.D470N	NM_001905.2	NP_001896.2			CTP synthase 1									p.D470N(2)		endometrium(3)|lung(10)	13						ACTCTATGGAGACGCAGACTA	0.473																																							uc001cgk.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1408-1410)GAC>AAC		CTP synthase	L-Glutamine(DB00130)						110.0	109.0	110.0					1																	41474345		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41474345G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1408G>A	1.37:g.41474345G>A	ENSP00000361704:p.Asp470Asn					CTPS_uc010ojo.1_Missense_Mutation_p.D239N|CTPS_uc001cgl.3_Missense_Mutation_p.D470N|CTPS_uc010ojq.1_Missense_Mutation_p.D314N|CTPS_uc009vwe.2_Intron	p.D470N	NM_001905	NP_001896	P17812	PYRG1_HUMAN			15	1916	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	470			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1408G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	7.953	0.745361	0.15710	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.89485	-2.52;-2.52;-2.52	5.34	5.34	0.76211	Glutamine amidotransferase type 1 (2);	0.086476	0.85682	D	0.000000	T	0.76212	0.3956	N	0.05441	-0.05	0.58432	D	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.71454	-0.4588	10	0.02654	T	1	.	16.8925	0.86091	0.0:0.0:1.0:0.0	.	470	P17812	PYRG1_HUMAN	N	470;239;470	ENSP00000361704:D470N;ENSP00000442646:D239N;ENSP00000361699:D470N	ENSP00000361699:D470N	D	+	1	0	CTPS	41246932	1.000000	0.71417	0.994000	0.49952	0.651000	0.38670	7.001000	0.76297	2.653000	0.90120	0.655000	0.94253	GAC		0.473	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		8	116	0	0	0	0.004482	0	8	116				
ZSWIM5	57643	broad.mit.edu	37	1	45506070	45506070	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:45506070T>A	ENST00000359600.5	-	7	1955	c.1750A>T	c.(1750-1752)Aag>Tag	p.K584*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	584						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.K584*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATACCTTTCTTCTGATGCTTG	0.488																																							uc001cnd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1750-1752)AAG>TAG		zinc finger, SWIM domain containing 5							106.0	97.0	100.0					1																	45506070		1872	4112	5984	SO:0001587	stop_gained	57643						zinc ion binding	g.chr1:45506070T>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1750A>T	1.37:g.45506070T>A	ENSP00000352614:p.Lys584*						p.K584*	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			7	1978	-	Acute lymphoblastic leukemia(166;0.155)		584					Q5SXQ9	Nonsense_Mutation	SNP	ENST00000359600.5	37	c.1750A>T	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	T	40	7.937153	0.98571	.	.	ENSG00000162415	ENST00000359600	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4875	14.7949	0.69870	0.0:0.0:0.0:1.0	.	.	.	.	X	584	.	ENSP00000352614:K584X	K	-	1	0	ZSWIM5	45278657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.042000	0.60477	0.533000	0.62120	AAG		0.488	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		13	113	0	0	0	0.00245	0	13	113				
STIL	6491	broad.mit.edu	37	1	47746387	47746387	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:47746387T>A	ENST00000360380.3	-	13	2106	c.1743A>T	c.(1741-1743)tcA>tcT	p.S581S	STIL_ENST00000243182.6_Silent_p.S581S|STIL_ENST00000371877.3_Silent_p.S581S|STIL_ENST00000396221.2_Silent_p.S581S|STIL_ENST00000337817.5_Silent_p.S581S	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	581					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S581S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGTCTTCCTGAATTATGGG	0.438																																							uc001crc.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(1741-1743)TCA>TCT		SCL/TAL1 interrupting locus isoform 2							115.0	123.0	121.0					1																	47746387		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746387T>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1743A>T	1.37:g.47746387T>A						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S534S|STIL_uc010omo.1_Silent_p.S581S|STIL_uc001crd.1_Silent_p.S581S|STIL_uc001cre.1_Silent_p.S581S|STIL_uc001crf.1_Silent_p.S194S|STIL_uc001crg.1_Silent_p.S534S	p.S581S	NM_003035	NP_003026	Q15468	STIL_HUMAN			12	1898	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	581					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.1743A>T	CCDS548.1																																																																																				0.438	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		37	105	0	0	0	0.003755	0	37	105				
DAB1	1600	broad.mit.edu	37	1	57480745	57480745	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57480745G>T	ENST00000371231.1	-	13	1388	c.1354C>A	c.(1354-1356)Cag>Aag	p.Q452K	DAB1_ENST00000439789.2_Missense_Mutation_p.Q333K|DAB1_ENST00000371236.2_Missense_Mutation_p.Q419K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q417K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Q419K|DAB1_ENST00000414851.2_Missense_Mutation_p.Q401K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	452					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.Q419K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGGCCATCTGGAAATCCTTA	0.597																																							uc001cys.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1255-1257)CAG>AAG		disabled homolog 1							75.0	77.0	76.0					1																	57480745		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480745G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1354C>A	1.37:g.57480745G>T	ENSP00000360275:p.Gln452Lys					DAB1_uc001cyt.1_Missense_Mutation_p.Q417K|DAB1_uc001cyq.1_Missense_Mutation_p.Q417K|DAB1_uc001cyr.1_Missense_Mutation_p.Q333K|DAB1_uc009vzw.1_Missense_Mutation_p.Q401K|DAB1_uc009vzx.1_Missense_Mutation_p.Q419K	p.Q419K	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1929	-			452					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1255C>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.736923	0.89482	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.35;-0.39;0.78;-0.23	5.54	5.54	0.83059	.	0.115830	0.64402	D	0.000006	D	0.82504	0.5051	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.991;0.997;0.989;0.997	D;D;D;D;D	0.77557	0.958;0.977;0.99;0.969;0.99	T	0.83210	-0.0074	10	0.72032	D	0.01	-37.1852	19.6787	0.95950	0.0:0.0:1.0:0.0	.	401;452;419;333;417	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	K	419;419;419;417;401;333;452	ENSP00000360280:Q419K;ENSP00000360278:Q419K;ENSP00000395296:Q417K;ENSP00000387581:Q401K;ENSP00000409328:Q333K;ENSP00000360275:Q452K	ENSP00000360275:Q452K	Q	-	1	0	DAB1	57253333	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.263000	0.95617	2.890000	0.99128	0.650000	0.86243	CAG		0.597	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		9	51	1	0	3.09899e-07	0.004482	3.65672e-07	9	51				
DAB1	1600	broad.mit.edu	37	1	57480986	57480986	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57480986G>A	ENST00000371231.1	-	13	1147	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	DAB1_ENST00000439789.2_Silent_p.P252P|DAB1_ENST00000371236.2_Silent_p.P338P|DAB1_ENST00000420954.2_Silent_p.P336P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.P338P|DAB1_ENST00000414851.2_Silent_p.P320P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	371					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P338P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCATGCGATGGGCTGAGCCC	0.662																																							uc001cys.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1012-1014)CCC>CCT		disabled homolog 1							41.0	43.0	42.0					1																	57480986		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480986G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1113C>T	1.37:g.57480986G>A						DAB1_uc001cyt.1_Silent_p.P336P|DAB1_uc001cyq.1_Silent_p.P336P|DAB1_uc001cyr.1_Silent_p.P252P|DAB1_uc009vzw.1_Silent_p.P320P|DAB1_uc009vzx.1_Silent_p.P338P	p.P338P	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1688	-			371					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1014C>T																																																																																					0.662	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		23	81	0	0	0	0.00278	0	23	81				
DAB1	1600	broad.mit.edu	37	1	57528586	57528586	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57528586A>G	ENST00000371231.1	-	8	728	c.694T>C	c.(694-696)Tat>Cat	p.Y232H	DAB1_ENST00000439789.2_Missense_Mutation_p.Y113H|DAB1_ENST00000371236.2_Missense_Mutation_p.Y232H|DAB1_ENST00000420954.2_Missense_Mutation_p.Y197H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Y232H|DAB1_ENST00000414851.2_Missense_Mutation_p.Y197H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	232					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.Y232H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCACATCATAAACACCTTCC	0.448																																							uc001cys.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(694-696)TAT>CAT		disabled homolog 1							231.0	192.0	205.0					1																	57528586		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57528586A>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.694T>C	1.37:g.57528586A>G	ENSP00000360275:p.Tyr232His					DAB1_uc001cyt.1_Missense_Mutation_p.Y232H|DAB1_uc001cyq.1_Missense_Mutation_p.Y197H|DAB1_uc001cyr.1_Missense_Mutation_p.Y113H|DAB1_uc009vzw.1_Missense_Mutation_p.Y197H|DAB1_uc009vzx.1_Missense_Mutation_p.Y232H	p.Y232H	NM_021080	NP_066566	O75553	DAB1_HUMAN			11	1368	-			232					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.694T>C		.	.	.	.	.	.	.	.	.	.	A	24.8	4.571374	0.86542	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102	T;T;T;T;T;T;T;T	0.71579	0.86;0.86;0.84;0.81;1.85;0.48;0.79;-0.58	5.5	5.5	0.81552	.	0.061993	0.64402	D	0.000002	T	0.77671	0.4165	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;B;D	0.71674	0.998;0.995;0.997;0.207;0.998	D;D;D;B;D	0.68483	0.943;0.929;0.943;0.413;0.958	T	0.74575	-0.3620	10	0.27785	T	0.31	-17.9671	15.7759	0.78214	1.0:0.0:0.0:0.0	.	197;232;232;113;197	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	232;232;232;197;197;113;232;113;197	ENSP00000360280:Y232H;ENSP00000360278:Y232H;ENSP00000395296:Y197H;ENSP00000387581:Y197H;ENSP00000409328:Y113H;ENSP00000360275:Y232H;ENSP00000360276:Y113H;ENSP00000329120:Y197H	ENSP00000329120:Y197H	Y	-	1	0	DAB1	57301174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.478000	0.90428	2.308000	0.77769	0.533000	0.62120	TAT		0.448	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		16	40	0	0	0	0.003163	0	16	40				
JAK1	3716	broad.mit.edu	37	1	65300289	65300289	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:65300289T>A	ENST00000342505.4	-	25	3669	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1141	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S1141C(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCTGAAAGCTTGTCCGATTG	0.338			Mis		ALL																																		uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(3421-3423)AGC>TGC		janus kinase 1							110.0	105.0	107.0					1																	65300289		1807	4073	5880	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300289T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3421A>T	1.37:g.65300289T>A	ENSP00000343204:p.Ser1141Cys					JAK1_uc009wam.1_Missense_Mutation_p.S1129C|JAK1_uc009wal.1_Missense_Mutation_p.S318C	p.S1141C	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3670	-			1141			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3421A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584175	0.65992	.	.	ENSG00000162434	ENST00000342505	D	0.90955	-2.76	5.01	2.51	0.30379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85314	0.5668	M	0.75085	2.285	0.29485	N	0.856022	P	0.40909	0.732	B	0.41860	0.368	T	0.78907	-0.2019	9	0.62326	D	0.03	-1.2859	10.2532	0.43381	0.2626:0.0:0.0:0.7374	.	1141	P23458	JAK1_HUMAN	C	1141	ENSP00000343204:S1141C	ENSP00000343204:S1141C	S	-	1	0	JAK1	65072877	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.134000	0.42102	0.898000	0.36418	0.528000	0.53228	AGC		0.338	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		17	55	0	0	0	0.008871	0	17	55				
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:67243129C>T	ENST00000282670.2	+	5	660	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363																																							uc001dcv.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(532-534)CTT>TTT		Tctex1 domain containing 1							96.0	100.0	99.0					1																	67243129		2203	4299	6502	SO:0001583	missense	200132							g.chr1:67243129C>T	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.532C>T	1.37:g.67243129C>T	ENSP00000282670:p.Leu178Phe					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.L178F	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			5	663	+			178					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.532C>T	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	0.693	-0.793706	0.02862	.	.	ENSG00000152760	ENST00000282670	T	0.33865	1.39	5.93	0.252	0.15545	.	0.507169	0.23160	N	0.051244	T	0.02342	0.0072	N	0.00966	-1.09	0.20563	N	0.999885	B	0.02656	0.0	B	0.06405	0.002	T	0.45775	-0.9238	10	0.07644	T	0.81	-7.5846	6.5478	0.22416	0.0:0.2592:0.1213:0.6195	.	178	Q8N7M0	TC1D1_HUMAN	F	178	ENSP00000282670:L178F	ENSP00000282670:L178F	L	+	1	0	TCTEX1D1	67015717	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	4.305000	0.59110	0.125000	0.18397	-0.175000	0.13238	CTT		0.363	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		17	76	0	0	0	0.00499	0	17	76				
GNG12	55970	broad.mit.edu	37	1	68173367	68173367	+	Start_Codon_SNP	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:68173367C>G	ENST00000370982.3	-	3	202	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	1					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)	p.M1I(1)		lung(3)	3						TTTTGCTGGACATCTTCAATT	0.343																																							uc001dea.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATC		G-protein gamma-12 subunit precursor							227.0	224.0	225.0					1																	68173367		2203	4300	6503	SO:0001582	initiator_codon_variant	55970				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:68173367C>G	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.3G>C	1.37:g.68173367C>G	ENSP00000360021:p.Met1Ile						p.M1I	NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN			3	195	-			1					Q69YP5|Q9BRV5	Missense_Mutation	SNP	ENST00000370982.3	37	c.3G>C	CCDS30749.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482522	0.84747	.	.	ENSG00000172380	ENST00000370982	T	0.47177	0.85	5.97	5.97	0.96955	G-protein gamma domain (1);	0.086754	0.85682	D	0.000000	T	0.56321	0.1977	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.54636	-0.8264	9	0.54805	T	0.06	-1.2657	17.3508	0.87323	0.0:1.0:0.0:0.0	.	1	Q9UBI6	GBG12_HUMAN	I	1	ENSP00000360021:M1I	ENSP00000360021:M1I	M	-	3	0	GNG12	67945955	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.183000	0.72002	2.838000	0.97847	0.561000	0.74099	ATG		0.343	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2		Missense_Mutation	22	194	0	0	0	0.002299	0	22	194				
LRRC7	57554	broad.mit.edu	37	1	70291429	70291429	+	Splice_Site	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:70291429A>T	ENST00000035383.5	+	3	337		c.e3-1		LRRC7_ENST00000370958.1_Splice_Site|LRRC7_ENST00000310961.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.?(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCACATTTTAGGTGTACAAG	0.269																																							uc001dep.2		NA																	2	Unknown(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.e3-2		leucine rich repeat containing 7							67.0	65.0	66.0					1																	70291429		2201	4279	6480	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70291429A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.308-1A>T	1.37:g.70291429A>T						LRRC7_uc001deo.1_Splice_Site_p.G141_splice|LRRC7_uc009wbg.2_Splice_Site	p.G103_splice	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			3	338	+								Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000035383.5	37	c.308_splice	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305011	0.81247	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6159	0.68547	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC7	70064017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.423000	0.90264	2.114000	0.64651	0.533000	0.62120	.		0.269	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Intron	3	41	0	0	0	0.004672	0	3	41				
ELTD1	64123	broad.mit.edu	37	1	79404923	79404923	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:79404923G>T	ENST00000370742.3	-	4	409	c.346C>A	c.(346-348)Cat>Aat	p.H116N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	116					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.H116N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTATCTAAATGGCAGTTTGCA	0.249																																							uc001diq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)CAT>AAT		EGF, latrophilin and seven transmembrane domain							40.0	40.0	40.0					1																	79404923		1780	4030	5810	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404923G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.346C>A	1.37:g.79404923G>T	ENSP00000359778:p.His116Asn						p.H116N	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	502	-			116			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.346C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942958	0.53079	.	.	ENSG00000162618	ENST00000370742	T	0.35789	1.29	6.07	0.659	0.17861	.	0.433319	0.27976	N	0.017097	T	0.16041	0.0386	M	0.65498	2.005	0.35910	D	0.831029	B	0.33413	0.411	B	0.35550	0.205	T	0.03259	-1.1055	9	.	.	.	.	5.6945	0.17847	0.4264:0.1675:0.4061:0.0	.	116	Q9HBW9	ELTD1_HUMAN	N	116	ENSP00000359778:H116N	.	H	-	1	0	ELTD1	79177511	0.995000	0.38212	0.912000	0.35992	0.887000	0.51463	0.371000	0.20450	-0.122000	0.11766	-0.225000	0.12378	CAT		0.249	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		14	35	1	0	2.61681e-11	0.00245	3.35568e-11	14	35				
COL24A1	255631	broad.mit.edu	37	1	86200648	86200648	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:86200648C>A	ENST00000370571.2	-	59	5149		c.e59-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAAACTCCAACTAATGTCATA	0.418																																							uc001dlj.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.e59-1		collagen, type XXIV, alpha 1 precursor							48.0	46.0	46.0					1																	86200648		1875	4125	6000	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86200648C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4783-1G>T	1.37:g.86200648C>A						COL24A1_uc001dli.2_Splice_Site_p.L710_splice|COL24A1_uc010osd.1_Splice_Site_p.L895_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	p.L1595_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	59	4825	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.4783_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576058	0.86645	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	85973236	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.638000	0.74309	2.836000	0.97738	0.655000	0.94253	.		0.418	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	13	23	1	0	0.00136819	0.001368	0.0014711	13	23				
VCAM1	7412	broad.mit.edu	37	1	101198042	101198042	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:101198042A>T	ENST00000294728.2	+	7	1695	c.1594A>T	c.(1594-1596)Atg>Ttg	p.M532L	VCAM1_ENST00000370115.1_Missense_Mutation_p.M333L|VCAM1_ENST00000347652.2_Missense_Mutation_p.M440L|VCAM1_ENST00000370119.4_Missense_Mutation_p.M470L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	532	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.M532L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTGTGAATATGACATGCTT	0.537																																							uc001dti.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1594-1596)ATG>TTG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						65.0	67.0	66.0					1																	101198042		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198042A>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1594A>T	1.37:g.101198042A>T	ENSP00000294728:p.Met532Leu					VCAM1_uc001dtj.2_Missense_Mutation_p.M440L|VCAM1_uc010ouj.1_Missense_Mutation_p.M470L	p.M532L	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1714	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	532			Ig-like C2-type 6.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1594A>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309771	0.23821	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.57	1.53	0.23141	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.374817	0.35739	N	0.003020	T	0.00815	0.0027	N	0.00504	-1.425	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.15870	0.007;0.014;0.013	T	0.46775	-0.9167	10	0.02654	T	1	-13.6817	6.8611	0.24067	0.5053:0.3579:0.0:0.1367	.	470;440;532	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	L	470;440;532;333	ENSP00000359137:M470L;ENSP00000304611:M440L;ENSP00000294728:M532L;ENSP00000359133:M333L	ENSP00000294728:M532L	M	+	1	0	VCAM1	100970630	0.050000	0.20438	0.944000	0.38274	0.724000	0.41520	0.176000	0.16782	0.419000	0.25927	0.533000	0.62120	ATG		0.537	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	67	0	0	0	0.006122	0	17	67				
S1PR1	1901	broad.mit.edu	37	1	101704852	101704852	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:101704852G>T	ENST00000305352.6	+	2	687	c.312G>T	c.(310-312)ttG>ttT	p.L104F	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	104					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.L104F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCTGCTCTTGTCTGGGGCCA	0.547											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dud.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(310-312)TTG>TTT		sphingosine-1-phosphate receptor 1							63.0	62.0	63.0					1																	101704852		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704852G>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.312G>T	1.37:g.101704852G>T	ENSP00000305416:p.Leu104Phe		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.L104F	p.L104F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	826	+			104			Helical; Name=2; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.312G>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642348	0.14451	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.73469	-0.75	5.78	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.59878	0.2226	L	0.52823	1.66	0.80722	D	1	B	0.26041	0.14	B	0.37346	0.247	T	0.64914	-0.6295	10	0.52906	T	0.07	.	8.4294	0.32748	0.0637:0.3128:0.524:0.0995	.	104	P21453	S1PR1_HUMAN	F	104	ENSP00000305416:L104F	ENSP00000305416:L104F	L	+	3	2	S1PR1	101477440	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.186000	0.32078	1.408000	0.46895	0.650000	0.86243	TTG		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		26	61	1	0	5.45024e-15	0.00333	7.47266e-15	26	61				
GNAT2	2780	broad.mit.edu	37	1	110146652	110146652	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:110146652G>T	ENST00000351050.3	-	7	981	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	265					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.V265V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGAAAGAGGACAATGGAAG	0.403																																							uc001dya.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(793-795)GTC>GTA		guanine nucleotide binding protein, alpha							84.0	80.0	81.0					1																	110146652		2203	4300	6503	SO:0001819	synonymous_variant	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110146652G>T	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.795C>A	1.37:g.110146652G>T							p.V265V	NM_005272	NP_005263	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	7	1008	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	265						Silent	SNP	ENST00000351050.3	37	c.795C>A	CCDS803.1																																																																																				0.403	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		11	58	1	0	2.27111e-07	0.001368	2.68348e-07	11	58				
RBM15	64783	broad.mit.edu	37	1	110882839	110882839	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:110882839G>A	ENST00000369784.3	+	1	1712	c.812G>A	c.(811-813)aGt>aAt	p.S271N	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.S271N|RBM15_ENST00000602849.1_Missense_Mutation_p.S271N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	271					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)	p.S271N(1)		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)		CCATCAGCCAGTGTGGTCGGG	0.597			T	MKL1	acute megakaryocytic leukemia																																		uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(811-813)AGT>AAT		RNA binding motif protein 15							66.0	73.0	71.0					1																	110882839		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882839G>A	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.812G>A	1.37:g.110882839G>A	ENSP00000358799:p.Ser271Asn					RBM15_uc001dzm.1_Missense_Mutation_p.S271N|uc001dzj.2_5'Flank	p.S271N	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	895	+		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)	271					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.812G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089646	0.20390	.	.	ENSG00000162775	ENST00000369784	T	0.19532	2.14	4.88	2.91	0.33838	.	0.583336	0.15626	N	0.252656	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.06405	0.002;0.001	T	0.39643	-0.9604	10	0.39692	T	0.17	-1.0525	8.7047	0.34347	0.0794:0.2776:0.643:0.0	.	271;271	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	271	ENSP00000358799:S271N	ENSP00000358799:S271N	S	+	2	0	RBM15	110684362	0.001000	0.12720	0.317000	0.25265	0.890000	0.51754	0.607000	0.24209	1.279000	0.44446	0.563000	0.77884	AGT		0.597	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		11	126	0	0	0	0.008291	0	11	126				
RSBN1	54665	broad.mit.edu	37	1	114310857	114310857	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:114310857G>C	ENST00000261441.5	-	5	1876	c.1813C>G	c.(1813-1815)Caa>Gaa	p.Q605E	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	605						nucleus (GO:0005634)		p.Q605E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCAAATTGTACAGCTTTC	0.403																																							uc001edq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1813-1815)CAA>GAA		round spermatid basic protein 1							80.0	78.0	79.0					1																	114310857		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114310857G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1813C>G	1.37:g.114310857G>C	ENSP00000261441:p.Gln605Glu					RSBN1_uc001edr.2_RNA	p.Q605E	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1849	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	605					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1813C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688728	0.68271	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.86	5.86	0.93980	.	0.052641	0.85682	D	0.000000	T	0.57666	0.2069	L	0.50333	1.59	0.49389	D	0.99978	P	0.40834	0.73	P	0.44394	0.448	T	0.60954	-0.7160	9	0.56958	D	0.05	-8.9001	20.1723	0.98160	0.0:0.0:1.0:0.0	.	605	Q5VWQ0	RSBN1_HUMAN	E	605	.	ENSP00000261441:Q605E	Q	-	1	0	RSBN1	114112380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.768000	0.95171	0.655000	0.94253	CAA		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		6	75	0	0	0	0.001168	0	6	75				
TBX15	6913	broad.mit.edu	37	1	119427738	119427739	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:119427738_119427739GG>TT	ENST00000369429.3	-	8	1434_1435	c.1425_1426CC>AA	c.(1423-1428)tcCCag>tcAAag	p.Q476K	TBX15_ENST00000207157.3_Missense_Mutation_p.Q370K			Q96SF7	TBX15_HUMAN	T-box 15	476					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q370K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TACTGAAACTGGGAAGTGGGAA	0.569																																							uc001ehl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1105-1110)TCCCAG>TCAAAG		T-box 15																																				SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427738_119427739GG>TT	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1425_1426delinsTT	1.37:g.119427738_119427739delinsTT	ENSP00000358437:p.Gln476Lys					TBX15_uc009whj.1_Missense_Mutation_p.Q194K	p.Q370K	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1422_1423	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	476					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	DNP	ENST00000369429.3	37	c.1107_1108CC>AA																																																																																					0.569	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		22	33	0	0	0	0.004672	0	22	33				
SEC22B	9554	broad.mit.edu	37	1	145109526	145109526	+	RNA	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145109526A>G	ENST00000453618.1	+	0	515							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CTCACCAGCTACATTATTGAG	0.378																																							uc001eml.1		NA																	0					0						c.(187-189)TAC>TGC		SEC22 vesicle trafficking protein homolog B							279.0	260.0	266.0					1																	145109526		1983	4181	6164			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109526A>G	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109526A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.Y63C	NM_004892	NP_004883	O75396	SC22B_HUMAN			5	328	+			63			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.188A>G																																																																																					0.378	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		9	400	0	0	0	0.004482	0	9	400				
NBPF10	100132406	broad.mit.edu	37	1	145293563	145293563	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145293563A>G	ENST00000369339.3	+	3	411	c.158A>G	c.(157-159)aAc>aGc	p.N53S	NBPF10_ENST00000342960.5_Missense_Mutation_p.N53S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	324						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.N53S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCCTGGCCAACCGACAGAAG	0.448																																							uc001end.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)AAC>AGC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293563A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.158A>G	1.37:g.145293563A>G	ENSP00000358345:p.Asn53Ser					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N53S|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.N53S	p.N53S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	193	+	all_hematologic(923;0.032)		53					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.158A>G		.	.	.	.	.	.	.	.	.	.	.	4.453	0.083916	0.08583	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03272	3.99	1.0	1.0	0.19881	.	.	.	.	.	T	0.01421	0.0046	L	0.55103	1.725	0.09310	N	1	B	0.26602	0.154	B	0.24006	0.05	T	0.43988	-0.9357	9	0.62326	D	0.03	.	4.332	0.11067	1.0:0.0:0.0:0.0	.	53	A8MQ30	.	S	53	ENSP00000345684:N53S	ENSP00000345684:N53S	N	+	2	0	NBPF10	144004920	0.191000	0.23288	0.069000	0.20011	0.006000	0.05464	0.912000	0.28597	0.717000	0.32145	0.102000	0.15555	AAC		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		28	533	0	0	0	0.00874	0	28	533				
HFE2	148738	broad.mit.edu	37	1	145416654	145416654	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145416654T>A	ENST00000336751.5	+	4	1237	c.999T>A	c.(997-999)aaT>aaA	p.N333K	HFE2_ENST00000475797.1_Missense_Mutation_p.N107K|HFE2_ENST00000357836.5_Missense_Mutation_p.N220K|HFE2_ENST00000497365.1_Missense_Mutation_p.N107K	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	333					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.N333K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGAGCGCAATCGTCGGGGAG	0.532																																							uc001eni.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(997-999)AAT>AAA		hemojuvelin isoform a precursor							115.0	104.0	108.0					1																	145416654		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416654T>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.999T>A	1.37:g.145416654T>A	ENSP00000337014:p.Asn333Lys					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.N107K|HFE2_uc001enk.2_Missense_Mutation_p.N220K|HFE2_uc001enl.2_Missense_Mutation_p.N107K	p.N333K	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			4	1324	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		333					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.999T>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	T	0.104	-1.148586	0.01714	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.18	-9.26	0.00662	Repulsive guidance molecule, C-terminal (1);	1.086140	0.06980	N	0.819670	T	0.38480	0.1042	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28004	-1.0057	10	0.05959	T	0.93	-8.4182	7.6586	0.28389	0.0909:0.5211:0.0922:0.2958	.	333	Q6ZVN8	RGMC_HUMAN	K	220;333;107;107	ENSP00000350495:N220K;ENSP00000337014:N333K;ENSP00000421820:N107K;ENSP00000425716:N107K	ENSP00000337014:N333K	N	+	3	2	HFE2	144128011	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-1.012000	0.03649	-1.493000	0.01835	0.533000	0.62120	AAT		0.532	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		33	42	0	0	0	0.004289	0	33	42				
GJA8	2703	broad.mit.edu	37	1	147381031	147381031	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:147381031C>G	ENST00000369235.1	+	1	949	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	GJA8_ENST00000240986.4_Missense_Mutation_p.Q317E			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	317					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.Q317E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGGGGCTACCAAGAGACACT	0.627																																					Melanoma(76;1255 1795 8195 52096)	Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(949-951)CAA>GAA		connexin 50							27.0	28.0	28.0					1																	147381031		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381031C>G	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.949C>G	1.37:g.147381031C>G	ENSP00000358238:p.Gln317Glu						p.Q317E	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	1012	+	all_hematologic(923;0.0276)		317			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.949C>G	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	1.079	-0.667580	0.03428	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	T;T	0.75260	-0.92;-0.92	4.95	3.97	0.46021	.	1.342070	0.05040	N	0.476123	T	0.28532	0.0706	N	0.08118	0	0.25728	N	0.985308	B	0.10296	0.003	B	0.06405	0.002	T	0.42816	-0.9429	10	0.02654	T	1	.	7.9952	0.30265	0.1474:0.5387:0.3139:0.0	.	317	P48165	CXA8_HUMAN	E	317	ENSP00000240986:Q317E;ENSP00000358238:Q317E	ENSP00000240986:Q317E	Q	+	1	0	GJA8	145847655	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	3.185000	0.50934	2.559000	0.86315	0.561000	0.74099	CAA		0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		6	34	0	0	0	0.001168	0	6	34				
FCGR1A	2209	broad.mit.edu	37	1	149761697	149761697	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:149761697T>G	ENST00000369168.4	+	5	701	c.647T>G	c.(646-648)tTg>tGg	p.L216W	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	216	Ig-like C2-type 3.				antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)	p.L216W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACAAAGTTGCTCTTGCAG	0.498																																							uc001esp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)TTG>TGG		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						20.0	24.0	23.0					1																	149761697		2184	4295	6479	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149761697T>G	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.647T>G	1.37:g.149761697T>G	ENSP00000358165:p.Leu216Trp					HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron	p.L216W	NM_000566	NP_000557	P12314	FCGR1_HUMAN			5	697	+	Breast(34;0.0124)|all_hematologic(923;0.127)		216			Extracellular (Potential).|Ig-like C2-type 3.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.647T>G	CCDS933.1	.	.	.	.	.	.	.	.	.	.	T	9.664	1.144879	0.21288	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.03553	3.89;3.89	3.46	2.34	0.29019	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	12.394200	0.00166	N	0.000003	T	0.04907	0.0132	M	0.94063	3.49	0.09310	N	0.999998	P	0.41008	0.735	B	0.39805	0.31	T	0.43621	-0.9380	10	0.87932	D	0	.	5.4355	0.16478	0.0:0.1292:0.0:0.8708	.	216	P12314	FCGR1_HUMAN	W	124;216	ENSP00000394279:L124W;ENSP00000358165:L216W	ENSP00000358165:L216W	L	+	2	0	FCGR1A	148028321	0.039000	0.19947	0.013000	0.15412	0.187000	0.23431	0.888000	0.28268	0.705000	0.31890	0.496000	0.49642	TTG		0.498	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		8	54	0	0	0	0.000978	0	8	54				
SEMA6C	10500	broad.mit.edu	37	1	151115074	151115074	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:151115074C>G	ENST00000341697.3	-	3	1715	c.24G>C	c.(22-24)atG>atC	p.M8I				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	8					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M8I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCAAGGGCATGAAGTGGG	0.637																																							uc001ewu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(22-24)ATG>ATC		semaphorin Y precursor							34.0	33.0	33.0					1																	151115074		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151115074C>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.24G>C	1.37:g.151115074C>G	ENSP00000344148:p.Met8Ile					SEMA6C_uc001ewv.2_Missense_Mutation_p.M8I|SEMA6C_uc001eww.2_Missense_Mutation_p.M8I|SEMA6C_uc010pcq.1_Missense_Mutation_p.M8I|SEMA6C_uc009wml.1_Intron	p.M8I	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	324	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		8					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.24G>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248568	0.39797	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.17370	2.28;2.5;2.3;2.28	4.69	4.69	0.59074	.	1.404310	0.04326	N	0.351604	T	0.07098	0.0180	L	0.29908	0.895	0.29037	N	0.885354	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.14144	-1.0483	10	0.40728	T	0.16	.	12.9978	0.58657	0.0:1.0:0.0:0.0	.	8;8;8;8	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	I	8	ENSP00000357910:M8I;ENSP00000357908:M8I;ENSP00000357909:M8I;ENSP00000344148:M8I	ENSP00000344148:M8I	M	-	3	0	SEMA6C	149381698	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.985000	0.29578	2.457000	0.83068	0.462000	0.41574	ATG		0.637	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		26	29	0	0	0	0.00333	0	26	29				
RFX5	5993	broad.mit.edu	37	1	151314767	151314767	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:151314767C>T	ENST00000290524.4	-	11	1924	c.1746G>A	c.(1744-1746)aaG>aaA	p.K582K	RFX5_ENST00000452513.2_Silent_p.K542K|RFX5_ENST00000368870.2_Silent_p.K582K|RFX5_ENST00000452671.2_Silent_p.K582K|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	582					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K582K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTACCTCTCCCTTTGCCAAAG	0.463																																							uc001exv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1744-1746)AAG>AAA		regulatory factor X, 5							137.0	126.0	130.0					1																	151314767		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151314767C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1746G>A	1.37:g.151314767C>T						RFX5_uc001exw.1_Silent_p.K582K|RFX5_uc009wmr.1_Silent_p.K582K|RFX5_uc010pcx.1_Silent_p.K542K	p.K582K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1960	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		582					B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.1746G>A	CCDS994.1																																																																																				0.463	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		31	177	0	0	0	0.002096	0	31	177				
HRNR	388697	broad.mit.edu	37	1	152191355	152191355	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152191355G>A	ENST00000368801.2	-	3	2825	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	917					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S917F(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACTGCTGGAAGACCGACC	0.627																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2749-2751)TCC>TTC		hornerin							149.0	162.0	157.0					1																	152191355		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191355G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2750C>T	1.37:g.152191355G>A	ENSP00000357791:p.Ser917Phe						p.S917F	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2826	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		917			10.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2750C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.083	0.570539	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.01963	4.53	3.6	2.64	0.31445	.	.	.	.	.	T	0.02494	0.0076	L	0.55481	1.735	0.09310	N	1	D	0.58268	0.982	P	0.55667	0.781	T	0.43686	-0.9376	9	0.51188	T	0.08	.	10.7924	0.46440	0.0:0.2261:0.7738:0.0	.	917	Q86YZ3	HORN_HUMAN	F	917	ENSP00000357791:S917F	ENSP00000357791:S917F	S	-	2	0	HRNR	150457979	0.081000	0.21417	0.004000	0.12327	0.013000	0.08279	1.599000	0.36751	0.827000	0.34685	0.498000	0.49722	TCC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		16	421	0	0	0	0.006122	0	16	421				
FLG	2312	broad.mit.edu	37	1	152280798	152280798	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152280798A>T	ENST00000368799.1	-	3	6599	c.6564T>A	c.(6562-6564)agT>agA	p.S2188R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2188R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGCTTGCACTTCTGGATC	0.532									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6562-6564)AGT>AGA		filaggrin							470.0	399.0	423.0					1																	152280798		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.chr1:152280798A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6564T>A	1.37:g.152280798A>T	ENSP00000357789:p.Ser2188Arg						p.S2188R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6600	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2188			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6564T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	7.009	0.556438	0.13436	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	3.05	-1.34	0.09143	.	.	.	.	.	T	0.00906	0.0030	M	0.73962	2.25	0.09310	N	1	P	0.42993	0.797	B	0.28305	0.088	T	0.48536	-0.9027	9	0.15066	T	0.55	.	3.0666	0.06217	0.3706:0.2766:0.0:0.3528	.	2188	P20930	FILA_HUMAN	R	2188	ENSP00000357789:S2188R	ENSP00000357789:S2188R	S	-	3	2	FLG	150547422	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.532000	0.06164	-0.631000	0.05560	0.397000	0.26171	AGT		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		111	620	0	0	0	0.00361	0	111	620				
FLG2	388698	broad.mit.edu	37	1	152323313	152323313	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152323313G>T	ENST00000388718.5	-	3	7021	c.6949C>A	c.(6949-6951)Cag>Aag	p.Q2317K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2317					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)	p.Q2317K(1)		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)			GAACCTGTCTGTGTGGATTGT	0.463																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6949-6951)CAG>AAG		filaggrin family member 2							299.0	274.0	282.0					1																	152323313		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323313G>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.6949C>A	1.37:g.152323313G>T	ENSP00000373370:p.Gln2317Lys					uc001ezv.2_Intron	p.Q2317K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7022	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2317					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6949C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	1.401	-0.578099	0.03854	.	.	ENSG00000143520	ENST00000388718	T	0.34275	1.37	2.5	-5.0	0.03001	.	.	.	.	.	T	0.11879	0.0289	L	0.42245	1.32	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.14559	-1.0468	9	0.05721	T	0.95	.	3.3024	0.06988	0.1182:0.4753:0.2465:0.1601	.	2317	Q5D862	FILA2_HUMAN	K	2317	ENSP00000373370:Q2317K	ENSP00000373370:Q2317K	Q	-	1	0	FLG2	150589937	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.545000	0.02190	-1.234000	0.02548	-0.410000	0.06199	CAG		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		61	342	1	0	7.50695e-29	0.00361	1.15655e-28	61	342				
FLG2	388698	broad.mit.edu	37	1	152327330	152327330	+	Missense_Mutation	SNP	C	C	G	rs374118925		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152327330C>G	ENST00000388718.5	-	3	3004	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	978	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)	p.E978Q(1)		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)			GAGCCTGACTCATGTTGTCCA	0.493																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2932-2934)GAG>CAG		filaggrin family member 2							260.0	262.0	262.0					1																	152327330		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327330C>G	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.2932G>C	1.37:g.152327330C>G	ENSP00000373370:p.Glu978Gln					uc001ezv.2_Intron	p.E978Q	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3005	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		978			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2932G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210511	0.22289	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	4.17	3.2	0.36748	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.45702	-0.9243	9	0.10902	T	0.67	0.044	9.9483	0.41623	0.0:0.7943:0.2057:0.0	.	978	Q5D862	FILA2_HUMAN	Q	978	ENSP00000373370:E978Q	ENSP00000373370:E978Q	E	-	1	0	FLG2	150593954	0.000000	0.05858	0.136000	0.22124	0.018000	0.09664	0.085000	0.14912	2.160000	0.67779	0.561000	0.74099	GAG		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		25	644	0	0	0	0.003954	0	25	644				
LCE3B	353143	broad.mit.edu	37	1	152586301	152586301	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152586301G>T	ENST00000335633.1	+	1	15	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	5	Cys-rich.				keratinization (GO:0031424)			p.Q5H(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCTGCCAGCAGAACCAGCAGC	0.557																																							uc010pds.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CAG>CAT		late cornified envelope 3B							62.0	50.0	55.0					1																	152586301		1816	2696	4512	SO:0001583	missense	353143				keratinization			g.chr1:152586301G>T		CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.15G>T	1.37:g.152586301G>T	ENSP00000335358:p.Gln5His						p.Q5H	NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)	1	15	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		5			Cys-rich.			Missense_Mutation	SNP	ENST00000335633.1	37	c.15G>T	CCDS1016.1	.	.	.	.	.	.	.	.	.	.	G	9.385	1.073992	0.20147	.	.	ENSG00000187238	ENST00000335633	T	0.06528	3.29	4.21	0.988	0.19796	.	0.000000	0.32503	U	0.006015	T	0.06600	0.0169	.	.	.	0.28996	N	0.887784	D	0.69078	0.997	D	0.63793	0.918	T	0.11591	-1.0581	9	0.87932	D	0	.	3.4494	0.07493	0.2508:0.2174:0.5318:0.0	.	5	Q5TA77	LCE3B_HUMAN	H	5	ENSP00000335358:Q5H	ENSP00000335358:Q5H	Q	+	3	2	LCE3B	150852925	0.991000	0.36638	0.996000	0.52242	0.978000	0.69477	1.183000	0.32041	0.411000	0.25702	0.563000	0.77884	CAG		0.557	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034515.2	NM_178433		29	22	1	0	1.08312e-15	0.009535	1.50395e-15	29	22				
KPRP	448834	broad.mit.edu	37	1	152732910	152732911	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152732910_152732911CC>AA	ENST00000606109.1	+	1	874_875	c.846_847CC>AA	c.(844-849)taCCtg>taAAtg	p.282_283YL>*M	KPRP_ENST00000368773.1_Nonsense_Mutation_p.282_283YL>*M			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	282	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.Y282_L283>*(1)		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)			CCAGCAGCTACCTGCCACTAAG	0.599																																							uc001fal.1		NA																	1	Complex - deletion inframe(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(844-849)TACCTG>TAAATG		keratinocyte proline-rich protein																																				SO:0001587	stop_gained	448834					cytoplasm		g.chr1:152732910_152732911CC>AA	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	Exception_encountered	1.37:g.152732910_152732911delinsAA	ENSP00000475216:p.Y282_L283delins*M						p.282_283YL>*M	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	904_905	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		282_283			Pro-rich.			Nonsense_Mutation	DNP	ENST00000606109.1	37	c.846_847CC>AA	CCDS30862.1																																																																																				0.599	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		47	63	0	0	0	0.004672	0	47	63				
IVL	3713	broad.mit.edu	37	1	152883610	152883610	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152883610A>T	ENST00000368764.3	+	2	1401	c.1337A>T	c.(1336-1338)cAg>cTg	p.Q446L	IVL_ENST00000392667.2_Missense_Mutation_p.Q300L			P07476	INVO_HUMAN	involucrin	446	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.Q446L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGAGCAGCAGCAGGGGCAG	0.632																																							uc001fau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1336-1338)CAG>CTG		involucrin							22.0	26.0	24.0					1																	152883610		2179	4273	6452	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883610A>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1337A>T	1.37:g.152883610A>T	ENSP00000357753:p.Gln446Leu						p.Q446L	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1383	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		446			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|30.		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1337A>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	a	13.39	2.221758	0.39300	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.12147	2.98;2.71	3.46	-0.253	0.12996	.	.	.	.	.	T	0.07279	0.0184	L	0.32530	0.975	0.26073	N	0.981193	D	0.63880	0.993	P	0.59703	0.862	T	0.15206	-1.0445	9	0.49607	T	0.09	0.392	3.2276	0.06737	0.6008:0.0:0.2204:0.1788	.	446	P07476	INVO_HUMAN	L	446;300	ENSP00000357753:Q446L;ENSP00000376435:Q300L	ENSP00000357753:Q446L	Q	+	2	0	IVL	151150234	0.004000	0.15560	0.010000	0.14722	0.002000	0.02628	0.927000	0.28818	0.054000	0.16065	-0.400000	0.06385	CAG		0.632	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		6	6	0	0	0	0.001168	0	6	6				
NES	10763	broad.mit.edu	37	1	156640299	156640299	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:156640299C>A	ENST00000368223.3	-	4	3813	c.3681G>T	c.(3679-3681)ccG>ccT	p.P1227P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1227	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.P1227P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCAGGATCGGGGTGTACG	0.627																																							uc001fpq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(3679-3681)CCG>CCT		nestin							78.0	80.0	79.0					1																	156640299		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640299C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3681G>T	1.37:g.156640299C>A							p.P1227P	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3814	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1227			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3681G>T	CCDS1151.1																																																																																				0.627	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		85	94	1	0	2.84431e-33	0.00361	4.45285e-33	85	94				
OR6K2	81448	broad.mit.edu	37	1	158669516	158669516	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158669516A>T	ENST00000359610.2	-	1	970	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A309A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAATATCTTAGCTTGACCTA	0.388																																							uc001fsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(925-927)GCT>GCA		olfactory receptor, family 6, subfamily K,							73.0	71.0	72.0					1																	158669516		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669516A>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.927T>A	1.37:g.158669516A>T							p.A309A	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	927	-	all_hematologic(112;0.0378)		309			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.927T>A	CCDS30902.1																																																																																				0.388	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		7	51	0	0	0	0.001984	0	7	51				
PYHIN1	149628	broad.mit.edu	37	1	158908969	158908969	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158908969A>G	ENST00000368140.1	+	4	756	c.511A>G	c.(511-513)Aca>Gca	p.T171A	PYHIN1_ENST00000368138.3_Missense_Mutation_p.T162A|PYHIN1_ENST00000368135.4_Missense_Mutation_p.T171A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T171A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T162A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	171					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.T171A(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGCACGTCCACAGCCATGGG	0.517																																							uc001ftb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(511-513)ACA>GCA		pyrin and HIN domain family, member 1 alpha 1							122.0	110.0	114.0					1																	158908969		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908969A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.511A>G	1.37:g.158908969A>G	ENSP00000357122:p.Thr171Ala					PYHIN1_uc001fta.3_Missense_Mutation_p.T171A|PYHIN1_uc001ftc.2_Missense_Mutation_p.T162A|PYHIN1_uc001ftd.2_Missense_Mutation_p.T171A|PYHIN1_uc001fte.2_Missense_Mutation_p.T162A	p.T171A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	756	+	all_hematologic(112;0.0378)		171					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.511A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	3.236	-0.156307	0.06544	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T	0.27402	3.41;3.42;3.43;3.44;1.67	2.3	-0.284	0.12870	.	.	.	.	.	T	0.04907	0.0132	N	0.16201	0.385	0.09310	N	1	B;B;B;B;B	0.23128	0.026;0.012;0.026;0.007;0.08	B;B;B;B;B	0.27887	0.018;0.018;0.018;0.008;0.084	T	0.44498	-0.9324	8	.	.	.	.	4.6044	0.12371	0.6726:0.0:0.3274:0.0	.	162;171;162;171;171	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	A	171;162;171;162;171	ENSP00000357122:T171A;ENSP00000357120:T162A;ENSP00000376083:T171A;ENSP00000376082:T162A;ENSP00000357117:T171A	.	T	+	1	0	PYHIN1	157175593	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.791000	0.04599	-0.068000	0.12953	0.455000	0.32223	ACA		0.517	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		48	68	0	0	0	0.00361	0	48	68				
PYHIN1	149628	broad.mit.edu	37	1	158911812	158911812	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158911812A>T	ENST00000368140.1	+	5	870	c.625A>T	c.(625-627)Att>Ttt	p.I209F	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.I200F|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I209F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I200F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	209	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.I209F(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGTAAAAATATTTTCCGAGA	0.363																																							uc001ftb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(625-627)ATT>TTT		pyrin and HIN domain family, member 1 alpha 1							60.0	61.0	61.0					1																	158911812		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911812A>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.625A>T	1.37:g.158911812A>T	ENSP00000357122:p.Ile209Phe					PYHIN1_uc001ftc.2_Missense_Mutation_p.I200F|PYHIN1_uc001ftd.2_Missense_Mutation_p.I209F|PYHIN1_uc001fte.2_Missense_Mutation_p.I200F	p.I209F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			5	870	+	all_hematologic(112;0.0378)		209			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.625A>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	5.307	0.241922	0.10077	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.05199	3.49;3.48;3.51;3.5	2.84	-0.897	0.10553	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01287	0.0042	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.17268	0.021;0.011;0.021;0.012	B;B;B;B	0.16722	0.016;0.016;0.016;0.007	T	0.48139	-0.9061	9	0.39692	T	0.17	.	0.7182	0.00936	0.1739:0.2315:0.3596:0.235	.	200;209;200;209	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	F	209;200;209;200	ENSP00000357122:I209F;ENSP00000357120:I200F;ENSP00000376083:I209F;ENSP00000376082:I200F	ENSP00000357120:I200F	I	+	1	0	PYHIN1	157178436	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.136000	0.01305	-0.351000	0.08249	-0.323000	0.08544	ATT		0.363	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		24	22	0	0	0	0.00278	0	24	22				
ATP1A4	480	broad.mit.edu	37	1	160134024	160134024	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:160134024C>T	ENST00000368081.4	+	7	1328	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	286					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A286V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGCCTGGCGGTTGGCCAG	0.557																																							uc001fve.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(856-858)GCG>GTG		Na+/K+ -ATPase alpha 4 subunit isoform 1							199.0	163.0	175.0					1																	160134024		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134024C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.857C>T	1.37:g.160134024C>T	ENSP00000357060:p.Ala286Val					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank	p.A286V	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1336	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		286			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.857C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.935938	0.18206	.	.	ENSG00000132681	ENST00000368081	D	0.90732	-2.72	4.54	-9.08	0.00720	ATPase, P-type, ATPase-associated domain (1);	1.554240	0.03968	N	0.291111	T	0.67869	0.2939	L	0.28458	0.855	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.64491	-0.6395	10	0.66056	D	0.02	.	7.1207	0.25442	0.6658:0.1312:0.0765:0.1265	.	286	Q13733	AT1A4_HUMAN	V	286	ENSP00000357060:A286V	ENSP00000357060:A286V	A	+	2	0	ATP1A4	158400648	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.082000	0.00613	-2.376000	0.00598	-0.953000	0.02652	GCG		0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		25	140	0	0	0	0.00333	0	25	140				
SLAMF1	6504	broad.mit.edu	37	1	160616716	160616716	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:160616716A>T	ENST00000302035.6	-	1	369	c.20T>A	c.(19-21)cTc>cAc	p.L7H	SLAMF1_ENST00000538290.1_Missense_Mutation_p.L7H|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L7H|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L7H	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	7					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L7H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTCAAGGAGAGGAGCCCCTT	0.567																																							uc001fwl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(19-21)CTC>CAC		signaling lymphocytic activation molecule family							65.0	60.0	61.0					1																	160616716		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160616716A>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.20T>A	1.37:g.160616716A>T	ENSP00000306190:p.Leu7His					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.L7H	p.L7H	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	366	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		7					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.20T>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280068	0.23392	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.84	1.43	0.22495	Signaling lymphocytic activation molecule, N-terminal (2);	0.307478	0.25698	N	0.028885	T	0.43853	0.1266	L	0.39245	1.2	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.946	T	0.29397	-1.0013	10	0.62326	D	0.03	-4.0608	3.1411	0.06456	0.6794:0.0:0.1135:0.207	.	7;7	B4E2E4;Q13291	.;SLAF1_HUMAN	H	7	ENSP00000306190:L7H;ENSP00000235739:L7H;ENSP00000438406:L7H;ENSP00000347333:L7H	ENSP00000235739:L7H	L	-	2	0	SLAMF1	158883340	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	0.183000	0.16919	0.285000	0.22329	0.460000	0.39030	CTC		0.567	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	39	0	0	0	0.000602	0	4	39				
RXRG	6258	broad.mit.edu	37	1	165380320	165380321	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:165380320_165380321GG>AT	ENST00000359842.5	-	5	950_951	c.648_649CC>AT	c.(646-651)agCCga>agATga	p.216_217SR>R*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	216	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S216_R217>R*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GCTCGCTCTCGGCTCCTCTGTC	0.495																																							uc001gda.2		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(646-651)AGCCGA>AGATGA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)																																			SO:0001587	stop_gained	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380320_165380321GG>AT	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.648_649delinsAT	1.37:g.165380320_165380321delinsAT	ENSP00000352900:p.S216_R217delinsR*						p.216_217SR>R*	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	948_949	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		216_217			Hinge.		A6NIP1|Q6IBU7	Nonsense_Mutation	DNP	ENST00000359842.5	37	c.648_649CC>AT	CCDS1248.1																																																																																				0.495	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		35	42	0	0	0	0.004672	0	35	42				
FAM78B	149297	broad.mit.edu	37	1	166039591	166039591	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:166039591G>T	ENST00000338353.3	-	3	1262	c.673C>A	c.(673-675)Cgg>Agg	p.R225R	FAM78B_ENST00000354422.3_Silent_p.R225R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	225								p.R225R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGTTCCATCCGGCTCAGGATC	0.622																																							uc001gdr.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(673-675)CGG>AGG		hypothetical protein LOC149297							85.0	83.0	84.0					1																	166039591		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039591G>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.673C>A	1.37:g.166039591G>T						FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	p.R225R	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	1263	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		225					B7Z693	Silent	SNP	ENST00000338353.3	37	c.673C>A	CCDS30931.1																																																																																				0.622	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		20	75	1	0	8.00594e-06	0.007413	9.17369e-06	20	75				
FAM78B	149297	broad.mit.edu	37	1	166039623	166039623	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:166039623C>T	ENST00000338353.3	-	3	1230	c.641G>A	c.(640-642)aGg>aAg	p.R214K	FAM78B_ENST00000354422.3_Missense_Mutation_p.R214K			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	214								p.R214K(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGCTGAGTCCTGCCCACCAG	0.587																																							uc001gdr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(640-642)AGG>AAG		hypothetical protein LOC149297							86.0	83.0	84.0					1																	166039623		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039623C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.641G>A	1.37:g.166039623C>T	ENSP00000339681:p.Arg214Lys					FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	p.R214K	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	1231	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		214					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.641G>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657325	0.47467	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	L	0.51422	1.61	0.47065	D	0.999306	P	0.45474	0.859	B	0.41236	0.351	T	0.22243	-1.0222	8	0.23891	T	0.37	-19.1813	17.3517	0.87326	0.0:1.0:0.0:0.0	.	214	Q5VT40	FA78B_HUMAN	K	214	.	ENSP00000339681:R214K	R	-	2	0	FAM78B	164306247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.751000	0.62169	2.687000	0.91594	0.655000	0.94253	AGG		0.587	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		18	75	0	0	0	0.00499	0	18	75				
XCL2	6846	broad.mit.edu	37	1	168510285	168510285	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:168510285T>G	ENST00000367819.2	-	3	282	c.250A>C	c.(250-252)Atg>Ctg	p.M84L		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	84					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.M84L(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCCTGTCCATGCTCCTGACC	0.483																																							uc001gfn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)ATG>CTG		chemokine (C motif) ligand 2 precursor							275.0	215.0	235.0					1																	168510285		2203	4300	6503	SO:0001583	missense	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510285T>G	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.250A>C	1.37:g.168510285T>G	ENSP00000356793:p.Met84Leu						p.M84L	NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN			3	283	-	all_hematologic(923;0.215)		84						Missense_Mutation	SNP	ENST00000367819.2	37	c.250A>C	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632292	0.00806	.	.	ENSG00000143185	ENST00000367819	T	0.02631	4.22	2.35	-2.75	0.05914	Chemokine interleukin-8-like domain (2);	1.402110	0.04179	N	0.326192	T	0.00271	0.0008	N	0.00605	-1.335	0.22531	N	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.47341	-0.9125	9	0.02654	T	1	0.5528	7.2048	0.25901	0.0:0.6427:0.0:0.3573	.	84	Q9UBD3	XCL2_HUMAN	L	84	ENSP00000356793:M84L	ENSP00000356793:M84L	M	-	1	0	XCL2	166776909	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-2.153000	0.01287	-0.468000	0.06922	0.155000	0.16302	ATG		0.483	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		6	63	0	0	0	0.001984	0	6	63				
KLHL20	27252	broad.mit.edu	37	1	173726252	173726252	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:173726252G>A	ENST00000209884.4	+	7	1241	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	KLHL20_ENST00000546011.1_Missense_Mutation_p.A180T	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	369					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.A369T(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCTGTTATATGCAGTAGGAGG	0.393																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1105-1107)GCA>ACA		kelch-like 20							233.0	216.0	222.0					1																	173726252		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726252G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1105G>A	1.37:g.173726252G>A	ENSP00000209884:p.Ala369Thr					KLHL20_uc010pmr.1_Missense_Mutation_p.A180T|KLHL20_uc009wwf.2_Missense_Mutation_p.A351T	p.A369T	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			7	1284	+			369			Kelch 2.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1105G>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347071	0.95807	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.79554	-1.28;-1.28	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.974;0.998	D	0.93426	0.6781	10	0.72032	D	0.01	.	18.0216	0.89257	0.0:0.0:1.0:0.0	.	180;369	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	T	180;369	ENSP00000443121:A180T;ENSP00000209884:A369T	ENSP00000209884:A369T	A	+	1	0	KLHL20	171992875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.618000	0.98365	2.532000	0.85374	0.650000	0.86243	GCA		0.393	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		28	92	0	0	0	0.007291	0	28	92				
TNN	63923	broad.mit.edu	37	1	175106085	175106085	+	Silent	SNP	C	C	A	rs566752311	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:175106085C>A	ENST00000239462.4	+	17	3669	c.3556C>A	c.(3556-3558)Cgg>Agg	p.R1186R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1186	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R1186R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCAAGGAGCGGTATAAGCT	0.473																																							uc001gkl.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3556-3558)CGG>AGG		tenascin N precursor							70.0	69.0	69.0					1																	175106085		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175106085C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3556C>A	1.37:g.175106085C>A							p.R1186R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	17	3669	+		Breast(1374;0.000962)	1186			Fibrinogen C-terminal.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.3556C>A	CCDS30943.1																																																																																				0.473	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	59	1	0	8.60227e-14	0.004007	1.15759e-13	16	59				
CACNA1E	777	broad.mit.edu	37	1	181745277	181745277	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:181745277A>T	ENST00000367573.2	+	38	5180	c.5180A>T	c.(5179-5181)gAg>gTg	p.E1727V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1659V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1708V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1727V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1708V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1678V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1334V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1727					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.E1727V(2)		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						GACAACTTTGAGTACCTGACT	0.567																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5179-5181)GAG>GTG		calcium channel, voltage-dependent, R type,							199.0	202.0	201.0					1																	181745277		2024	4200	6224	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745277A>T	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.5180A>T	1.37:g.181745277A>T	ENSP00000356545:p.Glu1727Val					CACNA1E_uc009wxs.2_Missense_Mutation_p.E1615V|CACNA1E_uc001gox.1_Missense_Mutation_p.E953V|CACNA1E_uc009wxt.2_Missense_Mutation_p.E953V	p.E1727V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			38	5345	+			1727			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5180A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	34	5.352922	0.95830	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.83275	0.976;0.987;0.996	D	0.99741	1.1015	10	0.87932	D	0	.	15.8624	0.79035	1.0:0.0:0.0:0.0	.	1708;1727;1727	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1727;1708;1678;1659;1334;1708;1727	ENSP00000356542:E1727V;ENSP00000434814:E1708V;ENSP00000350183:E1678V;ENSP00000351101:E1659V;ENSP00000356539:E1334V;ENSP00000353222:E1708V;ENSP00000356545:E1727V	ENSP00000350183:E1678V	E	+	2	0	CACNA1E	180011900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.235000	0.73313	0.533000	0.62120	GAG		0.567	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		60	180	0	0	0	0.00361	0	60	180				
ZNF648	127665	broad.mit.edu	37	1	182025654	182025654	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:182025654G>T	ENST00000339948.3	-	2	1699	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H498N(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCCCCGGAGTGGATCTGTTGG	0.637																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1492-1494)CAC>AAC		zinc finger protein 648							63.0	56.0	58.0					1																	182025654		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025654G>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1492C>A	1.37:g.182025654G>T	ENSP00000344129:p.His498Asn						p.H498N	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1700	-			498			C2H2-type 8.		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.1492C>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741692	0.49151	.	.	ENSG00000179930	ENST00000339948	T	0.67345	-0.26	2.77	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84000	0.5376	M	0.93328	3.405	0.18873	N	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.72077	-0.4399	9	0.87932	D	0	.	9.5323	0.39202	0.0:0.2185:0.7814:0.0	.	498	Q5T619	ZN648_HUMAN	N	498	ENSP00000344129:H498N	ENSP00000344129:H498N	H	-	1	0	ZNF648	180292277	0.999000	0.42202	0.549000	0.28204	0.970000	0.65996	4.282000	0.58971	0.675000	0.31264	0.655000	0.94253	CAC		0.637	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	20	1	0	6.4e-05	0.004672	7.10182e-05	3	20				
ZNF648	127665	broad.mit.edu	37	1	182026579	182026579	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:182026579C>A	ENST00000339948.3	-	2	774	c.567G>T	c.(565-567)ctG>ctT	p.L189L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L189L(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGAAACACAACAGAGAAGAGT	0.612																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(565-567)CTG>CTT		zinc finger protein 648							49.0	56.0	53.0					1																	182026579		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026579C>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.567G>T	1.37:g.182026579C>A							p.L189L	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	775	-			189					B2RP16	Silent	SNP	ENST00000339948.3	37	c.567G>T	CCDS30952.1																																																																																				0.612	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		4	28	1	0	0.00909568	0.009096	0.00956747	4	28				
FAM129A	116496	broad.mit.edu	37	1	184764797	184764797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:184764797C>A	ENST00000367511.3	-	14	2294	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	701	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E701*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGATGGGTTCTGGCTCTTCC	0.562																																							uc001gra.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2101-2103)GAA>TAA		niban protein isoform 2							62.0	57.0	58.0					1																	184764797		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764797C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2101G>T	1.37:g.184764797C>A	ENSP00000356481:p.Glu701*					FAM129A_uc001grb.1_Intron	p.E701*	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2295	-			701			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.2101G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162108	0.97338	.	.	ENSG00000135842	ENST00000367511	.	.	.	4.75	2.84	0.33178	.	0.641392	0.14370	N	0.323841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.9993	9.0855	0.36579	0.0:0.7726:0.1475:0.08	.	.	.	.	X	701	.	ENSP00000356481:E701X	E	-	1	0	FAM129A	183031420	0.017000	0.18338	0.002000	0.10522	0.081000	0.17604	0.684000	0.25364	0.666000	0.31087	-0.339000	0.08088	GAA		0.562	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			18	58	1	0	1.67942e-08	0.006122	2.04818e-08	18	58				
BRINP3	339479	broad.mit.edu	37	1	190067188	190067188	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:190067188G>T	ENST00000367462.3	-	8	2492	c.2261C>A	c.(2260-2262)cCa>cAa	p.P754Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.P652Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	754					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)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.P754Q(1)									CATTGTGTTTGGCAATTTGGC	0.408																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2260-2262)CCA>CAA		family with sequence similarity 5, member C							149.0	146.0	147.0					1																	190067188		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067188G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2261C>A	1.37:g.190067188G>T	ENSP00000356432:p.Pro754Gln					FAM5C_uc010pot.1_Missense_Mutation_p.P652Q	p.P754Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2493	-	Prostate(682;0.198)		754					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2261C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506865	0.64410	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21031	2.28;2.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.38222	-0.9671	10	0.56958	D	0.05	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	652;754	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	754;652	ENSP00000356432:P754Q;ENSP00000438022:P652Q	ENSP00000356432:P754Q	P	-	2	0	FAM5C	188333811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.695000	0.91970	0.650000	0.86243	CCA		0.408	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		37	99	1	0	3.62531e-18	0.004289	5.18241e-18	37	99				
RGS1	5996	broad.mit.edu	37	1	192547357	192547357	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:192547357C>A	ENST00000367459.3	+	4	352	c.286C>A	c.(286-288)Caa>Aaa	p.Q96K	RGS1_ENST00000469578.2_Missense_Mutation_p.Q96K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	96	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)	p.Q83K(1)|p.Q96K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTTAGCTGGTCAAAATGTCTT	0.333																																							uc001gsi.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(286-288)CAA>AAA		regulator of G-protein signalling 1							127.0	135.0	132.0					1																	192547357		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.chr1:192547357C>A	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.286C>A	1.37:g.192547357C>A	ENSP00000356429:p.Gln96Lys					RGS1_uc010pou.1_Missense_Mutation_p.Q96K	p.Q96K	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	352	+		Breast(1374;0.188)	96			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.286C>A	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550055	0.27652	.	.	ENSG00000090104	ENST00000367459	T	0.01745	4.66	5.91	4.0	0.46444	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.243445	0.36409	N	0.002609	T	0.02610	0.0079	L	0.42245	1.32	0.38087	D	0.936837	P;B	0.36249	0.545;0.363	B;B	0.35770	0.21;0.134	T	0.54214	-0.8327	10	0.62326	D	0.03	.	14.1366	0.65291	0.2739:0.7261:0.0:0.0	.	96;96	Q08116-2;Q08116	.;RGS1_HUMAN	K	96	ENSP00000356429:Q96K	ENSP00000356429:Q96K	Q	+	1	0	RGS1	190813980	0.980000	0.34600	1.000000	0.80357	0.870000	0.49936	1.779000	0.38624	0.796000	0.33947	0.650000	0.86243	CAA		0.333	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		28	143	1	0	3.90053e-15	0.002445	5.37324e-15	28	143				
IPO9	55705	broad.mit.edu	37	1	201843470	201843470	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:201843470C>G	ENST00000361565.4	+	21	2872	c.2803C>G	c.(2803-2805)Cgc>Ggc	p.R935G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	935				R -> P (in Ref. 4; BAB55181). {ECO:0000305}.	protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.R935G(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAATGCCGCTCGCCAGGCCAC	0.507																																							uc001gwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2803-2805)CGC>GGC		importin 9							82.0	78.0	80.0					1																	201843470		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843470C>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2803C>G	1.37:g.201843470C>G	ENSP00000354742:p.Arg935Gly						p.R935G	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			21	2853	+			935	R -> P (in Ref. 4; BAB55181).				B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2803C>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502899	0.44558	.	.	ENSG00000198700	ENST00000361565;ENST00000456707	.	.	.	5.8	4.9	0.64082	Armadillo-type fold (1);	0.046070	0.85682	D	0.000000	T	0.53498	0.1800	L	0.47716	1.5	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.48375	-0.9041	9	0.23891	T	0.37	.	12.6445	0.56728	0.0:0.9201:0.0:0.0799	.	935	Q96P70	IPO9_HUMAN	G	935;10	.	ENSP00000354742:R935G	R	+	1	0	IPO9	200110093	0.938000	0.31826	0.916000	0.36221	0.993000	0.82548	1.924000	0.40065	1.476000	0.48215	-0.136000	0.14681	CGC		0.507	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		7	97	0	0	0	0.00308	0	7	97				
LGR6	59352	broad.mit.edu	37	1	202245436	202245436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202245436G>T	ENST00000367278.3	+	5	520	c.431G>T	c.(430-432)cGc>cTc	p.R144L	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R92L|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	144					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.R144L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCACCAGGCGCCTAGATGCC	0.617																																							uc001gxu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(430-432)CGC>CTC		leucine-rich repeat-containing G protein-coupled							57.0	56.0	57.0					1																	202245436		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245436G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.431G>T	1.37:g.202245436G>T	ENSP00000356247:p.Arg144Leu					LGR6_uc001gxv.2_Missense_Mutation_p.R92L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	p.R144L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			5	431	+			144			LRR 3.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.431G>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220618	0.95139	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.56444	0.46;0.46;0.46	5.07	5.07	0.68467	.	0.111062	0.64402	D	0.000005	T	0.52837	0.1759	N	0.03903	-0.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67369	-0.5688	10	0.62326	D	0.03	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	92;144	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	L	144;92;70;70	ENSP00000356247:R144L;ENSP00000255432:R92L;ENSP00000402284:R70L	ENSP00000255432:R92L	R	+	2	0	LGR6	200512059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.632000	0.89209	0.637000	0.83480	CGC		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		18	79	1	0	1.67942e-08	0.006122	2.04818e-08	18	79				
UBE2T	29089	broad.mit.edu	37	1	202301011	202301011	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202301011C>A	ENST00000367274.4	-	7	695	c.546G>T	c.(544-546)aaG>aaT	p.K182N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	182					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.K182N(1)		large_intestine(1)|lung(3)|skin(1)	5						GCTGACTGGCCTTCCTTTTCT	0.438																																							uc001gxx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(544-546)AAG>AAT		ubiquitin-conjugating enzyme E2T							284.0	246.0	259.0					1																	202301011		2203	4300	6503	SO:0001583	missense	29089				DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr1:202301011C>A	AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.546G>T	1.37:g.202301011C>A	ENSP00000356243:p.Lys182Asn						p.K182N	NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN			7	682	-			182					Q2TU36	Missense_Mutation	SNP	ENST00000367274.4	37	c.546G>T	CCDS1425.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130302	0.37630	.	.	ENSG00000077152	ENST00000367274	T	0.54866	0.55	5.84	2.25	0.28309	Ubiquitin-conjugating enzyme/RWD-like (1);	0.130210	0.52532	D	0.000078	T	0.37652	0.1011	N	0.24115	0.695	0.36662	D	0.878026	P	0.46706	0.883	B	0.44224	0.444	T	0.40175	-0.9577	10	0.87932	D	0	-14.207	6.5193	0.22266	0.0:0.4459:0.0:0.5541	.	182	Q9NPD8	UBE2T_HUMAN	N	182	ENSP00000356243:K182N	ENSP00000356243:K182N	K	-	3	2	UBE2T	200567634	0.995000	0.38212	0.996000	0.52242	0.534000	0.34807	0.004000	0.13106	0.148000	0.19059	-0.469000	0.05056	AAG		0.438	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099163.1	NM_014176		44	155	1	0	4.18559e-23	0.00361	6.27119e-23	44	155				
KLHL12	59349	broad.mit.edu	37	1	202887329	202887329	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202887329C>A	ENST00000367261.3	-	4	755	c.537G>T	c.(535-537)gtG>gtT	p.V179V	KLHL12_ENST00000435533.3_Silent_p.V217V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	179	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)		p.V179V(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAGCTTTTCCACCTCTCCTT	0.413																																							uc001gyo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)GTG>GTT		kelch-like 12							181.0	164.0	170.0					1																	202887329		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202887329C>A	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.537G>T	1.37:g.202887329C>A						KLHL12_uc001gyn.1_Silent_p.V29V|KLHL12_uc010pqc.1_Silent_p.V217V|KLHL12_uc009xah.1_Silent_p.V179V	p.V179V	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	737	-			179					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.537G>T	CCDS1429.1																																																																																				0.413	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		24	182	1	0	2.48779e-11	0.005443	3.19493e-11	24	182				
SNRPE	6635	broad.mit.edu	37	1	203830805	203830805	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:203830805G>T	ENST00000414487.2	+	1	63	c.18G>T	c.(16-18)caG>caT	p.Q6H	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'Flank	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	6					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)	p.Q6H(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGTGGCCAGGGTCAGAAAG	0.562																																					Ovarian(83;324 1318 17952 32395 39614)	Ovarian(83;324 1318 17952 32395 39614)	uc001hai.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CAG>CAT		small nuclear ribonucleoprotein polypeptide E							110.0	92.0	98.0					1																	203830805		2203	4300	6503	SO:0001583	missense	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203830805G>T	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.18G>T	1.37:g.203830805G>T	ENSP00000400591:p.Gln6His					SNRPE_uc010pqn.1_RNA	p.Q6H	NM_003094	NP_003085	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		1	66	+	all_cancers(21;0.103)		6					B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	c.18G>T	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519250	0.64634	.	.	ENSG00000182004	ENST00000414487	.	.	.	5.6	3.74	0.42951	.	0.186335	0.47852	D	0.000204	T	0.49287	0.1548	.	.	.	0.80722	D	1	P	0.44578	0.838	B	0.44278	0.445	T	0.47289	-0.9129	8	0.56958	D	0.05	.	8.3837	0.32488	0.2946:0.0:0.7054:0.0	.	6	P62304	RUXE_HUMAN	H	6	.	ENSP00000400591:Q6H	Q	+	3	2	SNRPE	202097428	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.351000	0.34022	0.724000	0.32296	0.609000	0.83330	CAG		0.562	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		4	66	1	0	5.9392e-07	0.001168	6.95165e-07	4	66				
SLC45A3	85414	broad.mit.edu	37	1	205628458	205628458	+	Silent	SNP	G	G	A	rs141291475	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:205628458G>A	ENST00000367145.3	-	5	1861	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	522					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A522A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACACCATATAGGCAGTGACAG	0.547			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	25	0.00499201	0.0182	0.0014	5008	,	,		19592	0.0		0.0	False		,,,				2504	0.0						uc001hda.1		NA		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(2)	4						c.(1564-1566)GCC>GCT		prostein		G		74,4332	65.8+/-103.3	1,72,2130	75.0	72.0	73.0		1566	4.0	1.0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	SLC45A3	NM_033102.2		1,72,6430	AA,AG,GG		0.0,1.6795,0.569		522/554	205628458	74,12932	2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205628458G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1566C>T	1.37:g.205628458G>A			OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.A522A	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1905	-	Breast(84;0.07)		522			Helical; Name=11; (Potential).		A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1566C>T	CCDS1458.1																																																																																				0.547	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		10	68	0	0	0	0.000978	0	10	68				
TRAF3IP3	80342	broad.mit.edu	37	1	209951496	209951496	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:209951496G>A	ENST00000367024.1	+	13	1746	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TRAF3IP3_ENST00000400959.3_Silent_p.V390V|TRAF3IP3_ENST00000367026.3_Silent_p.V390V|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Silent_p.V410V|TRAF3IP3_ENST00000367023.1_Silent_p.V146V|TRAF3IP3_ENST00000010338.4_Silent_p.V390V			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	410						integral component of membrane (GO:0016021)		p.V390V(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCACCCTGGTGACCAGAGTAC	0.468																																							uc001hho.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1228-1230)GTG>GTA		TRAF3-interacting JNK-activating modulator							107.0	106.0	106.0					1																	209951496		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209951496G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1230G>A	1.37:g.209951496G>A						TRAF3IP3_uc001hhl.2_Silent_p.V390V|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Silent_p.V390V|TRAF3IP3_uc009xcr.2_Silent_p.V410V	p.V410V	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	13	1520	+			410			Cytoplasmic (Potential).|Potential.		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.1230G>A	CCDS1490.2																																																																																				0.468	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			7	24	0	0	0	0.001984	0	7	24				
PTPN14	5784	broad.mit.edu	37	1	214557623	214557623	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:214557623T>A	ENST00000366956.5	-	13	1769	c.1575A>T	c.(1573-1575)ccA>ccT	p.P525P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	525					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.P525P(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCGGCTTGCTTGGTACCACAT	0.582																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1573-1575)CCA>CCT		protein tyrosine phosphatase, non-receptor type							119.0	123.0	122.0					1																	214557623		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557623T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1575A>T	1.37:g.214557623T>A						PTPN14_uc010pty.1_Silent_p.P426P	p.P525P	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1846	-			525					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.1575A>T	CCDS1514.1																																																																																				0.582	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		54	185	0	0	0	0.00361	0	54	185				
KCTD3	51133	broad.mit.edu	37	1	215793486	215793486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:215793486G>C	ENST00000259154.4	+	18	2268	c.1974G>C	c.(1972-1974)agG>agC	p.R658S	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	658					protein homooligomerization (GO:0051260)			p.R658S(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TATTAGCAAGGGCAAGAAGGA	0.433																																							uc001hks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1972-1974)AGG>AGC		potassium channel tetramerisation domain							72.0	74.0	73.0					1																	215793486		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793486G>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1974G>C	1.37:g.215793486G>C	ENSP00000259154:p.Arg658Ser					KCTD3_uc001hkt.2_Missense_Mutation_p.R656S|KCTD3_uc010pub.1_Missense_Mutation_p.R556S|KCTD3_uc009xdn.2_Missense_Mutation_p.R382S	p.R658S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2268	+			658					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1974G>C	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604127	0.46423	.	.	ENSG00000136636	ENST00000259154	T	0.40225	1.04	5.53	-1.17	0.09648	.	0.088233	0.85682	D	0.000000	T	0.41766	0.1173	M	0.67953	2.075	0.48452	D	0.999654	P;P;P;P	0.46142	0.873;0.728;0.873;0.651	P;B;P;B	0.44811	0.461;0.366;0.461;0.104	T	0.37314	-0.9711	10	0.51188	T	0.08	-27.2199	11.3804	0.49754	0.521:0.0:0.479:0.0	.	408;410;656;658	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	S	658	ENSP00000259154:R658S	ENSP00000259154:R658S	R	+	3	2	KCTD3	213860109	0.940000	0.31905	0.711000	0.30485	0.973000	0.67179	0.019000	0.13444	-0.535000	0.06307	-0.786000	0.03341	AGG		0.433	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		19	71	0	0	0	0.007413	0	19	71				
USH2A	7399	broad.mit.edu	37	1	216497008	216497008	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:216497008G>T	ENST00000307340.3	-	8	1744	c.1358C>A	c.(1357-1359)aCa>aAa	p.T453K	USH2A_ENST00000366943.2_Missense_Mutation_p.T453K|USH2A_ENST00000366942.3_Missense_Mutation_p.T453K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	453	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		T -> I (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		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)	p.T453I(1)|p.T453K(1)		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)		GATGCTAAATGTGACATTGCC	0.363										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)	p.T453I(1)	lung(1)|kidney(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1357-1359)ACA>AAA		usherin isoform B							121.0	122.0	122.0					1																	216497008		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.chr1:216497008G>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.1358C>A	1.37:g.216497008G>T	ENSP00000305941:p.Thr453Lys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T453K	p.T453K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1745	-			453		T -> I (found in a renal cell carcinoma sample; somatic mutation).	Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1358C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489538	0.84962	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18960	2.62;2.62;2.18	5.23	4.31	0.51392	Laminin, N-terminal (3);	0.000000	0.46442	D	0.000296	T	0.46541	0.1398	M	0.80028	2.48	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.70016	0.917;0.967	T	0.50833	-0.8781	10	0.72032	D	0.01	.	13.2033	0.59780	0.0763:0.0:0.9236:0.0	.	453;453	O75445-2;O75445	.;USH2A_HUMAN	K	453	ENSP00000305941:T453K;ENSP00000355910:T453K;ENSP00000355909:T453K	ENSP00000305941:T453K	T	-	2	0	USH2A	214563631	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.260000	0.78391	2.424000	0.82194	0.655000	0.94253	ACA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	94	1	0	1.55469e-16	0.00333	2.1866e-16	25	94				
MARK1	4139	broad.mit.edu	37	1	220805550	220805550	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:220805550G>A	ENST00000366917.4	+	11	1283	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	MARK1_ENST00000366918.4_Missense_Mutation_p.M317I|MARK1_ENST00000402574.1_Missense_Mutation_p.M204I					MAP/microtubule affinity-regulating kinase 1									p.M339I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TAGACATTATGGTCACCATGG	0.308																																							uc001hmn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1015-1017)ATG>ATA		MAP/microtubule affinity-regulating kinase 1							117.0	130.0	125.0					1																	220805550		2203	4294	6497	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220805550G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1017G>A	1.37:g.220805550G>A	ENSP00000355884:p.Met339Ile					MARK1_uc009xdw.2_Missense_Mutation_p.M339I|MARK1_uc010pun.1_Missense_Mutation_p.M339I|MARK1_uc001hmm.3_Missense_Mutation_p.M317I	p.M339I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	11	1614	+			339			UBA.			Missense_Mutation	SNP	ENST00000366917.4	37	c.1017G>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344769	0.82022	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.34667	1.35;1.35;1.35	5.74	5.74	0.90152	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.79258	2.445	0.80722	D	1	B;B;P;D	0.54772	0.275;0.395;0.902;0.968	B;B;B;P	0.61003	0.086;0.178;0.286;0.882	T	0.63444	-0.6636	10	0.66056	D	0.02	.	19.9186	0.97074	0.0:0.0:1.0:0.0	.	339;204;339;317	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	I	204;317;339	ENSP00000386017:M204I;ENSP00000355885:M317I;ENSP00000355884:M339I	ENSP00000355884:M339I	M	+	3	0	MARK1	218872173	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.603000	0.98315	2.716000	0.92895	0.557000	0.71058	ATG		0.308	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			18	311	0	0	0	0.007413	0	18	311				
HHIPL2	79802	broad.mit.edu	37	1	222717255	222717255	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:222717255C>A	ENST00000343410.6	-	2	656	c.598G>T	c.(598-600)Gat>Tat	p.D200Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	200					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.D200Y(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGAGGATCTTGGGCCACC	0.612																																							uc001hnh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GAT>TAT		HHIP-like 2 precursor							53.0	56.0	55.0					1																	222717255		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717255C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.598G>T	1.37:g.222717255C>A	ENSP00000342118:p.Asp200Tyr						p.D200Y	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	656	-			200					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.598G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618537	0.28801	.	.	ENSG00000143512	ENST00000343410	T	0.76709	-1.04	5.31	3.41	0.39046	Folate receptor-like (1);Six-bladed beta-propeller, TolB-like (1);	0.099386	0.64402	D	0.000004	D	0.88440	0.6437	M	0.88377	2.95	0.25244	N	0.98973	D	0.89917	1.0	D	0.79108	0.992	T	0.81226	-0.1029	10	0.72032	D	0.01	-18.4332	12.025	0.53365	0.0:0.8543:0.0:0.1457	.	200	Q6UWX4	HIPL2_HUMAN	Y	200	ENSP00000342118:D200Y	ENSP00000342118:D200Y	D	-	1	0	HHIPL2	220783878	0.594000	0.26849	0.051000	0.19133	0.027000	0.11550	1.916000	0.39986	1.222000	0.43521	0.467000	0.42956	GAT		0.612	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		13	65	1	0	7.03913e-09	0.001368	8.65743e-09	13	65				
NUP133	55746	broad.mit.edu	37	1	229594020	229594020	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229594020C>A	ENST00000261396.3	-	21	2959	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	NUP133_ENST00000537506.1_Missense_Mutation_p.L940F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	956					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L956F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCATATTTGCCAAACCCAGAA	0.388																																							uc001htn.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2866-2868)TTG>TTT		nucleoporin 133kDa							94.0	87.0	89.0					1																	229594020		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229594020C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2868G>T	1.37:g.229594020C>A	ENSP00000261396:p.Leu956Phe					uc001hto.1_5'Flank	p.L956F	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			21	2960	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	956					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2868G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829181	0.71258	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.32272	1.46;1.58;1.46	5.68	3.81	0.43845	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.126289	0.53938	D	0.000042	T	0.49525	0.1562	M	0.76170	2.325	0.58432	D	0.999999	D	0.65815	0.995	D	0.70016	0.967	T	0.47911	-0.9080	10	0.46703	T	0.11	-16.6141	7.8181	0.29271	0.0:0.7276:0.0:0.2724	.	956	Q8WUM0	NU133_HUMAN	F	885;956;885;940	ENSP00000261396:L956F;ENSP00000355640:L885F;ENSP00000443496:L940F	ENSP00000261396:L956F	L	-	3	2	NUP133	227660643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.229000	0.32600	1.399000	0.46721	0.467000	0.42956	TTG		0.388	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		21	35	1	0	0.000295444	0.002299	0.000322841	21	35				
ABCB10	23456	broad.mit.edu	37	1	229661863	229661864	+	Splice_Site	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229661863_229661864CC>AA	ENST00000344517.4	-	10	1768	c.1726_1726GG>TT	c.(1726-1728)GGga>TTgga	p.G576L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	576	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAATGGGTTCCTACAAATTGG	0.361																																							uc001htp.3		NA																	1	Unknown(1)		lung(1)	breast(2)	2						c.e10-1		ATP-binding cassette, sub-family B, member 10																																				SO:0001630	splice_region_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229661863_229661864CC>AA	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1726_1726delinsAA	1.37:g.229661863_229661864delinsAA							p.E576_splice	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			10	1769	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)						Q13040|Q6P1Q8|Q9H3V0	Splice_Site	DNP	ENST00000344517.4	37	c.1726_splice	CCDS1580.1																																																																																				0.361	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	Missense_Mutation	18	79	0	0	0	0.004672	0	18	79				
AGT	183	broad.mit.edu	37	1	230846486	230846486	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:230846486G>A	ENST00000366667.4	-	2	325	c.111C>T	c.(109-111)taC>taT	p.Y37Y	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	37					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.Y37Y(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGGGTGTATGTACACCCGGT	0.622																																							uc001hty.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)TAC>TAT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						69.0	65.0	67.0					1																	230846486		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846486G>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.111C>T	1.37:g.230846486G>A						AGT_uc009xfe.2_Silent_p.Y37Y|AGT_uc009xff.2_Silent_p.Y37Y	p.Y37Y	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	619	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	37					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.111C>T	CCDS1585.1																																																																																				0.622	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		35	57	0	0	0	0.002445	0	35	57				
LYST	1130	broad.mit.edu	37	1	235969542	235969542	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:235969542G>C	ENST00000389794.3	-	6	3068	c.2894C>G	c.(2893-2895)tCt>tGt	p.S965C	LYST_ENST00000389793.2_Missense_Mutation_p.S965C|LYST_ENST00000536965.1_Missense_Mutation_p.S965C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	965					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)		p.S965C(1)		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)			ACGACACATAGACCAAATGTC	0.418																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2893-2895)TCT>TGT		lysosomal trafficking regulator							103.0	100.0	101.0					1																	235969542		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.chr1:235969542G>C	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.2894C>G	1.37:g.235969542G>C	ENSP00000374444:p.Ser965Cys					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S965C	p.S965C	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3069	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	965					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2894C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101901	0.76983	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.64803	-0.12;-0.12;1.01	5.7	4.79	0.61399	.	0.512745	0.22785	N	0.055668	T	0.69242	0.3089	L	0.47716	1.5	0.47819	D	0.999523	D;D	0.65815	0.995;0.966	P;P	0.57548	0.823;0.695	T	0.72304	-0.4333	10	0.72032	D	0.01	.	14.3793	0.66900	0.0713:0.0:0.9287:0.0	.	965;965	Q99698-3;Q99698	.;LYST_HUMAN	C	965	ENSP00000374444:S965C;ENSP00000374443:S965C;ENSP00000438315:S965C	ENSP00000374443:S965C	S	-	2	0	LYST	234036165	1.000000	0.71417	0.832000	0.32986	0.997000	0.91878	6.578000	0.74032	1.417000	0.47077	0.655000	0.94253	TCT		0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			67	106	0	0	0	0.00361	0	67	106				
ACTN2	88	broad.mit.edu	37	1	236906299	236906299	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236906299A>T	ENST00000366578.4	+	11	1377	c.1211A>T	c.(1210-1212)gAg>gTg	p.E404V	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.E404V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	404					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.E404V(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CACCTGGCTGAGAAGTTCAGG	0.527																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1210-1212)GAG>GTG		actinin, alpha 2							106.0	98.0	101.0					1																	236906299		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236906299A>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1211A>T	1.37:g.236906299A>T	ENSP00000355537:p.Glu404Val					ACTN2_uc001hyg.2_Missense_Mutation_p.E196V|ACTN2_uc009xgi.1_Missense_Mutation_p.E404V|ACTN2_uc010pxu.1_Missense_Mutation_p.E93V|ACTN2_uc001hyh.2_Missense_Mutation_p.E92V	p.E404V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		11	1415	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	404			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1211A>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944546	0.73672	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.52754	0.65;0.65	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.87456	2.885	0.80722	D	1	B;B;P;B	0.34780	0.156;0.219;0.468;0.023	P;B;P;B	0.48368	0.575;0.229;0.575;0.062	T	0.70854	-0.4759	10	0.87932	D	0	.	12.3826	0.55315	0.8596:0.1404:0.0:0.0	.	189;404;174;404	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	V	404;404;173	ENSP00000443495:E404V;ENSP00000355537:E404V	ENSP00000355537:E404V	E	+	2	0	ACTN2	234972922	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	7.375000	0.79646	2.197000	0.70478	0.533000	0.62120	GAG		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		14	63	0	0	0	0.001855	0	14	63				
ACTN2	88	broad.mit.edu	37	1	236906314	236906314	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236906314A>G	ENST00000366578.4	+	11	1392	c.1226A>G	c.(1225-1227)aAg>aGg	p.K409R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K409R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	409					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.K409R(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTCAGGCAGAAGGCCTCAACG	0.522																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1225-1227)AAG>AGG		actinin, alpha 2							106.0	97.0	100.0					1																	236906314		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236906314A>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1226A>G	1.37:g.236906314A>G	ENSP00000355537:p.Lys409Arg					ACTN2_uc001hyg.2_Missense_Mutation_p.K201R|ACTN2_uc009xgi.1_Missense_Mutation_p.K409R|ACTN2_uc010pxu.1_Missense_Mutation_p.K98R|ACTN2_uc001hyh.2_Missense_Mutation_p.K97R	p.K409R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		11	1430	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	409			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1226A>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894072	0.72639	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.51817	0.69;0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.71674	0.996;0.998;0.998;0.947	D;D;D;D	0.91635	0.999;0.98;0.999;0.984	T	0.81004	-0.1129	10	0.49607	T	0.09	.	15.8487	0.78910	1.0:0.0:0.0:0.0	.	194;409;179;409	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	R	409;409;178	ENSP00000443495:K409R;ENSP00000355537:K409R	ENSP00000355537:K409R	K	+	2	0	ACTN2	234972937	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	9.332000	0.96446	2.197000	0.70478	0.533000	0.62120	AAG		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		19	63	0	0	0	0.010504	0	19	63				
ACTN2	88	broad.mit.edu	37	1	236912547	236912547	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236912547A>G	ENST00000366578.4	+	14	1805	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	ACTN2_ENST00000546208.1_Missense_Mutation_p.S41G|ACTN2_ENST00000542672.1_Missense_Mutation_p.S547G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	547					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.S547G(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CATTGTCCACAGCATTGAGGA	0.443																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1639-1641)AGC>GGC		actinin, alpha 2							109.0	97.0	101.0					1																	236912547		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236912547A>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1639A>G	1.37:g.236912547A>G	ENSP00000355537:p.Ser547Gly					ACTN2_uc001hyg.2_Missense_Mutation_p.S339G|ACTN2_uc009xgi.1_Missense_Mutation_p.S547G|ACTN2_uc010pxu.1_Missense_Mutation_p.S236G|ACTN2_uc001hyh.2_Missense_Mutation_p.S235G	p.S547G	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		14	1843	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	547			Spectrin 3.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1639A>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423517	0.62733	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.71222	-0.55;-0.55;-0.55	5.55	5.55	0.83447	.	0.641632	0.17446	N	0.173951	T	0.73606	0.3608	M	0.81802	2.56	0.51233	D	0.999911	B;P;P;B	0.42827	0.408;0.791;0.697;0.239	B;B;B;B	0.38712	0.28;0.169;0.28;0.036	T	0.78947	-0.2003	10	0.87932	D	0	.	15.6977	0.77512	1.0:0.0:0.0:0.0	.	332;547;317;547	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	G	547;547;41;316	ENSP00000443495:S547G;ENSP00000355537:S547G;ENSP00000438384:S41G	ENSP00000355537:S547G	S	+	1	0	ACTN2	234979170	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.307000	0.96226	2.101000	0.63845	0.533000	0.62120	AGC		0.443	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		28	78	0	0	0	0.004656	0	28	78				
NLRP3	114548	broad.mit.edu	37	1	247582216	247582216	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247582216C>A	ENST00000336119.3	+	1	866	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NLRP3_ENST00000391827.2_Silent_p.P40P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P40P|NLRP3_ENST00000348069.2_Silent_p.P40P|NLRP3_ENST00000366497.2_Silent_p.P40P|NLRP3_ENST00000391828.3_Silent_p.P40P	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	40	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)	p.P40P(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCATCCCCCTCCCGAGGG	0.567																																							uc001icr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(118-120)CCC>CCA		NLR family, pyrin domain containing 3 isoform a							52.0	47.0	49.0					1																	247582216		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582216C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.120C>A	1.37:g.247582216C>A						NLRP3_uc001ics.2_Silent_p.P40P|NLRP3_uc001icu.2_Silent_p.P40P|NLRP3_uc001icw.2_Silent_p.P40P|NLRP3_uc001icv.2_Silent_p.P40P|NLRP3_uc010pyw.1_Silent_p.P38P|NLRP3_uc001ict.1_Silent_p.P38P	p.P40P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	258	+	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)	40			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.120C>A	CCDS1632.1																																																																																				0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		13	39	1	0	0.00185496	0.001855	0.00199202	13	39				
NLRP3	114548	broad.mit.edu	37	1	247587692	247587692	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247587692G>T	ENST00000336119.3	+	3	1693	c.947G>T	c.(946-948)gGa>gTa	p.G316V	NLRP3_ENST00000391827.2_Missense_Mutation_p.G316V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.G316V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G316V|NLRP3_ENST00000366497.2_Missense_Mutation_p.G316V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G316V	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	316	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.G316V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGCACATAGGACCGCTCTGC	0.567																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(946-948)GGA>GTA		NLR family, pyrin domain containing 3 isoform a							69.0	69.0	69.0					1																	247587692		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.chr1:247587692G>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.947G>T	1.37:g.247587692G>T	ENSP00000337383:p.Gly316Val					NLRP3_uc001ics.2_Missense_Mutation_p.G316V|NLRP3_uc001icu.2_Missense_Mutation_p.G316V|NLRP3_uc001icw.2_Missense_Mutation_p.G316V|NLRP3_uc001icv.2_Missense_Mutation_p.G316V|NLRP3_uc010pyw.1_Missense_Mutation_p.G314V|NLRP3_uc001ict.1_Missense_Mutation_p.G314V	p.G316V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1085	+	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)	316			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.947G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.702031	0.03255	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74421	-0.76;-0.78;-0.76;-0.84;-0.78;-0.81	4.04	0.815	0.18763	NACHT nucleoside triphosphatase (1);	0.380726	0.22821	N	0.055240	T	0.69351	0.3101	L	0.46614	1.455	0.19575	N	0.999961	B;P;P;P;B	0.52316	0.233;0.525;0.952;0.545;0.266	B;B;P;B;B	0.53722	0.232;0.177;0.733;0.34;0.266	T	0.58572	-0.7613	10	0.20046	T	0.44	.	5.1917	0.15212	0.5475:0.0:0.4525:0.0	.	316;316;316;316;316	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	316	ENSP00000375704:G316V;ENSP00000355453:G316V;ENSP00000337383:G316V;ENSP00000294752:G316V;ENSP00000355452:G316V;ENSP00000375703:G316V	ENSP00000337383:G316V	G	+	2	0	NLRP3	245654315	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-1.073000	0.03430	0.165000	0.19558	0.563000	0.77884	GGA		0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		18	79	1	0	2.94398e-08	0.007413	3.57542e-08	18	79				
OR2B11	127623	broad.mit.edu	37	1	247614514	247614514	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247614514T>A	ENST00000318749.6	-	1	794	c.771A>T	c.(769-771)ctA>ctT	p.L257L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L257L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAATCGCAGGTAGGTAGAAGA	0.517																																							uc010pyx.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(769-771)CTA>CTT		olfactory receptor, family 2, subfamily B,							153.0	152.0	152.0					1																	247614514		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614514T>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.771A>T	1.37:g.247614514T>A							p.L257L	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	771	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	257			Helical; Name=6; (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.771A>T	CCDS31090.1																																																																																				0.517	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		29	148	0	0	0	0.00632	0	29	148				
OR2B11	127623	broad.mit.edu	37	1	247614915	247614915	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247614915G>C	ENST00000318749.6	-	1	393	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L124M(1)|p.L124V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGCGGTCCAGGGCCATGGCG	0.607																																							uc010pyx.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(370-372)CTG>GTG		olfactory receptor, family 2, subfamily B,																																				SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614915G>C		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.370C>G	1.37:g.247614915G>C	ENSP00000325682:p.Leu124Val						p.L124V	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	370	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	124			Helical; Name=3; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.370C>G	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.760059	0.31137	.	.	ENSG00000177535	ENST00000318749	T	0.03301	3.98	4.96	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	1.029610	0.07741	N	0.946988	T	0.02807	0.0084	N	0.13043	0.29	0.24421	N	0.994617	B	0.22276	0.067	B	0.15052	0.012	T	0.43589	-0.9382	10	0.62326	D	0.03	.	5.0426	0.14467	0.1838:0.1749:0.6413:0.0	.	124	Q5JQS5	OR2BB_HUMAN	V	124	ENSP00000325682:L124V	ENSP00000325682:L124V	L	-	1	2	OR2B11	245681538	0.000000	0.05858	1.000000	0.80357	0.886000	0.51366	0.658000	0.24979	0.765000	0.33221	0.551000	0.68910	CTG		0.607	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		17	70	0	0	0	0.004007	0	17	70				
OR2G2	81470	broad.mit.edu	37	1	247751975	247751975	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247751975A>T	ENST00000320065.1	+	1	314	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y105F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTTCACCTTTACAACTCCCAT	0.542																																							uc010pyy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)TAC>TTC		olfactory receptor, family 2, subfamily G,							236.0	186.0	203.0					1																	247751975		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751975A>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.314A>T	1.37:g.247751975A>T	ENSP00000326349:p.Tyr105Phe						p.Y105F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	314	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		105			Helical; Name=3; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.314A>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	2.158	-0.392866	0.04899	.	.	ENSG00000177489	ENST00000320065	T	0.01560	4.77	4.17	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	0.256670	0.19968	U	0.102048	T	0.01730	0.0055	N	0.11000	0.08	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.40156	-0.9578	10	0.06757	T	0.87	.	4.1113	0.10060	0.58:0.0:0.2741:0.1458	.	105	Q8NGZ5	OR2G2_HUMAN	F	105	ENSP00000326349:Y105F	ENSP00000326349:Y105F	Y	+	2	0	OR2G2	245818598	0.000000	0.05858	0.115000	0.21578	0.019000	0.09904	-0.062000	0.11674	-0.092000	0.12417	-0.391000	0.06502	TAC		0.542	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			33	150	0	0	0	0.003271	0	33	150				
OR2G3	81469	broad.mit.edu	37	1	247769494	247769494	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247769494A>T	ENST00000320002.2	+	1	639	c.607A>T	c.(607-609)Agt>Tgt	p.S203C	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S203C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTTGTTGTTAGTGTTCTGTT	0.448																																							uc010pyz.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(607-609)AGT>TGT		olfactory receptor, family 2, subfamily G,							275.0	231.0	246.0					1																	247769494		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769494A>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.607A>T	1.37:g.247769494A>T	ENSP00000326301:p.Ser203Cys						p.S203C	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	607	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		203			Helical; Name=5; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.607A>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	A	9.004	0.980826	0.18812	.	.	ENSG00000177476	ENST00000320002	T	0.38887	1.11	3.52	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	U	0.000644	T	0.39733	0.1089	L	0.48986	1.54	0.09310	N	1	B	0.33857	0.429	B	0.42593	0.392	T	0.26258	-1.0108	10	0.41790	T	0.15	.	6.9603	0.24593	0.8829:0.0:0.1171:0.0	.	203	Q8NGZ4	OR2G3_HUMAN	C	203	ENSP00000326301:S203C	ENSP00000326301:S203C	S	+	1	0	OR2G3	245836117	0.000000	0.05858	0.004000	0.12327	0.257000	0.26127	-1.080000	0.03407	0.527000	0.28560	0.317000	0.21355	AGT		0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			28	99	0	0	0	0.00632	0	28	99				
OR13G1	441933	broad.mit.edu	37	1	247835474	247835474	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247835474C>G	ENST00000359688.2	-	1	891	c.870G>C	c.(868-870)caG>caC	p.Q290H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q290H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCCCTATTCTGGAAGCTGT	0.448																																							uc001idi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)CAG>CAC		olfactory receptor, family 13, subfamily G,							106.0	113.0	111.0					1																	247835474		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835474C>G	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.870G>C	1.37:g.247835474C>G	ENSP00000352717:p.Gln290His						p.Q290H	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	870	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		290			Cytoplasmic (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.870G>C	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	3.406	-0.121300	0.06838	.	.	ENSG00000197437	ENST00000359688	T	0.37058	1.22	4.2	-0.178	0.13303	.	0.453672	0.16230	N	0.223629	T	0.18676	0.0448	N	0.08118	0	0.09310	N	0.999999	B	0.34241	0.444	B	0.39738	0.308	T	0.16778	-1.0391	10	0.87932	D	0	-6.4285	4.1418	0.10196	0.1499:0.471:0.2917:0.0874	.	290	Q8NGZ3	O13G1_HUMAN	H	290	ENSP00000352717:Q290H	ENSP00000352717:Q290H	Q	-	3	2	OR13G1	245902097	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-0.741000	0.04855	-0.112000	0.11979	-0.309000	0.09137	CAG		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		30	114	0	0	0	0.008361	0	30	114				
OR11L1	391189	broad.mit.edu	37	1	248004727	248004727	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:248004727G>A	ENST00000355784.2	-	1	527	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158M(1)|p.L158L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGAAGGCAGAAAGCCTGTG	0.582																																							uc001idn.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(472-474)CTG>TTG		olfactory receptor, family 11, subfamily L,							83.0	82.0	82.0					1																	248004727		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004727G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.472C>T	1.37:g.248004727G>A							p.L158L	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	472	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		158			Helical; Name=4; (Potential).			Silent	SNP	ENST00000355784.2	37	c.472C>T	CCDS31098.1																																																																																				0.582	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		4	113	0	0	0	0.009096	0	4	113				
OR2L3	391192	broad.mit.edu	37	1	248224682	248224682	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:248224682G>T	ENST00000359959.3	+	1	699	c.699G>T	c.(697-699)agG>agT	p.R233S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(697-699)AGG>AGT		olfactory receptor, family 2, subfamily L,							180.0	162.0	168.0					1																	248224682		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224682G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.699G>T	1.37:g.248224682G>T	ENSP00000353044:p.Arg233Ser					OR2L13_uc001ids.2_Intron	p.R233S	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	699	+	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)		233			Cytoplasmic (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.699G>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286631	0.10513	.	.	ENSG00000198128	ENST00000359959	T	0.00311	8.15	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.486789	0.15282	U	0.270606	T	0.00468	0.0015	M	0.76938	2.355	0.09310	N	1	D	0.59767	0.986	D	0.63113	0.911	T	0.48647	-0.9017	10	0.87932	D	0	.	5.6237	0.17470	0.4184:0.0:0.5816:0.0	.	233	Q8NG85	OR2L3_HUMAN	S	233	ENSP00000353044:R233S	ENSP00000353044:R233S	R	+	3	2	OR2L3	246291305	0.000000	0.05858	0.189000	0.23252	0.006000	0.05464	0.079000	0.14782	0.175000	0.19841	0.462000	0.41574	AGG		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		55	236	1	0	6.30371e-39	0.00361	9.95803e-39	55	236				
SFMBT2	57713	broad.mit.edu	37	10	7244452	7244452	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:7244452G>C	ENST00000361972.4	-	13	1567	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P493A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	493					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P493A(1)		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						TGTTTCTCTGGTTGCACGACT	0.398																																							uc009xio.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1477-1479)CCA>GCA		Scm-like with four mbt domains 2							172.0	145.0	154.0					10																	7244452		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7244452G>C	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.1477C>G	10.37:g.7244452G>C	ENSP00000355109:p.Pro493Ala					SFMBT2_uc001ijn.1_Missense_Mutation_p.P493A|SFMBT2_uc010qay.1_Intron	p.P493A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			13	1568	-			493					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1477C>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960949	0.53400	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.41758	0.99;0.99	5.53	4.62	0.57501	.	0.781774	0.12453	N	0.467613	T	0.51143	0.1657	M	0.75777	2.31	0.80722	D	1	P	0.52463	0.953	P	0.45195	0.473	T	0.56926	-0.7898	10	0.62326	D	0.03	.	15.0782	0.72093	0.0:0.0:0.8578:0.1422	.	493	Q5VUG0	SMBT2_HUMAN	A	493	ENSP00000355109:P493A;ENSP00000380353:P493A	ENSP00000355109:P493A	P	-	1	0	SFMBT2	7284458	1.000000	0.71417	0.942000	0.38095	0.710000	0.40934	6.568000	0.73987	1.307000	0.44944	0.655000	0.94253	CCA		0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		16	38	0	0	0	0.006122	0	16	38				
ITIH5	80760	broad.mit.edu	37	10	7683889	7683889	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:7683889C>T	ENST00000256861.6	-	3	378		c.e3+1		ITIH5_ENST00000397146.2_Splice_Site|ITIH5_ENST00000397145.2_Splice_Site|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGTCACCTACATAGTGAAGT	0.488																																							uc001ijq.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.e3+1		inter-alpha trypsin inhibitor heavy chain							159.0	136.0	144.0					10																	7683889		2203	4300	6503	SO:0001630	splice_region_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7683889C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.299+1G>A	10.37:g.7683889C>T						ITIH5_uc001ijr.1_Splice_Site_p.M100_splice	p.M100_splice	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			3	378	-								Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Splice_Site	SNP	ENST00000256861.6	37	c.299_splice		.	.	.	.	.	.	.	.	.	.	C	17.66	3.443850	0.63067	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8445	0.96703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITIH5	7723895	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	7.380000	0.79704	2.695000	0.91970	0.462000	0.41574	.		0.488	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	Intron	10	116	0	0	0	0.001368	0	10	116				
CUBN	8029	broad.mit.edu	37	10	16980992	16980992	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:16980992T>C	ENST00000377833.4	-	38	5768	c.5703A>G	c.(5701-5703)gaA>gaG	p.E1901E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1901	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E1901E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTTTGTATTTCTTCTATGT	0.358																																							uc001ioo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5701-5703)GAA>GAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	107.0	110.0					10																	16980992		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16980992T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5703A>G	10.37:g.16980992T>C							p.E1901E	NM_001081	NP_001072	O60494	CUBN_HUMAN			38	5755	-			1901			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5703A>G	CCDS7113.1																																																																																				0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		30	62	0	0	0	0.003271	0	30	62				
SLC39A12	221074	broad.mit.edu	37	10	18270268	18270268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:18270268G>T	ENST00000377369.2	+	6	1225	c.952G>T	c.(952-954)Gag>Tag	p.E318*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E318*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E318*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E184*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	318					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.E318*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAGCTGGTGGAGATATTTCT	0.453																																							uc001ipo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(952-954)GAG>TAG		solute carrier family 39 (zinc transporter),							91.0	89.0	89.0					10																	18270268		2203	4300	6503	SO:0001587	stop_gained	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270268G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.952G>T	10.37:g.18270268G>T	ENSP00000366586:p.Glu318*					SLC39A12_uc001ipn.2_Nonsense_Mutation_p.E318*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.E318*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.E184*	p.E318*	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1225	+			318			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	ENST00000377369.2	37	c.952G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	40	8.148703	0.98678	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	5.63	4.73	0.59995	.	0.410002	0.31221	N	0.008037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-8.2728	8.86	0.35251	0.2372:0.0:0.7628:0.0	.	.	.	.	X	318;318;318;184;238	.	ENSP00000366586:E318X	E	+	1	0	SLC39A12	18310274	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.884000	0.56175	1.396000	0.46663	0.655000	0.94253	GAG		0.453	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		15	66	1	0	2.31682e-05	0.003163	2.60344e-05	15	66				
GPR158	57512	broad.mit.edu	37	10	25886724	25886724	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:25886724C>A	ENST00000376351.3	+	11	2528	c.2169C>A	c.(2167-2169)gcC>gcA	p.A723A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	723					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)	p.A723A(1)		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						AACTCTATGCCCAACTGGAAA	0.418																																							uc001isj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2167-2169)GCC>GCA		G protein-coupled receptor 158 precursor							71.0	82.0	78.0					10																	25886724		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886724C>A	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.2169C>A	10.37:g.25886724C>A						GPR158_uc001isk.2_Silent_p.A98A	p.A723A	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2229	+			723			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2169C>A	CCDS31166.1																																																																																				0.418	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		38	84	1	0	2.05212e-20	0.005524	3.00243e-20	38	84				
GAD2	2572	broad.mit.edu	37	10	26508011	26508011	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:26508011C>A	ENST00000376261.3	+	4	829	c.326C>A	c.(325-327)gCg>gAg	p.A109E	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Missense_Mutation_p.A109E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	109					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)	p.A109E(1)		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						CCCACTTTGGCGTTTCTGCAA	0.363																																							uc001isp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(325-327)GCG>GAG		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						99.0	96.0	97.0					10																	26508011		2203	4300	6503	SO:0001583	missense	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.chr10:26508011C>A	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.326C>A	10.37:g.26508011C>A	ENSP00000365437:p.Ala109Glu					GAD2_uc009xkr.2_Missense_Mutation_p.A109E|GAD2_uc001isq.2_Missense_Mutation_p.A109E	p.A109E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			4	829	+			109					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.326C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	8.584	0.882967	0.17467	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.58506	0.33;0.33;0.33	5.91	5.91	0.95273	Pyridoxal phosphate-dependent transferase, major domain (1);	0.294837	0.38111	N	0.001801	T	0.35278	0.0926	N	0.11064	0.09	0.80722	D	1	P;B	0.43701	0.815;0.006	B;B	0.35727	0.209;0.006	T	0.42799	-0.9430	10	0.02654	T	1	-10.0739	20.2985	0.98592	0.0:1.0:0.0:0.0	.	109;109	Q4G154;Q05329	.;DCE2_HUMAN	E	109	ENSP00000365437:A109E;ENSP00000259271:A109E;ENSP00000390434:A109E	ENSP00000259271:A109E	A	+	2	0	GAD2	26548017	0.999000	0.42202	0.968000	0.41197	0.984000	0.73092	4.350000	0.59392	2.793000	0.96121	0.655000	0.94253	GCG		0.363	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		31	45	1	0	1.74807e-11	0.002096	2.25825e-11	31	45				
GAD2	2572	broad.mit.edu	37	10	26575391	26575391	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:26575391G>C	ENST00000376261.3	+	13	1857	c.1354G>C	c.(1354-1356)Gtt>Ctt	p.V452L	GAD2_ENST00000259271.3_Missense_Mutation_p.V452L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	452					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)	p.V452L(1)		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						CCACGTTGATGTTTTTAAACT	0.438																																							uc001isp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1354-1356)GTT>CTT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						111.0	91.0	98.0					10																	26575391		2203	4300	6503	SO:0001583	missense	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.chr10:26575391G>C	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.1354G>C	10.37:g.26575391G>C	ENSP00000365437:p.Val452Leu					GAD2_uc001isq.2_Missense_Mutation_p.V452L	p.V452L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			13	1857	+			452					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1354G>C	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917880	0.33815	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.37411	1.2;1.2	4.98	4.08	0.47627	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.061993	0.64402	D	0.000004	T	0.44787	0.1310	M	0.85373	2.75	0.80722	D	1	B	0.24721	0.11	B	0.31390	0.129	T	0.47598	-0.9105	10	0.66056	D	0.02	-12.3334	9.6164	0.39694	0.159:0.0:0.841:0.0	.	452	Q05329	DCE2_HUMAN	L	452	ENSP00000365437:V452L;ENSP00000259271:V452L	ENSP00000259271:V452L	V	+	1	0	GAD2	26615397	1.000000	0.71417	0.817000	0.32601	0.436000	0.31835	5.913000	0.69957	1.099000	0.41499	0.655000	0.94253	GTT		0.438	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		29	46	0	0	0	0.00632	0	29	46				
ANKRD26	22852	broad.mit.edu	37	10	27306605	27306605	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:27306605A>G	ENST00000376087.4	-	30	4497	c.4332T>C	c.(4330-4332)tgT>tgC	p.C1444C	ANKRD26_ENST00000436985.2_Silent_p.C1460C|ANKRD26_ENST00000376070.3_Silent_p.C1001C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1443					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.C1444C(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTAGTTTTTCACATTTCTTTT	0.348																																							uc001ith.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4327-4329)TGT>TGC		ankyrin repeat domain 26							84.0	76.0	78.0					10																	27306605		1798	4070	5868	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27306605A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4332T>C	10.37:g.27306605A>G						ANKRD26_uc001itg.2_Silent_p.C1130C|ANKRD26_uc009xku.1_Silent_p.C1444C	p.C1443C	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			30	4501	-			1443			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.4329T>C	CCDS41499.1																																																																																				0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			5	89	0	0	0	0.000602	0	5	89				
ZNF33A	7581	broad.mit.edu	37	10	38345105	38345105	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:38345105A>G	ENST00000458705.2	+	5	2208	c.2050A>G	c.(2050-2052)Aga>Gga	p.R684G	ZNF33A_ENST00000307441.9_Missense_Mutation_p.R684G|ZNF33A_ENST00000374618.3_Missense_Mutation_p.R685G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R691G|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R684G(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTCCATGAGAGAAAGCACAC	0.398																																							uc001izh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2050-2052)AGA>GGA		zinc finger protein 33A isoform b							100.0	100.0	100.0					10																	38345105		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345105A>G	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.2050A>G	10.37:g.38345105A>G	ENSP00000387713:p.Arg684Gly					ZNF33A_uc001izg.2_Missense_Mutation_p.R685G|ZNF33A_uc010qev.1_Missense_Mutation_p.R691G|ZNF33A_uc001izi.1_Intron	p.R684G	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2228	+			684			C2H2-type 13.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2050A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275546	0.23307	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34777	N	0.003694	T	0.43612	0.1255	M	0.77486	2.375	0.27963	N	0.936717	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.997;0.999	T	0.22138	-1.0225	10	0.66056	D	0.02	.	3.6673	0.08261	0.7931:0.0:0.2069:0.0	.	691;684;685	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	G	685;691;684;684	ENSP00000363747:R685G;ENSP00000402467:R691G;ENSP00000387713:R684G;ENSP00000304268:R684G	ENSP00000304268:R684G	R	+	1	2	ZNF33A	38385111	0.294000	0.24380	0.945000	0.38365	0.164000	0.22412	0.775000	0.26689	0.864000	0.35578	0.260000	0.18958	AGA		0.398	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		30	87	0	0	0	0.008361	0	30	87				
HNRNPF	3185	broad.mit.edu	37	10	43882738	43882738	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:43882738G>T	ENST00000544000.1	-	4	1002	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	HNRNPF_ENST00000337970.3_Missense_Mutation_p.L199M|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.L199M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L199M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.L199M	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	199					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L199M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATGAACTTCAGAGGGGGATCT	0.562																																							uc009xmh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(595-597)CTG>ATG		heterogeneous nuclear ribonucleoprotein F							88.0	81.0	83.0					10																	43882738		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882738G>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.595C>A	10.37:g.43882738G>T	ENSP00000438061:p.Leu199Met					HNRNPF_uc001jar.2_Missense_Mutation_p.L199M|HNRNPF_uc001jas.2_Missense_Mutation_p.L199M|HNRNPF_uc001jat.2_Missense_Mutation_p.L199M|HNRNPF_uc001jav.2_Missense_Mutation_p.L199M|HNRNPF_uc001jau.2_Missense_Mutation_p.L199M|uc010qfa.1_Missense_Mutation_p.Q140H	p.L199M	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	1082	-			199					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.595C>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	6.529	0.465825	0.12402	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	3.95	3.04	0.35103	.	0.061307	0.64402	D	0.000007	T	0.06050	0.0157	N	0.19112	0.55	0.26664	N	0.971862	B	0.20887	0.049	B	0.20184	0.028	T	0.27905	-1.0060	10	0.31617	T	0.26	-16.3409	5.135	0.14930	0.1064:0.0:0.6905:0.2031	.	199	P52597	HNRPF_HUMAN	M	199;199;199;199;199;122	ENSP00000438061:L199M;ENSP00000400433:L199M;ENSP00000348345:L199M;ENSP00000349573:L199M;ENSP00000338477:L199M	ENSP00000338477:L199M	L	-	1	2	HNRNPF	43202744	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	2.753000	0.47524	1.244000	0.43870	0.655000	0.94253	CTG		0.562	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			28	88	1	0	2.48779e-11	0.005443	3.19493e-11	28	88				
RBP3	5949	broad.mit.edu	37	10	48389931	48389931	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:48389931G>T	ENST00000224600.4	-	1	1060	c.947C>A	c.(946-948)gCc>gAc	p.A316D	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	316	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.A316D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GATGGCCAGGGCTTTCTCCAG	0.687																																							uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(946-948)GCC>GAC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						31.0	31.0	31.0					10																	48389931		2203	4299	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389931G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.947C>A	10.37:g.48389931G>T	ENSP00000224600:p.Ala316Asp						p.A316D	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1061	-			316			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.947C>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136176	0.77662	.	.	ENSG00000107618	ENST00000224600	T	0.67171	-0.25	5.43	5.43	0.79202	.	0.120867	0.53938	D	0.000060	D	0.87277	0.6137	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90636	0.4571	10	0.87932	D	0	-34.2448	18.2231	0.89907	0.0:0.0:1.0:0.0	.	316	P10745	RET3_HUMAN	D	316	ENSP00000224600:A316D	ENSP00000224600:A316D	A	-	2	0	RBP3	48009937	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.065000	0.93941	2.571000	0.86741	0.561000	0.74099	GCC		0.687	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	38	1	0	0.000978159	0.000978	0.00105826	10	38				
OGDHL	55753	broad.mit.edu	37	10	50959877	50959877	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:50959877T>C	ENST00000374103.4	-	6	830	c.745A>G	c.(745-747)Atg>Gtg	p.M249V	OGDHL_ENST00000419399.1_Missense_Mutation_p.M192V|OGDHL_ENST00000432695.1_Missense_Mutation_p.M40V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	249					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.M249V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCAACCTCATGGAGCGCACT	0.627																																							uc001jie.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(745-747)ATG>GTG		oxoglutarate dehydrogenase-like isoform a							70.0	74.0	73.0					10																	50959877		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959877T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.745A>G	10.37:g.50959877T>C	ENSP00000363216:p.Met249Val					OGDHL_uc009xog.2_Missense_Mutation_p.M276V|OGDHL_uc010qgt.1_Missense_Mutation_p.M192V|OGDHL_uc010qgu.1_Missense_Mutation_p.M40V|OGDHL_uc009xoh.2_Missense_Mutation_p.M40V	p.M249V	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			6	887	-			249					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.745A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989883	0.54041	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95307	2.64;2.64;-3.67	5.57	5.57	0.84162	Dehydrogenase, E1 component (1);	0.049760	0.85682	D	0.000000	T	0.79070	0.4384	N	0.00084	-2.205	0.42385	D	0.992502	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.77321	-0.2631	10	0.54805	T	0.06	.	15.737	0.77853	0.0:0.0:0.0:1.0	.	192;40;249	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	249;192;40	ENSP00000363216:M249V;ENSP00000401356:M192V;ENSP00000390240:M40V	ENSP00000363216:M249V	M	-	1	0	OGDHL	50629883	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.983000	0.70540	2.123000	0.65237	0.533000	0.62120	ATG		0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		19	71	0	0	0	0.007413	0	19	71				
PARG	8505	broad.mit.edu	37	10	51077590	51077590	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:51077590C>G	ENST00000402038.3	-	6	544	c.545G>C	c.(544-546)gGa>gCa	p.G182A		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	667	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.G667A(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGATGAACGTCCCTCAAACAA	0.318																																							uc001jif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1999-2001)GGA>GCA		poly (ADP-ribose) glycohydrolase							116.0	87.0	96.0					10																	51077590		692	1591	2283	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51077590C>G	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.545G>C	10.37:g.51077590C>G	ENSP00000384408:p.Gly182Ala					PARG_uc001jih.2_Missense_Mutation_p.G667A|PARG_uc001jig.2_Missense_Mutation_p.G253A|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.G558A|PARG_uc009xoj.2_Missense_Mutation_p.G218A|PARG_uc010qgx.1_Missense_Mutation_p.G585A	p.G667A	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	10	2261	-			667					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.2000G>C		.	.	.	.	.	.	.	.	.	.	c	14.86	2.662017	0.47572	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.71	3.71	0.42584	.	0.085817	0.46758	U	0.000278	T	0.56426	0.1984	L	0.41492	1.28	.	.	.	P;P;D;P;P;P	0.52996	0.909;0.926;0.957;0.86;0.917;0.926	P;P;P;B;P;P	0.56563	0.61;0.801;0.615;0.314;0.462;0.801	T	0.63950	-0.6521	8	0.33141	T	0.24	-7.1445	14.0262	0.64586	0.0:1.0:0.0:0.0	.	585;667;218;182;207;667	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	A	182	.	ENSP00000384408:G182A	G	-	2	0	PARG	50747596	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.981000	0.70524	1.805000	0.52779	0.306000	0.20318	GGA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	8	0	0	0	0.001168	0	4	8				
PCDH15	65217	broad.mit.edu	37	10	55582281	55582281	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:55582281G>T	ENST00000320301.6	-	33	5599	c.5205C>A	c.(5203-5205)gcC>gcA	p.A1735A	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1712A|PCDH15_ENST00000361849.3_Silent_p.A1737A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A1732A|PCDH15_ENST00000437009.1_Silent_p.A1666A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Silent_p.A1695A|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1735					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1735A(2)|p.A1742A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGTGGATGGGCAAAATTTT	0.463										HNSCC(58;0.16)																													uc001jju.1		NA																	3	Substitution - coding silent(3)		large_intestine(2)|lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5203-5205)GCC>GCA		protocadherin 15 isoform CD1-4 precursor							35.0	36.0	36.0					10																	55582281		2203	4299	6502	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582281G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5205C>A	10.37:g.55582281G>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.A1732A|PCDH15_uc010qhw.1_Silent_p.A1695A|PCDH15_uc010qhx.1_Silent_p.A1666A|PCDH15_uc010qhy.1_Silent_p.A1742A|PCDH15_uc010qhz.1_Silent_p.A1737A|PCDH15_uc010qia.1_Silent_p.A1715A|PCDH15_uc010qib.1_Silent_p.A1712A	p.A1735A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5600	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1735			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.5205C>A	CCDS7248.1																																																																																				0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	17	1	0	0.004672	0.004672	0.00497434	3	17				
PCDH15	65217	broad.mit.edu	37	10	55944963	55944963	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:55944963A>T	ENST00000320301.6	-	12	1765	c.1371T>A	c.(1369-1371)acT>acA	p.T457T	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.T457T|PCDH15_ENST00000395433.1_Silent_p.T435T|PCDH15_ENST00000361849.3_Silent_p.T457T|PCDH15_ENST00000373965.2_Silent_p.T464T|PCDH15_ENST00000395446.1_Silent_p.T457T|PCDH15_ENST00000373957.3_Silent_p.T435T|PCDH15_ENST00000373955.1_Silent_p.T457T|PCDH15_ENST00000409834.1_Silent_p.T68T|PCDH15_ENST00000395445.1_Silent_p.T464T|PCDH15_ENST00000395430.1_Silent_p.T457T|PCDH15_ENST00000437009.1_Silent_p.T457T|PCDH15_ENST00000414778.1_Silent_p.T462T|PCDH15_ENST00000395432.2_Silent_p.T420T|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T462T(2)|p.T457T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGTAATACCAGTCTGTGTGA	0.398										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1369-1371)ACT>ACA		protocadherin 15 isoform CD1-4 precursor							172.0	151.0	158.0					10																	55944963		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944963A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1371T>A	10.37:g.55944963A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.T462T|PCDH15_uc010qhr.1_Silent_p.T457T|PCDH15_uc010qhs.1_Silent_p.T469T|PCDH15_uc010qht.1_Silent_p.T464T|PCDH15_uc010qhu.1_Silent_p.T457T|PCDH15_uc001jjv.1_Silent_p.T435T|PCDH15_uc010qhv.1_Silent_p.T457T|PCDH15_uc010qhw.1_Silent_p.T420T|PCDH15_uc010qhx.1_Silent_p.T457T|PCDH15_uc010qhy.1_Silent_p.T462T|PCDH15_uc010qhz.1_Silent_p.T457T|PCDH15_uc010qia.1_Silent_p.T435T|PCDH15_uc010qib.1_Silent_p.T435T|PCDH15_uc001jjw.2_Silent_p.T457T	p.T457T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			12	1766	-		Melanoma(3;0.117)|Lung SC(717;0.238)	457			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1371T>A	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	50	0	0	0	0.002096	0	27	50				
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:56106133C>A	ENST00000320301.6	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(586-588)GAT>TAT		protocadherin 15 isoform CD1-4 precursor							119.0	114.0	116.0					10																	56106133		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106133C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.586G>T	10.37:g.56106133C>A	ENSP00000322604:p.Asp196Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D201Y|PCDH15_uc010qht.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D196Y|PCDH15_uc001jjv.1_Missense_Mutation_p.D174Y|PCDH15_uc010qhv.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D196Y|PCDH15_uc010qia.1_Missense_Mutation_p.D174Y|PCDH15_uc010qib.1_Missense_Mutation_p.D174Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D196Y	p.D196Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			6	981	-		Melanoma(3;0.117)|Lung SC(717;0.238)	196			Extracellular (Potential).|Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.586G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760515	0.69763	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;2.39;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58963	0.2159	L	0.54323	1.7	0.24435	N	0.994558	D;P;D;D;P;P;D;P;D;D;P;P;P;P;D	0.58970	0.971;0.951;0.971;0.971;0.941;0.901;0.971;0.552;0.984;0.984;0.88;0.552;0.488;0.949;0.971	P;P;P;P;P;B;P;B;P;P;P;B;B;P;P	0.62649	0.905;0.722;0.863;0.808;0.722;0.396;0.905;0.363;0.793;0.793;0.485;0.363;0.353;0.722;0.863	T	0.53892	-0.8374	9	0.72032	D	0.01	.	8.2797	0.31894	0.0:0.8314:0.0:0.1686	.	174;196;196;201;196;196;196;196;196;196;196;201;196;174;196	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	196;201;196;196;196;196;196;196;196;196;174;174;196;196;201;196;196	ENSP00000363076:D196Y;ENSP00000410304:D201Y;ENSP00000378826:D196Y;ENSP00000378832:D196Y;ENSP00000378833:D196Y;ENSP00000378829:D196Y;ENSP00000378827:D196Y;ENSP00000378820:D196Y;ENSP00000354950:D196Y;ENSP00000378821:D174Y;ENSP00000363068:D174Y;ENSP00000322604:D196Y;ENSP00000378818:D196Y;ENSP00000412628:D196Y;ENSP00000363066:D196Y	ENSP00000322604:D196Y	D	-	1	0	PCDH15	55776139	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.772000	0.38552	2.514000	0.84764	0.650000	0.86243	GAT		0.308	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		24	93	1	0	1.22574e-08	0.002299	1.50541e-08	24	93				
BICC1	80114	broad.mit.edu	37	10	60548170	60548170	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:60548170G>A	ENST00000373886.3	+	6	591	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	196	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R196Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAATCTGCCCGAGTTAGAATT	0.308																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(586-588)CGA>CAA		bicaudal C homolog 1							68.0	76.0	73.0					10																	60548170		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60548170G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.587G>A	10.37:g.60548170G>A	ENSP00000362993:p.Arg196Gln						p.R196Q	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			6	587	+			196			KH 1.			Missense_Mutation	SNP	ENST00000373886.3	37	c.587G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244354	0.95272	.	.	ENSG00000122870	ENST00000373886	T	0.30981	1.51	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.63373	-0.6652	10	0.62326	D	0.03	-8.3463	19.7318	0.96183	0.0:0.0:1.0:0.0	.	196	Q9H694	BICC1_HUMAN	Q	196	ENSP00000362993:R196Q	ENSP00000362993:R196Q	R	+	2	0	BICC1	60218176	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.266000	0.89871	2.661000	0.90470	0.650000	0.86243	CGA		0.308	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		16	30	0	0	0	0.006122	0	16	30				
PBLD	64081	broad.mit.edu	37	10	70056647	70056647	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:70056647T>A	ENST00000358769.2	-	3	382	c.180A>T	c.(178-180)gcA>gcT	p.A60A	PBLD_ENST00000336578.1_Silent_p.A27A|PBLD_ENST00000432941.1_Silent_p.A60A|PBLD_ENST00000309049.4_Silent_p.A60A|PBLD_ENST00000495025.2_Silent_p.A60A	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	60					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.A60A(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ATTTACTTTGTGCAAAGTTGT	0.438																																							uc001jns.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(178-180)GCA>GCT		MAWD binding protein isoform a							140.0	135.0	137.0					10																	70056647		2203	4300	6503	SO:0001819	synonymous_variant	64081				biosynthetic process		isomerase activity	g.chr10:70056647T>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.180A>T	10.37:g.70056647T>A						PBLD_uc001jnr.1_Silent_p.A27A|PBLD_uc001jnt.1_Silent_p.A60A|PBLD_uc001jnu.1_Silent_p.A60A|PBLD_uc001jnv.1_Silent_p.A60A	p.A60A	NM_022129	NP_071412	P30039	PBLD_HUMAN			3	383	-			60					A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	ENST00000358769.2	37	c.180A>T	CCDS7277.2																																																																																				0.438	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		16	75	0	0	0	0.003163	0	16	75				
HK1	3098	broad.mit.edu	37	10	71103616	71103616	+	Missense_Mutation	SNP	G	G	T	rs375425117		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:71103616G>T	ENST00000359426.6	+	2	201	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	HK1_ENST00000404387.2_Missense_Mutation_p.D37Y|HK1_ENST00000360289.2_Missense_Mutation_p.D21Y|HK1_ENST00000448642.2_Missense_Mutation_p.D68Y|HK1_ENST00000298649.3_Missense_Mutation_p.D32Y|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	33	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.D37Y(1)|p.D32Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCGGCTCTCCGATGAAACTCT	0.522																																							uc001jpl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(97-99)GAT>TAT		hexokinase 1 isoform HKI							156.0	150.0	152.0					10																	71103616		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71103616G>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.97G>T	10.37:g.71103616G>T	ENSP00000352398:p.Asp33Tyr					HK1_uc009xqc.1_Silent_p.P96P|HK1_uc001jpg.3_Missense_Mutation_p.D21Y|HK1_uc001jph.3_Missense_Mutation_p.D37Y|HK1_uc001jpi.3_Missense_Mutation_p.D37Y|HK1_uc001jpj.3_Missense_Mutation_p.D68Y|HK1_uc001jpk.3_Missense_Mutation_p.D32Y|HK1_uc009xqd.2_5'UTR	p.D33Y	NM_000188	NP_000179	P19367	HXK1_HUMAN			2	198	+			33			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.97G>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125513	0.77436	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.31	5.31	0.75309	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.79805	2.47	0.80722	D	1	B;B;P;P;P	0.41366	0.326;0.329;0.747;0.56;0.553	B;B;B;B;B	0.43155	0.313;0.254;0.41;0.214;0.101	D	0.99748	1.1017	10	0.87932	D	0	-2.7937	18.9772	0.92742	0.0:0.0:1.0:0.0	.	33;32;68;37;21	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	Y	37;21;68;21;37;32;32;33;33	ENSP00000409761:D37Y;ENSP00000353433:D21Y;ENSP00000402103:D68Y;ENSP00000398316:D21Y;ENSP00000384774:D37Y;ENSP00000415949:D32Y;ENSP00000298649:D32Y;ENSP00000352398:D33Y	ENSP00000298649:D32Y	D	+	1	0	HK1	70773622	1.000000	0.71417	0.981000	0.43875	0.361000	0.29550	9.439000	0.97543	2.485000	0.83878	0.655000	0.94253	GAT		0.522	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		40	118	1	0	2.26627e-22	0.007835	3.36087e-22	40	118				
CDH23	64072	broad.mit.edu	37	10	73455252	73455252	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:73455252G>T	ENST00000224721.6	+	21	2387	c.2382G>T	c.(2380-2382)gaG>gaT	p.E794D	CDH23_ENST00000299366.7_Missense_Mutation_p.E834D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	789	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E794D(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGGTGGAGATGACCCCTC	0.597																																							uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2365-2367)GAG>GAT		cadherin-like 23 isoform 1 precursor							102.0	111.0	108.0					10																	73455252		2099	4229	6328	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73455252G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2382G>T	10.37:g.73455252G>T	ENSP00000224721:p.Glu794Asp					CDH23_uc001jry.2_Missense_Mutation_p.E405D|CDH23_uc001jrz.2_Missense_Mutation_p.E405D	p.E789D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			21	2744	+			789			Cadherin 8.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2367G>T		.	.	.	.	.	.	.	.	.	.	G	26.3	4.724654	0.89298	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	4.93	4.02	0.46733	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	M	0.88181	2.935	0.80722	D	1	P;D;D	0.71674	0.725;0.998;0.993	P;D;D	0.77557	0.522;0.99;0.946	T	0.82380	-0.0486	9	0.87932	D	0	.	9.9853	0.41839	0.1753:0.0:0.8247:0.0	.	789;792;789	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	D	794;789;789;792;792;306	.	ENSP00000224721:E794D	E	+	3	2	CDH23	73125258	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.364000	0.44187	1.301000	0.44836	0.655000	0.94253	GAG		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	39	1	0	0.00829132	0.008291	0.00878497	9	39				
SEC24C	9632	broad.mit.edu	37	10	75527670	75527670	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:75527670C>A	ENST00000339365.2	+	16	2248	c.2086C>A	c.(2086-2088)Ctc>Atc	p.L696I	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.L577I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.L696I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CTGTGTAGATCTCTTTCTCTT	0.517																																							uc001juw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2086-2088)CTC>ATC		SEC24-related protein C							167.0	151.0	157.0					10																	75527670		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75527670C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2086C>A	10.37:g.75527670C>A	ENSP00000343405:p.Leu696Ile					SEC24C_uc009xrj.1_Missense_Mutation_p.L554I|SEC24C_uc001jux.2_Missense_Mutation_p.L696I|SEC24C_uc010qko.1_Missense_Mutation_p.L577I|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.L696I	NM_004922	NP_004913	P53992	SC24C_HUMAN			16	2265	+	Prostate(51;0.0112)		696					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2086C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956793	0.92726	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.77489	-1.1;-1.1;-1.1	5.98	5.98	0.97165	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.67397	2.05	0.80722	D	1	P;D;D	0.69078	0.938;0.963;0.997	P;D;D	0.75020	0.908;0.958;0.985	D	0.85324	0.1086	10	0.49607	T	0.09	-14.9084	13.6313	0.62196	0.0:0.9295:0.0:0.0705	.	577;696;696	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	I	696;696;577	ENSP00000321845:L696I;ENSP00000343405:L696I;ENSP00000402913:L577I	ENSP00000343405:L696I	L	+	1	0	SEC24C	75197676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.094000	0.57721	2.847000	0.97988	0.591000	0.81541	CTC		0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			6	69	1	0	2.0095e-06	0.001984	2.32398e-06	6	69				
NDST2	8509	broad.mit.edu	37	10	75563708	75563708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:75563708C>A	ENST00000309979.6	-	10	2466	c.1910G>T	c.(1909-1911)aGc>aTc	p.S637I	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.S637I|NDST2_ENST00000299641.4_Missense_Mutation_p.S514I			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	637	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.S637I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTCAAATGTGCTGGGGCTAGG	0.502																																							uc001jvk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1909-1911)AGC>ATC		heparan glucosaminyl							144.0	143.0	143.0					10																	75563708		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563708C>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1910G>T	10.37:g.75563708C>A	ENSP00000310657:p.Ser637Ile					NDST2_uc010qks.1_Missense_Mutation_p.S263I|NDST2_uc010qkt.1_Missense_Mutation_p.S514I|NDST2_uc001jvl.1_Missense_Mutation_p.S44I|NDST2_uc009xro.2_Missense_Mutation_p.S263I|NDST2_uc010qku.1_Missense_Mutation_p.S512I	p.S637I	NM_003635	NP_003626	P52849	NDST2_HUMAN			10	2714	-	Prostate(51;0.0112)		637			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1910G>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766560	0.31228	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	D;D	0.83250	-1.7;-1.7	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.331184	0.39020	N	0.001484	T	0.72590	0.3479	N	0.24115	0.695	0.39023	D	0.959774	B;B;B;B	0.10296	0.002;0.002;0.003;0.001	B;B;B;B	0.17433	0.008;0.008;0.008;0.018	T	0.68633	-0.5357	10	0.48119	T	0.1	.	10.6567	0.45680	0.1253:0.6973:0.1774:0.0	.	514;307;160;637	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	I	637;514	ENSP00000310657:S637I;ENSP00000299641:S514I	ENSP00000299641:S514I	S	-	2	0	NDST2	75233714	0.878000	0.30173	1.000000	0.80357	0.996000	0.88848	0.800000	0.27042	2.825000	0.97269	0.655000	0.94253	AGC		0.502	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		32	97	1	0	2.08457e-15	0.002096	2.88073e-15	32	97				
LRIT1	26103	broad.mit.edu	37	10	85993978	85993978	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:85993978C>A	ENST00000372105.3	-	3	767	c.746G>T	c.(745-747)aGg>aTg	p.R249M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	249	LRRCT.					integral component of endoplasmic reticulum membrane (GO:0030176)		p.R249M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGGCACTTCCTCAGTTCAAG	0.607																																							uc001kcz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(745-747)AGG>ATG		retina specific protein PAL							80.0	78.0	79.0					10																	85993978		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85993978C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.746G>T	10.37:g.85993978C>A	ENSP00000361177:p.Arg249Met						p.R249M	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			3	768	-			249			LRRCT.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.746G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968133	0.74131	.	.	ENSG00000148602	ENST00000372105	T	0.53423	0.62	5.91	4.05	0.47172	Cysteine-rich flanking region, C-terminal (1);	0.244160	0.47455	D	0.000225	T	0.66127	0.2758	M	0.86420	2.815	0.58432	D	0.999996	D	0.60575	0.988	P	0.58928	0.848	T	0.70745	-0.4788	10	0.49607	T	0.09	.	11.1564	0.48491	0.0:0.8497:0.0:0.1503	.	249	Q9P2V4	LRIT1_HUMAN	M	249	ENSP00000361177:R249M	ENSP00000361177:R249M	R	-	2	0	LRIT1	85983958	0.258000	0.24033	0.996000	0.52242	0.996000	0.88848	1.472000	0.35376	1.494000	0.48533	0.655000	0.94253	AGG		0.607	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		16	60	1	0	1.3612e-06	0.003163	1.57842e-06	16	60				
RNLS	55328	broad.mit.edu	37	10	90341368	90341368	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:90341368G>A	ENST00000331772.4	-	3	345	c.323C>T	c.(322-324)cCt>cTt	p.P108L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000371947.3_Missense_Mutation_p.P108L|RNLS_ENST00000437752.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	108					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.P108L(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AATTCCTTGAGGTGCCACAAA	0.353																																							uc001kfe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CCT>CTT		renalase isoform 1							54.0	56.0	55.0					10																	90341368		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90341368G>A	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.323C>T	10.37:g.90341368G>A	ENSP00000332530:p.Pro108Leu					RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.P108L	p.P108L	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN			3	458	-			108					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.323C>T	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521439	0.85600	.	.	ENSG00000184719	ENST00000371947;ENST00000331772	T;D	0.95821	3.02;-3.82	5.69	5.69	0.88448	.	0.109676	0.64402	D	0.000005	D	0.96796	0.8954	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.61592	0.891;0.888	D	0.95334	0.8432	10	0.22706	T	0.39	.	17.3103	0.87207	0.0:0.0:1.0:0.0	.	108;108	Q5VYX0;Q5VYX0-2	RNLS_HUMAN;.	L	108	ENSP00000361015:P108L;ENSP00000332530:P108L	ENSP00000332530:P108L	P	-	2	0	RNLS	90331348	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.095000	0.76952	2.683000	0.91414	0.655000	0.94253	CCT		0.353	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		10	40	0	0	0	0.008291	0	10	40				
BTAF1	9044	broad.mit.edu	37	10	93717010	93717010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:93717010G>T	ENST00000265990.6	+	8	1168	c.860G>T	c.(859-861)tGt>tTt	p.C287F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	287					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C287F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAAGCTTTTGTGAAGAACTT	0.323																																							uc001khr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(859-861)TGT>TTT		BTAF1 RNA polymerase II, B-TFIID transcription							111.0	108.0	109.0					10																	93717010		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93717010G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.860G>T	10.37:g.93717010G>T	ENSP00000265990:p.Cys287Phe					BTAF1_uc009xua.1_RNA|BTAF1_uc001khs.1_5'UTR	p.C287F	NM_003972	NP_003963	O14981	BTAF1_HUMAN			8	958	+		Colorectal(252;0.0846)	287					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.860G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865725	0.51588	.	.	ENSG00000095564	ENST00000265990	T	0.63580	-0.05	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.047036	0.85682	D	0.000000	T	0.58666	0.2138	M	0.62266	1.93	0.80722	D	1	P	0.35745	0.518	B	0.30316	0.114	T	0.60495	-0.7252	10	0.45353	T	0.12	-6.8041	15.7775	0.78236	0.0:0.1355:0.8645:0.0	.	287	O14981	BTAF1_HUMAN	F	287	ENSP00000265990:C287F	ENSP00000265990:C287F	C	+	2	0	BTAF1	93706990	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.421000	0.66447	2.814000	0.96858	0.563000	0.77884	TGT		0.323	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		14	55	1	0	1.05317e-09	0.00245	1.32329e-09	14	55				
BTAF1	9044	broad.mit.edu	37	10	93784522	93784522	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:93784522G>T	ENST00000265990.6	+	35	5181	c.4873G>T	c.(4873-4875)Gac>Tac	p.D1625Y	BTAF1_ENST00000544642.1_Missense_Mutation_p.D453Y	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1625					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1625Y(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTGCTGTTGGACTGCGGTTT	0.428																																							uc001khr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4873-4875)GAC>TAC		BTAF1 RNA polymerase II, B-TFIID transcription							77.0	71.0	73.0					10																	93784522		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93784522G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4873G>T	10.37:g.93784522G>T	ENSP00000265990:p.Asp1625Tyr						p.D1625Y	NM_003972	NP_003963	O14981	BTAF1_HUMAN			35	4971	+		Colorectal(252;0.0846)	1625					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.4873G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855496	0.91355	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75821	-0.97;-0.97	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91010	0.4849	10	0.87932	D	0	-13.9444	20.3697	0.98890	0.0:0.0:1.0:0.0	.	1625	O14981	BTAF1_HUMAN	Y	1625;453;475	ENSP00000265990:D1625Y;ENSP00000439924:D453Y	ENSP00000265990:D1625Y	D	+	1	0	BTAF1	93774502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.822000	0.99363	2.811000	0.96726	0.655000	0.94253	GAC		0.428	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		17	56	1	0	6.49762e-13	0.006122	8.66349e-13	17	56				
KIF11	3832	broad.mit.edu	37	10	94388606	94388606	+	Missense_Mutation	SNP	T	T	A	rs188813523		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:94388606T>A	ENST00000260731.3	+	11	1349	c.1259T>A	c.(1258-1260)gTa>gAa	p.V420E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	420					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.V420E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAGATTGTAGAATTGATT	0.279																																					Colon(47;212 1003 2764 4062 8431)	Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1258-1260)GTA>GAA		kinesin family member 11							57.0	55.0	55.0					10																	94388606		2203	4299	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94388606T>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1259T>A	10.37:g.94388606T>A	ENSP00000260731:p.Val420Glu					KIF11_uc010qnq.1_Intron	p.V420E	NM_004523	NP_004514	P52732	KIF11_HUMAN			11	1567	+			420			Potential.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1259T>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724458	0.30593	.	.	ENSG00000138160	ENST00000260731	T	0.71341	-0.56	5.49	0.532	0.17114	.	0.478948	0.22463	N	0.059738	T	0.28665	0.0710	N	0.00788	-1.185	0.24931	N	0.991917	B	0.31769	0.339	B	0.27076	0.076	T	0.48843	-0.8999	10	0.02654	T	1	.	8.0598	0.30627	0.0:0.4986:0.0:0.5014	.	420	P52732	KIF11_HUMAN	E	420	ENSP00000260731:V420E	ENSP00000260731:V420E	V	+	2	0	KIF11	94378586	1.000000	0.71417	0.987000	0.45799	0.860000	0.49131	1.743000	0.38258	0.346000	0.23899	0.402000	0.26972	GTA		0.279	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		6	27	0	0	0	0.001168	0	6	27				
CYP2C19	1557	broad.mit.edu	37	10	96609673	96609673	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:96609673G>T	ENST00000371321.3	+	8	1231		c.e8-1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.?(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTGTTTCTAGGGCACAACCA	0.408																																							uc010qnz.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.e8-1		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						164.0	149.0	154.0					10																	96609673		2203	4300	6503	SO:0001630	splice_region_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96609673G>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1150-1G>T	10.37:g.96609673G>T						CYP2C19_uc010qny.1_Splice_Site_p.G362_splice	p.G384_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1150	+		Colorectal(252;0.09)						P33259|Q8WZB1|Q8WZB2|Q9UCD4	Splice_Site	SNP	ENST00000371321.3	37	c.1150_splice	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.931909	0.34096	.	.	ENSG00000165841	ENST00000371321	.	.	.	3.5	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0009	0.36081	0.1163:0.0:0.8837:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C19	96599663	1.000000	0.71417	0.281000	0.24762	0.052000	0.14988	8.323000	0.90002	0.576000	0.29452	0.603000	0.83216	.		0.408	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	Intron	21	103	1	0	1.42536e-11	0.004656	1.84957e-11	21	103				
C10orf12	26148	broad.mit.edu	37	10	98743640	98743640	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:98743640A>G	ENST00000286067.2	+	1	2600	c.2493A>G	c.(2491-2493)aaA>aaG	p.K831K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	831								p.K831K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAGGAACAAATCAGATAAAC	0.433																																							uc001kmv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(2491-2493)AAA>AAG		hypothetical protein LOC26148							72.0	69.0	70.0					10																	98743640		2203	4300	6503	SO:0001819	synonymous_variant	26148							g.chr10:98743640A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2493A>G	10.37:g.98743640A>G							p.K831K	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2600	+		Colorectal(252;0.172)	831					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.2493A>G	CCDS7452.1																																																																																				0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	26	0	0	0	0.009096	0	4	26				
DNMBP	23268	broad.mit.edu	37	10	101656083	101656083	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:101656083T>C	ENST00000324109.4	-	10	3083	c.2992A>G	c.(2992-2994)Atc>Gtc	p.I998V	DNMBP_ENST00000342239.3_Missense_Mutation_p.I1022V|DNMBP_ENST00000543621.1_Missense_Mutation_p.I244V|DNMBP_ENST00000540316.1_Intron	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	998					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I998V(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATTTCTTGATGATGGAGTGG	0.468																																							uc001kqj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2992-2994)ATC>GTC		dynamin binding protein							210.0	166.0	181.0					10																	101656083		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101656083T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2992A>G	10.37:g.101656083T>C	ENSP00000315659:p.Ile998Val					DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.I286V|DNMBP_uc001kqh.2_Missense_Mutation_p.I630V	p.I998V	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	10	3084	-		Colorectal(252;0.234)	998					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2992A>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.039025	0.35989	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.62364	0.03;0.03;0.03	5.32	4.19	0.49359	BAR (2);	0.134113	0.34002	N	0.004350	T	0.67878	0.2940	L	0.44542	1.39	0.80722	D	1	D;P;D	0.71674	0.998;0.801;0.998	D;B;D	0.83275	0.996;0.348;0.996	T	0.63475	-0.6629	10	0.29301	T	0.29	-20.9096	8.1857	0.31337	0.0:0.0714:0.134:0.7945	.	998;244;1022	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1022;998;244;244	ENSP00000344914:I1022V;ENSP00000315659:I998V;ENSP00000443657:I244V	ENSP00000315659:I998V	I	-	1	0	DNMBP	101646073	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.057000	0.64294	0.866000	0.35629	-0.388000	0.06559	ATC		0.468	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		7	40	0	0	0	0.00308	0	7	40				
SORCS3	22986	broad.mit.edu	37	10	107005408	107005408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:107005408G>T	ENST00000369701.3	+	21	3204	c.2977G>T	c.(2977-2979)Gag>Tag	p.E993*	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	993					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.E993*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACACAAAAGAGATTGCAGT	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2977-2979)GAG>TAG		VPS10 domain receptor protein SORCS 3 precursor							181.0	132.0	148.0					10																	107005408		2203	4300	6503	SO:0001587	stop_gained	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107005408G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2977G>T	10.37:g.107005408G>T	ENSP00000358715:p.Glu993*					SORCS3_uc010qqz.1_RNA	p.E993*	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	21	3204	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	993			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	ENST00000369701.3	37	c.2977G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	42	9.324027	0.99137	.	.	ENSG00000156395	ENST00000369701	.	.	.	5.96	5.05	0.67936	.	0.413933	0.27778	N	0.017900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6164	0.84917	0.0:0.0:0.8688:0.1312	.	.	.	.	X	993	.	.	E	+	1	0	SORCS3	106995398	1.000000	0.71417	0.987000	0.45799	0.888000	0.51559	3.046000	0.49846	1.508000	0.48769	0.650000	0.86243	GAG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	47	1	0	4.3838e-07	0.001855	5.15185e-07	14	47				
SORCS1	114815	broad.mit.edu	37	10	108923735	108923735	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:108923735T>C	ENST00000263054.6	-	1	557	c.550A>G	c.(550-552)Aac>Gac	p.N184D	SORCS1_ENST00000344440.6_Missense_Mutation_p.N184D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	184					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.N184D(2)		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)		ACGCTGCTGTTGTGGCCAGAC	0.557																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(550-552)AAC>GAC		SORCS receptor 1 isoform a							66.0	58.0	61.0					10																	108923735		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923735T>C	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.550A>G	10.37:g.108923735T>C	ENSP00000263054:p.Asn184Asp					SORCS1_uc001kyl.2_Missense_Mutation_p.N184D|SORCS1_uc009xxs.2_Missense_Mutation_p.N184D|SORCS1_uc001kyn.1_Missense_Mutation_p.N184D|SORCS1_uc001kyo.2_Missense_Mutation_p.N184D	p.N184D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	558	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	184			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.550A>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274424	0.80580	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.19394	2.15;2.15	5.16	5.16	0.70880	.	0.069409	0.52532	D	0.000066	T	0.22627	0.0546	L	0.39898	1.24	0.37866	D	0.929883	P;P;P;P;P	0.40660	0.546;0.675;0.726;0.605;0.675	B;B;B;B;B	0.43658	0.122;0.426;0.367;0.31;0.295	T	0.06807	-1.0806	9	.	.	.	-15.385	13.9552	0.64142	0.0:0.0:0.0:1.0	.	184;184;184;184;184	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	184	ENSP00000263054:N184D;ENSP00000345964:N184D	.	N	-	1	0	SORCS1	108913725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.086000	0.76885	2.153000	0.67306	0.533000	0.62120	AAC		0.557	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		10	27	0	0	0	0.000978	0	10	27				
GPR26	2849	broad.mit.edu	37	10	125426441	125426441	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:125426441C>T	ENST00000284674.1	+	1	571	c.518C>T	c.(517-519)aCt>aTt	p.T173I		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	173					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T173I(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCCGTCTTCACTGGCGCCTTC	0.667																																							uc001lhh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(517-519)ACT>ATT		G protein-coupled receptor 26							33.0	26.0	28.0					10																	125426441		2203	4297	6500	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426441C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.518C>T	10.37:g.125426441C>T	ENSP00000284674:p.Thr173Ile						p.T173I	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	571	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	173			Helical; Name=5; (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.518C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936237	0.34189	.	.	ENSG00000154478	ENST00000284674	T	0.36699	1.24	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.186355	0.45867	D	0.000326	T	0.36496	0.0969	M	0.69248	2.105	0.58432	D	0.999994	P	0.38420	0.63	B	0.37731	0.257	T	0.39981	-0.9587	10	0.87932	D	0	-25.1759	10.0662	0.42306	0.0:0.9068:0.0:0.0932	.	173	Q8NDV2	GPR26_HUMAN	I	173	ENSP00000284674:T173I	ENSP00000284674:T173I	T	+	2	0	GPR26	125416431	1.000000	0.71417	0.979000	0.43373	0.146000	0.21551	4.626000	0.61269	2.067000	0.61834	0.655000	0.94253	ACT		0.667	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			4	13	0	0	0	0.000602	0	4	13				
MKI67	4288	broad.mit.edu	37	10	129904199	129904199	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:129904199C>T	ENST00000368654.3	-	13	6280	c.5905G>A	c.(5905-5907)Gaa>Aaa	p.E1969K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1609K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1969	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1969K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCATTGATTCCTCAGTGTGA	0.483																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5905-5907)GAA>AAA		antigen identified by monoclonal antibody Ki-67							189.0	194.0	193.0					10																	129904199		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904199C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5905G>A	10.37:g.129904199C>T	ENSP00000357643:p.Glu1969Lys					MKI67_uc001lkf.2_Missense_Mutation_p.E1609K|MKI67_uc009yav.1_Missense_Mutation_p.E1544K|MKI67_uc009yaw.1_Missense_Mutation_p.E1119K	p.E1969K	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6100	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1969			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5905G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347852	0.24426	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01406	5.03;4.93	4.18	-0.216	0.13153	.	2.811640	0.01551	N	0.019668	T	0.01730	0.0055	L	0.41236	1.265	0.09310	N	1	B;B;B	0.21452	0.001;0.056;0.006	B;B;B	0.19946	0.004;0.027;0.003	T	0.48456	-0.9034	10	0.23891	T	0.37	.	4.5356	0.12026	0.0:0.3718:0.1641:0.4641	.	1968;1609;1969	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1969;1609;1968	ENSP00000357643:E1969K;ENSP00000357642:E1609K	ENSP00000357642:E1609K	E	-	1	0	MKI67	129794189	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.135000	0.11495	-1.106000	0.02097	GAA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		75	250	0	0	0	0.00361	0	75	250				
MKI67	4288	broad.mit.edu	37	10	129913427	129913427	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:129913427T>C	ENST00000368654.3	-	7	1620	c.1245A>G	c.(1243-1245)ccA>ccG	p.P415P	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	415					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P415P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGATTTTCTGGCTTAGTGG	0.433																																							uc001lke.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1243-1245)CCA>CCG		antigen identified by monoclonal antibody Ki-67							92.0	95.0	94.0					10																	129913427		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913427T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1245A>G	10.37:g.129913427T>C						MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.P415P	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1440	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	415					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.1245A>G	CCDS7659.1																																																																																				0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		25	61	0	0	0	0.00333	0	25	61				
EBF3	253738	broad.mit.edu	37	10	131666158	131666158	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:131666158G>A	ENST00000355311.5	-	9	872	c.800C>T	c.(799-801)gCc>gTc	p.A267V	EBF3_ENST00000368648.3_Missense_Mutation_p.A258V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	267	IPT/TIG.				multicellular organismal development (GO:0007275)|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)	p.A258V(1)|p.A267V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGACTGATGGCCTTGATGCA	0.607																																							uc001lki.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(772-774)GCC>GTC		early B-cell factor 3							101.0	83.0	89.0					10																	131666158		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666158G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.800C>T	10.37:g.131666158G>A	ENSP00000347463:p.Ala267Val						p.A258V	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	832	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	267			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.773C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.181519	0.94885	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.78707	-1.2;-1.2	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.61397	0.888	D	0.85856	0.1407	10	0.72032	D	0.01	-22.2042	20.3312	0.98718	0.0:0.0:1.0:0.0	.	258	Q9H4W6-2	.	V	267;258	ENSP00000347463:A267V;ENSP00000357637:A258V	ENSP00000347463:A267V	A	-	2	0	EBF3	131556148	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.782000	0.99034	2.894000	0.99253	0.655000	0.94253	GCC		0.607	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		12	31	0	0	0	0.001855	0	12	31				
TCERG1L	256536	broad.mit.edu	37	10	133106583	133106583	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:133106583C>A	ENST00000368642.4	-	3	646	c.561G>T	c.(559-561)ggG>ggT	p.G187G		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	187								p.G146G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCTTTTCATGCCCATGGAAAA	0.493																																							uc001lkp.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(559-561)GGG>GGT		transcription elongation regulator 1-like							74.0	72.0	73.0					10																	133106583		2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:133106583C>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.561G>T	10.37:g.133106583C>A							p.G187G	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	3	647	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	187					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.561G>T	CCDS7662.2																																																																																				0.493	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		10	48	1	0	0.00829132	0.008291	0.00878497	10	48				
B4GALNT4	338707	broad.mit.edu	37	11	376276	376276	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:376276A>T	ENST00000329962.6	+	13	1222	c.1222A>T	c.(1222-1224)Atg>Ttg	p.M408L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	408					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.M408L(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATACATGAAGATGGACAAGGA	0.672																																							uc001lpb.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1222-1224)ATG>TTG		beta							58.0	61.0	60.0					11																	376276		2195	4295	6490	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376276A>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1222A>T	11.37:g.376276A>T	ENSP00000328277:p.Met408Leu						p.M408L	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1231	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	408			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1222A>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	a	11.64	1.699431	0.30142	.	.	ENSG00000182272	ENST00000329962	T	0.05580	3.42	2.71	2.71	0.32032	.	0.331792	0.32041	N	0.006672	T	0.06962	0.0177	L	0.52126	1.63	0.43808	D	0.996362	B	0.33919	0.432	B	0.30316	0.114	T	0.28902	-1.0029	10	0.51188	T	0.08	-14.5682	11.6295	0.51166	1.0:0.0:0.0:0.0	.	408	Q76KP1	B4GN4_HUMAN	L	408	ENSP00000328277:M408L	ENSP00000328277:M408L	M	+	1	0	B4GALNT4	366276	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	3.132000	0.50523	1.477000	0.48234	0.358000	0.22013	ATG		0.672	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		8	38	0	0	0	0.004482	0	8	38				
MUC2	4583	broad.mit.edu	37	11	1075905	1075905	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:1075905G>C	ENST00000441003.2	+	2	358	c.331G>C	c.(331-333)Gtg>Ctg	p.V111L	MUC2_ENST00000359061.5_Missense_Mutation_p.V111L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	111	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		p.V111L(2)		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)	CCACCTGGCTGTGCTTAACGG	0.627																																							uc001lsx.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(331-333)GTG>CTG		mucin 2 precursor	Pranlukast(DB01411)						19.0	22.0	21.0					11																	1075905		1999	4150	6149	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075905G>C	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.331G>C	11.37:g.1075905G>C	ENSP00000415183:p.Val111Leu						p.V111L	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)	2	358	+		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)	111			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.331G>C		.	.	.	.	.	.	.	.	.	.	G	11.00	1.511159	0.27036	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.57595	0.39;0.39	3.78	3.78	0.43462	.	0.348813	0.23930	N	0.043142	T	0.32315	0.0825	N	0.05487	-0.04	0.22610	N	0.998939	B	0.18013	0.025	B	0.31290	0.127	T	0.10683	-1.0619	10	0.02654	T	1	.	15.7897	0.78345	0.0:0.0:1.0:0.0	.	111	E7EUV1	.	L	111	ENSP00000415183:V111L;ENSP00000351956:V111L	ENSP00000351956:V111L	V	+	1	0	MUC2	1065905	1.000000	0.71417	0.915000	0.36163	0.319000	0.28217	3.320000	0.51991	1.955000	0.56771	0.561000	0.74099	GTG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	6	0	0	0	0.004672	0	2	6				
KRTAP5-6	440023	broad.mit.edu	37	11	1718521	1718521	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:1718521G>T	ENST00000382160.1	+	1	97	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	16						keratin filament (GO:0045095)		p.G16C(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTGTGGGGGCTGTGGCTC	0.652																																							uc001lua.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GGC>TGC		keratin associated protein 5-6							65.0	83.0	77.0					11																	1718521		2200	4298	6498	SO:0001583	missense	440023					keratin filament		g.chr11:1718521G>T	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.46G>T	11.37:g.1718521G>T	ENSP00000371595:p.Gly16Cys						p.G16C	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	97	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	16					A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.46G>T	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	g	1.975	-0.435579	0.04669	.	.	ENSG00000205864	ENST00000382160	T	0.10763	2.84	3.39	2.45	0.29901	.	.	.	.	.	T	0.15825	0.0381	M	0.81497	2.545	0.24988	N	0.99156	B	0.28971	0.229	B	0.25506	0.061	T	0.10042	-1.0647	9	0.62326	D	0.03	.	9.888	0.41272	0.0:0.0:0.794:0.206	.	16	Q6L8G9	KRA56_HUMAN	C	16	ENSP00000371595:G16C	ENSP00000371595:G16C	G	+	1	0	KRTAP5-6	1675097	0.997000	0.39634	0.999000	0.59377	0.158000	0.22134	1.349000	0.33998	0.512000	0.28257	0.410000	0.27636	GGC		0.652	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			45	175	1	0	1.30916e-28	0.00361	2.01339e-28	45	175				
TRIM21	6737	broad.mit.edu	37	11	4406605	4406605	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:4406605G>A	ENST00000254436.7	-	7	1450	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	TRIM21_ENST00000543625.1_Silent_p.F446F	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F446F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGACTGAAGAAGGGCC	0.488																																							uc001lyy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1336-1338)TTC>TTT		tripartite motif protein 21							86.0	82.0	83.0					11																	4406605		1945	4146	6091	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4406605G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1338C>T	11.37:g.4406605G>A							p.F446F	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	7	1451	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	446			B30.2/SPRY.		Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.1338C>T	CCDS44525.1																																																																																				0.488	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		5	32	0	0	0	0.000602	0	5	32				
OR52K2	119774	broad.mit.edu	37	11	4470615	4470615	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:4470615T>G	ENST00000325719.4	+	1	91	c.46T>G	c.(46-48)Ttg>Gtg	p.L16V	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16V(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCTTCTTGTTGGTGGGGAT	0.512																																							uc001lyz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(46-48)TTG>GTG		olfactory receptor, family 52, subfamily K,							141.0	121.0	128.0					11																	4470615		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470615T>G	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.46T>G	11.37:g.4470615T>G	ENSP00000318956:p.Leu16Val						p.L16V	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	46	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	16			Extracellular (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.46T>G	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809590	0.31961	.	.	ENSG00000181963	ENST00000325719	T	0.00543	6.68	4.42	2.03	0.26663	.	0.000000	0.37809	N	0.001930	T	0.02047	0.0064	M	0.89601	3.045	0.22050	N	0.999391	D	0.76494	0.999	D	0.77557	0.99	T	0.29941	-0.9995	10	0.87932	D	0	.	4.8069	0.13325	0.0:0.4224:0.0:0.5776	.	16	Q8NGK3	O52K2_HUMAN	V	16	ENSP00000318956:L16V	ENSP00000318956:L16V	L	+	1	2	OR52K2	4427191	0.000000	0.05858	0.899000	0.35326	0.231000	0.25187	-0.401000	0.07232	0.729000	0.32403	0.402000	0.26972	TTG		0.512	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		11	100	0	0	0	0.001368	0	11	100				
C11orf42	160298	broad.mit.edu	37	11	6231320	6231320	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6231320C>A	ENST00000316375.2	+	2	363	c.313C>A	c.(313-315)Cga>Aga	p.R105R	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	105								p.R105R(1)|p.R105*(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAATGGCCGAGCAGAGAG	0.577																																							uc001mcj.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	ovary(1)	1						c.(313-315)CGA>AGA		hypothetical protein LOC160298							80.0	81.0	81.0					11																	6231320		2201	4296	6497	SO:0001819	synonymous_variant	160298							g.chr11:6231320C>A	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.313C>A	11.37:g.6231320C>A							p.R105R	NM_173525	NP_775796	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	361	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	105						Silent	SNP	ENST00000316375.2	37	c.313C>A	CCDS7759.1																																																																																				0.577	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		23	66	1	0	1.85244e-09	0.00333	2.31754e-09	23	66				
CCKBR	887	broad.mit.edu	37	11	6291926	6291926	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6291926C>A	ENST00000334619.2	+	4	897	c.704C>A	c.(703-705)gCc>gAc	p.A235D	CCKBR_ENST00000525462.1_Missense_Mutation_p.A235D|CCKBR_ENST00000532715.1_Missense_Mutation_p.A151D	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	235					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.A235D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTGGTTATGGCCGTGGCCTAC	0.567																																							uc001mcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(703-705)GCC>GAC		cholecystokinin B receptor	Pentagastrin(DB00183)						200.0	140.0	160.0					11																	6291926		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291926C>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.704C>A	11.37:g.6291926C>A	ENSP00000335544:p.Ala235Asp					CCKBR_uc001mcq.2_Missense_Mutation_p.A163D|CCKBR_uc001mcr.2_Missense_Mutation_p.A235D|CCKBR_uc001mcs.2_Missense_Mutation_p.A235D|CCKBR_uc001mct.1_5'Flank	p.A235D	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	897	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	235			Helical; Name=5; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.704C>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543511	0.65198	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.73152	-0.72;-0.72;-0.72	5.79	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.169852	0.49916	D	0.000129	T	0.81394	0.4813	M	0.87758	2.905	0.35572	D	0.805537	D;P;P	0.71674	0.998;0.886;0.952	P;P;P	0.62491	0.903;0.452;0.786	D	0.85046	0.0926	10	0.44086	T	0.13	.	6.3362	0.21296	0.0:0.6895:0.1621:0.1484	.	235;169;235	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	D	235;151;235	ENSP00000335544:A235D;ENSP00000432079:A151D;ENSP00000435534:A235D	ENSP00000335544:A235D	A	+	2	0	CCKBR	6248502	0.996000	0.38824	0.886000	0.34754	0.994000	0.84299	2.956000	0.49129	1.402000	0.46780	0.655000	0.94253	GCC		0.567	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		55	83	1	0	2.5401e-28	0.00361	3.89273e-28	55	83				
OR10A2	341276	broad.mit.edu	37	11	6891751	6891751	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6891751G>A	ENST00000307322.4	+	1	828	c.766G>A	c.(766-768)Gag>Aag	p.E256K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E256K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAATTCACCTGAGGGCAAGAA	0.423																																							uc001meu.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(766-768)GAG>AAG		olfactory receptor, family 10, subfamily A,							190.0	179.0	183.0					11																	6891751		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891751G>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.766G>A	11.37:g.6891751G>A	ENSP00000303862:p.Glu256Lys						p.E256K	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	766	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	256			Extracellular (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.766G>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	g	4.550	0.102036	0.08731	.	.	ENSG00000170790	ENST00000307322	T	0.00099	8.73	4.18	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.318910	0.26808	N	0.022387	T	0.00144	0.0004	L	0.33093	0.98	0.28608	N	0.908802	B	0.12630	0.006	B	0.26416	0.069	T	0.02232	-1.1191	10	0.28530	T	0.3	.	10.9132	0.47120	0.0:0.3693:0.6307:0.0	.	256	Q9H208	O10A2_HUMAN	K	256	ENSP00000303862:E256K	ENSP00000303862:E256K	E	+	1	0	OR10A2	6848327	0.002000	0.14202	0.998000	0.56505	0.016000	0.09150	0.338000	0.19858	1.128000	0.42052	-0.155000	0.13514	GAG		0.423	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		65	150	0	0	0	0.00361	0	65	150				
RBMXL2	27288	broad.mit.edu	37	11	7110638	7110638	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:7110638C>A	ENST00000306904.5	+	1	474	c.287C>A	c.(286-288)cCg>cAg	p.P96Q		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	96	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P96Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCGGGGCCCGCCGCCTCCC	0.746																																							uc001mfc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCG>CAG		testes-specific heterogenous nuclear							5.0	7.0	6.0					11																	7110638		2021	4012	6033	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110638C>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.287C>A	11.37:g.7110638C>A	ENSP00000304139:p.Pro96Gln						p.P96Q	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	474	+			96			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.287C>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050865	0.36181	.	.	ENSG00000170748	ENST00000306904	T	0.73897	-0.79	2.38	2.38	0.29361	.	0.000000	0.85682	U	0.000000	T	0.80454	0.4626	L	0.52823	1.66	0.43652	D	0.996066	D	0.76494	0.999	D	0.77004	0.989	T	0.80030	-0.1553	10	0.48119	T	0.1	.	10.8752	0.46906	0.0:1.0:0.0:0.0	.	96	O75526	HNRGT_HUMAN	Q	96	ENSP00000304139:P96Q	ENSP00000304139:P96Q	P	+	2	0	RBMXL2	7067214	0.916000	0.31088	0.100000	0.21137	0.093000	0.18481	3.002000	0.49496	1.614000	0.50241	0.305000	0.20034	CCG		0.746	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		5	7	1	0	0.00116845	0.001168	0.00125944	5	7				
IPO7	10527	broad.mit.edu	37	11	9455345	9455345	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:9455345C>T	ENST00000379719.3	+	18	2168	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	676					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.P676S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCAGCTACTACCCCTTGTATT	0.393																																							uc001mho.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(2026-2028)CCC>TCC		importin 7							84.0	80.0	81.0					11																	9455345		2201	4293	6494	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455345C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2026C>T	11.37:g.9455345C>T	ENSP00000369042:p.Pro676Ser						p.P676S	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	18	2168	+			676					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2026C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460648	0.26248	.	.	ENSG00000205339	ENST00000379719	T	0.70869	-0.52	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.73598	2.24	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.68492	-0.5394	10	0.32370	T	0.25	.	18.6961	0.91601	0.0:1.0:0.0:0.0	.	676	O95373	IPO7_HUMAN	S	676	ENSP00000369042:P676S	ENSP00000369042:P676S	P	+	1	0	IPO7	9411921	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	7.817000	0.86213	2.432000	0.82394	0.460000	0.39030	CCC		0.393	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		10	80	0	0	0	0.008291	0	10	80				
MRGPRX4	117196	broad.mit.edu	37	11	18194989	18194989	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:18194989C>A	ENST00000314254.3	+	1	606	c.186C>A	c.(184-186)tcC>tcA	p.S62S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S62S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ACGCTGTCTCCATCTACATCC	0.547																																							uc001mnv.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(184-186)TCC>TCA		MAS-related GPR, member X4							122.0	104.0	110.0					11																	18194989		2199	4293	6492	SO:0001819	synonymous_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194989C>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.186C>A	11.37:g.18194989C>A							p.S62S	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	606	+			62			Helical; Name=2; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	37	c.186C>A	CCDS7831.1																																																																																				0.547	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		24	91	1	0	8.24728e-16	0.004656	1.15435e-15	24	91				
LDHC	3948	broad.mit.edu	37	11	18434318	18434318	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:18434318C>G	ENST00000541669.1	+	2	165	c.54C>G	c.(52-54)aaC>aaG	p.N18K	LDHC_ENST00000535809.1_Missense_Mutation_p.N18K|LDHC_ENST00000544105.1_Missense_Mutation_p.N18K|LDHC_ENST00000280704.4_Missense_Mutation_p.N18K|LDHC_ENST00000546146.1_Missense_Mutation_p.N18K|LDHC_ENST00000537486.1_Missense_Mutation_p.N18K|LDHC_ENST00000536880.1_Missense_Mutation_p.N18K			P07864	LDHC_HUMAN	lactate dehydrogenase C	18					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.N18K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGATGAAAACTCCCAGTGTA	0.423																																							uc001mon.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)AAC>AAG		L-lactate dehydrogenase C	NADH(DB00157)						155.0	149.0	151.0					11																	18434318		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18434318C>G	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.54C>G	11.37:g.18434318C>G	ENSP00000437783:p.Asn18Lys					LDHC_uc001mom.3_Missense_Mutation_p.N18K|LDHC_uc009yhp.2_Missense_Mutation_p.N18K|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR	p.N18K	NM_017448	NP_059144	P07864	LDHC_HUMAN			2	166	+			18					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.54C>G	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	C	5.165	0.216066	0.09810	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000537486;ENST00000544105;ENST00000535809	D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.38	-6.49	0.01890	NAD(P)-binding domain (1);	2.649440	0.01422	N	0.014418	T	0.65512	0.2698	N	0.02842	-0.48	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68051	-0.5511	10	0.06365	T	0.9	11.6985	0.7617	0.01008	0.2214:0.1549:0.2183:0.4054	.	18;18	G3XAP5;P07864	.;LDHC_HUMAN	K	18	ENSP00000437783:N18K;ENSP00000280704:N18K;ENSP00000443414:N18K;ENSP00000439555:N18K;ENSP00000441478:N18K;ENSP00000439060:N18K;ENSP00000443997:N18K	ENSP00000280704:N18K	N	+	3	2	LDHC	18390894	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-1.167000	0.02779	-0.857000	0.03018	AAC		0.423	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		30	41	0	0	0	0.007291	0	30	41				
ANO5	203859	broad.mit.edu	37	11	22272548	22272548	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:22272548G>C	ENST00000324559.8	+	12	1488	c.1171G>C	c.(1171-1173)Gga>Cga	p.G391R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	391					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G391R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATATTCATGGGAATTTGGGG	0.303																																							uc001mqi.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1171-1173)GGA>CGA		anoctamin 5 isoform a							84.0	83.0	84.0					11																	22272548		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22272548G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1171G>C	11.37:g.22272548G>C	ENSP00000315371:p.Gly391Arg					ANO5_uc001mqj.2_Missense_Mutation_p.G390R	p.G391R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			12	1488	+			391			Helical; (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1171G>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347940	0.82022	.	.	ENSG00000171714	ENST00000324559	T	0.63096	-0.02	5.61	4.67	0.58626	.	0.098023	0.64402	D	0.000001	T	0.80449	0.4625	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.83842	0.0258	10	0.72032	D	0.01	.	15.6224	0.76816	0.0:0.0:0.8615:0.1385	.	391	Q75V66	ANO5_HUMAN	R	391	ENSP00000315371:G391R	ENSP00000315371:G391R	G	+	1	0	ANO5	22229124	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	7.463000	0.80869	1.296000	0.44742	0.557000	0.71058	GGA		0.303	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		10	31	0	0	0	0.001368	0	10	31				
KCNA4	3739	broad.mit.edu	37	11	30032523	30032523	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:30032523T>A	ENST00000328224.6	-	2	2936	c.1703A>T	c.(1702-1704)cAc>cTc	p.H568L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	568					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.H568L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AGTCTCTCTGTGGTAGAAATA	0.468																																							uc001msk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1702-1704)CAC>CTC		potassium voltage-gated channel, shaker-related							71.0	76.0	75.0					11																	30032523		2050	4205	6255	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032523T>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1703A>T	11.37:g.30032523T>A	ENSP00000328511:p.His568Leu						p.H568L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2855	-			568						Missense_Mutation	SNP	ENST00000328224.6	37	c.1703A>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627422	0.66901	.	.	ENSG00000182255	ENST00000328224	D	0.97041	-4.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.87328	2.875	0.80722	D	1	P	0.37423	0.594	B	0.24394	0.053	D	0.96295	0.9217	10	0.87932	D	0	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	568	P22459	KCNA4_HUMAN	L	568	ENSP00000328511:H568L	ENSP00000328511:H568L	H	-	2	0	KCNA4	29989099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.165000	0.68154	0.528000	0.53228	CAC		0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		25	45	0	0	0	0.00278	0	25	45				
CCDC73	493860	broad.mit.edu	37	11	32676475	32676475	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:32676475G>T	ENST00000335185.5	-	10	732	c.689C>A	c.(688-690)aCa>aAa	p.T230K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	230								p.T230K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATATTGACATGTGACTTTGGA	0.289																																							uc001mtv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(688-690)ACA>AAA		sarcoma antigen NY-SAR-79							94.0	81.0	85.0					11																	32676475		1800	4055	5855	SO:0001583	missense	493860							g.chr11:32676475G>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.689C>A	11.37:g.32676475G>T	ENSP00000335325:p.Thr230Lys					CCDC73_uc001mtw.1_Missense_Mutation_p.T230K	p.T230K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			10	733	-	Breast(20;0.112)		230					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.689C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472238	0.63737	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.67	3.8	0.43715	.	.	.	.	.	T	0.60560	0.2278	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.928;0.992	P;P	0.56648	0.463;0.803	T	0.56631	-0.7947	8	0.15066	T	0.55	.	10.2779	0.43521	0.1516:0.0:0.8484:0.0	.	230;230	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	K	230	.	ENSP00000335325:T230K	T	-	2	0	CCDC73	32633051	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	1.254000	0.32897	1.388000	0.46506	0.591000	0.81541	ACA		0.289	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		8	23	1	0	0.000157383	0.00308	0.000173062	8	23				
PHF21A	51317	broad.mit.edu	37	11	45991437	45991437	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:45991437G>A	ENST00000418153.2	-	8	827	c.628C>T	c.(628-630)Cct>Tct	p.P210S	PHF21A_ENST00000323180.6_Missense_Mutation_p.P211S|PHF21A_ENST00000257821.4_Missense_Mutation_p.P211S			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	210					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P210S(1)|p.P211S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGGGCTGAGGAGGTGTTGCC	0.403																																							uc001ncc.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(628-630)CCT>TCT		BRAF35/HDAC2 complex isoform a							88.0	75.0	79.0					11																	45991437		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45991437G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.628C>T	11.37:g.45991437G>A	ENSP00000398824:p.Pro210Ser					PHF21A_uc001ncb.3_Missense_Mutation_p.P211S|PHF21A_uc009ykx.2_Missense_Mutation_p.P211S|PHF21A_uc001nce.2_Missense_Mutation_p.P211S|PHF21A_uc001nca.1_5'UTR	p.P210S	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			8	1252	-			210					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.628C>T	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215952	0.58452	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.43688	0.94;0.94;0.94	5.73	5.73	0.89815	.	0.181701	0.49305	D	0.000143	T	0.27629	0.0679	N	0.22421	0.69	0.40785	D	0.983206	B;B	0.16603	0.013;0.018	B;B	0.16722	0.011;0.016	T	0.10800	-1.0614	10	0.09338	T	0.73	-5.5281	13.1314	0.59385	0.073:0.0:0.927:0.0	.	210;211	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	S	211;211;210	ENSP00000257821:P211S;ENSP00000323152:P211S;ENSP00000398824:P210S	ENSP00000257821:P211S	P	-	1	0	PHF21A	45948013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.647000	0.67923	2.713000	0.92767	0.655000	0.94253	CCT		0.403	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		10	10	0	0	0	0.001368	0	10	10				
ARFGAP2	84364	broad.mit.edu	37	11	47198363	47198363	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:47198363A>C	ENST00000524782.1	-	1	270	c.42T>G	c.(40-42)ttT>ttG	p.F14L	ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F14L|ARFGAP2_ENST00000319543.6_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	14	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.F14L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAAGCCTCTTAAAAAGAGTCT	0.647																																							uc001ndt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)TTT>TTG		ADP-ribosylation factor GTPase activating							51.0	54.0	53.0					11																	47198363		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198363A>C	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.42T>G	11.37:g.47198363A>C	ENSP00000434442:p.Phe14Leu					ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.F14L|ARFGAP2_uc001ndu.2_Missense_Mutation_p.F14L|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.F14L|ARFGAP2_uc001ndv.1_Missense_Mutation_p.F14L	p.F14L	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			1	57	-			14			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.42T>G	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950148	0.92660	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.41	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	N	0.21282	0.65	0.80722	D	1	B;B;B;P	0.41624	0.22;0.072;0.058;0.757	B;B;B;P	0.49799	0.298;0.323;0.217;0.622	T	0.09862	-1.0655	10	0.87932	D	0	-6.9881	4.6598	0.12637	0.5204:0.0:0.4796:0.0	.	14;14;14;14	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	L	14	ENSP00000400226:F14L;ENSP00000434442:F14L;ENSP00000437305:F14L;ENSP00000434433:F14L;ENSP00000431939:F14L;ENSP00000434809:F14L;ENSP00000431684:F14L;ENSP00000435488:F14L	ENSP00000400226:F14L	F	-	3	2	ARFGAP2	47154939	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.211000	0.42825	0.886000	0.36113	0.379000	0.24179	TTT		0.647	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		17	34	0	0	0	0.004007	0	17	34				
MADD	8567	broad.mit.edu	37	11	47330186	47330186	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:47330186A>T	ENST00000311027.5	+	25	3969	c.3804A>T	c.(3802-3804)gcA>gcT	p.A1268A	MADD_ENST00000402799.1_Silent_p.A1187A|MADD_ENST00000405573.2_Silent_p.A78A|MADD_ENST00000395336.3_Silent_p.A1268A|MADD_ENST00000406482.1_Silent_p.A1187A|MADD_ENST00000407859.3_Silent_p.A1207A|MADD_ENST00000342922.4_Silent_p.A1230A|MADD_ENST00000395344.3_Silent_p.A1183A|MADD_ENST00000402192.2_Silent_p.A1229A|MADD_ENST00000349238.3_Silent_p.A1250A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.A1268A(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGAAGCTGGCAGGCAGCCCCA	0.512																																							uc001ner.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3802-3804)GCA>GCT		MAP-kinase activating death domain-containing							68.0	67.0	67.0					11																	47330186		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47330186A>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3804A>T	11.37:g.47330186A>T						MADD_uc001neq.2_Silent_p.A1230A|MADD_uc001nev.1_Silent_p.A1187A|MADD_uc001nes.1_Silent_p.A1207A|MADD_uc001net.1_Silent_p.A1250A|MADD_uc009yln.1_Silent_p.A1183A|MADD_uc001neu.1_Silent_p.A1187A|MADD_uc001nex.2_Silent_p.A1268A|MADD_uc001nez.2_Silent_p.A1186A|MADD_uc001new.2_Silent_p.A1229A|MADD_uc009ylo.2_Silent_p.A182A	p.A1268A	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	25	3995	+			1268						Silent	SNP	ENST00000311027.5	37	c.3804A>T	CCDS7930.1																																																																																				0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			14	71	0	0	0	0.003163	0	14	71				
OR4B1	119765	broad.mit.edu	37	11	48238557	48238557	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:48238557T>C	ENST00000309562.2	+	1	214	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGCCTGTCCTTGGTGGAGAT	0.483																																							uc010rhs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(196-198)TTG>CTG		olfactory receptor, family 4, subfamily B,							183.0	169.0	174.0					11																	48238557		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238557T>C	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.196T>C	11.37:g.48238557T>C							p.L66L	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	196	+			66			Helical; Name=2; (Potential).		Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.196T>C	CCDS31485.1																																																																																				0.483	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		68	123	0	0	0	0.00361	0	68	123				
OR4C46	119749	broad.mit.edu	37	11	51515322	51515322	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:51515322G>A	ENST00000328188.1	+	1	41	c.41G>A	c.(40-42)gGg>gAg	p.G14E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14E(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTTTTGCTGGGGCTTACAGAG	0.333																																							uc010ric.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)GGG>GAG		olfactory receptor, family 4, subfamily C,							143.0	138.0	139.0					11																	51515322		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515322G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.41G>A	11.37:g.51515322G>A	ENSP00000329056:p.Gly14Glu						p.G14E	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	41	+			14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.41G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	10.97	1.502999	0.26949	.	.	ENSG00000185926	ENST00000328188	T	0.00655	5.95	2.63	2.63	0.31362	.	0.000000	0.37437	U	0.002096	T	0.06325	0.0163	H	0.95712	3.71	0.32068	N	0.594759	D	0.89917	1.0	D	0.78314	0.991	T	0.02958	-1.1089	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	14	A6NHA9	O4C46_HUMAN	E	14	ENSP00000329056:G14E	ENSP00000329056:G14E	G	+	2	0	OR4C46	51371898	1.000000	0.71417	0.451000	0.26982	0.026000	0.11368	5.218000	0.65257	1.513000	0.48852	0.134000	0.15878	GGG		0.333	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		25	91	0	0	0	0.003954	0	25	91				
OR4A15	81328	broad.mit.edu	37	11	55135885	55135885	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55135885G>A	ENST00000314706.3	+	1	526	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A176T(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTGTTGGCGGCCTGGATTGG	0.438																																							uc010rif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)GCC>ACC		olfactory receptor, family 4, subfamily A,							225.0	202.0	210.0					11																	55135885		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135885G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.526G>A	11.37:g.55135885G>A	ENSP00000325065:p.Ala176Thr						p.A176T	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	526	+			176			Helical; Name=4; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.526G>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	11.45	1.643843	0.29246	.	.	ENSG00000181958	ENST00000314706	T	0.37584	1.19	3.48	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.32315	0.0825	L	0.37697	1.125	0.09310	N	1	P	0.41214	0.742	P	0.48982	0.597	T	0.11324	-1.0592	10	0.52906	T	0.07	.	4.4565	0.11645	0.1138:0.0:0.5036:0.3826	.	176	Q8NGL6	O4A15_HUMAN	T	176	ENSP00000325065:A176T	ENSP00000325065:A176T	A	+	1	0	OR4A15	54892461	0.000000	0.05858	0.137000	0.22149	0.262000	0.26303	-0.183000	0.09712	0.151000	0.19162	0.492000	0.49549	GCC		0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		76	149	0	0	0	0.00361	0	76	149				
OR4C15	81309	broad.mit.edu	37	11	55321892	55321892	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55321892A>G	ENST00000314644.2	+	1	110	c.110A>G	c.(109-111)aAt>aGt	p.N37S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N37S(1)		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						CTTTGTCCTAATTGCAGACTA	0.378										HNSCC(20;0.049)																													uc010rig.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)AAT>AGT		olfactory receptor, family 4, subfamily C,							166.0	165.0	165.0					11																	55321892		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321892A>G	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.110A>G	11.37:g.55321892A>G	ENSP00000324958:p.Asn37Ser	HNSCC(20;0.049)					p.N37S	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	110	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.110A>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	6.914	0.538211	0.13188	.	.	ENSG00000181939	ENST00000314644	T	0.00000	9.92	3.21	-1.07	0.09968	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.00118	-1.2033	6	0.23891	T	0.37	.	0.5023	0.00582	0.4355:0.2188:0.1326:0.2131	.	.	.	.	S	37	ENSP00000324958:N37S	ENSP00000324958:N37S	N	+	2	0	OR4C15	55078468	0.000000	0.05858	0.013000	0.15412	0.033000	0.12548	-1.250000	0.02885	0.030000	0.15379	0.317000	0.21355	AAT		0.378	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		63	133	0	0	0	0.00361	0	63	133				
OR5D18	219438	broad.mit.edu	37	11	55588013	55588013	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55588013C>T	ENST00000333976.4	+	1	928	c.908C>T	c.(907-909)aCc>aTc	p.T303I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T303I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GATACAGTCACCGAGATACTG	0.398																																							uc010rin.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(907-909)ACC>ATC		olfactory receptor, family 5, subfamily D,							62.0	66.0	64.0					11																	55588013		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55588013C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.908C>T	11.37:g.55588013C>T	ENSP00000335025:p.Thr303Ile						p.T303I	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	908	+		all_epithelial(135;0.208)	303			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.908C>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.929882	0.34096	.	.	ENSG00000186119	ENST00000333976	T	0.35973	1.28	4.97	-3.65	0.04502	.	1.175380	0.06370	N	0.713365	T	0.17704	0.0425	N	0.12920	0.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26677	-1.0096	10	0.66056	D	0.02	3.2619	1.9266	0.03319	0.3518:0.2164:0.3277:0.1041	.	303	Q8NGL1	OR5DI_HUMAN	I	303	ENSP00000335025:T303I	ENSP00000335025:T303I	T	+	2	0	OR5D18	55344589	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-2.281000	0.01157	-0.493000	0.06678	-0.435000	0.05868	ACC		0.398	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		25	50	0	0	0	0.00333	0	25	50				
OR8J3	81168	broad.mit.edu	37	11	55904398	55904398	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55904398T>C	ENST00000301529.1	-	1	796	c.797A>G	c.(796-798)cAc>cGc	p.H266R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H266R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCCAGTGAGTGGTTGGTTTG	0.418																																							uc010riz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(796-798)CAC>CGC		olfactory receptor, family 8, subfamily J,							135.0	132.0	133.0					11																	55904398		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904398T>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.797A>G	11.37:g.55904398T>C	ENSP00000301529:p.His266Arg						p.H266R	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	797	-	Esophageal squamous(21;0.00693)		266			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.797A>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	7.980	0.751023	0.15778	.	.	ENSG00000167822	ENST00000301529	T	0.00084	8.75	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.086894	0.50627	D	0.000118	T	0.00178	0.0005	L	0.54965	1.715	0.09310	N	1	B	0.21905	0.062	B	0.34418	0.182	T	0.16778	-1.0391	10	0.56958	D	0.05	.	8.9529	0.35801	0.0:0.0:0.1868:0.8132	.	266	Q8NGG0	OR8J3_HUMAN	R	266	ENSP00000301529:H266R	ENSP00000301529:H266R	H	-	2	0	OR8J3	55660974	0.001000	0.12720	0.013000	0.15412	0.261000	0.26267	0.865000	0.27940	1.272000	0.44329	0.247000	0.18012	CAC		0.418	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		20	95	0	0	0	0.001882	0	20	95				
OR5T1	390155	broad.mit.edu	37	11	56043784	56043784	+	Missense_Mutation	SNP	C	C	A	rs369542444		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56043784C>A	ENST00000313033.2	+	1	756	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L224M(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGTCACTATCCTGATTGTCCT	0.428																																							uc001nio.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(670-672)CTG>ATG		olfactory receptor, family 5, subfamily T,							211.0	200.0	203.0					11																	56043784		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043784C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.670C>A	11.37:g.56043784C>A	ENSP00000323612:p.Leu224Met						p.L224M	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	670	+	Esophageal squamous(21;0.00448)		224			Helical; Name=5; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.670C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.116939	0.56505	.	.	ENSG00000181698	ENST00000313033	T	0.44083	0.93	3.44	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001371	T	0.43567	0.1253	L	0.56280	1.765	0.09310	N	1	P	0.51147	0.942	P	0.53102	0.718	T	0.22417	-1.0217	10	0.45353	T	0.12	.	5.3705	0.16136	0.0:0.6269:0.1677:0.2054	.	224	Q8NG75	OR5T1_HUMAN	M	224	ENSP00000323612:L224M	ENSP00000323612:L224M	L	+	1	2	OR5T1	55800360	0.000000	0.05858	0.001000	0.08648	0.775000	0.43874	-3.622000	0.00412	0.287000	0.22375	0.465000	0.42564	CTG		0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		53	207	1	0	4.25531e-23	0.00361	6.35383e-23	53	207				
OR8J1	219477	broad.mit.edu	37	11	56127836	56127836	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56127836C>G	ENST00000303039.3	+	1	146	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGGGCTGACCATGGCAGGGA	0.493																																							uc010rjh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(112-114)ACC>ACG		olfactory receptor, family 8, subfamily J,							138.0	130.0	132.0					11																	56127836		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127836C>G	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.114C>G	11.37:g.56127836C>G							p.T38T	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	114	+	Esophageal squamous(21;0.00448)		38			Helical; Name=1; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.114C>G	CCDS31529.1																																																																																				0.493	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		49	166	0	0	0	0.00361	0	49	166				
OR5M8	219484	broad.mit.edu	37	11	56258013	56258013	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56258013G>T	ENST00000327216.2	-	1	858	c.834C>A	c.(832-834)acC>acA	p.T278T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T278T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGATTACTGTGGTATAAAATA	0.343																																							uc001nix.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(832-834)ACC>ACA		olfactory receptor, family 5, subfamily M,							46.0	53.0	51.0					11																	56258013		2201	4295	6496	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258013G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.834C>A	11.37:g.56258013G>T							p.T278T	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	834	-	Esophageal squamous(21;0.00352)		278			Helical; Name=7; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.834C>A	CCDS31533.1																																																																																				0.343	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		13	79	1	0	4.3838e-07	0.001855	5.15185e-07	13	79				
OR5B21	219968	broad.mit.edu	37	11	58275014	58275014	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:58275014C>A	ENST00000360374.2	-	1	564	c.565G>T	c.(565-567)Gac>Tac	p.D189Y		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D189Y(1)|p.D189H(1)		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)				ATGCGTGTGTCAGAGCATGAG	0.463																																							uc010rki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(565-567)GAC>TAC		olfactory receptor, family 5, subfamily B,							52.0	49.0	50.0					11																	58275014		2200	4295	6495	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275014C>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.565G>T	11.37:g.58275014C>A	ENSP00000353537:p.Asp189Tyr						p.D189Y	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	565	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	189			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.565G>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	2.335	-0.352395	0.05173	.	.	ENSG00000198283	ENST00000360374	T	0.00267	8.38	4.95	-9.9	0.00461	GPCR, rhodopsin-like superfamily (1);	1.188100	0.06507	U	0.737296	T	0.00328	0.0010	M	0.90198	3.095	0.09310	N	1	B	0.16396	0.017	B	0.30029	0.11	T	0.21484	-1.0244	10	0.87932	D	0	-0.4564	12.5533	0.56240	0.081:0.6275:0.082:0.2096	.	189	A6NL26	OR5BL_HUMAN	Y	189	ENSP00000353537:D189Y	ENSP00000353537:D189Y	D	-	1	0	OR5B21	58031590	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.359000	0.00498	-3.065000	0.00255	-1.008000	0.02478	GAC		0.463	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		21	43	1	0	3.8784e-16	0.001882	5.446e-16	21	43				
GLYAT	10249	broad.mit.edu	37	11	58480262	58480262	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:58480262A>T	ENST00000344743.3	-	4	428	c.287T>A	c.(286-288)aTc>aAc	p.I96N	GLYAT_ENST00000278400.3_Missense_Mutation_p.I96N|GLYAT_ENST00000529732.1_Missense_Mutation_p.I96N	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	96					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.I96N(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTTCCAGTTGATGAGTTCTGG	0.398																																							uc001nnb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)ATC>AAC		glycine-N-acyltransferase isoform a	Glycine(DB00145)						226.0	199.0	208.0					11																	58480262		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480262A>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.287T>A	11.37:g.58480262A>T	ENSP00000340200:p.Ile96Asn					GLYAT_uc001nnc.2_Missense_Mutation_p.I96N	p.I96N	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			4	442	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	96					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.287T>A	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319050	0.41096	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.20069	2.1;2.1;2.1	5.76	4.65	0.58169	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.111469	0.56097	D	0.000021	T	0.53206	0.1782	M	0.93594	3.435	0.35403	D	0.791763	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69551	-0.5115	10	0.87932	D	0	-55.2058	8.5846	0.33651	0.9134:0.0:0.0866:0.0	.	96;96	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	N	96	ENSP00000340200:I96N;ENSP00000431688:I96N;ENSP00000278400:I96N	ENSP00000278400:I96N	I	-	2	0	GLYAT	58236838	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	4.597000	0.61062	1.125000	0.41998	0.528000	0.53228	ATC		0.398	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			23	65	0	0	0	0.00278	0	23	65				
OR4D11	219986	broad.mit.edu	37	11	59271729	59271729	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59271729T>C	ENST00000313253.1	+	1	681	c.681T>C	c.(679-681)tcT>tcC	p.S227S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CGCTGAGGTCTCAGGCAGGAG	0.527																																							uc001noa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)TCT>TCC		olfactory receptor, family 4, subfamily D,							178.0	169.0	172.0					11																	59271729		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271729T>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.681T>C	11.37:g.59271729T>C							p.S227S	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	681	+			227			Cytoplasmic (Potential).			Silent	SNP	ENST00000313253.1	37	c.681T>C	CCDS31563.1																																																																																				0.527	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		53	184	0	0	0	0.00361	0	53	184				
OR4D9	390199	broad.mit.edu	37	11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T	rs200344506		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18416	0.0		0.001	False		,,,				2504	0.0						uc010rkv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGC>TGC		olfactory receptor, family 4, subfamily D,							83.0	80.0	81.0					11																	59282749		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282749C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.364C>T	11.37:g.59282749C>T	ENSP00000328563:p.Arg122Cys						p.R122C	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	364	+			122			Cytoplasmic (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.364C>T	CCDS31564.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.036	0.375002	0.11409	.	.	ENSG00000172742	ENST00000329328	T	0.77358	-1.09	4.16	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000683	T	0.71879	0.3392	M	0.85462	2.755	0.37099	D	0.899789	P	0.36974	0.576	B	0.27715	0.082	T	0.69672	-0.5082	10	0.72032	D	0.01	-8.1774	5.8318	0.18584	0.1534:0.6702:0.0:0.1764	.	122	Q8NGE8	OR4D9_HUMAN	C	122	ENSP00000328563:R122C	ENSP00000328563:R122C	R	+	1	0	OR4D9	59039325	0.003000	0.15002	0.377000	0.26055	0.004000	0.04260	0.079000	0.14782	-0.000000	0.14550	-0.251000	0.11542	CGC		0.527	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		5	101	0	0	0	0.000602	0	5	101				
OR4D9	390199	broad.mit.edu	37	11	59283102	59283102	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59283102C>A	ENST00000329328.3	+	1	717	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T239T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATCTCCACCTGCACCTCCC	0.537																																							uc010rkv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)ACC>ACA		olfactory receptor, family 4, subfamily D,							264.0	228.0	241.0					11																	59283102		2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283102C>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.717C>A	11.37:g.59283102C>A							p.T239T	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	717	+			239			Helical; Name=6; (Potential).		Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.717C>A	CCDS31564.1																																																																																				0.537	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		108	160	1	0	2.87887e-39	0.00361	4.55603e-39	108	160				
MS4A3	932	broad.mit.edu	37	11	59828748	59828749	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59828748_59828749GG>TT	ENST00000278865.3	+	2	188_189	c.115_116GG>TT	c.(115-117)GGa>TTa	p.G39L	MS4A3_ENST00000358152.2_Missense_Mutation_p.G39L|MS4A3_ENST00000534744.1_Missense_Mutation_p.G39L|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	39						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G39L(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCCCATAGATGGATCACCAGAT	0.45																																							uc001nom.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(115-117)GGA>TTA		membrane-spanning 4-domains, subfamily A, member																																				SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828748_59828749GG>TT	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		Exception_encountered	11.37:g.59828748_59828749delinsTT	ENSP00000278865:p.Gly39Leu					MS4A3_uc001non.2_Missense_Mutation_p.G39L|MS4A3_uc001noo.2_Intron	p.G39L	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	243_244	+		all_epithelial(135;0.245)	39			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	DNP	ENST00000278865.3	37	c.115_116GG>TT	CCDS31567.1																																																																																				0.450	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			8	50	0	0	0	0.004672	0	8	50				
TMEM132A	54972	broad.mit.edu	37	11	60703723	60703723	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:60703723G>T	ENST00000453848.2	+	11	2574	c.2416G>T	c.(2416-2418)Ggt>Tgt	p.G806C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.G807C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	806	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G807C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCAACACAGGTGTGAGGGG	0.647																																							uc001nqj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2416-2418)GGT>TGT		transmembrane protein 132A isoform b							73.0	68.0	69.0					11																	60703723		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703723G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2416G>T	11.37:g.60703723G>T	ENSP00000405823:p.Gly806Cys					TMEM132A_uc001nqi.2_Missense_Mutation_p.G807C|TMEM132A_uc001nqm.2_Missense_Mutation_p.G16C	p.G806C	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			11	2609	+			806			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2416G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	7.229	0.598973	0.13939	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.15256	2.44;2.44	5.25	4.33	0.51752	.	1.055590	0.07381	N	0.887494	T	0.24275	0.0588	L	0.53249	1.67	0.09310	N	1	P;P	0.38617	0.64;0.64	B;B	0.43478	0.421;0.421	T	0.25882	-1.0119	10	0.87932	D	0	0.1039	7.7243	0.28750	0.0875:0.1667:0.7458:0.0	.	806;807	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	557;806;807	ENSP00000405823:G806C;ENSP00000005286:G807C	ENSP00000005286:G807C	G	+	1	0	TMEM132A	60460299	0.064000	0.20934	0.007000	0.13788	0.046000	0.14306	1.138000	0.31491	1.323000	0.45263	0.561000	0.74099	GGT		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		23	53	1	0	5.45024e-15	0.00333	7.47266e-15	23	53				
VWCE	220001	broad.mit.edu	37	11	61026549	61026549	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:61026549A>G	ENST00000335613.5	-	20	2852	c.2466T>C	c.(2464-2466)ggT>ggC	p.G822G	VWCE_ENST00000535710.1_Silent_p.G287G	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	822						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G822G(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGAGTGTGGACCATGAGCTC	0.597																																							uc001nra.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2464-2466)GGT>GGC		von Willebrand factor C and EGF domains							56.0	58.0	57.0					11																	61026549		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61026549A>G	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2466T>C	11.37:g.61026549A>G						VWCE_uc001nrb.2_RNA	p.G822G	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	2745	-			822					A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.2466T>C	CCDS8002.1																																																																																				0.597	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		10	35	0	0	0	0.008291	0	10	35				
AHNAK	79026	broad.mit.edu	37	11	62288621	62288621	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:62288621C>A	ENST00000378024.4	-	5	13542	c.13268G>T	c.(13267-13269)gGc>gTc	p.G4423V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4423					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)	p.G4423V(1)		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)				CAAACTGGGGCCTTTTATGTC	0.443																																							uc001ntl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13267-13269)GGC>GTC		AHNAK nucleoprotein isoform 1							106.0	115.0	112.0					11																	62288621		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288621C>A	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.13268G>T	11.37:g.62288621C>A	ENSP00000367263:p.Gly4423Val					AHNAK_uc001ntk.1_Intron	p.G4423V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13568	-		Melanoma(852;0.155)	4423					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13268G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	4.455	0.084188	0.08583	.	.	ENSG00000124942	ENST00000378024	T	0.02863	4.13	4.56	2.61	0.31194	.	0.187611	0.46442	D	0.000299	T	0.10380	0.0254	M	0.76328	2.33	0.20764	N	0.999853	D	0.89917	1.0	D	0.91635	0.999	T	0.14699	-1.0463	10	0.12103	T	0.63	.	9.645	0.39861	0.1507:0.5579:0.2914:0.0	.	4423	Q09666	AHNK_HUMAN	V	4423	ENSP00000367263:G4423V	ENSP00000367263:G4423V	G	-	2	0	AHNAK	62045197	0.000000	0.05858	0.015000	0.15790	0.052000	0.14988	0.702000	0.25631	0.425000	0.26087	-0.558000	0.04189	GGC		0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		47	186	1	0	7.88023e-25	0.00361	1.18885e-24	47	186				
PPP2R5B	5526	broad.mit.edu	37	11	64694315	64694315	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:64694315G>A	ENST00000164133.2	+	3	953	c.331G>A	c.(331-333)Gtg>Atg	p.V111M		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	111					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V111M(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAACGAGCTGGTGGAGTGTGT	0.652																																							uc001oby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(331-333)GTG>ATG		beta isoform of regulatory subunit B56, protein							120.0	107.0	111.0					11																	64694315		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694315G>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.331G>A	11.37:g.64694315G>A	ENSP00000164133:p.Val111Met					PPP2R5B_uc001obz.2_Missense_Mutation_p.V111M	p.V111M	NM_006244	NP_006235	Q15173	2A5B_HUMAN			3	916	+			111					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.331G>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823221	0.90873	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84206	0.5421	M	0.92268	3.29	0.58432	D	0.999999	D	0.63880	0.993	D	0.66847	0.947	D	0.88145	0.2847	9	0.87932	D	0	-25.1467	14.2826	0.66224	0.0:0.0:1.0:0.0	.	111	Q15173	2A5B_HUMAN	M	111;111;138;25;111	.	ENSP00000164133:V111M	V	+	1	0	PPP2R5B	64450891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.024000	0.93689	2.485000	0.83878	0.655000	0.94253	GTG		0.652	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		18	61	0	0	0	0.006122	0	18	61				
TMEM151A	256472	broad.mit.edu	37	11	66061839	66061839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:66061839C>A	ENST00000327259.4	+	2	266	c.122C>A	c.(121-123)tCg>tAg	p.S41*		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	41						integral component of membrane (GO:0016021)		p.S41*(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						TGCCGCGAGTCGCACTGGAAG	0.692																																							uc001ohl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(121-123)TCG>TAG		transmembrane protein 151A							52.0	53.0	52.0					11																	66061839		2199	4294	6493	SO:0001587	stop_gained	256472					integral to membrane		g.chr11:66061839C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.122C>A	11.37:g.66061839C>A	ENSP00000326244:p.Ser41*						p.S41*	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	234	+			41					Q8ND14	Nonsense_Mutation	SNP	ENST00000327259.4	37	c.122C>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967888	0.92855	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5301	0.84355	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000326244:S41X	S	+	2	0	TMEM151A	65818415	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.430000	0.44766	2.438000	0.82558	0.561000	0.74099	TCG		0.692	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		13	75	1	0	9.31168e-06	0.001855	1.06559e-05	13	75				
CD248	57124	broad.mit.edu	37	11	66084402	66084402	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:66084402T>A	ENST00000311330.3	-	1	113	c.97A>T	c.(97-99)Agc>Tgc	p.S33C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	33	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.S33C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCGTAGCAGCTGCTGGGGCCG	0.761																																							uc001ohm.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)	3						c.(97-99)AGC>TGC		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						4.0	6.0	5.0					11																	66084402		1532	3172	4704	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084402T>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.97A>T	11.37:g.66084402T>A	ENSP00000308117:p.Ser33Cys						p.S33C	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	114	-			33			C-type lectin.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.97A>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872271	0.33069	.	.	ENSG00000174807	ENST00000311330	T	0.57436	0.4	3.94	2.75	0.32379	C-type lectin-like (1);C-type lectin (2);	0.557436	0.18587	N	0.136824	T	0.52533	0.1740	L	0.53671	1.685	0.31466	N	0.668965	D	0.63046	0.992	P	0.52710	0.707	T	0.59085	-0.7520	10	0.72032	D	0.01	-8.2636	3.7893	0.08713	0.0:0.1166:0.2247:0.6587	.	33	Q9HCU0	CD248_HUMAN	C	33	ENSP00000308117:S33C	ENSP00000308117:S33C	S	-	1	0	CD248	65840978	0.957000	0.32711	0.899000	0.35326	0.111000	0.19643	1.964000	0.40462	0.527000	0.28560	0.459000	0.35465	AGC		0.761	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		6	11	0	0	0	0.001168	0	6	11				
ALDH3B2	222	broad.mit.edu	37	11	67432005	67432005	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:67432005C>A	ENST00000349015.3	-	8	1173	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.E245D	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	245					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.E245D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAGGCTCCGTCTCCTGCACGT	0.657																																							uc001omr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(733-735)GAG>GAT		aldehyde dehydrogenase 3B2	NADH(DB00157)						112.0	89.0	97.0					11																	67432005		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67432005C>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.735G>T	11.37:g.67432005C>A	ENSP00000255084:p.Glu245Asp					ALDH3B2_uc001oms.2_Missense_Mutation_p.E245D|ALDH3B2_uc009ysa.1_Missense_Mutation_p.E245D	p.E245D	NM_000695	NP_000686	P48448	AL3B2_HUMAN			8	1174	-			245					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.735G>T	CCDS31622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.559906|3.559906	0.65538|0.65538	.|.	.|.	ENSG00000132746|ENSG00000132746	ENST00000531248|ENST00000530069;ENST00000349015	.|T;T	.|0.75938	.|-0.98;-0.98	3.86|3.86	2.93|2.93	0.34026|0.34026	.|Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.|0.211832	.|0.38217	.|U	.|0.001764	T|T	0.75332|0.75332	0.3835|0.3835	L|L	0.33189|0.33189	0.99|0.99	0.35163|0.35163	D|D	0.770805|0.770805	.|D;D	.|0.60160	.|0.987;0.964	.|D;P	.|0.68943	.|0.961;0.882	T|T	0.74630|0.74630	-0.3601|-0.3601	5|10	.|0.13470	.|T	.|0.59	.|.	13.0898|13.0898	0.59160|0.59160	0.0:0.6936:0.3064:0.0|0.0:0.6936:0.3064:0.0	.|.	.|130;245	.|B4DSX1;P48448	.|.;AL3B2_HUMAN	Y|D	16|245	.|ENSP00000431595:E245D;ENSP00000255084:E245D	.|ENSP00000255084:E245D	D|E	-|-	1|3	0|2	ALDH3B2|ALDH3B2	67188581|67188581	0.045000|0.045000	0.20229|0.20229	0.985000|0.985000	0.45067|0.45067	0.959000|0.959000	0.62525|0.62525	0.616000|0.616000	0.24344|0.24344	0.942000|0.942000	0.37525|0.37525	0.462000|0.462000	0.41574|0.41574	GAC|GAG		0.657	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		20	58	1	0	0.00121646	0.008871	0.00130957	20	58				
FGF3	2248	broad.mit.edu	37	11	69631115	69631115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:69631115C>G	ENST00000334134.2	-	2	387	c.297G>C	c.(295-297)atG>atC	p.M99I		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	99					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.M99I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCCTCTTGTTCATGGCCAGGT	0.592																																							uc001oph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(295-297)ATG>ATC		fibroblast growth factor 3 precursor							163.0	136.0	146.0					11																	69631115		2200	4294	6494	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69631115C>G		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.297G>C	11.37:g.69631115C>G	ENSP00000334122:p.Met99Ile						p.M99I	NM_005247	NP_005238	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	788	-			99					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.297G>C	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192538	0.78902	.	.	ENSG00000186895	ENST00000334134	D	0.83673	-1.75	4.83	4.83	0.62350	.	0.040008	0.85682	D	0.000000	D	0.83487	0.5265	M	0.70787	2.145	0.80722	D	1	P	0.41498	0.752	B	0.40864	0.342	D	0.84126	0.0409	9	.	.	.	.	17.9426	0.89030	0.0:1.0:0.0:0.0	.	99	P11487	FGF3_HUMAN	I	99	ENSP00000334122:M99I	.	M	-	3	0	FGF3	69340052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.352000	0.79404	2.231000	0.72958	0.555000	0.69702	ATG		0.592	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		5	92	0	0	0	0.001168	0	5	92				
INPPL1	3636	broad.mit.edu	37	11	71948810	71948810	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:71948810G>C	ENST00000298229.2	+	26	3726	c.3522G>C	c.(3520-3522)cgG>cgC	p.R1174R	INPPL1_ENST00000541756.1_Silent_p.R932R|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Silent_p.R932R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1174					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.R1174R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCCGCATCCGGGAGAGCATCC	0.672																																							uc001osf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(3520-3522)CGG>CGC		inositol polyphosphate phosphatase-like 1							9.0	11.0	10.0					11																	71948810		2121	4207	6328	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948810G>C	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3522G>C	11.37:g.71948810G>C						INPPL1_uc001osg.2_Silent_p.R932R	p.R1174R	NM_001567	NP_001558	O15357	SHIP2_HUMAN			26	3669	+			1174					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.3522G>C	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	8.004	0.756080	0.15846	.	.	ENSG00000165458	ENST00000320683	.	.	.	4.68	-2.75	0.05914	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54906	-0.8223	4	.	.	.	.	11.5373	0.50645	0.4332:0.0:0.5668:0.0	.	.	.	.	A	36	.	.	G	+	2	0	INPPL1	71626458	0.984000	0.35163	0.879000	0.34478	0.877000	0.50540	0.259000	0.18405	-0.400000	0.07656	-0.302000	0.09304	GGG		0.672	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		3	13	0	0	0	0.004672	0	3	13				
LRRC32	2615	broad.mit.edu	37	11	76371892	76371892	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:76371892C>A	ENST00000407242.2	-	3	987	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	LRRC32_ENST00000404995.1_Missense_Mutation_p.D249Y|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.D249Y	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	249					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.D249Y(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCCCGCAGGTCAAGCCAGGTG	0.622																																							uc001oxq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GAC>TAC		leucine rich repeat containing 32 precursor							50.0	53.0	52.0					11																	76371892		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371892C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.745G>T	11.37:g.76371892C>A	ENSP00000384126:p.Asp249Tyr					LRRC32_uc001oxr.3_Missense_Mutation_p.D249Y|LRRC32_uc010rsf.1_Missense_Mutation_p.D249Y	p.D249Y	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	988	-			249			LRR 9.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.745G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667138	0.67814	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.81163	-1.46;-1.46;-1.46	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85962	0.1471	10	0.54805	T	0.06	.	17.2185	0.86951	0.0:1.0:0.0:0.0	.	249	Q14392	LRC32_HUMAN	Y	249	ENSP00000260061:D249Y;ENSP00000384126:D249Y;ENSP00000385766:D249Y	ENSP00000260061:D249Y	D	-	1	0	LRRC32	76049540	1.000000	0.71417	0.941000	0.38009	0.816000	0.46133	5.814000	0.69208	2.301000	0.77427	0.455000	0.32223	GAC		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		15	57	1	0	3.27435e-08	0.00245	3.94915e-08	15	57				
MYO7A	4647	broad.mit.edu	37	11	76867955	76867955	+	Missense_Mutation	SNP	G	G	A	rs111033283		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:76867955G>A	ENST00000409709.3	+	7	912	c.640G>A	c.(640-642)Gga>Aga	p.G214R	MYO7A_ENST00000409893.1_Missense_Mutation_p.G214R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G203R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G214R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	214	Myosin motor.		G -> R (in USH1B). {ECO:0000269|PubMed:9382091}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.G214R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCGTTTCGGAAAGTACAT	0.582																																							uc001oyb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4	GRCh37	CM971011	MYO7A	M	rs111033283	c.(640-642)GGA>AGA		myosin VIIA isoform 1							62.0	69.0	67.0					11																	76867955		2066	4195	6261	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867955G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.640G>A	11.37:g.76867955G>A	ENSP00000386331:p.Gly214Arg					MYO7A_uc010rsl.1_Missense_Mutation_p.G214R|MYO7A_uc010rsm.1_Missense_Mutation_p.G203R|MYO7A_uc001oyc.2_Missense_Mutation_p.G214R	p.G214R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			7	912	+			214		G -> R (in USH1B).	Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.640G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	g	32	5.162180	0.94727	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99826	1.1050	10	0.87932	D	0	.	18.7506	0.91812	0.0:0.0:1.0:0.0	.	214;214;214	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	214;214;214;203;213;213;213;213	ENSP00000386331:G214R;ENSP00000386689:G214R;ENSP00000392185:G214R;ENSP00000386635:G203R	ENSP00000345075:G213R	G	+	1	0	MYO7A	76545603	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.782000	0.99034	2.412000	0.81896	0.651000	0.88453	GGA		0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	56	0	0	0	0.00308	0	5	56				
CCDC89	220388	broad.mit.edu	37	11	85396854	85396854	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:85396854T>A	ENST00000316398.3	-	1	466	c.320A>T	c.(319-321)cAg>cTg	p.Q107L	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	107						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q107L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCAGCCTCCTGCATCATCTT	0.562																																							uc001pau.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CAG>CTG		coiled-coil domain containing 89							101.0	79.0	86.0					11																	85396854		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396854T>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.320A>T	11.37:g.85396854T>A	ENSP00000320649:p.Gln107Leu						p.Q107L	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	467	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	107			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.320A>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	T	7.551	0.662736	0.14645	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.44	0.557	0.17260	.	1.830870	0.03172	N	0.170873	T	0.16685	0.0401	N	0.04355	-0.22	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.13980	-1.0489	8	.	.	.	-0.8351	3.526	0.07760	0.1323:0.0736:0.209:0.5851	.	107	Q8N998	CCD89_HUMAN	L	107	.	.	Q	-	2	0	CCDC89	85074502	0.008000	0.16893	0.158000	0.22627	0.673000	0.39480	0.994000	0.29693	0.056000	0.16144	0.533000	0.62120	CAG		0.562	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		13	89	0	0	0	0.001855	0	13	89				
CCDC83	220047	broad.mit.edu	37	11	85627137	85627137	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:85627137G>A	ENST00000342404.3	+	10	1157	c.941G>A	c.(940-942)aGc>aAc	p.S314N	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.S214N|CCDC83_ENST00000280245.4_Missense_Mutation_p.S345N			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	314								p.S345N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCAGATGAGAGCACTATCTTA	0.373																																							uc001pbh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(940-942)AGC>AAC		coiled-coil domain containing 83																																				SO:0001583	missense	220047							g.chr11:85627137G>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.941G>A	11.37:g.85627137G>A	ENSP00000344512:p.Ser314Asn					CCDC83_uc001pbg.1_Missense_Mutation_p.S345N|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.S214N	p.S314N	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			10	1453	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	314					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.941G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.332|8.332	0.826621|0.826621	0.16749|0.16749	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000526729|ENST00000280245;ENST00000376067;ENST00000342404	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	4.57|4.57	0.354|0.354	0.16063|0.16063	.|.	.|0.597978	.|0.17921	.|N	.|0.157505	T|T	0.44030|0.44030	0.1274|0.1274	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.51537	.|0.763;0.946;0.946	.|P;P;P	.|0.49853	.|0.447;0.624;0.624	T|T	0.30504|0.30504	-0.9976|-0.9976	5|9	.|.	.|.	.|.	-4.1077|-4.1077	2.6644|2.6644	0.05037|0.05037	0.094:0.1699:0.4243:0.3118|0.094:0.1699:0.4243:0.3118	.|.	.|214;314;345	.|Q8IWF9-3;Q8IWF9;Q8IWF9-2	.|.;CCD83_HUMAN;.	T|N	219|345;214;314	.|ENSP00000280245:S345N;ENSP00000365235:S214N;ENSP00000344512:S314N	.|.	A|S	+|+	1|2	0|0	CCDC83|CCDC83	85304785|85304785	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.003000|0.003000	0.03518|0.03518	0.454000|0.454000	0.21827|0.21827	0.145000|0.145000	0.18977|0.18977	-0.230000|-0.230000	0.12252|0.12252	GCA|AGC		0.373	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		28	159	0	0	0	0.00632	0	28	159				
TRIM49C	642612	broad.mit.edu	37	11	89774486	89774486	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:89774486G>T	ENST00000448984.1	+	8	1456	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	376	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G376V(2)		endometrium(3)|kidney(1)|lung(4)	8						GGAAAGGAGGGACTCTTTCTT	0.443																																							uc010rua.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(1126-1128)GGA>GTA		ring finger protein 18																																				SO:0001583	missense	0							g.chr11:89774486G>T	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1127G>T	11.37:g.89774486G>T	ENSP00000388299:p.Gly376Val						p.G376V	NM_020358	NP_065091					7	1250	+								A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.1127G>T	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088285	0.20390	.	.	ENSG00000204449	ENST00000448984	T	0.71698	-0.59	0.783	-0.366	0.12545	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.76891	0.4051	M	0.66939	2.045	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.62914	-0.6753	8	.	.	.	.	3.7729	0.08649	0.0:0.0:0.5751:0.4249	.	376	P0CI26	T49L2_HUMAN	V	376	ENSP00000388299:G376V	.	G	+	2	0	TRIM49L2	89414134	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.235000	0.17948	-0.117000	0.11872	0.298000	0.19748	GGA		0.443	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		24	87	1	0	1.64293e-13	0.00333	2.20406e-13	24	87				
SLC35F2	54733	broad.mit.edu	37	11	107676120	107676120	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:107676120C>A	ENST00000525815.1	-	5	1116	c.696G>T	c.(694-696)gtG>gtT	p.V232V	SLC35F2_ENST00000429869.1_Silent_p.V232V|SLC35F2_ENST00000375682.4_Silent_p.V185V|SLC35F2_ENST00000265836.7_Silent_p.V84V|SLC35F2_ENST00000525071.1_Silent_p.V232V	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	232					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.V232V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAAACAGGCCCACCATTCCTA	0.363																																							uc001pjq.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(694-696)GTG>GTT		solute carrier family 35, member F2							84.0	78.0	80.0					11																	107676120		1861	4104	5965	SO:0001819	synonymous_variant	54733				transport	integral to membrane		g.chr11:107676120C>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.696G>T	11.37:g.107676120C>A						SLC35F2_uc010rvu.1_Silent_p.V84V|SLC35F2_uc001pjs.2_3'UTR	p.V232V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	5	1117	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	232			Helical; (Potential).		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Silent	SNP	ENST00000525815.1	37	c.696G>T	CCDS41709.1																																																																																				0.363	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		10	28	1	0	0.00621372	0.006214	0.00660776	10	28				
SC5D	6309	broad.mit.edu	37	11	121174109	121174109	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:121174109G>C	ENST00000392789.2	+	2	262	c.25G>C	c.(25-27)Gat>Cat	p.D9H	SC5D_ENST00000534230.1_Missense_Mutation_p.D9H|SC5D_ENST00000264027.4_Missense_Mutation_p.D9H	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	9					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.D9H(1)									CCGTGTTGCAGATTACTATTT	0.383																																							uc001pxu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)GAT>CAT		sterol-C5-desaturase							155.0	140.0	145.0					11																	121174109		2203	4299	6502	SO:0001583	missense	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121174109G>C		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.25G>C	11.37:g.121174109G>C	ENSP00000376539:p.Asp9His					SC5DL_uc001pxs.1_Missense_Mutation_p.D9H|SC5DL_uc001pxt.2_Missense_Mutation_p.D9H|SC5DL_uc001pxv.2_Missense_Mutation_p.D9H	p.D9H	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	173	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	9					O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.25G>C	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995858	0.74703	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.88046	-1.88;-1.91;-2.33;-1.88	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;0.999;1.0	D	0.95595	0.8658	10	0.72032	D	0.01	-19.0088	19.2926	0.94108	0.0:0.0:1.0:0.0	.	9;9;9	O75845;E9PQ91;E9PPW5	SC5D_HUMAN;.;.	H	9	ENSP00000264027:D9H;ENSP00000436290:D9H;ENSP00000432550:D9H;ENSP00000376539:D9H	ENSP00000264027:D9H	D	+	1	0	SC5DL	120679319	1.000000	0.71417	0.394000	0.26270	0.355000	0.29361	9.612000	0.98347	2.861000	0.98227	0.650000	0.86243	GAT		0.383	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		24	78	0	0	0	0.00333	0	24	78				
UBASH3B	84959	broad.mit.edu	37	11	122647789	122647789	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:122647789C>T	ENST00000284273.5	+	3	648	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	91					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.V91V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGGAGTACGTCCTCTACCTCC	0.547																																							uc001pyi.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(271-273)GTC>GTT		ubiquitin associated and SH3 domain containing,							87.0	75.0	79.0					11																	122647789		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122647789C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.273C>T	11.37:g.122647789C>T							p.V91V	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	3	633	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	91					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.273C>T	CCDS31694.1																																																																																				0.547	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		8	54	0	0	0	0.00308	0	8	54				
OR10G9	219870	broad.mit.edu	37	11	123894352	123894352	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:123894352C>T	ENST00000375024.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L211L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GCTGCTTTCTCCTGATAGTGC	0.567																																							uc010sad.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(631-633)CTC>CTT		olfactory receptor, family 10, subfamily G,							243.0	208.0	220.0					11																	123894352		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894352C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.633C>T	11.37:g.123894352C>T							p.L211L	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	633	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	211			Helical; Name=5; (Potential).			Silent	SNP	ENST00000375024.1	37	c.633C>T	CCDS31703.1																																																																																				0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		27	121	0	0	0	0.004656	0	27	121				
ROBO3	64221	broad.mit.edu	37	11	124745497	124745497	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:124745497G>A	ENST00000397801.1	+	15	2529	c.2337G>A	c.(2335-2337)ttG>ttA	p.L779L	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Silent_p.L757L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	779	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.L779L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGGTGGCCTTGGGGGGTGATG	0.607																																							uc001qbc.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2335-2337)TTG>TTA		roundabout, axon guidance receptor, homolog 3							26.0	27.0	27.0					11																	124745497		1946	4121	6067	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745497G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2337G>A	11.37:g.124745497G>A						ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank|ROBO3_uc001qbf.1_5'Flank	p.L779L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2529	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	779			Fibronectin type-III 3.|Extracellular (Potential).			Silent	SNP	ENST00000397801.1	37	c.2337G>A	CCDS44755.1																																																																																				0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		16	34	0	0	0	0.004007	0	16	34				
SNX19	399979	broad.mit.edu	37	11	130785484	130785484	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:130785484C>G	ENST00000265909.4	-	1	920	c.351G>C	c.(349-351)tgG>tgC	p.W117C	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.W117C|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	117	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.W117C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGGAACGGTACCAAGATAACA	0.542																																							uc001qgk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(349-351)TGG>TGC		sorting nexin 19							76.0	57.0	64.0					11																	130785484		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785484C>G	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.351G>C	11.37:g.130785484C>G	ENSP00000265909:p.Trp117Cys					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.W117C|SNX19_uc009zcx.1_Intron	p.W117C	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	899	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	117			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.351G>C	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861131	0.51482	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.72505	0.44;-0.66	4.67	4.67	0.58626	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	D	0.85766	0.1352	10	0.87932	D	0	-8.5149	17.751	0.88434	0.0:1.0:0.0:0.0	.	117;117	E9PKB9;Q92543	.;SNX19_HUMAN	C	117	ENSP00000265909:W117C;ENSP00000435390:W117C	ENSP00000265909:W117C	W	-	3	0	SNX19	130290694	1.000000	0.71417	0.999000	0.59377	0.305000	0.27757	7.155000	0.77445	2.407000	0.81776	0.555000	0.69702	TGG		0.542	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		25	38	0	0	0	0.00333	0	25	38				
B3GAT1	27087	broad.mit.edu	37	11	134251899	134251899	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:134251899C>T	ENST00000524765.1	-	5	5482	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R326Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R313Q|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R313Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	313					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R313Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTCTCTGTCCGTGTGTGCCA	0.597																																							uc001qhq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)CGG>CAG		beta-1,3-glucuronyltransferase 1							159.0	119.0	133.0					11																	134251899		2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134251899C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.938G>A	11.37:g.134251899C>T	ENSP00000433847:p.Arg313Gln					B3GAT1_uc001qhr.2_Missense_Mutation_p.R313Q|B3GAT1_uc010scv.1_Missense_Mutation_p.R326Q	p.R313Q	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	6	1199	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	313			Lumenal (Potential).		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.938G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	37	6.629369	0.97718	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	L	0.43598	1.365	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.62649	0.664;0.905	T	0.70461	-0.4865	10	0.30854	T	0.27	-34.6553	19.7229	0.96150	0.0:1.0:0.0:0.0	.	326;313	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	Q	313;313;313;326	ENSP00000376359:R313Q;ENSP00000307875:R313Q;ENSP00000433847:R313Q;ENSP00000445983:R326Q	ENSP00000307875:R313Q	R	-	2	0	B3GAT1	133757109	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.487000	0.81328	2.768000	0.95171	0.561000	0.74099	CGG		0.597	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		7	51	0	0	0	0.00308	0	7	51				
CACNA2D4	93589	broad.mit.edu	37	12	2022273	2022273	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:2022273G>T	ENST00000382722.5	-	3	704	c.342C>A	c.(340-342)atC>atA	p.I114I	CACNA2D4_ENST00000586184.1_Silent_p.I114I|CACNA2D4_ENST00000588077.1_Silent_p.I50I|CACNA2D4_ENST00000585732.1_Silent_p.I114I|CACNA2D4_ENST00000585708.1_Silent_p.I50I|CACNA2D4_ENST00000587995.1_Silent_p.I114I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	114					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I114I(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCTCCTCGATCTTCAGAC	0.537																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(340-342)ATC>ATA		voltage-gated calcium channel alpha(2)delta-4							137.0	153.0	147.0					12																	2022273		2110	4237	6347	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022273G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.342C>A	12.37:g.2022273G>T						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.I114I	p.I114I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	573	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	114			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.342C>A	CCDS44785.1																																																																																				0.537	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			15	31	1	0	3.41278e-10	0.00499	4.3255e-10	15	31				
NCAPD2	9918	broad.mit.edu	37	12	6640523	6640523	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:6640523C>T	ENST00000315579.5	+	32	4950	c.4151C>T	c.(4150-4152)aCa>aTa	p.T1384I	GAPDH_ENST00000229239.5_5'Flank|RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.T1339I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1384					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.T1384I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GAAGACGAGACACCCAAGAAA	0.443																																							uc001qoo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(4150-4152)ACA>ATA		non-SMC condensin I complex, subunit D2							102.0	94.0	96.0					12																	6640523		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6640523C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.4151C>T	12.37:g.6640523C>T	ENSP00000325017:p.Thr1384Ile					NCAPD2_uc010sfd.1_Missense_Mutation_p.T1339I	p.T1384I	NM_014865	NP_055680	Q15021	CND1_HUMAN			32	4197	+			1384					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.4151C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277805	0.80692	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.21191	2.31;2.02	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.36672	1.1	0.51012	D	0.999909	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.963	T	0.02339	-1.1174	10	0.30854	T	0.27	-16.2115	16.3467	0.83138	0.0:1.0:0.0:0.0	.	1339;1384	F5GZJ1;Q15021	.;CND1_HUMAN	I	1384;1339	ENSP00000325017:T1384I;ENSP00000444417:T1339I	ENSP00000325017:T1384I	T	+	2	0	NCAPD2	6510784	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	5.202000	0.65169	2.499000	0.84300	0.561000	0.74099	ACA		0.443	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		9	52	0	0	0	0.008291	0	9	52				
CLEC1B	51266	broad.mit.edu	37	12	10149814	10149814	+	Missense_Mutation	SNP	T	T	A	rs200687802		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:10149814T>A	ENST00000298527.6	-	3	407	c.228A>T	c.(226-228)ttA>ttT	p.L76F	CLEC1B_ENST00000428126.2_Missense_Mutation_p.L43F|CLEC1B_ENST00000348658.4_Missense_Mutation_p.L43F	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	76					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L76F(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						AGCGCTTTGCTAATTGTTGCA	0.363																																							uc001qwu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(226-228)TTA>TTT		C-type lectin domain family 1, member B isoform							108.0	99.0	102.0					12																	10149814		1838	4096	5934	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149814T>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.228A>T	12.37:g.10149814T>A	ENSP00000298527:p.Leu76Phe					CLEC1B_uc009zhd.2_Missense_Mutation_p.L43F	p.L76F	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			3	428	-			76			Extracellular (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.228A>T	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490517	0.26686	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.01613	4.73;4.76;4.73	4.04	-2.63	0.06133	C-type lectin-like (1);	0.325851	0.21996	N	0.066068	T	0.05823	0.0152	M	0.69823	2.125	0.09310	N	1	D;D	0.63880	0.993;0.989	D;P	0.65140	0.932;0.856	T	0.02868	-1.1100	9	.	.	.	.	9.3543	0.38157	0.0:0.5574:0.0:0.4426	.	43;76	Q9P126-2;Q9P126	.;CLC1B_HUMAN	F	43;76;43	ENSP00000406338:L43F;ENSP00000298527:L76F;ENSP00000327169:L43F	.	L	-	3	2	CLEC1B	10041081	0.350000	0.24878	0.007000	0.13788	0.128000	0.20619	-0.093000	0.11111	-0.409000	0.07553	0.402000	0.26972	TTA		0.363	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		6	38	0	0	0	0.001984	0	6	38				
PTPRO	5800	broad.mit.edu	37	12	15652394	15652394	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:15652394C>A	ENST00000281171.4	+	4	857	c.527C>A	c.(526-528)aCa>aAa	p.T176K	PTPRO_ENST00000543886.1_Missense_Mutation_p.T176K|PTPRO_ENST00000348962.2_Missense_Mutation_p.T176K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	176	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.T176K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGGGAAAAACAGTATTTAAT	0.338																																							uc001rcv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(526-528)ACA>AAA		receptor-type protein tyrosine phosphatase O							84.0	86.0	85.0					12																	15652394		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15652394C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.527C>A	12.37:g.15652394C>A	ENSP00000281171:p.Thr176Lys					PTPRO_uc001rcw.1_Missense_Mutation_p.T176K|PTPRO_uc001rcu.1_Missense_Mutation_p.T176K	p.T176K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			4	701	+		Hepatocellular(102;0.244)	176			Fibronectin type-III 2.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.527C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529114	0.85706	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.06768	3.3;3.26	4.99	4.99	0.66335	.	0.000000	0.49916	D	0.000121	T	0.16727	0.0402	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.69307	0.913;0.82;0.963	T	0.06917	-1.0800	10	0.44086	T	0.13	.	18.4628	0.90745	0.0:1.0:0.0:0.0	.	176;176;176	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	K	176	ENSP00000281171:T176K;ENSP00000343434:T176K	ENSP00000281171:T176K	T	+	2	0	PTPRO	15543661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.315000	0.78998	2.584000	0.87258	0.650000	0.86243	ACA		0.338	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			28	72	1	0	1.2476e-16	0.00632	1.75752e-16	28	72				
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:21958120C>G	ENST00000261201.4	-	38	4637	c.4638G>C	c.(4636-4638)atG>atC	p.M1546I	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.M1546I(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438																																							uc001rfi.1		NA																	1	Substitution - Missense(1)	p.R1546H(1)	lung(1)	ovary(4)|skin(2)	6						c.(4636-4638)ATG>ATC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						174.0	145.0	155.0					12																	21958120		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958120C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4638G>C	12.37:g.21958120C>G	ENSP00000261201:p.Met1546Ile					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron	p.M1546I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4658	-			1546			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4638G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349329	0.61183	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	D;D;D	0.91945	-2.79;-2.94;-2.92	5.96	5.08	0.68730	ABC transporter-like (1);	.	.	.	.	D	0.86389	0.5921	N	0.19112	0.55	0.33172	D	0.548349	B	0.13594	0.008	B	0.10450	0.005	D	0.86474	0.1787	9	0.87932	D	0	.	13.4726	0.61290	0.0:0.9282:0.0:0.0718	.	1546	O60706	ABCC9_HUMAN	I	1173;1546;1510	ENSP00000440521:M1173I;ENSP00000261201:M1546I;ENSP00000261202:M1510I	ENSP00000261201:M1546I	M	-	3	0	ABCC9	21849387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.515000	0.67049	1.542000	0.49330	-0.136000	0.14681	ATG		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	76	0	0	0	0.001168	0	5	76				
C12orf71	728858	broad.mit.edu	37	12	27235055	27235055	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:27235055T>C	ENST00000429849.2	-	1	392	c.362A>G	c.(361-363)aAa>aGa	p.K121R		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	121								p.K121R(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TGTTCTCTCTTTTGGTAACTT	0.408																																							uc001rhq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)AAA>AGA		hypothetical protein LOC728858							79.0	74.0	76.0					12																	27235055		1874	4124	5998	SO:0001583	missense	728858							g.chr12:27235055T>C		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.362A>G	12.37:g.27235055T>C	ENSP00000413728:p.Lys121Arg						p.K121R	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	401	-			121						Missense_Mutation	SNP	ENST00000429849.2	37	c.362A>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	9.260	1.042984	0.19748	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.45276	0.9	3.22	0.596	0.17496	.	0.793075	0.10257	U	0.696451	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21109	-1.0255	10	0.48119	T	0.1	0.0061	3.4256	0.07409	0.0:0.1339:0.2346:0.6316	.	121	A8MTZ7	CL071_HUMAN	R	121	ENSP00000413728:K121R	ENSP00000381796:K121R	K	-	2	0	C12orf71	27126322	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.213000	0.17521	0.010000	0.14839	-0.558000	0.04189	AAA		0.408	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		6	24	0	0	0	0.001984	0	6	24				
KIAA1551	55196	broad.mit.edu	37	12	32134413	32134413	+	Missense_Mutation	SNP	G	G	T	rs138191568	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:32134413G>T	ENST00000312561.4	+	4	938	c.524G>T	c.(523-525)cGa>cTa	p.R175L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	175								p.R175L(1)									AATTCTACACGACTTCCTGTA	0.418																																							uc001rks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(523-525)CGA>CTA		hypothetical protein LOC55196							97.0	92.0	93.0					12																	32134413		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32134413G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.524G>T	12.37:g.32134413G>T	ENSP00000310338:p.Arg175Leu						p.R175L	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	938	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		175					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.524G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506350	0.64410	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08102	3.13;3.13	5.57	1.13	0.20643	.	0.795245	0.11408	N	0.567059	T	0.13415	0.0325	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.31251	-0.9950	9	.	.	.	.	9.5474	0.39288	0.3472:0.0:0.6528:0.0	.	175	Q9HCM1	CL035_HUMAN	L	175	ENSP00000310338:R175L;ENSP00000370442:R175L	.	R	+	2	0	C12orf35	32025680	0.638000	0.27225	0.000000	0.03702	0.008000	0.06430	1.577000	0.36515	0.293000	0.22520	0.650000	0.86243	CGA		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		13	83	1	0	1.05317e-09	0.00245	1.32329e-09	13	83				
KIAA1551	55196	broad.mit.edu	37	12	32138614	32138614	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:32138614G>C	ENST00000312561.4	+	4	5139	c.4725G>C	c.(4723-4725)aaG>aaC	p.K1575N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1575								p.K1575N(1)									CCCAAGTAAAGGATCAAAAGA	0.358																																							uc001rks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4723-4725)AAG>AAC		hypothetical protein LOC55196							80.0	86.0	84.0					12																	32138614		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32138614G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4725G>C	12.37:g.32138614G>C	ENSP00000310338:p.Lys1575Asn					C12orf35_uc001rkt.2_5'Flank	p.K1575N	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	5139	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1575					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4725G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467717	0.26335	.	.	ENSG00000174718	ENST00000312561	T	0.20738	2.05	5.63	-0.647	0.11468	.	0.170528	0.40728	N	0.001030	T	0.21761	0.0524	M	0.67953	2.075	0.09310	N	1	P	0.52061	0.95	P	0.44673	0.457	T	0.14839	-1.0458	9	.	.	.	.	8.109	0.30903	0.3105:0.103:0.5865:0.0	.	1575	Q9HCM1	CL035_HUMAN	N	1575	ENSP00000310338:K1575N	.	K	+	3	2	C12orf35	32029881	1.000000	0.71417	0.003000	0.11579	0.010000	0.07245	0.501000	0.22578	-0.432000	0.07297	-2.049000	0.00408	AAG		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		16	97	0	0	0	0.003163	0	16	97				
SCAF11	9169	broad.mit.edu	37	12	46355641	46355641	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:46355641C>T	ENST00000369367.3	-	3	295		c.e3-1		SCAF11_ENST00000395454.2_Splice_Site|SCAF11_ENST00000395453.2_Splice_Site|SCAF11_ENST00000419565.2_Splice_Site	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTTCTTCACCTGTTAAAGTA	0.383																																							uc001rox.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		splicing factor, arginine/serine-rich 2,							69.0	68.0	68.0					12																	46355641		1844	4090	5934	SO:0001630	splice_region_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46355641C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.62-1G>A	12.37:g.46355641C>T						SFRS2IP_uc001roy.1_Splice_Site_p.G85_splice|SFRS2IP_uc009zki.1_Splice_Site|SFRS2IP_uc001roz.2_Splice_Site_p.G21_splice	p.G21_splice	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	3	349	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)						A6NEU9|A6NLW5|Q8IW59	Splice_Site	SNP	ENST00000369367.3	37	c.62_splice	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682320	0.47991	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1413	0.93446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAF11	44641908	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.991000	0.63883	2.605000	0.88082	0.585000	0.79938	.		0.383	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	Intron	26	33	0	0	0	0.00632	0	26	33				
OR8S1	341568	broad.mit.edu	37	12	48921694	48921694	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:48921694G>A	ENST00000310194.1	+	2	888		c.e2-1		OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCTGTTACAAGGGGGAAAGAA	0.468																																							uc010slu.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e2-1		olfactory receptor, family 8, subfamily S,							26.0	31.0	29.0					12																	48921694		2203	4300	6503	SO:0001630	splice_region_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921694G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.889-1G>A	12.37:g.48921694G>A							p.G297_splice	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			2	889	+									Splice_Site	SNP	ENST00000310194.1	37	c.889_splice	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648003	0.03506	.	.	ENSG00000197376	ENST00000310194	.	.	.	0.158	-0.317	0.12736	.	.	.	.	.	.	.	.	.	.	.	0.24654	N	0.993506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	OR8S1	47207961	0.702000	0.27816	0.201000	0.23476	0.159000	0.22180	0.228000	0.17814	-1.088000	0.03077	-1.088000	0.02184	.		0.468	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		Intron	29	26	0	0	0	0.009535	0	29	26				
KRT73	319101	broad.mit.edu	37	12	53004427	53004427	+	Missense_Mutation	SNP	G	G	C	rs555553903		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:53004427G>C	ENST00000305748.3	-	7	1337	c.1303C>G	c.(1303-1305)Cgc>Ggc	p.R435G	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	435	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R435G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCAGCTTGCGGTAGGTGGCG	0.602																																							uc001sas.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1303-1305)CGC>GGC		keratin 73							91.0	78.0	82.0					12																	53004427		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53004427G>C	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1303C>G	12.37:g.53004427G>C	ENSP00000307014:p.Arg435Gly						p.R435G	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1338	-			435			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1303C>G	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723789	0.68959	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.94758	-3.51;-3.51	5.47	2.34	0.29019	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.47093	D	0.000256	D	0.98018	0.9347	H	0.97291	3.975	0.35684	D	0.814285	D	0.65815	0.995	D	0.66716	0.946	D	0.99968	1.1905	10	0.87932	D	0	.	14.4561	0.67418	0.0:0.0:0.4254:0.5746	.	435	Q86Y46	K2C73_HUMAN	G	435;180	ENSP00000307014:R435G;ENSP00000449081:R180G	ENSP00000307014:R435G	R	-	1	0	KRT73	51290694	0.980000	0.34600	1.000000	0.80357	0.930000	0.56654	0.713000	0.25794	0.719000	0.32188	-0.397000	0.06425	CGC		0.602	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		9	46	0	0	0	0.000978	0	9	46				
ITGA5	3678	broad.mit.edu	37	12	54802718	54802718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:54802718G>A	ENST00000293379.4	-	5	865	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	ITGA5_ENST00000547744.1_5'Flank|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	202					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.Q202*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CAGTAACCCTGTCCTGCTGCC	0.577																																							uc001sga.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(604-606)CAG>TAG		integrin alpha 5 precursor							88.0	82.0	84.0					12																	54802718		2203	4300	6503	SO:0001587	stop_gained	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54802718G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.604C>T	12.37:g.54802718G>A	ENSP00000293379:p.Gln202*					ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.Q202*	NM_002205	NP_002196	P08648	ITA5_HUMAN			5	672	-			202			Extracellular (Potential).|FG-GAP 3.		Q96HA5	Nonsense_Mutation	SNP	ENST00000293379.4	37	c.604C>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	39	7.290442	0.98189	.	.	ENSG00000161638	ENST00000293379	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.4038	0.74861	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000293379:Q202X	Q	-	1	0	ITGA5	53088985	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.079000	0.94032	2.581000	0.87130	0.313000	0.20887	CAG		0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			30	35	0	0	0	0.008361	0	30	35				
PAN2	9924	broad.mit.edu	37	12	56720556	56720556	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:56720556G>A	ENST00000425394.2	-	7	1483	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	PAN2_ENST00000257931.5_Silent_p.S369S|PAN2_ENST00000440411.3_Silent_p.S369S|PAN2_ENST00000548043.1_Silent_p.S369S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S369S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGTCTCACGGGAGTAGGGGT	0.587																																							uc001skx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1105-1107)TCC>TCT		PAN2 polyA specific ribonuclease subunit homolog							109.0	100.0	103.0					12																	56720556		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720556G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1107C>T	12.37:g.56720556G>A						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.S369S|PAN2_uc001sky.2_Silent_p.S369S	p.S369S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1480	-			369						Silent	SNP	ENST00000425394.2	37	c.1107C>T	CCDS44922.1																																																																																				0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		36	53	0	0	0	0.004289	0	36	53				
PTPRB	5787	broad.mit.edu	37	12	71016262	71016262	+	Nonsense_Mutation	SNP	C	C	A	rs200516068	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:71016262C>A	ENST00000550358.1	-	3	641	c.616G>T	c.(616-618)Gag>Tag	p.E206*	PTPRB_ENST00000334414.6_Nonsense_Mutation_p.E206*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E205*|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E206*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTGCCTCTCGCTGCTGTTT	0.468																																							uc001swc.3		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(1)	3						c.(616-618)GAG>TAG		protein tyrosine phosphatase, receptor type, B							123.0	136.0	132.0					12																	71016262		2035	4190	6225	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016262C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.616G>T	12.37:g.71016262C>A	ENSP00000448058:p.Glu206*					PTPRB_uc001swa.3_Nonsense_Mutation_p.E206*|PTPRB_uc001swd.3_Nonsense_Mutation_p.E205*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.E85*|PTPRB_uc001swe.2_Nonsense_Mutation_p.E206*	p.E206*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	660	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000550358.1	37	c.616G>T		.	.	.	.	.	.	.	.	.	.	C	18.34	3.602615	0.66445	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	.	.	.	5.61	-5.08	0.02929	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	9.2136	0.37333	0.0:0.4384:0.4025:0.1592	.	.	.	.	X	206;206;206;205;85	.	ENSP00000334928:E206X	E	-	1	0	PTPRB	69302529	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.174000	0.09839	-0.801000	0.04427	-0.140000	0.14226	GAG		0.468	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			23	31	1	0	7.87624e-14	0.00278	1.06482e-13	23	31				
LGR5	8549	broad.mit.edu	37	12	71953410	71953410	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:71953410G>T	ENST00000266674.5	+	7	1072	c.761G>T	c.(760-762)aGg>aTg	p.R254M	LGR5_ENST00000540815.2_Missense_Mutation_p.R254M|LGR5_ENST00000536515.1_Missense_Mutation_p.R182M			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	254					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R254M(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACTGCAATTAGGACACTCTCC	0.269																																							uc001swl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(760-762)AGG>ATG		leucine-rich repeat-containing G protein-coupled							55.0	59.0	58.0					12																	71953410		2199	4286	6485	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71953410G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.761G>T	12.37:g.71953410G>T	ENSP00000266674:p.Arg254Met					LGR5_uc001swm.2_Missense_Mutation_p.R254M|LGR5_uc001swn.1_RNA	p.R254M	NM_003667	NP_003658	O75473	LGR5_HUMAN			7	809	+			254			Extracellular (Potential).|LRR 8.		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.761G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008169	0.54361	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;T;T	0.91180	-2.8;1.83;2.35	5.72	2.75	0.32379	.	0.246954	0.35970	N	0.002875	D	0.91513	0.7320	L	0.52266	1.64	0.31132	N	0.707635	D;D	0.54772	0.96;0.968	P;D	0.64237	0.873;0.923	D	0.88227	0.2901	10	0.48119	T	0.1	.	7.9537	0.30029	0.3414:0.0:0.6586:0.0	.	254;254	O75473-2;O75473	.;LGR5_HUMAN	M	254;254;182;254	ENSP00000266674:R254M;ENSP00000443033:R182M;ENSP00000441035:R254M	ENSP00000266674:R254M	R	+	2	0	LGR5	70239677	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.734000	0.26101	0.262000	0.21774	0.655000	0.94253	AGG		0.269	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		14	30	1	0	1.15088e-07	0.004007	1.36725e-07	14	30				
TMEM19	55266	broad.mit.edu	37	12	72090237	72090237	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:72090237T>C	ENST00000266673.5	+	3	860	c.266T>C	c.(265-267)cTa>cCa	p.L89P	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.L89P	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	89						integral component of membrane (GO:0016021)		p.L89P(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GGATTTATCCTAACCATTGCA	0.333																																							uc001sws.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CTA>CCA		transmembrane protein 19							141.0	140.0	141.0					12																	72090237		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72090237T>C	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.266T>C	12.37:g.72090237T>C	ENSP00000266673:p.Leu89Pro					TMEM19_uc001swr.1_Missense_Mutation_p.L75P|TMEM19_uc009zru.1_RNA	p.L89P	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	3	849	+		Breast(359;0.0889)	89			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.266T>C	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679147	0.88542	.	.	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.974	D	0.85590	0.1245	9	0.56958	D	0.05	-9.4377	16.4075	0.83691	0.0:0.0:0.0:1.0	.	89;89	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	P	89	.	ENSP00000266673:L89P	L	+	2	0	TMEM19	70376504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.990000	0.76225	2.275000	0.75901	0.528000	0.53228	CTA		0.333	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		32	62	0	0	0	0.003271	0	32	62				
NTN4	59277	broad.mit.edu	37	12	96131706	96131706	+	Missense_Mutation	SNP	C	C	G	rs140109505		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:96131706C>G	ENST00000343702.4	-	3	1250	c.802G>C	c.(802-804)Gct>Cct	p.A268P	NTN4_ENST00000553059.1_Missense_Mutation_p.A268P|NTN4_ENST00000344911.4_Missense_Mutation_p.A231P|NTN4_ENST00000538383.1_Missense_Mutation_p.A231P|NTN4_ENST00000552603.1_5'UTR	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	268	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.A268P(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CATTGATCAGCGTGGCCATTG	0.458																																							uc001tei.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(802-804)GCT>CCT		netrin 4 precursor							132.0	108.0	116.0					12																	96131706		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96131706C>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.802G>C	12.37:g.96131706C>G	ENSP00000340998:p.Ala268Pro					NTN4_uc009ztf.2_Missense_Mutation_p.A268P|NTN4_uc009ztg.2_Missense_Mutation_p.A231P	p.A268P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			3	1251	-			268			Laminin EGF-like 1.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.802G>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951565	0.92660	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.4	5.4	0.78164	EGF-like, laminin (3);	0.053989	0.64402	D	0.000001	D	0.85639	0.5743	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.89589	0.3826	10	0.87932	D	0	.	19.1677	0.93563	0.0:1.0:0.0:0.0	.	268;268	Q9HB63-2;Q9HB63	.;NET4_HUMAN	P	268;231;231;268	ENSP00000340998:A268P;ENSP00000339436:A231P;ENSP00000444432:A231P;ENSP00000447292:A268P	ENSP00000340998:A268P	A	-	1	0	NTN4	94655837	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	7.298000	0.78815	2.513000	0.84729	0.555000	0.69702	GCT		0.458	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		21	32	0	0	0	0.001882	0	21	32				
SLC25A3	5250	broad.mit.edu	37	12	98992384	98992384	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:98992384A>T	ENST00000228318.3	+	5	667	c.547A>T	c.(547-549)Atg>Ttg	p.M183L	SLC25A3_ENST00000548847.1_Missense_Mutation_p.M182L|SLC25A3_ENST00000549338.1_Missense_Mutation_p.M182L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M182L|SLC25A3_ENST00000188376.5_Missense_Mutation_p.M182L|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M183L|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M182L|SNORA53_ENST00000391141.1_RNA	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	183					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.M183L(2)|p.M182L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CCTGGCTCCTATGGAAGCTGC	0.458																																							uc001tfo.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(547-549)ATG>TTG		solute carrier family 25 member 3 isoform a							88.0	85.0	86.0					12																	98992384		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98992384A>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.547A>T	12.37:g.98992384A>T	ENSP00000228318:p.Met183Leu					SLC25A3_uc001tfm.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfn.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfp.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfq.2_Missense_Mutation_p.M52L|SLC25A3_uc001tfr.2_Missense_Mutation_p.M183L|SLC25A3_uc001tfs.2_Missense_Mutation_p.M139L|SLC25A3_uc009ztn.2_Missense_Mutation_p.M182L|SLC25A3_uc001tft.2_Missense_Mutation_p.M182L|SNORA53_uc001tfu.1_5'Flank	p.M183L	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	5	667	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	183			Solcar 2.|Helical; Name=3; (Potential).		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.547A>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022285	0.75275	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	6.17	6.17	0.99709	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	N	0.20530	0.585	0.80722	D	1	B;B;B;B	0.21905	0.004;0.005;0.062;0.004	B;B;B;B	0.36244	0.009;0.05;0.22;0.02	T	0.64812	-0.6319	10	0.41790	T	0.15	-33.6051	16.8222	0.85835	1.0:0.0:0.0:0.0	.	182;182;183;182	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	L	182;182;183;183;182;182;182	ENSP00000383898:M182L;ENSP00000188376:M182L;ENSP00000228318:M183L;ENSP00000447310:M183L;ENSP00000448708:M182L;ENSP00000447740:M182L;ENSP00000449166:M182L	ENSP00000188376:M182L	M	+	1	0	SLC25A3	97516515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.825000	0.92029	2.371000	0.80710	0.533000	0.62120	ATG		0.458	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		30	40	0	0	0	0.008361	0	30	40				
C12orf42	374470	broad.mit.edu	37	12	103872158	103872158	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:103872158A>T	ENST00000378113.2	-	2	272	c.47T>A	c.(46-48)cTa>cAa	p.L16Q	C12orf42_ENST00000548883.1_Missense_Mutation_p.L16Q|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.L16Q	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	16								p.L16Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTGATGGTTAGCAAGAATTC	0.348																																							uc001tjt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(46-48)CTA>CAA		hypothetical protein LOC374470							161.0	144.0	149.0					12																	103872158		1861	4087	5948	SO:0001583	missense	374470							g.chr12:103872158A>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.47T>A	12.37:g.103872158A>T	ENSP00000367353:p.Leu16Gln					C12orf42_uc001tjs.2_RNA|C12orf42_uc009zuf.1_Missense_Mutation_p.L16Q|C12orf42_uc001tju.2_5'UTR	p.L16Q	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			2	135	-			16					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.47T>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970626	0.34754	.	.	ENSG00000179088	ENST00000315192;ENST00000548883;ENST00000378113;ENST00000552578	T;T;T;T	0.57436	0.4;1.07;1.07;1.04	3.32	0.943	0.19531	.	.	.	.	.	T	0.48572	0.1507	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.32613	-0.9900	9	0.87932	D	0	-1.4081	4.7656	0.13130	0.7103:0.0:0.2897:0.0	.	16	Q96LP6	CL042_HUMAN	Q	16	ENSP00000324984:L16Q;ENSP00000447908:L16Q;ENSP00000367353:L16Q;ENSP00000447795:L16Q	ENSP00000324984:L16Q	L	-	2	0	C12orf42	102396288	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.432000	0.21461	0.195000	0.20347	0.459000	0.35465	CTA		0.348	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		11	7	0	0	0	0.00245	0	11	7				
GLT8D2	83468	broad.mit.edu	37	12	104393245	104393245	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:104393245A>G	ENST00000360814.4	-	6	737	c.332T>C	c.(331-333)gTg>gCg	p.V111A	GLT8D2_ENST00000546436.1_Missense_Mutation_p.V111A|GLT8D2_ENST00000548660.1_Missense_Mutation_p.V111A	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	111						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V111A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GTTGAATTCCACGATTTTAAA	0.428																																							uc001tkh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(331-333)GTG>GCG		glycosyltransferase 8 domain containing 2							183.0	174.0	177.0					12																	104393245		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104393245A>G	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.332T>C	12.37:g.104393245A>G	ENSP00000354053:p.Val111Ala					GLT8D2_uc001tki.1_Missense_Mutation_p.V111A	p.V111A	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			6	738	-			111			Lumenal (Potential).		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.332T>C	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183274	0.57800	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000546851	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.79	4.63	0.57726	.	0.190464	0.46758	D	0.000279	T	0.30103	0.0754	L	0.39245	1.2	0.80722	D	1	P	0.48407	0.91	P	0.51806	0.68	T	0.01839	-1.1263	10	0.18710	T	0.47	.	13.0313	0.58842	0.8653:0.1347:0.0:0.0	.	111	Q9H1C3	GL8D2_HUMAN	A	111;111;111;50	ENSP00000354053:V111A;ENSP00000449750:V111A;ENSP00000447450:V111A;ENSP00000446810:V50A	ENSP00000354053:V111A	V	-	2	0	GLT8D2	102917375	1.000000	0.71417	0.969000	0.41365	0.590000	0.36582	8.402000	0.90205	0.999000	0.39023	0.533000	0.62120	GTG		0.428	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		56	47	0	0	0	0.00361	0	56	47				
UNG	7374	broad.mit.edu	37	12	109547647	109547647	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:109547647T>G	ENST00000242576.2	+	7	921	c.815T>G	c.(814-816)gTa>gGa	p.V272G	RP11-968O1.5_ENST00000541704.2_RNA|UNG_ENST00000336865.2_Missense_Mutation_p.V263G	NM_080911.2	NP_550433.1			uracil-DNA glycosylase									p.V263G(1)|p.V272G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGGCACCATGTACTACAGACG	0.413								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																														uc001tnz.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(814-816)GTA>GGA	BER_DNA_glycosylases	uracil-DNA glycosylase isoform UNG2							132.0	130.0	131.0					12																	109547647		2203	4300	6503	SO:0001583	missense	7374	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109547647T>G	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.815T>G	12.37:g.109547647T>G	ENSP00000242576:p.Val272Gly					UNG_uc001toa.1_Missense_Mutation_p.V263G	p.V272G	NM_080911	NP_550433	P13051	UNG_HUMAN			7	885	+			272						Missense_Mutation	SNP	ENST00000242576.2	37	c.815T>G	CCDS9124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.40|13.40	2.225482|2.225482	0.39300|0.39300	.|.	.|.	ENSG00000076248|ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518|ENST00000542183	T;T|.	0.60797|.	0.16;0.16|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Uracil-DNA glycosylase-like (3);|.	0.118612|.	0.56097|.	D|.	0.000037|.	D|D	0.89653|0.89653	0.6777|0.6777	H|H	0.99156|0.99156	4.45|4.45	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.994;0.981|.	D|D	0.93811|0.93811	0.7110|0.7110	10|6	0.87932|0.87932	D|D	0|0	-20.9086|-20.9086	15.3589|15.3589	0.74453|0.74453	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	263;272|.	E5KTA6;P13051|.	.;UNG_HUMAN|.	G|D	272;263;229|26	ENSP00000242576:V272G;ENSP00000337398:V263G|.	ENSP00000242576:V272G|ENSP00000438623:Y26D	V|Y	+|+	2|1	0|0	UNG|UNG	108032030|108032030	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.823000|0.823000	0.46562|0.46562	7.502000|7.502000	0.81614|0.81614	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	GTA|TAC		0.413	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		3	157	0	0	0	0.009096	0	3	157				
RIMBP2	23504	broad.mit.edu	37	12	130907094	130907094	+	Missense_Mutation	SNP	G	G	C	rs562256531	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:130907094G>C	ENST00000261655.4	-	13	2537	c.2374C>G	c.(2374-2376)Cca>Gca	p.P792A	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	792					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P792A(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCAGAGGCTGGGTTCCCTAAA	0.537																																							uc001uil.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2374-2376)CCA>GCA		RIM-binding protein 2							26.0	25.0	26.0					12																	130907094		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130907094G>C	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2374C>G	12.37:g.130907094G>C	ENSP00000261655:p.Pro792Ala						p.P792A	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	13	2538	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	792					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2374C>G	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662282	0.29515	.	.	ENSG00000060709	ENST00000261655	T	0.18960	2.18	4.9	1.91	0.25777	.	0.957446	0.08693	N	0.907667	T	0.13543	0.0328	L	0.29908	0.895	0.36972	D	0.89388	B	0.06786	0.001	B	0.06405	0.002	T	0.21280	-1.0250	10	0.15952	T	0.53	-3.8146	5.682	0.17782	0.0777:0.1397:0.6377:0.1449	.	792	O15034	RIMB2_HUMAN	A	792	ENSP00000261655:P792A	ENSP00000261655:P792A	P	-	1	0	RIMBP2	129473047	1.000000	0.71417	0.268000	0.24571	0.955000	0.61496	2.221000	0.42917	0.075000	0.16796	0.561000	0.74099	CCA		0.537	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	27	0	0	0	0.009096	0	4	27				
RIMBP2	23504	broad.mit.edu	37	12	130963483	130963483	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:130963483G>T	ENST00000261655.4	-	3	239	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	26					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q26K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTTCCTGCTGCTTGGCACTG	0.662																																							uc001uil.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(76-78)CAG>AAG		RIM-binding protein 2							54.0	57.0	56.0					12																	130963483		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130963483G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.76C>A	12.37:g.130963483G>T	ENSP00000261655:p.Gln26Lys					RIMBP2_uc001uim.2_5'UTR	p.Q26K	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	240	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	26					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.76C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610590	0.87258	.	.	ENSG00000060709	ENST00000261655	T	0.27890	1.64	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000003	T	0.55401	0.1918	M	0.80746	2.51	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	T	0.63184	-0.6694	10	0.62326	D	0.03	-23.0291	14.8603	0.70376	0.0:0.0:1.0:0.0	.	26	O15034	RIMB2_HUMAN	K	26	ENSP00000261655:Q26K	ENSP00000261655:Q26K	Q	-	1	0	RIMBP2	129529436	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.349000	0.90067	1.788000	0.52465	0.491000	0.48974	CAG		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		16	52	1	0	5.35267e-07	0.007413	6.282e-07	16	52				
GPR133	283383	broad.mit.edu	37	12	131466608	131466608	+	Splice_Site	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:131466608G>C	ENST00000261654.5	+	5	1049	c.490G>C	c.(490-492)Ggc>Cgc	p.G164R	GPR133_ENST00000535015.1_Splice_Site_p.G196R	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	164					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G164R(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGCCCCCCAGGTGAGTGACA	0.612																																							uc001uit.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(490-492)GGC>CGC		G protein-coupled receptor 133 precursor							56.0	55.0	55.0					12																	131466608		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466608G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.490+1G>C	12.37:g.131466608G>C						GPR133_uc010tbm.1_Missense_Mutation_p.G196R	p.G164R	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	1049	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		164			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.490G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	16.80	3.222242	0.58560	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.73152	-0.72;-0.72	4.23	3.34	0.38264	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.065190	0.64402	D	0.000009	D	0.82930	0.5144	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84321	0.0516	10	0.87932	D	0	.	11.6202	0.51113	0.0877:0.0:0.9123:0.0	.	196;164	B7ZLF7;Q6QNK2	.;GP133_HUMAN	R	164;196	ENSP00000261654:G164R;ENSP00000444425:G196R	ENSP00000261654:G164R	G	+	1	0	GPR133	130032561	1.000000	0.71417	0.912000	0.35992	0.357000	0.29423	7.921000	0.87530	0.891000	0.36235	0.558000	0.71614	GGC		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation	6	43	0	0	0	0.001984	0	6	43				
GPR133	283383	broad.mit.edu	37	12	131490582	131490582	+	Missense_Mutation	SNP	G	G	T	rs375271891		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:131490582G>T	ENST00000261654.5	+	12	1880	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	GPR133_ENST00000376682.4_Missense_Mutation_p.A127S|GPR133_ENST00000535015.1_Missense_Mutation_p.A473S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	441					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A441S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CATCTGGCCCGCCCACACCAA	0.652																																							uc001uit.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1321-1323)GCC>TCC		G protein-coupled receptor 133 precursor							107.0	78.0	88.0					12																	131490582		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131490582G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1321G>T	12.37:g.131490582G>T	ENSP00000261654:p.Ala441Ser					GPR133_uc010tbm.1_Missense_Mutation_p.A473S	p.A441S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	12	1880	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		441			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1321G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655780	0.47467	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.41758	0.99;0.99;0.99	4.56	1.59	0.23543	.	0.619279	0.15480	N	0.260130	T	0.30572	0.0769	L	0.43923	1.385	0.09310	N	1	B;B	0.27823	0.19;0.053	B;B	0.26517	0.07;0.018	T	0.16070	-1.0415	10	0.37606	T	0.19	.	6.6355	0.22881	0.3054:0.0:0.6946:0.0	.	473;441	B7ZLF7;Q6QNK2	.;GP133_HUMAN	S	441;473;132;137;127	ENSP00000261654:A441S;ENSP00000444425:A473S;ENSP00000365872:A127S	ENSP00000261654:A441S	A	+	1	0	GPR133	130056535	0.000000	0.05858	0.007000	0.13788	0.404000	0.30871	0.658000	0.24979	0.863000	0.35553	0.313000	0.20887	GCC		0.652	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		11	19	1	0	3.86212e-05	0.008291	4.30661e-05	11	19				
FLT3	2322	broad.mit.edu	37	13	28623625	28623625	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:28623625C>T	ENST00000241453.7	-	8	1013	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	FLT3_ENST00000537084.1_Missense_Mutation_p.R311Q|FLT3_ENST00000380982.4_Missense_Mutation_p.R311Q	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	311	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R311Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAACAGAATCCGTATCATAGT	0.378			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(931-933)CGG>CAG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						156.0	142.0	146.0					13																	28623625		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28623625C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.932G>A	13.37:g.28623625C>T	ENSP00000241453:p.Arg311Gln					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R311Q	p.R311Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	8	1014	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	311			Extracellular (Potential).|Ig-like C2-type.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.932G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972586	0.92919	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.42131	0.98;0.98;0.98	5.62	5.62	0.85841	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.52403	0.1732	L	0.27053	0.805	0.44539	D	0.997493	D;D	0.89917	1.0;1.0	D;D	0.87578	0.982;0.998	T	0.45659	-0.9246	10	0.37606	T	0.19	.	17.1787	0.86849	0.0:1.0:0.0:0.0	.	311;311	P36888-2;P36888	.;FLT3_HUMAN	Q	311	ENSP00000241453:R311Q;ENSP00000370369:R311Q;ENSP00000438139:R311Q	ENSP00000241453:R311Q	R	-	2	0	FLT3	27521625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.533000	0.60615	2.809000	0.96659	0.655000	0.94253	CGG		0.378	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			36	46	0	0	0	0.002836	0	36	46				
FRY	10129	broad.mit.edu	37	13	32811922	32811922	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:32811922C>T	ENST00000380250.3	+	44	6713	c.6217C>T	c.(6217-6219)Cat>Tat	p.H2073Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2073						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H2073Y(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTACTGGCACATATGCCACT	0.517																																							uc001utx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(6217-6219)CAT>TAT		furry homolog							52.0	54.0	53.0					13																	32811922		1960	4156	6116	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811922C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6217C>T	13.37:g.32811922C>T	ENSP00000369600:p.His2073Tyr					FRY_uc010tdw.1_RNA	p.H2073Y	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6713	+		Lung SC(185;0.0271)	2073					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6217C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496129	0.85069	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22743	1.94	6.03	6.03	0.97812	.	0.144575	0.64402	D	0.000006	T	0.39253	0.1071	L	0.50333	1.59	0.80722	D	1	P	0.51653	0.947	P	0.56042	0.79	T	0.02037	-1.1225	10	0.66056	D	0.02	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2073	Q5TBA9	FRY_HUMAN	Y	2073;910	ENSP00000369600:H2073Y	ENSP00000369600:H2073Y	H	+	1	0	FRY	31709922	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	2.608000	0.46308	2.861000	0.98227	0.655000	0.94253	CAT		0.517	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		3	33	0	0	0	0.009096	0	3	33				
TRPC4	7223	broad.mit.edu	37	13	38225534	38225534	+	Missense_Mutation	SNP	T	T	G	rs114508439		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:38225534T>G	ENST00000379705.3	-	8	2804	c.1947A>C	c.(1945-1947)gaA>gaC	p.E649D	TRPC4_ENST00000358477.2_Missense_Mutation_p.E649D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.E476D|TRPC4_ENST00000447043.1_Missense_Mutation_p.E649D|TRPC4_ENST00000355779.2_Missense_Mutation_p.E649D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.E649D|TRPC4_ENST00000338947.5_Missense_Mutation_p.E476D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	649	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E649D(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGTACCTCCTTCTTCAAAAT	0.433																																							uc001uws.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(1945-1947)GAA>GAC		transient receptor potential cation channel,							134.0	131.0	132.0					13																	38225534		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225534T>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1947A>C	13.37:g.38225534T>G	ENSP00000369027:p.Glu649Asp					TRPC4_uc010abv.2_Missense_Mutation_p.E229D|TRPC4_uc001uwt.2_Missense_Mutation_p.E649D|TRPC4_uc010tey.1_Missense_Mutation_p.E649D|TRPC4_uc010abw.2_Missense_Mutation_p.E476D|TRPC4_uc010abx.2_Missense_Mutation_p.E649D|TRPC4_uc010aby.2_Intron	p.E649D	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2182	-			649			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1947A>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258361	0.59321	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	L	0.35723	1.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.98;0.999;0.997;0.997	D	0.85166	0.0995	10	0.20046	T	0.44	-29.474	15.9025	0.79392	0.0:0.0:0.0:1.0	.	649;649;476;649;649	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	D	649;649;476;476;649;649;649	ENSP00000369027:E649D;ENSP00000369003:E649D;ENSP00000342580:E476D;ENSP00000369001:E476D;ENSP00000348025:E649D;ENSP00000351264:E649D;ENSP00000414316:E649D	ENSP00000342580:E476D	E	-	3	2	TRPC4	37123534	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.467000	0.53078	2.226000	0.72624	0.459000	0.35465	GAA		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	34	0	0	0	0.001882	0	22	34				
FREM2	341640	broad.mit.edu	37	13	39438599	39438599	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39438599G>C	ENST00000280481.7	+	16	8055	c.7839G>C	c.(7837-7839)caG>caC	p.Q2613H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2613					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2613H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCTTACCAGTACAGCTTGT	0.443																																							uc001uwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7837-7839)CAG>CAC		FRAS1-related extracellular matrix protein 2							169.0	156.0	161.0					13																	39438599		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438599G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7839G>C	13.37:g.39438599G>C	ENSP00000280481:p.Gln2613His					FREM2_uc001uww.2_Missense_Mutation_p.Q699H	p.Q2613H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	16	8148	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2613			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7839G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453007	0.43531	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.89095	3.005	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.61681	-0.7013	10	0.87932	D	0	.	11.5308	0.50610	0.1943:0.0:0.8057:0.0	.	2613;2613	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	H	2613	ENSP00000280481:Q2613H	ENSP00000280481:Q2613H	Q	+	3	2	FREM2	38336599	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	2.286000	0.43496	2.651000	0.90000	0.650000	0.86243	CAG		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		45	52	0	0	0	0.00361	0	45	52				
STOML3	161003	broad.mit.edu	37	13	39550731	39550731	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39550731G>T	ENST00000379631.4	-	3	519	c.175C>A	c.(175-177)Cgt>Agt	p.R59S	STOML3_ENST00000423210.1_Missense_Mutation_p.R50S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	59					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.R59S(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACAACAGCACGTTCATACTCC	0.483																																							uc001uwx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)CGT>AGT		stomatin-like 3 isoform 1							119.0	104.0	109.0					13																	39550731		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39550731G>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.175C>A	13.37:g.39550731G>T	ENSP00000368952:p.Arg59Ser					STOML3_uc010tez.1_Missense_Mutation_p.R50S	p.R59S	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	3	313	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	59			Cytoplasmic (Potential).		B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.175C>A	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635000	0.87760	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.94687	-3.49;-3.49	5.87	5.87	0.94306	.	0.094343	0.85682	D	0.000000	D	0.97854	0.9295	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98344	1.0540	10	0.87932	D	0	-11.2814	18.7652	0.91869	0.0:0.0:1.0:0.0	.	50;59	B4E285;Q8TAV4	.;STML3_HUMAN	S	59;50	ENSP00000368952:R59S;ENSP00000401989:R50S	ENSP00000368952:R59S	R	-	1	0	STOML3	38448731	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	5.919000	0.70005	2.763000	0.94921	0.655000	0.94253	CGT		0.483	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			30	14	1	0	6.00712e-18	0.002445	8.55917e-18	30	14				
PROSER1	80209	broad.mit.edu	37	13	39586281	39586281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39586281G>T	ENST00000352251.3	-	12	3484	c.2651C>A	c.(2650-2652)tCa>tAa	p.S884*	PROSER1_ENST00000484434.3_5'UTR|PROSER1_ENST00000350125.3_Nonsense_Mutation_p.S862*	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	884								p.S884*(1)									GGATGATTGTGAAGGATTCTG	0.453																																							uc001uwy.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(2650-2652)TCA>TAA		hypothetical protein LOC80209 isoform 1							163.0	175.0	171.0					13																	39586281		2203	4300	6503	SO:0001587	stop_gained	80209							g.chr13:39586281G>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2651C>A	13.37:g.39586281G>T	ENSP00000332034:p.Ser884*					C13orf23_uc001uwz.2_Nonsense_Mutation_p.S862*	p.S884*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	12	3524	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	884					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Nonsense_Mutation	SNP	ENST00000352251.3	37	c.2651C>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	47	13.200817	0.99726	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1945	18.8007	0.92015	0.0:0.0:1.0:0.0	.	.	.	.	X	884;862	.	.	S	-	2	0	PROSER1	38484281	1.000000	0.71417	0.889000	0.34880	0.400000	0.30750	7.759000	0.85235	2.778000	0.95560	0.650000	0.86243	TCA		0.453	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		61	91	1	0	6.20203e-27	0.00361	9.42191e-27	61	91				
PCDH17	27253	broad.mit.edu	37	13	58207235	58207235	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:58207235C>T	ENST00000377918.3	+	1	581	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	185	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)	p.S185S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGTTAAGTCCCGCGGCGACG	0.637																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(553-555)TCC>TCT		protocadherin 17 precursor							31.0	32.0	32.0					13																	58207235		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207235C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.555C>T	13.37:g.58207235C>T						PCDH17_uc010aec.1_Silent_p.S185S	p.S185S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1447	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	185			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.555C>T	CCDS31986.1																																																																																				0.637	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	12	0	0	0	0.001168	0	4	12				
DACH1	1602	broad.mit.edu	37	13	72134027	72134027	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:72134027T>A	ENST00000359684.2	-	6	1521	c.1522A>T	c.(1522-1524)Agt>Tgt	p.S508C	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.S456C|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	508					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.S456C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GATGGGTGACTGCCAGGCCTT	0.567																																							uc010thn.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1360-1362)AGT>TGT		dachshund homolog 1 isoform a							41.0	46.0	45.0					13																	72134027		2052	4210	6262	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72134027T>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1522A>T	13.37:g.72134027T>A	ENSP00000352712:p.Ser508Cys					DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.S454C	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	6	1783	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	506					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1360A>T		.	.	.	.	.	.	.	.	.	.	T	26.9	4.782394	0.90282	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.42513	1.06;0.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.68250	-0.5458	10	0.87932	D	0	-10.291	16.1255	0.81392	0.0:0.0:0.0:1.0	.	454	Q9UI36-2	.	C	456;508;508	ENSP00000304994:S456C;ENSP00000352712:S508C	ENSP00000304994:S456C	S	-	1	0	DACH1	71032028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.205000	0.71048	0.477000	0.44152	AGT		0.567	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		9	14	0	0	0	0.008291	0	9	14				
PIBF1	10464	broad.mit.edu	37	13	73468017	73468017	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:73468017T>G	ENST00000326291.6	+	11	1756	c.1418T>G	c.(1417-1419)cTg>cGg	p.L473R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	473						centrosome (GO:0005813)		p.L473R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTTCAACTTCTGCAAGAGGAA	0.333																																							uc001vjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1417-1419)CTG>CGG		progesterone-induced blocking factor 1							88.0	88.0	88.0					13																	73468017		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73468017T>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1418T>G	13.37:g.73468017T>G	ENSP00000317144:p.Leu473Arg					PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.L473R|PIBF1_uc010aep.2_Intron	p.L473R	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1723	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	473					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1418T>G	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213084	0.79352	.	.	ENSG00000083535	ENST00000326291	T	0.27104	1.69	5.0	5.0	0.66597	.	0.565532	0.18362	N	0.143550	T	0.36524	0.0970	L	0.61218	1.895	0.43919	D	0.996563	P;P	0.45212	0.731;0.853	P;B	0.49999	0.628;0.421	T	0.07065	-1.0792	10	0.16420	T	0.52	-1.4089	14.9973	0.71443	0.0:0.0:0.0:1.0	.	473;473	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	R	473	ENSP00000317144:L473R	ENSP00000317144:L473R	L	+	2	0	PIBF1	72366018	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	6.867000	0.75511	2.005000	0.58758	0.528000	0.53228	CTG		0.333	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		17	26	0	0	0	0.007413	0	17	26				
DZIP1	22873	broad.mit.edu	37	13	96238287	96238287	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:96238287G>C	ENST00000376829.2	-	21	3173	c.2322C>G	c.(2320-2322)atC>atG	p.I774M	DZIP1_ENST00000347108.3_Missense_Mutation_p.I774M|DZIP1_ENST00000361396.2_Missense_Mutation_p.I755M|DZIP1_ENST00000361156.3_Missense_Mutation_p.I755M	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	774					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I755M(1)|p.I774M(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTCTTTTTTGATAAACATCT	0.348																																							uc001vmk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2320-2322)ATC>ATG		DAZ interacting protein 1 isoform 2							172.0	163.0	166.0					13																	96238287		2201	4299	6500	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96238287G>C	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2322C>G	13.37:g.96238287G>C	ENSP00000366025:p.Ile774Met					DZIP1_uc001vmi.2_Missense_Mutation_p.I22M|DZIP1_uc001vmj.2_Missense_Mutation_p.I250M|DZIP1_uc001vml.2_Missense_Mutation_p.I755M|DZIP1_uc001vmm.2_5'Flank	p.I774M	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		21	3174	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		774					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2322C>G	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534110	0.13188	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.09073	3.05;3.02;3.02;3.05	5.52	1.58	0.23477	.	1.146690	0.06177	N	0.678765	T	0.08492	0.0211	L	0.52364	1.645	0.09310	N	0.999998	P;P	0.38729	0.644;0.512	B;B	0.34931	0.192;0.094	T	0.34502	-0.9826	10	0.45353	T	0.12	-0.0642	4.2319	0.10608	0.2996:0.3232:0.3772:0.0	.	755;774	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	774;755;755;774	ENSP00000257312:I774M;ENSP00000355018:I755M;ENSP00000355175:I755M;ENSP00000366025:I774M	ENSP00000257312:I774M	I	-	3	3	DZIP1	95036288	0.983000	0.35010	0.010000	0.14722	0.487000	0.33371	0.442000	0.21628	0.278000	0.22164	0.655000	0.94253	ATC		0.348	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		11	43	0	0	0	0.000978	0	11	43				
SPACA7	122258	broad.mit.edu	37	13	113088847	113088847	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:113088847G>T	ENST00000283550.3	+	7	639	c.572G>T	c.(571-573)aGc>aTc	p.S191I	SPACA7_ENST00000375699.3_Missense_Mutation_p.S160I	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	191						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.S191I(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CAGAGGAGGAGCCAAGGCAGT	0.587																																							uc001vsd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)AGC>ATC		hypothetical protein LOC122258 precursor							67.0	58.0	61.0					13																	113088847		2197	4299	6496	SO:0001583	missense	122258					extracellular region		g.chr13:113088847G>T	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.572G>T	13.37:g.113088847G>T	ENSP00000283550:p.Ser191Ile						p.S191I	NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN			7	603	+	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)		191					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.572G>T	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049763	0.36181	.	.	ENSG00000153498	ENST00000283550;ENST00000375699	T;T	0.55052	0.59;0.54	2.62	0.666	0.17901	.	.	.	.	.	T	0.33789	0.0875	N	0.14661	0.345	0.09310	N	1	P	0.48016	0.904	B	0.42625	0.393	T	0.17745	-1.0359	9	0.87932	D	0	.	6.7934	0.23711	0.0:0.0:0.4951:0.5049	.	191	Q96KW9	SPAC7_HUMAN	I	191;160	ENSP00000283550:S191I;ENSP00000364851:S160I	ENSP00000283550:S191I	S	+	2	0	SPACA7	112136848	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.055000	0.30467	0.140000	0.18849	0.491000	0.48974	AGC		0.587	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		7	11	1	0	0.000274275	0.004482	0.000300085	7	11				
OR4N2	390429	broad.mit.edu	37	14	20296000	20296000	+	Missense_Mutation	SNP	C	C	A	rs2873667		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:20296000C>A	ENST00000315947.1	+	1	393	c.393C>A	c.(391-393)caC>caA	p.H131Q	OR4N2_ENST00000568211.1_Missense_Mutation_p.H131Q	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H131Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTCTGCACTATCCTACTG	0.522																																							uc010tkv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(391-393)CAC>CAA		olfactory receptor, family 4, subfamily N,							201.0	214.0	210.0					14																	20296000		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296000C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.393C>A	14.37:g.20296000C>A	ENSP00000319601:p.His131Gln						p.H131Q	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	393	+	all_cancers(95;0.00108)		131			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.393C>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	9.659	1.143520	0.21205	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01152	5.26;5.26	4.53	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.02119	0.0066	M	0.75150	2.29	0.25552	N	0.987072	B	0.21452	0.056	B	0.24155	0.051	T	0.29427	-1.0012	10	0.87932	D	0	-7.9151	8.3466	0.32277	0.0:0.8403:0.0:0.1597	.	131	Q8NGD1	OR4N2_HUMAN	Q	131	ENSP00000452022:H131Q;ENSP00000319601:H131Q	ENSP00000319601:H131Q	H	+	3	2	OR4N2	19365840	0.000000	0.05858	0.970000	0.41538	0.481000	0.33189	-0.701000	0.05075	0.903000	0.36546	0.591000	0.81541	CAC		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			86	336	1	0	5.52034e-35	0.00361	8.6734e-35	86	336				
OR4K5	79317	broad.mit.edu	37	14	20389640	20389640	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:20389640G>C	ENST00000315915.4	+	1	900	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R292T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAAGGAATAGGGATATGAAG	0.403																																							uc010tkw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(874-876)AGG>ACG		olfactory receptor, family 4, subfamily K,							109.0	122.0	118.0					14																	20389640		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389640G>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.875G>C	14.37:g.20389640G>C	ENSP00000319511:p.Arg292Thr						p.R292T	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	875	+	all_cancers(95;0.00108)		292			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.875G>C	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	9.883	1.202209	0.22121	.	.	ENSG00000176281	ENST00000315915	T	0.38887	1.11	4.28	-1.21	0.09524	.	0.249150	0.27826	N	0.017687	T	0.22936	0.0554	N	0.20445	0.575	0.09310	N	1	B	0.31989	0.35	B	0.30716	0.119	T	0.14699	-1.0463	10	0.54805	T	0.06	.	8.1375	0.31063	0.6604:0.0:0.3396:0.0	.	292	Q8NGD3	OR4K5_HUMAN	T	292	ENSP00000319511:R292T	ENSP00000319511:R292T	R	+	2	0	OR4K5	19459480	0.000000	0.05858	0.001000	0.08648	0.647000	0.38526	-0.089000	0.11180	-0.113000	0.11958	0.655000	0.94253	AGG		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		6	183	0	0	0	0.001984	0	6	183				
OR10G2	26534	broad.mit.edu	37	14	22102704	22102704	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:22102704A>T	ENST00000542433.1	-	1	392	c.295T>A	c.(295-297)Ttt>Att	p.F99I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, 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)	p.F99I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CAGCCACCAAACGGGATAGCC	0.498																																							uc010tmc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(295-297)TTT>ATT		olfactory receptor, family 10, subfamily G,							54.0	52.0	53.0					14																	22102704		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102704A>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.295T>A	14.37:g.22102704A>T	ENSP00000445383:p.Phe99Ile						p.F99I	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	295	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	99			Extracellular (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.295T>A	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	9.410	1.080218	0.20309	.	.	ENSG00000255582	ENST00000542433	T	0.05925	3.37	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.166474	0.28677	N	0.014507	T	0.13286	0.0322	M	0.84326	2.69	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.09037	-1.0693	10	0.87932	D	0	-4.9765	10.5228	0.44929	1.0:0.0:0.0:0.0	.	99	Q8NGC3	O10G2_HUMAN	I	99	ENSP00000445383:F99I	ENSP00000445383:F99I	F	-	1	0	OR10G2	21172544	0.012000	0.17670	0.881000	0.34555	0.127000	0.20565	2.180000	0.42537	1.580000	0.49851	0.460000	0.39030	TTT		0.498	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			7	36	0	0	0	0.00308	0	7	36				
MYH7	4625	broad.mit.edu	37	14	23884905	23884905	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:23884905C>G	ENST00000355349.3	-	35	5252	c.5090G>C	c.(5089-5091)cGg>cCg	p.R1697P	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1697					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.R1697P(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCCGGGACCGCTCTGTCTG	0.622																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5089-5091)CGG>CCG		myosin, heavy chain 7, cardiac muscle, beta							69.0	65.0	66.0					14																	23884905		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884905C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5090G>C	14.37:g.23884905C>G	ENSP00000347507:p.Arg1697Pro						p.R1697P	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5196	-	all_cancers(95;2.54e-05)		1697			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5090G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233456	0.79688	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84873	-1.91	5.41	5.41	0.78517	Myosin tail (1);	.	.	.	.	D	0.95746	0.8616	H	0.98068	4.14	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.96950	0.9694	9	0.87932	D	0	.	19.3981	0.94617	0.0:1.0:0.0:0.0	.	1697	P12883	MYH7_HUMAN	P	1697;1702	ENSP00000347507:R1697P	ENSP00000347507:R1697P	R	-	2	0	MYH7	22954745	0.958000	0.32768	1.000000	0.80357	0.974000	0.67602	5.388000	0.66249	2.826000	0.97356	0.561000	0.74099	CGG		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		13	51	0	0	0	0.001855	0	13	51				
MYH7	4625	broad.mit.edu	37	14	23894191	23894191	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:23894191C>A	ENST00000355349.3	-	22	2628	c.2466G>T	c.(2464-2466)atG>atT	p.M822I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	822			M -> L (in CMH1). {ECO:0000269|PubMed:12820698}.|M -> T (in CMH1). {ECO:0000269|PubMed:15563892}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.M822I(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTTGACCCCCATGAAGGCCC	0.552																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2464-2466)ATG>ATT		myosin, heavy chain 7, cardiac muscle, beta							76.0	76.0	76.0					14																	23894191		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894191C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2466G>T	14.37:g.23894191C>A	ENSP00000347507:p.Met822Ile						p.M822I	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2572	-	all_cancers(95;2.54e-05)		822		M -> L (in CMH1).|M -> T (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2466G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679784	0.88542	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.93366	-3.21	4.6	4.6	0.57074	.	.	.	.	.	D	0.93177	0.7827	M	0.76170	2.325	0.80722	D	1	B	0.17268	0.021	B	0.24269	0.052	D	0.91143	0.4947	9	0.49607	T	0.09	.	17.9586	0.89078	0.0:1.0:0.0:0.0	.	822	P12883	MYH7_HUMAN	I	822	ENSP00000347507:M822I	ENSP00000347507:M822I	M	-	3	0	MYH7	22964031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.210000	0.77924	2.543000	0.85770	0.563000	0.77884	ATG		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		26	72	1	0	3.01185e-09	0.003954	3.73589e-09	26	72				
NOVA1	4857	broad.mit.edu	37	14	26918112	26918112	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:26918112T>A	ENST00000539517.2	-	5	894	c.577A>T	c.(577-579)Act>Tct	p.T193S	NOVA1_ENST00000267422.7_Missense_Mutation_p.T71S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T169S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	196	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T193S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCTTCACAGTAGCACCTCCC	0.433																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(577-579)ACT>TCT		neuro-oncological ventral antigen 1 isoform 1							118.0	116.0	117.0					14																	26918112		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918112T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.577A>T	14.37:g.26918112T>A	ENSP00000438875:p.Thr193Ser					NOVA1_uc001wpz.2_Missense_Mutation_p.T169S|NOVA1_uc001wqa.2_Missense_Mutation_p.T71S	p.T193S	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	895	-			196			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.577A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551200	0.65311	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.67	5.67	0.87782	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.71206	2.165	0.80722	D	1	P;D;D	0.57257	0.933;0.979;0.974	P;D;D	0.71414	0.853;0.973;0.953	T	0.55982	-0.8054	10	0.32370	T	0.25	-17.3172	15.8941	0.79323	0.0:0.0:0.0:1.0	.	196;169;193	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	S	169;193;71;152;47;71;156	ENSP00000447391:T169S;ENSP00000438875:T193S;ENSP00000267422:T71S;ENSP00000408914:T152S;ENSP00000299472:T47S;ENSP00000449113:T71S;ENSP00000449185:T156S	ENSP00000267422:T71S	T	-	1	0	NOVA1	25987952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.460000	0.39030	ACT		0.433	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		39	146	0	0	0	0.00623	0	39	146				
ARHGAP5	394	broad.mit.edu	37	14	32562038	32562039	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:32562038_32562039GG>TT	ENST00000345122.3	+	2	2478_2479	c.2163_2164GG>TT	c.(2161-2166)ttGGca>ttTTca	p.721_722LA>FS	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.721_722LA>FS|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.721_722LA>FS|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.721_722LA>FS	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	721					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.L721_A722>FS(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGCAGCAGTTGGCAAACAAGTT	0.381																																					NSCLC(9;77 350 3443 29227 41353)	NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2161-2166)TTGGCA>TTTTCA		Rho GTPase activating protein 5 isoform b																																				SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562038_32562039GG>TT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		Exception_encountered	14.37:g.32562038_32562039delinsTT	ENSP00000371897:p.L721_A722delinsFS					ARHGAP5_uc001wrm.2_Missense_Mutation_p.721_722LA>FS|ARHGAP5_uc001wrn.2_Missense_Mutation_p.721_722LA>FS|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.721_722LA>FS	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2402_2403	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		721_722					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	DNP	ENST00000345122.3	37	c.2163_2164GG>TT	CCDS32062.1																																																																																				0.381	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		16	49	0	0	0	0.004672	0	16	49				
EAPP	55837	broad.mit.edu	37	14	34998672	34998672	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:34998672G>A	ENST00000250454.3	-	4	443	c.362C>T	c.(361-363)aCc>aTc	p.T121I		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	121					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T121I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTTTTTCTTGGTCACCTGTAC	0.353																																							uc001wsd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(361-363)ACC>ATC		E2F-associated phosphoprotein							100.0	88.0	92.0					14																	34998672		1831	4083	5914	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34998672G>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.362C>T	14.37:g.34998672G>A	ENSP00000250454:p.Thr121Ile						p.T121I	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	4	471	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		121					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.362C>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016927	0.19355	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.45276	0.9;0.9	5.38	2.36	0.29203	.	0.464992	0.26669	N	0.023120	T	0.30262	0.0759	L	0.44542	1.39	0.25147	N	0.990453	B	0.06786	0.001	B	0.06405	0.002	T	0.15435	-1.0437	10	0.34782	T	0.22	0.1542	6.7446	0.23454	0.135:0.0:0.5252:0.3399	.	121	Q56P03	EAPP_HUMAN	I	121;100	ENSP00000250454:T121I;ENSP00000450908:T100I	ENSP00000250454:T121I	T	-	2	0	EAPP	34068423	0.123000	0.22298	0.972000	0.41901	0.661000	0.39034	0.306000	0.19279	0.752000	0.32923	-0.237000	0.12165	ACC		0.353	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		10	38	0	0	0	0.008291	0	10	38				
PSMA6	5687	broad.mit.edu	37	14	35777229	35777229	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:35777229G>A	ENST00000261479.4	+	2	226	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	PSMA6_ENST00000553809.1_Missense_Mutation_p.G36S|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.G36S|PSMA6_ENST00000540871.1_Missense_Mutation_p.G17S	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.G36S(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TAACCAGGGTGGCCTTACATC	0.348																																							uc001wtd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GGC>AGC		proteasome alpha 6 subunit							81.0	79.0	80.0					14																	35777229		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35777229G>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.106G>A	14.37:g.35777229G>A	ENSP00000261479:p.Gly36Ser					KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Intron|PSMA6_uc010tpu.1_5'UTR	p.G36S	NM_002791	NP_002782	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	2	215	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		36					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.106G>A	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087861	0.94100	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000556506	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.75615	2.305	0.80722	D	1	D	0.53462	0.96	P	0.48598	0.583	T	0.75010	-0.3468	10	0.54805	T	0.06	-6.6482	19.3667	0.94466	0.0:0.0:1.0:0.0	.	36	P60900	PSA6_HUMAN	S	17;36;36;36	ENSP00000444844:G17S;ENSP00000261479:G36S;ENSP00000452603:G36S;ENSP00000450528:G36S	ENSP00000261479:G36S	G	+	1	0	PSMA6	34846980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.737000	0.98831	2.638000	0.89438	0.655000	0.94253	GGC		0.348	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			24	45	0	0	0	0.003954	0	24	45				
FSCB	84075	broad.mit.edu	37	14	44974165	44974165	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:44974165C>T	ENST00000340446.4	-	1	2317	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	676	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E676K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCCTCCTCAGCTGGTGGA	0.612																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2026-2028)GAG>AAG		fibrous sheath CABYR binding protein							21.0	25.0	24.0					14																	44974165		2197	4298	6495	SO:0001583	missense	84075					cilium		g.chr14:44974165C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2026G>A	14.37:g.44974165C>T	ENSP00000344579:p.Glu676Lys						p.E676K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2335	-			676			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2026G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492269	0.64074	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.16196	2.36	4.68	3.79	0.43588	.	.	.	.	.	T	0.18593	0.0446	L	0.61218	1.895	0.23640	N	0.997228	P	0.50943	0.94	P	0.47015	0.534	T	0.04320	-1.0960	9	0.07030	T	0.85	-0.497	7.4874	0.27441	0.0:0.807:0.0:0.193	.	676	Q5H9T9	FSCB_HUMAN	K	676;569	ENSP00000344579:E676K	ENSP00000344579:E676K	E	-	1	0	FSCB	44043915	0.000000	0.05858	0.045000	0.18777	0.287000	0.27160	0.202000	0.17295	1.346000	0.45694	0.505000	0.49811	GAG		0.612	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		14	21	0	0	0	0.00245	0	14	21				
FANCM	57697	broad.mit.edu	37	14	45668130	45668130	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:45668130G>C	ENST00000267430.5	+	22	6085	c.6000G>C	c.(5998-6000)atG>atC	p.M2000I	FANCM_ENST00000542564.2_Missense_Mutation_p.M1974I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				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)	p.M2000I(2)		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						TGAAAAGGATGGCTAACAGGT	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)	7						c.(5998-6000)ATG>ATC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							37.0	41.0	39.0					14																	45668130		2203	4299	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.chr14:45668130G>C	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.6000G>C	14.37:g.45668130G>C	ENSP00000267430:p.Met2000Ile					FANCM_uc010anf.2_Missense_Mutation_p.M1974I|FANCM_uc001wwe.3_Missense_Mutation_p.M1536I|FANCM_uc010ang.2_Missense_Mutation_p.M1249I	p.M2000I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			22	6099	+			2000			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.6000G>C	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611510|3.611510	0.66558|0.66558	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.10099	.|2.91;2.91;2.91	5.58|5.58	5.58|5.58	0.84498|0.84498	.|RuvA domain 2-like (1);	.|0.049370	.|0.85682	.|D	.|0.000000	T|T	0.31670|0.31670	0.0804|0.0804	M|M	0.72894|0.72894	2.215|2.215	0.36227|0.36227	D|D	0.852355|0.852355	.|D;D	.|0.69078	.|0.997;0.996	.|D;P	.|0.73380	.|0.98;0.874	T|T	0.17198|0.17198	-1.0377|-1.0377	5|10	.|0.48119	.|T	.|0.1	.|.	14.8659|14.8659	0.70416|0.70416	0.0:0.0:0.8557:0.1443|0.0:0.0:0.8557:0.1443	.|.	.|1974;2000	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	R|I	968|2000;1974;1516	.|ENSP00000267430:M2000I;ENSP00000442493:M1974I;ENSP00000452033:M1516I	.|ENSP00000267430:M2000I	G|M	+|+	1|3	0|0	FANCM|FANCM	44737880|44737880	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	4.846000|4.846000	0.62860|0.62860	2.612000|2.612000	0.88384|0.88384	0.563000|0.563000	0.77884|0.77884	GGC|ATG		0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	45	0	0	0	0.009096	0	4	45				
PELI2	57161	broad.mit.edu	37	14	56755250	56755250	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:56755250C>T	ENST00000267460.4	+	4	691	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	135	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.T135T(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACAGAGCACCATATCCAGGT	0.507																																							uc001xch.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(403-405)ACC>ACT		pellino 2							103.0	85.0	91.0					14																	56755250		2203	4300	6503	SO:0001819	synonymous_variant	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56755250C>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.405C>T	14.37:g.56755250C>T							p.T135T	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			4	691	+			135					B2RDY5	Silent	SNP	ENST00000267460.4	37	c.405C>T	CCDS9726.1																																																																																				0.507	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			11	27	0	0	0	0.000978	0	11	27				
FUT8	2530	broad.mit.edu	37	14	66082969	66082969	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:66082969A>C	ENST00000360689.5	+	5	2087	c.360A>C	c.(358-360)gaA>gaC	p.E120D	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.E120D|FUT8_ENST00000394586.2_Missense_Mutation_p.E120D	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	120					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.E120D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGAGGATTGAAAATGGAGCTA	0.363																																							uc001xin.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(358-360)GAA>GAC		fucosyltransferase 8 isoform a							61.0	66.0	65.0					14																	66082969		2201	4300	6501	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66082969A>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.360A>C	14.37:g.66082969A>C	ENSP00000353910:p.Glu120Asp					FUT8_uc001xio.2_Missense_Mutation_p.E120D|FUT8_uc010tsp.1_5'UTR|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.E120D|FUT8_uc001xiq.2_5'UTR	p.E120D	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	5	1557	+			120			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.360A>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266959	0.40095	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.23147	1.92;1.92;1.92	5.81	5.81	0.92471	.	0.046663	0.85682	D	0.000000	T	0.22627	0.0546	L	0.39397	1.21	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03524	-1.1028	10	0.26408	T	0.33	-18.392	14.1259	0.65219	1.0:0.0:0.0:0.0	.	120	Q9BYC5	FUT8_HUMAN	D	120	ENSP00000353910:E120D;ENSP00000378087:E120D;ENSP00000378086:E120D	ENSP00000345865:E120D	E	+	3	2	FUT8	65152722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.217000	0.65252	2.221000	0.72209	0.455000	0.32223	GAA		0.363	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		12	61	0	0	0	0.001368	0	12	61				
ZFYVE26	23503	broad.mit.edu	37	14	68217815	68217815	+	Splice_Site	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:68217815T>A	ENST00000347230.4	-	41	7510		c.e41-2		RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCCAGCTCCTGTGCAGAACA	0.542																																							uc001xka.2		NA																	1	Unknown(1)		lung(1)	ovary(9)|breast(2)	11						c.e41-1		zinc finger, FYVE domain containing 26							134.0	109.0	117.0					14																	68217815		2203	4300	6503	SO:0001630	splice_region_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68217815T>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7372-2A>T	14.37:g.68217815T>A						ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkb.2_Intron	p.E2458_splice	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	41	7511	-								B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Splice_Site	SNP	ENST00000347230.4	37	c.7372_splice	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513462	0.64522	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3777	0.74625	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE26	67287568	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	5.747000	0.68689	2.232000	0.73038	0.528000	0.53228	.		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	Intron	7	52	0	0	0	0.001984	0	7	52				
FLRT2	23768	broad.mit.edu	37	14	86089577	86089577	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:86089577C>A	ENST00000330753.4	+	2	2486	c.1719C>A	c.(1717-1719)acC>acA	p.T573T	FLRT2_ENST00000554746.1_Silent_p.T573T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	573					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.T573T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCGCTACACCTCCCAGAAGT	0.547																																							uc001xvr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1717-1719)ACC>ACA		fibronectin leucine rich transmembrane protein 2							76.0	82.0	80.0					14																	86089577		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089577C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1719C>A	14.37:g.86089577C>A						FLRT2_uc010atd.2_Silent_p.T573T	p.T573T	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2486	+			573			Cytoplasmic (Potential).		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.1719C>A	CCDS9877.1																																																																																				0.547	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			44	72	1	0	2.37825e-27	0.002522	3.62558e-27	44	72				
SERPINA9	327657	broad.mit.edu	37	14	94935730	94935730	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:94935730C>A	ENST00000380365.3	-	2	526	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Missense_Mutation_p.G70C|SERPINA9_ENST00000424550.2_Missense_Mutation_p.G19C|SERPINA9_ENST00000546329.1_Missense_Mutation_p.G132C|SERPINA9_ENST00000337425.5_Missense_Mutation_p.G168C			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	150					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G168C(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTGACATTGCCCAAGAAATTT	0.498																																							uc001ydf.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(502-504)GGC>TGC		serine (or cysteine) proteinase inhibitor, clade							108.0	108.0	108.0					14																	94935730		1944	4151	6095	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935730C>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.448G>T	14.37:g.94935730C>A	ENSP00000369723:p.Gly150Cys					SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.G19C|SERPINA9_uc001ydg.2_Missense_Mutation_p.G132C|SERPINA9_uc001ydh.1_Missense_Mutation_p.G168C|SERPINA9_uc001ydi.1_Missense_Mutation_p.G132C	p.G168C	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	663	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	150					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.502G>T		.	.	.	.	.	.	.	.	.	.	C	0.038	-1.297796	0.01364	.	.	ENSG00000170054	ENST00000448305;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.97	0.981	0.19756	Serpin domain (3);	0.732952	0.11791	N	0.529197	D	0.88459	0.6442	M	0.64170	1.965	0.09310	N	1	P;P;P;P	0.50943	0.94;0.664;0.617;0.801	P;P;P;B	0.54856	0.753;0.762;0.451;0.181	T	0.78293	-0.2260	10	0.72032	D	0.01	.	7.2	0.25874	0.0:0.6444:0.1302:0.2254	.	132;150;70;168	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	C	70;19;168;150;132	ENSP00000414092:G70C;ENSP00000409012:G19C;ENSP00000337133:G168C;ENSP00000369723:G150C;ENSP00000445476:G132C	ENSP00000337133:G168C	G	-	1	0	SERPINA9	94005483	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.584000	0.02114	0.280000	0.22209	-0.467000	0.05162	GGC		0.498	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		56	74	1	0	8.28887e-21	0.00361	1.21682e-20	56	74				
DYNC1H1	1778	broad.mit.edu	37	14	102472468	102472468	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:102472468A>T	ENST00000360184.4	+	27	5841	c.5677A>T	c.(5677-5679)Aca>Tca	p.T1893S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1893	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T1893S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGACAATGACACAAGCCTT	0.453																																							uc001yks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5677-5679)ACA>TCA		cytoplasmic dynein 1 heavy chain 1							87.0	94.0	91.0					14																	102472468		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472468A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5677A>T	14.37:g.102472468A>T	ENSP00000348965:p.Thr1893Ser						p.T1893S	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			27	5841	+			1893			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5677A>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872693	0.91587	.	.	ENSG00000197102	ENST00000360184	T	0.12569	2.67	6.07	6.07	0.98685	.	0.047617	0.85682	D	0.000000	T	0.31575	0.0801	M	0.85041	2.73	0.80722	D	1	P	0.40431	0.717	P	0.45753	0.492	T	0.08351	-1.0726	10	0.66056	D	0.02	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1893	Q14204	DYHC1_HUMAN	S	1893	ENSP00000348965:T1893S	ENSP00000348965:T1893S	T	+	1	0	DYNC1H1	101542221	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	9.273000	0.95719	2.326000	0.78906	0.533000	0.62120	ACA		0.453	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	42	0	0	0	0.003214	0	41	42				
RCOR1	23186	broad.mit.edu	37	14	103187709	103187709	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:103187709T>G	ENST00000570597.1	+	10	1175	c.1175T>G	c.(1174-1176)gTa>gGa	p.V392G	RCOR1_ENST00000262241.6_Missense_Mutation_p.V395G			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	392	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|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)	p.V392G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CTTCTCGCCGTACAAGGTAGG	0.448																																							uc001ymb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)GTA>GGA		REST corepressor 1							78.0	72.0	74.0					14																	103187709		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103187709T>G	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1175T>G	14.37:g.103187709T>G	ENSP00000459789:p.Val392Gly						p.V392G	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			10	1175	+			392			SANT 2.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1175T>G		.	.	.	.	.	.	.	.	.	.	T	29.5	5.010019	0.93346	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.17	6.17	0.99709	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83200	-0.0079	9	0.87932	D	0	-19.6627	16.8222	0.85835	0.0:0.0:0.0:1.0	.	392	Q9UKL0	RCOR1_HUMAN	G	392	.	ENSP00000262241:V392G	V	+	2	0	RCOR1	102257462	1.000000	0.71417	0.845000	0.33349	0.865000	0.49528	7.759000	0.85235	2.371000	0.80710	0.533000	0.62120	GTA		0.448	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		11	13	0	0	0	0.000978	0	11	13				
CDC42BPB	9578	broad.mit.edu	37	14	103442278	103442278	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:103442278G>A	ENST00000361246.2	-	10	1617	c.1329C>T	c.(1327-1329)taC>taT	p.Y443Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.Y443Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTCCTCTCGTAAGCTTCCA	0.607																																							uc001ymi.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(1327-1329)TAC>TAT		CDC42-binding protein kinase beta							86.0	86.0	86.0					14																	103442278		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442278G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1329C>T	14.37:g.103442278G>A							p.Y443Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1561	-		Melanoma(154;0.155)	443			Potential.			Silent	SNP	ENST00000361246.2	37	c.1329C>T	CCDS9978.1																																																																																				0.607	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		5	82	0	0	0	0.000602	0	5	82				
AHNAK2	113146	broad.mit.edu	37	14	105405700	105405700	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:105405700T>C	ENST00000333244.5	-	7	16207	c.16088A>G	c.(16087-16089)gAt>gGt	p.D5363G	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D361G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5363						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D333G(1)|p.D5363G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGATGGCATATCAGTACTTGA	0.438																																							uc010axc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16087-16089)GAT>GGT		AHNAK nucleoprotein 2							56.0	58.0	58.0					14																	105405700		1899	4121	6020	SO:0001583	missense	113146					nucleus		g.chr14:105405700T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16088A>G	14.37:g.105405700T>C	ENSP00000353114:p.Asp5363Gly					AHNAK2_uc001ypx.2_Missense_Mutation_p.D5263G	p.D5363G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16208	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5363					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16088A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883848	0.33255	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03330	3.97;5.37	4.77	2.38	0.29361	.	0.925547	0.08815	U	0.889673	T	0.03220	0.0094	L	0.32530	0.975	0.09310	N	1	P	0.42518	0.782	B	0.34652	0.187	T	0.47129	-0.9141	10	0.40728	T	0.16	.	7.3591	0.26735	0.0:0.1756:0.0:0.8244	.	5363	Q8IVF2	AHNK2_HUMAN	G	361;5363	ENSP00000450998:D361G;ENSP00000353114:D5363G	ENSP00000353114:D5363G	D	-	2	0	AHNAK2	104476745	0.033000	0.19621	0.001000	0.08648	0.017000	0.09413	2.050000	0.41297	0.290000	0.22444	0.402000	0.26972	GAT		0.438	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		20	31	0	0	0	0.008871	0	20	31				
AHNAK2	113146	broad.mit.edu	37	14	105418921	105418921	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:105418921T>A	ENST00000333244.5	-	7	2986	c.2867A>T	c.(2866-2868)gAt>gTt	p.D956V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	956						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D956V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTCGCCATCGGGGGCTGT	0.622																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2866-2868)GAT>GTT		AHNAK nucleoprotein 2							149.0	174.0	166.0					14																	105418921		1975	4146	6121	SO:0001583	missense	113146					nucleus		g.chr14:105418921T>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2867A>T	14.37:g.105418921T>A	ENSP00000353114:p.Asp956Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.D856V	p.D956V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2987	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	956					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2867A>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	13.05	2.122326	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.01246	5.11	2.73	1.54	0.23209	.	.	.	.	.	T	0.08313	0.0207	M	0.92833	3.35	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.16630	-1.0396	9	0.40728	T	0.16	.	3.5647	0.07896	0.2004:0.1391:0.0:0.6606	.	956	Q8IVF2	AHNK2_HUMAN	V	956	ENSP00000353114:D956V	ENSP00000353114:D956V	D	-	2	0	AHNAK2	104489966	.	.	0.002000	0.10522	0.001000	0.01503	.	.	1.110000	0.41699	0.260000	0.18958	GAT		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		119	161	0	0	0	0.00361	0	119	161				
GOLGA8CP	729786	broad.mit.edu	37	15	20777882	20777882	+	RNA	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:20777882C>T	ENST00000408427.1	+	0	83				RN7SL759P_ENST00000485130.2_RNA														p.L371F(1)									CTCCAAAGATCTTTGTGAGGT	0.617																																							uc010tzc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1123-1125)CTT>TTT		golgi autoantigen, golgin subfamily a, 8E																																						729786							g.chr15:20777882C>T																													15.37:g.20777882C>T						uc001ytq.2_5'Flank	p.L375F	NM_001012423	NP_001012423					18	2138	+									Missense_Mutation	SNP	ENST00000408427.1	37	c.1123C>T																																																																																					0.617	AC131280.1-201	NOVEL	basic	miRNA	miRNA				7	132	0	0	0	0.004482	0	7	132				
OR4M2	390538	broad.mit.edu	37	15	22368867	22368867	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:22368867A>T	ENST00000332663.2	+	1	390	c.292A>T	c.(292-294)Att>Ttt	p.I98F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I98F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGATGGATGCATTGCACAGCT	0.458																																							uc010tzu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)ATT>TTT		olfactory receptor, family 4, subfamily M,							325.0	272.0	290.0					15																	22368867		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368867A>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.292A>T	15.37:g.22368867A>T	ENSP00000329467:p.Ile98Phe					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.I98F	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	292	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	98			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.292A>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.37	2.217543	0.39201	.	.	ENSG00000182974	ENST00000332663	T	0.00502	6.95	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00695	0.0023	L	0.28608	0.87	0.35649	D	0.811618	D	0.67145	0.996	P	0.61477	0.889	T	0.77183	-0.2681	10	0.54805	T	0.06	-13.1688	8.5824	0.33637	1.0:0.0:0.0:0.0	.	98	Q8NGB6	OR4M2_HUMAN	F	98	ENSP00000329467:I98F	ENSP00000329467:I98F	I	+	1	0	OR4M2	19870231	0.014000	0.17966	0.997000	0.53966	0.772000	0.43724	0.285000	0.18883	1.167000	0.42706	0.368000	0.22195	ATT		0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			56	807	0	0	0	0.00361	0	56	807				
OR4N3P	390539	broad.mit.edu	37	15	22413947	22413947	+	IGR	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:22413947C>A								RP11-69H14.6 (30139 upstream) : RP11-2F9.4 (19942 downstream)																							AGGTGGTCCTCATCATCCGCT	0.507																																							uc001yuf.2		NA																	0					0						c.(244-246)CTC>CTA		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22413947C>A																													15.37:g.22413947C>A							p.L82L	NM_001080841	NP_001074310					1	246	+									Silent	SNP		37	c.246C>A																																																																																				0	0.507									15	442	1	0	3.41278e-10	0.00499	4.3255e-10	15	442				
MKRN3	7681	broad.mit.edu	37	15	23812450	23812450	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:23812450G>T	ENST00000314520.3	+	1	1997	c.1521G>T	c.(1519-1521)ctG>ctT	p.L507L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	507					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L507L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATTTGATTCTGTAGCATCGTG	0.458																																							uc001ywh.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(1519-1521)CTG>CTT		makorin ring finger protein 3							94.0	91.0	92.0					15																	23812450		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812450G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1521G>T	15.37:g.23812450G>T						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	p.L507L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1997	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	507						Silent	SNP	ENST00000314520.3	37	c.1521G>T	CCDS10013.1																																																																																				0.458	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		33	81	1	0	5.8336e-16	0.003271	8.1783e-16	33	81				
RYR3	6263	broad.mit.edu	37	15	34023715	34023715	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:34023715G>T	ENST00000389232.4	+	48	7314	c.7244G>T	c.(7243-7245)aGg>aTg	p.R2415M	RYR3_ENST00000415757.3_Missense_Mutation_p.R2415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2415	4 X approximate repeats.				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)	p.R2415M(1)		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)		GCACTAAATAGGTATATATGT	0.502																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7243-7245)AGG>ATG		ryanodine receptor 3							61.0	57.0	58.0					15																	34023715		1992	4170	6162	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34023715G>T		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.7244G>T	15.37:g.34023715G>T	ENSP00000373884:p.Arg2415Met					RYR3_uc010bar.2_Missense_Mutation_p.R2415M	p.R2415M	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)	48	7314	+		all_lung(180;7.18e-09)	2415			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7244G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745785	0.89663	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91740	-2.9;-2.9	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.96577	0.8883	M	0.85462	2.755	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96761	0.9561	10	0.87932	D	0	.	19.3333	0.94303	0.0:0.0:1.0:0.0	.	2415;2415	Q15413-2;Q15413	.;RYR3_HUMAN	M	2415	ENSP00000373884:R2415M;ENSP00000399610:R2415M	ENSP00000354735:R2415M	R	+	2	0	RYR3	31811007	1.000000	0.71417	0.552000	0.28243	0.919000	0.55068	9.601000	0.98297	2.793000	0.96121	0.655000	0.94253	AGG		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	12	1	0	0.00024832	0.009096	0.000272714	4	12				
GPR176	11245	broad.mit.edu	37	15	40093898	40093898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:40093898C>A	ENST00000561100.1	-	3	1848	c.983G>T	c.(982-984)cGc>cTc	p.R328L	GPR176_ENST00000299092.3_Missense_Mutation_p.R327L|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.R283L	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	328					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R328L(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGCACTTGCGGACAGATTT	0.552											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zkj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(982-984)CGC>CTC		G protein-coupled receptor 176							79.0	72.0	74.0					15																	40093898		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093898C>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.983G>T	15.37:g.40093898C>A	ENSP00000453076:p.Arg328Leu		OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_uc010uck.1_Missense_Mutation_p.R268L	p.R328L	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	1849	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	328			Cytoplasmic (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.983G>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909579	0.92107	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.57595	0.39	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70710	-0.4797	10	0.87932	D	0	-23.1617	20.6634	0.99662	0.0:1.0:0.0:0.0	.	328	Q14439	GP176_HUMAN	L	328;283	ENSP00000439361:R283L	ENSP00000299092:R328L	R	-	2	0	GPR176	37881190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.894000	0.99253	0.655000	0.94253	CGC		0.552	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		14	29	1	0	9.05144e-12	0.001855	1.18157e-11	14	29				
MGA	23269	broad.mit.edu	37	15	41988781	41988781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:41988781G>T	ENST00000570161.1	+	2	1573	c.1573G>T	c.(1573-1575)Gaa>Taa	p.E525*	MGA_ENST00000545763.1_Nonsense_Mutation_p.E525*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E525*|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000566586.1_Nonsense_Mutation_p.E525*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E525*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)	p.E525*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTAGGCAAGGAATCAGAAAA	0.373																																							uc001zog.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(1573-1575)GAA>TAA		MAX-interacting protein isoform 2							71.0	64.0	66.0					15																	41988781		1843	4096	5939	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41988781G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1573G>T	15.37:g.41988781G>T	ENSP00000457035:p.Glu525*					MGA_uc010ucy.1_Nonsense_Mutation_p.E525*|MGA_uc010ucz.1_Nonsense_Mutation_p.E525*	p.E525*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1664	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	525					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.1573G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334106	0.81801	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.54	4.62	0.57501	.	0.746893	0.12643	N	0.451102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.7277	0.18022	0.1674:0.0:0.6659:0.1667	.	.	.	.	X	525	.	ENSP00000219905:E525X	E	+	1	0	MGA	39776073	0.953000	0.32496	1.000000	0.80357	0.992000	0.81027	1.506000	0.35747	2.607000	0.88179	0.462000	0.41574	GAA		0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	29	1	0	0.00448238	0.004482	0.00479	9	29				
FRMD5	84978	broad.mit.edu	37	15	44198064	44198064	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:44198064C>T	ENST00000417257.1	-	6	689	c.513G>A	c.(511-513)ctG>ctA	p.L171L	FRMD5_ENST00000402883.1_Silent_p.L171L|FRMD5_ENST00000484674.1_Silent_p.L82L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.L171L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTTCCTTTCCAGCTTCTCTG	0.488																																							uc001ztl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(511-513)CTG>CTA		FERM domain containing 5 isoform 2							154.0	145.0	148.0					15																	44198064		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44198064C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.513G>A	15.37:g.44198064C>T						FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.L82L|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	p.L171L	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	6	690	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	171			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.513G>A	CCDS10107.2																																																																																				0.488	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		21	50	0	0	0	0.00278	0	21	50				
CEP152	22995	broad.mit.edu	37	15	49085535	49085535	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:49085535T>C	ENST00000380950.2	-	7	1002	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	CEP152_ENST00000399334.3_Missense_Mutation_p.Q272R|CEP152_ENST00000325747.5_Missense_Mutation_p.Q179R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	272					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.Q272R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TATTACAAGCTGGTGATTCAG	0.338																																							uc001zwy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(814-816)CAG>CGG		centrosomal protein 152kDa							148.0	140.0	143.0					15																	49085535		1858	4100	5958	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49085535T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.815A>G	15.37:g.49085535T>C	ENSP00000370337:p.Gln272Arg					CEP152_uc001zwz.2_Missense_Mutation_p.Q272R|CEP152_uc001zxa.1_Missense_Mutation_p.Q179R	p.Q272R	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	7	849	-		all_lung(180;0.0428)	272			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.815A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026584	0.75390	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.82433	-1.61;-1.61;-1.61	5.75	5.75	0.90469	.	0.053548	0.85682	D	0.000000	D	0.91074	0.7191	M	0.77103	2.36	0.48040	D	0.999578	D;D;D	0.89917	0.992;1.0;0.998	D;D;D	0.87578	0.979;0.998;0.994	D	0.92047	0.5645	10	0.72032	D	0.01	-12.8094	16.0555	0.80801	0.0:0.0:0.0:1.0	.	179;272;272	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	272;179;272;272	ENSP00000370337:Q272R;ENSP00000321000:Q179R;ENSP00000382271:Q272R	ENSP00000321000:Q179R	Q	-	2	0	CEP152	46872827	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.158000	0.71851	2.185000	0.69588	0.459000	0.35465	CAG		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		9	35	0	0	0	0.008291	0	9	35				
RFX7	64864	broad.mit.edu	37	15	56390279	56390279	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:56390279C>A	ENST00000559447.2	-	8	1087	c.816G>T	c.(814-816)ccG>ccT	p.P272P	RFX7_ENST00000422057.1_Splice_Site_p.P272P|RFX7_ENST00000423270.1_Splice_Site_p.P369P|RFX7_ENST00000317318.6_Splice_Site_p.P369P			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	272					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P369P(1)|p.P272P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTATATTACCGGAATGGGAC	0.403																																							uc010bfn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1105-1107)CCG>CCT		regulatory factor X domain containing 2							59.0	57.0	57.0					15																	56390279		1835	4077	5912	SO:0001630	splice_region_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56390279C>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.816+1G>T	15.37:g.56390279C>A						RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.P183P	p.P369P	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			8	1107	-			272					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.1107G>T																																																																																					0.403	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	Silent	8	29	1	0	2.17888e-05	0.006214	2.45476e-05	8	29				
ZWILCH	55055	broad.mit.edu	37	15	66832443	66832443	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:66832443C>T	ENST00000307897.5	+	17	1962	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	ZWILCH_ENST00000446801.2_Missense_Mutation_p.P414S|ZWILCH_ENST00000565627.1_Missense_Mutation_p.P414S|ZWILCH_ENST00000535141.2_Missense_Mutation_p.P414S	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	528					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.P528S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TAGTGAGAAGCCACAGAAATG	0.368																																							uc002aqb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1582-1584)CCA>TCA		Zwilch							79.0	80.0	80.0					15																	66832443		2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66832443C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1582C>T	15.37:g.66832443C>T	ENSP00000311429:p.Pro528Ser					ZWILCH_uc010bhu.1_Missense_Mutation_p.P414S|ZWILCH_uc002aqa.2_Missense_Mutation_p.P414S|ZWILCH_uc010bhv.2_Missense_Mutation_p.P414S	p.P528S	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			17	1828	+			528					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.1582C>T	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373738	0.82573	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	D;D;D	0.83914	-1.78;-1.78;-1.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.68952	2.095	0.58432	D	0.999999	D	0.76494	0.999	D	0.65443	0.935	D	0.90167	0.4232	10	0.87932	D	0	-8.5367	16.7175	0.85400	0.0:1.0:0.0:0.0	.	528	Q9H900	ZWILC_HUMAN	S	528;414;414	ENSP00000311429:P528S;ENSP00000402217:P414S;ENSP00000437749:P414S	ENSP00000311429:P528S	P	+	1	0	ZWILCH	64619497	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.875000	0.56108	2.822000	0.97130	0.650000	0.86243	CCA		0.368	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		8	22	0	0	0	0.00308	0	8	22				
SMAD3	4088	broad.mit.edu	37	15	67473647	67473647	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:67473647C>T	ENST00000327367.4	+	6	1037	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	SMAD3_ENST00000439724.3_Missense_Mutation_p.R199C|SMAD3_ENST00000537194.2_Missense_Mutation_p.R48C|SMAD3_ENST00000540846.2_Missense_Mutation_p.R138C	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	243	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R199C(1)|p.R243C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCTGAACCAGCGCGTCGGGGA	0.607																																							uc002aqj.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(727-729)CGC>TGC		mothers against decapentaplegic homolog 3							78.0	62.0	67.0					15																	67473647		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473647C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.727C>T	15.37:g.67473647C>T	ENSP00000332973:p.Arg243Cys					SMAD3_uc010ujr.1_Missense_Mutation_p.R138C|SMAD3_uc010ujs.1_Missense_Mutation_p.R199C|SMAD3_uc010ujt.1_Missense_Mutation_p.R48C	p.R243C	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1025	+			243			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.727C>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318161	0.81469	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.1	4.12	0.48240	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98710	1.0704	10	0.87932	D	0	.	15.7476	0.77958	0.1964:0.8036:0.0:0.0	.	199;243	B7Z4Z5;P84022	.;SMAD3_HUMAN	C	243;243;138;199;48	ENSP00000332973:R243C;ENSP00000437757:R138C;ENSP00000401133:R199C;ENSP00000445348:R48C	ENSP00000332973:R243C	R	+	1	0	SMAD3	65260701	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.525000	0.45598	2.515000	0.84797	0.555000	0.69702	CGC		0.607	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		4	20	0	0	0	0.009096	0	4	20				
TLE3	7090	broad.mit.edu	37	15	70345643	70345643	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:70345643C>A	ENST00000558939.1	-	17	3283	c.1906G>T	c.(1906-1908)Ggg>Tgg	p.G636W	TLE3_ENST00000539550.1_Missense_Mutation_p.G563W|TLE3_ENST00000560939.1_Missense_Mutation_p.G638W|TLE3_ENST00000559929.1_Missense_Mutation_p.G646W|TLE3_ENST00000317509.8_Missense_Mutation_p.G624W|TLE3_ENST00000440567.3_Missense_Mutation_p.G626W|TLE3_ENST00000557907.1_Missense_Mutation_p.G628W|TLE3_ENST00000451782.2_Missense_Mutation_p.G633W|TLE3_ENST00000560589.1_Missense_Mutation_p.G580W|TLE3_ENST00000558379.1_Missense_Mutation_p.G631W|TLE3_ENST00000558201.1_Missense_Mutation_p.G642W|TLE3_ENST00000442299.2_Missense_Mutation_p.G628W|TLE3_ENST00000559191.1_Missense_Mutation_p.G217W|TLE3_ENST00000557997.1_Missense_Mutation_p.G628W|TLE3_ENST00000559048.1_Missense_Mutation_p.G636W	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	636					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G636L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCAGGCCCCCTGTCCACAGT	0.627																																							uc002asm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1906-1908)GGG>TGG		transducin-like enhancer protein 3 isoform a							66.0	70.0	69.0					15																	70345643		2134	4267	6401	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70345643C>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1906G>T	15.37:g.70345643C>A	ENSP00000452871:p.Gly636Trp					TLE3_uc002ask.2_Missense_Mutation_p.G563W|TLE3_uc002asl.2_Missense_Mutation_p.G636W|TLE3_uc010ukd.1_Missense_Mutation_p.G626W|TLE3_uc010bik.1_Missense_Mutation_p.G217W|TLE3_uc010bil.1_Missense_Mutation_p.G633W|TLE3_uc002asn.2_Missense_Mutation_p.G624W|TLE3_uc002asp.2_Missense_Mutation_p.G628W|TLE3_uc002aso.2_Missense_Mutation_p.G631W	p.G636W	NM_005078	NP_005069	Q04726	TLE3_HUMAN			17	3025	-			636			WD 4.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1906G>T	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705920	0.89018	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.92668	0.6147	10	0.87932	D	0	-3.3941	18.137	0.89622	0.0:1.0:0.0:0.0	.	626;633;628;631;624;636;636;563	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	W	628;633;636;626;563	ENSP00000390007:G628W;ENSP00000394717:G633W;ENSP00000415057:G626W;ENSP00000442594:G563W	ENSP00000319233:G636W	G	-	1	0	TLE3	68132697	1.000000	0.71417	0.761000	0.31378	0.981000	0.71138	7.556000	0.82233	2.615000	0.88500	0.561000	0.74099	GGG		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		4	8	1	0	0.00909568	0.009096	0.00956747	4	8				
UACA	55075	broad.mit.edu	37	15	70961608	70961608	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:70961608G>A	ENST00000322954.6	-	16	1600	c.1415C>T	c.(1414-1416)gCa>gTa	p.A472V	UACA_ENST00000539319.1_Missense_Mutation_p.A363V|UACA_ENST00000379983.2_Missense_Mutation_p.A459V|UACA_ENST00000560441.1_Missense_Mutation_p.A457V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	472					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.A459V(1)|p.A472V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTGCATTCTGCCACTTTGTG	0.383																																							uc002asr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1414-1416)GCA>GTA		uveal autoantigen with coiled-coil domains and							164.0	157.0	160.0					15																	70961608		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70961608G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1415C>T	15.37:g.70961608G>A	ENSP00000314556:p.Ala472Val					UACA_uc010uke.1_Missense_Mutation_p.A363V|UACA_uc002asq.2_Missense_Mutation_p.A459V|UACA_uc010bin.1_Missense_Mutation_p.A447V	p.A472V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	1519	-			472			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1415C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324376	0.60634	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.36157	1.27;1.28;1.76	5.68	5.68	0.88126	.	0.105878	0.42053	D	0.000773	T	0.54127	0.1839	L	0.60455	1.87	0.29616	N	0.846579	D;P;P;D	0.58970	0.984;0.947;0.947;0.968	P;P;P;P	0.57324	0.818;0.663;0.663;0.818	T	0.52495	-0.8568	10	0.54805	T	0.06	-16.1506	19.7842	0.96430	0.0:0.0:1.0:0.0	.	363;472;472;459	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	472;459;448;363	ENSP00000314556:A472V;ENSP00000369319:A459V;ENSP00000438667:A363V	ENSP00000314556:A472V	A	-	2	0	UACA	68748662	0.392000	0.25229	0.961000	0.40146	0.245000	0.25701	3.184000	0.50926	2.676000	0.91093	0.591000	0.81541	GCA		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			70	115	0	0	0	0.00361	0	70	115				
UBE2Q2	92912	broad.mit.edu	37	15	76168613	76168613	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:76168613G>A	ENST00000267938.4	+	6	1055		c.e6+1		UBE2Q2_ENST00000338677.4_Splice_Site|UBE2Q2_ENST00000561851.1_Splice_Site|UBE2Q2_ENST00000569423.1_Splice_Site	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TATAAAACAGGTAAGGATCTC	0.388																																							uc002bbg.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e6+1		ubiquitin-conjugating enzyme E2Q 2 isoform 1							121.0	128.0	126.0					15																	76168613		2197	4294	6491	SO:0001630	splice_region_variant	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76168613G>A	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.673+1G>A	15.37:g.76168613G>A						UBE2Q2_uc002bbh.2_Splice_Site_p.G190_splice|UBE2Q2_uc010umn.1_Splice_Site_p.G209_splice|UBE2Q2_uc002bbi.2_Splice_Site_p.G106_splice	p.G225_splice	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN			6	1059	+								B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Splice_Site	SNP	ENST00000267938.4	37	c.673_splice	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512003	0.85389	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6423	0.88140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2Q2	73955668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.489000	0.97949	2.470000	0.83445	0.637000	0.83480	.		0.388	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	Intron	70	116	0	0	0	0.00361	0	70	116				
LOC645752	645752	broad.mit.edu	37	15	78211609	78211609	+	lincRNA	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:78211609T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							ATCTTGTAGCTGTTCCACCAC	0.567																																							uc010bky.2		NA																	0					0						c.(157-159)CAG>CGG		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78211609T>C																													15.37:g.78211609T>C							p.Q53R	NR_027024						11	922	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.158A>G																																																																																					0.567	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			13	132	0	0	0	0.001855	0	13	132				
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGACGCTGCCGTTGGACCGG	0.572																																							uc002bed.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(415-417)GGC>AGC		cholinergic receptor, nicotinic, beta 4							41.0	44.0	43.0					15																	78922232		2196	4292	6488	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922232C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.415G>A	15.37:g.78922232C>T	ENSP00000261751:p.Gly139Ser					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.G139S	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	527	-			139			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.415G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783372	0.70222	.	.	ENSG00000117971	ENST00000261751	D	0.97352	-4.35	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99636	1.0987	10	0.72032	D	0.01	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	139	P30926	ACHB4_HUMAN	S	139	ENSP00000261751:G139S	ENSP00000261751:G139S	G	-	1	0	CHRNB4	76709287	1.000000	0.71417	0.956000	0.39512	0.065000	0.16274	7.766000	0.85320	2.301000	0.77427	0.655000	0.94253	GGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			3	51	0	0	0	0.004672	0	3	51				
AP3B2	8120	broad.mit.edu	37	15	83349905	83349905	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:83349905G>C	ENST00000261722.3	-	6	754	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	AP3B2_ENST00000535359.1_Missense_Mutation_p.L183V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.L151V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	183					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L183V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTCTATCAGCTGATCCTTC	0.572																																							uc010uoh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(547-549)CTG>GTG		adaptor-related protein complex 3, beta 2							36.0	37.0	36.0					15																	83349905		2004	4168	6172	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349905G>C	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.547C>G	15.37:g.83349905G>C	ENSP00000261722:p.Leu183Val					AP3B2_uc010uoi.1_Missense_Mutation_p.L183V|AP3B2_uc010uoj.1_Missense_Mutation_p.L151V|AP3B2_uc010uog.1_5'Flank	p.L183V	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		6	724	-			183					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.547C>G	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501660	0.85176	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.62	3.73	0.42828	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.077902	0.53938	D	0.000051	T	0.57799	0.2078	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.80764	0.994;0.971;0.971	T	0.61691	-0.7011	10	0.62326	D	0.03	-13.5079	10.8402	0.46710	0.205:0.0:0.795:0.0	.	151;183;183	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	183;151;183;139	ENSP00000261722:L183V;ENSP00000438721:L151V;ENSP00000440984:L183V;ENSP00000441961:L139V	ENSP00000261722:L183V	L	-	1	2	AP3B2	81146959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.496000	0.53288	1.369000	0.46134	0.563000	0.77884	CTG		0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	17	0	0	0	0.009096	0	4	17				
NTRK3	4916	broad.mit.edu	37	15	88576157	88576157	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:88576157T>C	ENST00000360948.2	-	13	1677	c.1516A>G	c.(1516-1518)Act>Gct	p.T506A	NTRK3_ENST00000542733.2_Missense_Mutation_p.T408A|NTRK3_ENST00000394480.2_Missense_Mutation_p.T506A|NTRK3_ENST00000357724.2_Missense_Mutation_p.T498A|NTRK3_ENST00000540489.2_Missense_Mutation_p.T506A|NTRK3_ENST00000355254.2_Missense_Mutation_p.T506A|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000317501.3_Missense_Mutation_p.T506A|NTRK3_ENST00000557856.1_Missense_Mutation_p.T498A|NTRK3_ENST00000558676.1_Missense_Mutation_p.T498A	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	506					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T506A(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGATGCGAGTCATGCCAATG	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1516-1518)ACT>GCT		neurotrophic tyrosine kinase, receptor, type 3							112.0	77.0	89.0					15																	88576157		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576157T>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1516A>G	15.37:g.88576157T>C	ENSP00000354207:p.Thr506Ala	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.T498A|NTRK3_uc002bmf.1_Missense_Mutation_p.T506A|NTRK3_uc010upl.1_Missense_Mutation_p.T408A|NTRK3_uc010bnh.1_Missense_Mutation_p.T498A|NTRK3_uc002bmg.2_Missense_Mutation_p.T506A|NTRK3_uc010bni.2_RNA	p.T506A	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1678	-			506			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1516A>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236271	0.79800	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74002	-0.8;-0.75;-0.72;-0.8;-0.67;-0.18;-0.18	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	M	0.62723	1.935	0.58432	D	0.999999	P;P;D;D;P;D	0.57257	0.702;0.702;0.978;0.979;0.802;0.978	B;B;P;P;B;P	0.54174	0.182;0.182;0.744;0.556;0.337;0.744	T	0.82481	-0.0436	10	0.72032	D	0.01	.	13.9137	0.63883	0.0:0.0:0.0:1.0	.	408;498;498;506;506;506	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	A	506;506;498;506;408;2;506;506	ENSP00000377990:T506A;ENSP00000354207:T506A;ENSP00000350356:T498A;ENSP00000347397:T506A;ENSP00000437773:T408A;ENSP00000444673:T506A;ENSP00000318328:T506A	ENSP00000318328:T506A	T	-	1	0	NTRK3	86377161	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	5.719000	0.68462	2.061000	0.61500	0.528000	0.53228	ACT		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				4	27	0	0	0	0.009096	0	4	27				
ACAN	176	broad.mit.edu	37	15	89414627	89414627	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:89414627G>A	ENST00000561243.1	+	13	6961	c.6961G>A	c.(6961-6963)Gag>Aag	p.E2321K	ACAN_ENST00000559004.1_Missense_Mutation_p.E2283K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2283K|ACAN_ENST00000439576.2_Missense_Mutation_p.E2321K			P16112	PGCA_HUMAN	aggrecan	2206	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.E2207K(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGGTATGTGAGGAGGGCTG	0.622																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(6961-6963)GAG>AAG		aggrecan isoform 2 precursor							50.0	60.0	57.0					15																	89414627		2084	4204	6288	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89414627G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6961G>A	15.37:g.89414627G>A	ENSP00000453342:p.Glu2321Lys					ACAN_uc010upp.1_Missense_Mutation_p.E2283K|ACAN_uc002bna.2_RNA	p.E2321K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		14	7335	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2321					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6961G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325611	0.81580	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.17691	2.26;2.26	5.59	4.65	0.58169	.	0.000000	0.33040	N	0.005344	T	0.26268	0.0641	N	0.20401	0.57	0.27700	N	0.945815	D;D	0.69078	0.997;0.997	D;D	0.76575	0.988;0.983	T	0.14227	-1.0480	10	0.30854	T	0.27	-12.2684	15.3446	0.74327	0.0:0.1401:0.8599:0.0	.	2283;2321	E7ENV9;E7EX88	.;.	K	2321;2283;2207	ENSP00000387356:E2321K;ENSP00000341615:E2283K	ENSP00000268134:E2207K	E	+	1	0	ACAN	87215631	1.000000	0.71417	0.975000	0.42487	0.920000	0.55202	4.396000	0.59684	1.304000	0.44892	0.655000	0.94253	GAG		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	31	0	0	0	0.00308	0	8	31				
POLG	5428	broad.mit.edu	37	15	89865046	89865046	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:89865046A>G	ENST00000268124.5	-	16	2852	c.2519T>C	c.(2518-2520)aTc>aCc	p.I840T	POLG_ENST00000442287.2_Missense_Mutation_p.I840T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	840					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.I840T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGGGGCAGGATGGCCCCATA	0.617								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2518-2520)ATC>ACC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							59.0	60.0	60.0					15																	89865046		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89865046A>G	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2519T>C	15.37:g.89865046A>G	ENSP00000268124:p.Ile840Thr					POLG_uc002bnr.3_Missense_Mutation_p.I840T	p.I840T	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		16	2801	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		840					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2519T>C	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743051	0.89663	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98044	-4.68;-4.68	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.045766	0.85682	D	0.000000	D	0.98931	0.9637	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	-15.267	15.3625	0.74492	1.0:0.0:0.0:0.0	.	840	P54098	DPOG1_HUMAN	T	840	ENSP00000268124:I840T;ENSP00000399851:I840T	ENSP00000268124:I840T	I	-	2	0	POLG	87666050	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.927000	0.92846	2.045000	0.60652	0.459000	0.35465	ATC		0.617	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		11	54	0	0	0	0.000978	0	11	54				
SYNM	23336	broad.mit.edu	37	15	99672530	99672530	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:99672530A>T	ENST00000336292.6	+	5	4082	c.3962A>T	c.(3961-3963)cAg>cTg	p.Q1321L	SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1322	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.Q1321L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CAGACCACCCAGCAGATAGTT	0.562																																					Pancreas(125;1071 1762 21750 40003 40381)	Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3964-3966)CAG>CTG		desmuslin isoform A							117.0	122.0	120.0					15																	99672530		2072	4216	6288	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672530A>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3962A>T	15.37:g.99672530A>T	ENSP00000336775:p.Gln1321Leu					SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.Q1322L	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	4085	+			1322			Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3965A>T		.	.	.	.	.	.	.	.	.	.	A	14.32	2.499079	0.44455	.	.	ENSG00000182253	ENST00000336292	D	0.82526	-1.62	5.06	3.94	0.45596	.	.	.	.	.	T	0.76842	0.4044	.	.	.	0.30994	N	0.721137	B	0.22604	0.072	B	0.20767	0.031	T	0.74377	-0.3685	8	0.87932	D	0	.	9.6353	0.39804	0.9177:0.0:0.0823:0.0	.	1322	O15061	SYNEM_HUMAN	L	1321	ENSP00000336775:Q1321L	ENSP00000336775:Q1321L	Q	+	2	0	SYNM	97490053	0.130000	0.22417	0.093000	0.20910	0.172000	0.22775	3.227000	0.51262	0.778000	0.33520	0.533000	0.62120	CAG		0.562	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		26	107	0	0	0	0.004656	0	26	107				
LYSMD4	145748	broad.mit.edu	37	15	100269825	100269825	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:100269825C>T	ENST00000409796.1	-	3	456	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	LYSMD4_ENST00000545021.1_Missense_Mutation_p.E6K|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E133K|LYSMD4_ENST00000332728.4_Missense_Mutation_p.E132K|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	132						integral component of membrane (GO:0016021)		p.E133K(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GGTTTCAGTTCTTTGTGGGTC	0.522																																							uc002bvk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GAA>AAA		SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;							81.0	78.0	79.0					15																	100269825		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269825C>T	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.394G>A	15.37:g.100269825C>T	ENSP00000386283:p.Glu132Lys					LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.E133K|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Missense_Mutation_p.E132K	p.E132K			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		3	457	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		132			Extracellular (Potential).		A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.394G>A		.	.	.	.	.	.	.	.	.	.	C	19.64	3.864751	0.71949	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.83	4.83	0.62350	.	0.163209	0.53938	D	0.000059	T	0.46718	0.1407	M	0.81239	2.535	0.32516	N	0.536952	D;D	0.71674	0.998;0.993	D;D	0.68353	0.957;0.91	T	0.55095	-0.8194	10	0.16420	T	0.52	-6.9586	18.3024	0.90168	0.0:1.0:0.0:0.0	.	133;132	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	K	132;133;132;6	ENSP00000386283:E132K;ENSP00000342840:E133K;ENSP00000333008:E132K;ENSP00000445357:E6K	ENSP00000333008:E132K	E	-	1	0	LYSMD4	98087348	0.995000	0.38212	0.977000	0.42913	0.621000	0.37620	4.109000	0.57824	2.383000	0.81215	0.655000	0.94253	GAA		0.522	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		17	100	0	0	0	0.007413	0	17	100				
EME2	197342	broad.mit.edu	37	16	1825092	1825092	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:1825092C>T	ENST00000568449.1	+	4	549	c.528C>T	c.(526-528)gcC>gcT	p.A176A	EME2_ENST00000307394.7_Silent_p.A176A|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	176					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.A210A(1)|p.A176A(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						AGACCACCGCCCGGCCCCACC	0.647								Direct reversal of damage;Homologous recombination																															uc002cmq.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(526-528)GCC>GCT	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 2							75.0	85.0	81.0					16																	1825092		2199	4299	6498	SO:0001819	synonymous_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825092C>T	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.528C>T	16.37:g.1825092C>T						MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.A176A	p.A176A	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN			4	528	+			176					Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	c.528C>T	CCDS58404.1																																																																																				0.647	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		15	136	0	0	0	0.004007	0	15	136				
CLDN9	9080	broad.mit.edu	37	16	3063924	3063924	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:3063924G>A	ENST00000445369.2	+	1	1468	c.561G>A	c.(559-561)ccG>ccA	p.P187P		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	187					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.P187P(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CGTGCCCCCCGCCCCAGGTCG	0.721																																							uc010uwo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)CCG>CCA		claudin 9							21.0	27.0	25.0					16																	3063924		2108	4140	6248	SO:0001819	synonymous_variant	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063924G>A	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.561G>A	16.37:g.3063924G>A							p.P187P	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1468	+			187			Cytoplasmic (Potential).			Silent	SNP	ENST00000445369.2	37	c.561G>A	CCDS10487.1																																																																																				0.721	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		45	41	0	0	0	0.00361	0	45	41				
TIGD7	91151	broad.mit.edu	37	16	3349677	3349677	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:3349677C>T	ENST00000396862.1	-	2	2766	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	TIGD7_ENST00000268674.2_Missense_Mutation_p.R313Q|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	313	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R313Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ACATTTTATTCGACCATCCTC	0.443																																							uc002cus.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CGA>CAA		tigger transposable element derived 7							51.0	51.0	51.0					16																	3349677		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349677C>T	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.938G>A	16.37:g.3349677C>T	ENSP00000380071:p.Arg313Gln					ZNF263_uc002cur.2_3'UTR	p.R313Q	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			1	1724	-			313			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.938G>A	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388450	0.42308	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.40476	1.03;1.03	5.01	4.03	0.46877	.	0.000000	0.35739	U	0.003016	T	0.40423	0.1116	L	0.28458	0.855	0.24018	N	0.996152	D	0.67145	0.996	P	0.56865	0.808	T	0.21280	-1.0250	10	0.10377	T	0.69	.	11.229	0.48901	0.0:0.8144:0.1856:0.0	.	313	Q6NT04	TIGD7_HUMAN	Q	313	ENSP00000380071:R313Q;ENSP00000268674:R313Q	ENSP00000268674:R313Q	R	-	2	0	TIGD7	3289678	0.030000	0.19436	0.998000	0.56505	0.993000	0.82548	-0.063000	0.11655	1.067000	0.40740	0.655000	0.94253	CGA		0.443	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		9	66	0	0	0	0.004482	0	9	66				
TFAP4	7023	broad.mit.edu	37	16	4310143	4310143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:4310143G>T	ENST00000204517.6	-	6	1098	c.770C>A	c.(769-771)tCg>tAg	p.S257*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	257					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.S257*(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTTGATGACCGAGGAGGGGCC	0.627																																							uc010uxg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(769-771)TCG>TAG		transcription factor AP-4 (activating enhancer							114.0	104.0	107.0					16																	4310143		2197	4300	6497	SO:0001587	stop_gained	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310143G>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.770C>A	16.37:g.4310143G>T	ENSP00000204517:p.Ser257*						p.S257*	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			6	1024	-			257					O60409	Nonsense_Mutation	SNP	ENST00000204517.6	37	c.770C>A	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	37	6.562206	0.97667	.	.	ENSG00000090447	ENST00000204517	.	.	.	4.79	3.84	0.44239	.	0.178195	0.37715	N	0.001967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7466	0.57285	0.0802:0.0:0.9198:0.0	.	.	.	.	X	257	.	ENSP00000204517:S257X	S	-	2	0	TFAP4	4250144	1.000000	0.71417	0.914000	0.36105	0.706000	0.40770	7.228000	0.78079	1.232000	0.43678	-0.251000	0.11542	TCG		0.627	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		83	67	1	0	3.7744e-50	0.00361	6.07246e-50	83	67				
GRIN2A	2903	broad.mit.edu	37	16	9858360	9858360	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:9858360C>A	ENST00000396573.2	-	14	3350	c.3041G>T	c.(3040-3042)tGg>tTg	p.W1014L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.W1014L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.W1014L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.W857L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.W1014L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.W1014L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1014					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.W1014L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGATTTCTTCCACAGCTGCCG	0.532																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3040-3042)TGG>TTG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						92.0	97.0	95.0					16																	9858360		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858360C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3041G>T	16.37:g.9858360C>A	ENSP00000379818:p.Trp1014Leu					GRIN2A_uc010uym.1_Missense_Mutation_p.W1014L|GRIN2A_uc010uyn.1_Missense_Mutation_p.W857L|GRIN2A_uc002czr.3_Missense_Mutation_p.W1014L	p.W1014L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3589	-			1014			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3041G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081265	0.55753	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11277	2.79;2.79;2.8;2.79;2.79	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.983;0.987;0.997	P;P;D	0.81914	0.74;0.831;0.995	T	0.00664	-1.1620	9	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	857;1014;1014	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	1014;1014;857;1014;1014	ENSP00000379818:W1014L;ENSP00000385872:W1014L;ENSP00000441572:W857L;ENSP00000332549:W1014L;ENSP00000379820:W1014L	.	W	-	2	0	GRIN2A	9765861	1.000000	0.71417	0.997000	0.53966	0.607000	0.37147	7.376000	0.79658	2.491000	0.84063	0.655000	0.94253	TGG		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	115	1	0	1.024e-07	0.000602	1.22655e-07	5	115				
ZP2	7783	broad.mit.edu	37	16	21215360	21215360	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:21215360G>C	ENST00000574002.1	-	10	1445	c.963C>G	c.(961-963)ctC>ctG	p.L321L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.L321L|ZP2_ENST00000574091.1_Silent_p.L321L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	321					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.L321L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTTCGTTTTGAGCAGAGTTT	0.433																																							uc002dii.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(961-963)CTC>CTG		zona pellucida glycoprotein 2 preproprotein							196.0	168.0	178.0					16																	21215360		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21215360G>C	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.963C>G	16.37:g.21215360G>C						ZP2_uc010bwn.1_Silent_p.L360L|ZP2_uc010bwo.2_Silent_p.L360L	p.L321L	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	9	963	-			321			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.963C>G	CCDS10596.1																																																																																				0.433	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			3	50	0	0	0	0.004672	0	3	50				
AHSP	51327	broad.mit.edu	37	16	31539839	31539839	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:31539839A>G	ENST00000302312.4	+	3	239	c.136A>G	c.(136-138)Aac>Gac	p.N46D	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	46					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)	p.N46D(1)		lung(2)	2						GGACTGGATGAACTTCTACAT	0.547																																							uc002ecj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(136-138)AAC>GAC		erythroid associated factor							80.0	74.0	76.0					16																	31539839		2197	4300	6497	SO:0001583	missense	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539839A>G	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.136A>G	16.37:g.31539839A>G	ENSP00000307199:p.Asn46Asp						p.N46D	NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN			3	221	+			46					Q8TD01	Missense_Mutation	SNP	ENST00000302312.4	37	c.136A>G	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922895	0.52653	.	.	ENSG00000169877	ENST00000302312	T	0.78481	-1.18	5.88	3.45	0.39498	.	0.486769	0.20785	N	0.085732	T	0.64000	0.2559	L	0.32530	0.975	0.25622	N	0.986383	B	0.02656	0.0	B	0.11329	0.006	T	0.53641	-0.8410	10	0.41790	T	0.15	.	5.9949	0.19489	0.7599:0.0:0.2401:0.0	.	46	Q9NZD4	AHSP_HUMAN	D	46	ENSP00000307199:N46D	ENSP00000307199:N46D	N	+	1	0	AHSP	31447340	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	0.761000	0.26489	0.911000	0.36747	0.533000	0.62120	AAC		0.547	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		18	55	0	0	0	0.007413	0	18	55				
SLC12A3	6559	broad.mit.edu	37	16	56904030	56904030	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:56904030C>T	ENST00000563236.1	+	5	649	c.624C>T	c.(622-624)tcC>tcT	p.S208S	SLC12A3_ENST00000262502.5_Silent_p.S207S|SLC12A3_ENST00000438926.2_Silent_p.S208S|SLC12A3_ENST00000566786.1_Silent_p.S207S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	208					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.S208S(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCATCTCCCGGAGTCTGG	0.627																																							uc010ccm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(622-624)TCC>TCT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						90.0	91.0	91.0					16																	56904030		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904030C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.624C>T	16.37:g.56904030C>T						SLC12A3_uc002ekd.3_Silent_p.S208S|SLC12A3_uc010ccn.2_Silent_p.S207S	p.S208S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			5	653	+			208			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.624C>T	CCDS58464.1																																																																																				0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			5	89	0	0	0	0.001168	0	5	89				
KIFC3	3801	broad.mit.edu	37	16	57804605	57804605	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:57804605A>C	ENST00000379655.4	-	7	1030	c.773T>G	c.(772-774)aTc>aGc	p.I258S	KIFC3_ENST00000541240.1_Missense_Mutation_p.I280S|KIFC3_ENST00000543930.1_Missense_Mutation_p.I119S|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000562903.1_Missense_Mutation_p.I119S|KIFC3_ENST00000421376.2_Missense_Mutation_p.I119S|KIFC3_ENST00000540079.2_Missense_Mutation_p.I156S|KIFC3_ENST00000465878.2_Missense_Mutation_p.I119S|KIFC3_ENST00000445690.2_Missense_Mutation_p.I258S|KIFC3_ENST00000539578.1_Missense_Mutation_p.I200S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	258					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I258S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CACTGTCTTGATGACATACTG	0.632																																							uc002emp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(772-774)ATC>AGC		kinesin family member C3 isoform 1							53.0	36.0	42.0					16																	57804605		2191	4290	6481	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57804605A>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.773T>G	16.37:g.57804605A>C	ENSP00000368976:p.Ile258Ser					KIFC3_uc010vhw.1_Missense_Mutation_p.I156S|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.I119S|KIFC3_uc010vhx.1_Missense_Mutation_p.I119S|KIFC3_uc010cdf.2_Missense_Mutation_p.I119S|KIFC3_uc002emo.3_Missense_Mutation_p.I119S|KIFC3_uc010vhy.1_Missense_Mutation_p.I200S|KIFC3_uc002emq.2_Missense_Mutation_p.I258S|KIFC3_uc010vhz.1_Missense_Mutation_p.I280S|KIFC3_uc002emr.1_Intron	p.I258S	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN			7	970	-		all_neural(199;0.224)	258			Potential.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.773T>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137435	0.56936	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.73897	-0.74;-0.72;-0.71;-0.73;-0.71;-0.79;-0.72	5.67	5.67	0.87782	.	0.175564	0.49305	D	0.000159	T	0.67258	0.2874	L	0.44542	1.39	0.34327	D	0.687293	B;B;B;B;B;B	0.28055	0.126;0.199;0.025;0.003;0.054;0.02	B;B;B;B;B;B	0.30572	0.034;0.117;0.024;0.005;0.034;0.024	T	0.70096	-0.4966	10	0.16420	T	0.52	.	14.7504	0.69522	1.0:0.0:0.0:0.0	.	280;200;119;156;258;119	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	S	258;258;119;280;156;119;200	ENSP00000368976:I258S;ENSP00000401696:I258S;ENSP00000396399:I119S;ENSP00000442008:I280S;ENSP00000438805:I156S;ENSP00000444012:I119S;ENSP00000444884:I200S	ENSP00000368976:I258S	I	-	2	0	KIFC3	56362106	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.434000	0.66526	2.178000	0.69098	0.533000	0.62120	ATC		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		2	5	0	0	0	0.004672	0	2	5				
ADAMTS18	170692	broad.mit.edu	37	16	77393252	77393252	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:77393252C>A	ENST00000282849.5	-	8	1703	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	429	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G429C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAGGCAAGGCCAAGTCCTGTG	0.453																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1285-1287)GGC>TGC		ADAM metallopeptidase with thrombospondin type 1							170.0	107.0	128.0					16																	77393252		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77393252C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1285G>T	16.37:g.77393252C>A	ENSP00000282849:p.Gly429Cys					ADAMTS18_uc010chc.1_Missense_Mutation_p.G17C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G125C|ADAMTS18_uc010vni.1_RNA	p.G429C	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			8	1704	-			429			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1285G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782626	0.90282	.	.	ENSG00000140873	ENST00000282849	D	0.87103	-2.21	4.98	4.98	0.66077	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.95301	0.8403	10	0.72032	D	0.01	.	17.7791	0.88518	0.0:1.0:0.0:0.0	.	429;429	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	C	429	ENSP00000282849:G429C	ENSP00000282849:G429C	G	-	1	0	ADAMTS18	75950753	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	7.627000	0.83176	2.758000	0.94735	0.563000	0.77884	GGC		0.453	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			15	14	1	0	1.02788e-11	0.00499	1.33778e-11	15	14				
FBXO31	79791	broad.mit.edu	37	16	87377299	87377299	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:87377299A>G	ENST00000311635.7	-	4	574	c.562T>C	c.(562-564)Ttc>Ctc	p.F188L		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	188					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.F16L(1)|p.F188L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGAGGCTTGAATCTCATAGGG	0.587																																							uc002fjw.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(562-564)TTC>CTC		F-box protein 31							90.0	81.0	84.0					16																	87377299		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87377299A>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.562T>C	16.37:g.87377299A>G	ENSP00000310841:p.Phe188Leu					FBXO31_uc010vot.1_Missense_Mutation_p.F16L|FBXO31_uc002fjv.2_Missense_Mutation_p.F80L	p.F188L	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	4	606	-			188					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.562T>C	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126911	0.56721	.	.	ENSG00000103264	ENST00000311635	T	0.68025	-0.3	5.33	5.33	0.75918	.	0.143098	0.56097	D	0.000025	T	0.43433	0.1247	N	0.08118	0	0.40208	D	0.977596	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.44174	-0.9345	10	0.02654	T	1	-20.8533	15.2822	0.73794	1.0:0.0:0.0:0.0	.	188;80	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	L	188	ENSP00000310841:F188L	ENSP00000310841:F188L	F	-	1	0	FBXO31	85934800	1.000000	0.71417	0.956000	0.39512	0.869000	0.49853	4.444000	0.60001	2.023000	0.59567	0.533000	0.62120	TTC		0.587	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		3	24	0	0	0	0.004672	0	3	24				
CDH15	1013	broad.mit.edu	37	16	89245971	89245971	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:89245971C>A	ENST00000289746.2	+	2	255	c.190C>A	c.(190-192)Ccc>Acc	p.P64T	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P64T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCTCCCCTACCCCCTGGTTCA	0.677																																							uc002fmt.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(190-192)CCC>ACC		cadherin 15 preproprotein							49.0	51.0	50.0					16																	89245971		2198	4300	6498	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89245971C>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.190C>A	16.37:g.89245971C>A	ENSP00000289746:p.Pro64Thr					CDH15_uc010cij.1_Missense_Mutation_p.P64T	p.P64T	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	2	267	+			64			Cadherin 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.190C>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603393	0.28534	.	.	ENSG00000129910	ENST00000289746	T	0.45668	0.89	4.47	1.0	0.19881	Cadherin (1);Cadherin-like (1);	0.432574	0.19439	N	0.114240	T	0.33818	0.0876	M	0.64630	1.985	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12243	-1.0555	10	0.13470	T	0.59	.	9.2304	0.37432	0.2824:0.5911:0.1265:0.0	.	64	P55291	CAD15_HUMAN	T	64	ENSP00000289746:P64T	ENSP00000289746:P64T	P	+	1	0	CDH15	87773472	0.000000	0.05858	0.560000	0.28344	0.830000	0.47004	0.046000	0.14035	0.830000	0.34757	0.407000	0.27541	CCC		0.677	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		27	73	1	0	1.04121e-07	0.005443	1.24546e-07	27	73				
DPEP1	1800	broad.mit.edu	37	16	89703053	89703053	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:89703053G>T	ENST00000393092.3	+	5	774	c.483G>T	c.(481-483)atG>atT	p.M161I	DPEP1_ENST00000261615.4_Missense_Mutation_p.M161I|DPEP1_ENST00000421184.1_Missense_Mutation_p.M161I	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	161					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.M161I(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGCTGGGCATGCGGTACCTGA	0.677																																							uc010cin.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(481-483)ATG>ATT		dipeptidase 1 precursor	Cilastatin(DB01597)						79.0	71.0	74.0					16																	89703053		2192	4294	6486	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703053G>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.483G>T	16.37:g.89703053G>T	ENSP00000376807:p.Met161Ile					DPEP1_uc002fnr.3_Missense_Mutation_p.M161I|DPEP1_uc002fns.3_Missense_Mutation_p.M161I	p.M161I	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	5	686	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	161					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.483G>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646776	0.47258	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.20598	2.06;2.06;2.06	5.08	5.08	0.68730	.	0.049117	0.85682	D	0.000000	T	0.15132	0.0365	L	0.29908	0.895	0.37728	D	0.925181	B	0.10296	0.003	B	0.17433	0.018	T	0.07520	-1.0768	10	0.56958	D	0.05	-24.5935	7.396	0.26936	0.0896:0.171:0.7394:0.0	.	161	P16444	DPEP1_HUMAN	I	161	ENSP00000397313:M161I;ENSP00000376807:M161I;ENSP00000261615:M161I	ENSP00000261615:M161I	M	+	3	0	DPEP1	88230554	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.987000	0.29603	2.368000	0.80403	0.550000	0.68814	ATG		0.677	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		9	44	1	0	2.52707e-12	0.006214	3.32369e-12	9	44				
GSG2	83903	broad.mit.edu	37	17	3629369	3629369	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:3629369G>C	ENST00000325418.4	+	1	2159	c.2140G>C	c.(2140-2142)Gac>Cac	p.D714H	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)	p.D714H(1)									GTTTACCGGTGACGGTGACTA	0.473																																							uc002fwp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2140-2142)GAC>CAC		haspin							107.0	98.0	101.0					17																	3629369		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629369G>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2140G>C	17.37:g.3629369G>C	ENSP00000325290:p.Asp714His					ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	p.D714H	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			1	2173	+			714			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.2140G>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539690	0.27563	.	.	ENSG00000177602	ENST00000325418	T	0.06218	3.33	5.41	-3.23	0.05109	Protein kinase-like domain (1);Domain of unknown function DUF3635 (1);Protein kinase, catalytic domain (1);	0.252918	0.31589	N	0.007390	T	0.02929	0.0087	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	10	0.87932	D	0	-43.4935	8.293	0.31969	0.2453:0.5551:0.1996:0.0	.	714	Q8TF76	HASP_HUMAN	H	714	ENSP00000325290:D714H	ENSP00000325290:D714H	D	+	1	0	GSG2	3576118	0.001000	0.12720	0.238000	0.24106	0.718000	0.41266	-0.013000	0.12678	-0.173000	0.10761	0.655000	0.94253	GAC		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		8	71	0	0	0	0.00308	0	8	71				
ZFP3	124961	broad.mit.edu	37	17	4996298	4996298	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:4996298G>C	ENST00000318833.3	+	2	1835	c.1499G>C	c.(1498-1500)tGt>tCt	p.C500S		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C500S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AGTGTTCACTGTATGGAGTAA	0.393																																							uc002gaq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)TGT>TCT		zinc finger protein-3							56.0	58.0	57.0					17																	4996298		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996298G>C	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1499G>C	17.37:g.4996298G>C	ENSP00000320347:p.Cys500Ser						p.C500S	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			2	1624	+			500					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1499G>C	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080148	0.36662	.	.	ENSG00000180787	ENST00000318833	T	0.08634	3.07	3.91	2.92	0.33932	Zinc finger, C2H2 (1);	0.000000	0.39544	N	0.001321	T	0.01661	0.0053	N	0.00166	-1.94	0.26774	N	0.969733	B	0.26809	0.16	B	0.19666	0.026	T	0.35599	-0.9782	10	0.45353	T	0.12	-7.4131	6.8952	0.24253	0.0:0.1956:0.6025:0.2019	.	500	Q96NJ6	ZFP3_HUMAN	S	500	ENSP00000320347:C500S	ENSP00000320347:C500S	C	+	2	0	ZFP3	4937022	0.888000	0.30383	0.957000	0.39632	0.903000	0.53119	1.459000	0.35234	1.208000	0.43306	0.650000	0.86243	TGT		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		6	53	0	0	0	0.001168	0	6	53				
PFAS	5198	broad.mit.edu	37	17	8169551	8169551	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:8169551G>T	ENST00000314666.6	+	22	2834		c.e22-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.?(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCTTCCTCCAGACCGCCTCCT	0.582																																							uc002gkr.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.e22-1		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						80.0	71.0	74.0					17																	8169551		2203	4300	6503	SO:0001630	splice_region_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169551G>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2702-1G>T	17.37:g.8169551G>T						PFAS_uc010vuv.1_Splice_Site_p.D477_splice|PFAS_uc002gks.2_Splice_Site	p.D901_splice	NM_012393	NP_036525	O15067	PUR4_HUMAN			22	2843	+								A6H8V8	Splice_Site	SNP	ENST00000314666.6	37	c.2702_splice	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710784	0.68730	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	.	.	.	5.92	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7697	0.57412	0.0792:0.0:0.9208:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8110276	1.000000	0.71417	0.961000	0.40146	0.929000	0.56500	8.727000	0.91480	1.510000	0.48803	0.655000	0.94253	.		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		Intron	18	24	1	0	8.28177e-16	0.007413	1.15732e-15	18	24				
MYH13	8735	broad.mit.edu	37	17	10231408	10231408	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10231408G>A	ENST00000418404.3	-	21	2629	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.I822I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	822					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I822I(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAAAAGAGCGGATGTTGTACT	0.512											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002gmk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2464-2466)ATC>ATT		myosin, heavy polypeptide 13, skeletal muscle							82.0	82.0	82.0					17																	10231408		2195	4300	6495	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231408G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2466C>T	17.37:g.10231408G>A			OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663		p.I822I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			22	2556	-			822					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2466C>T	CCDS45613.1																																																																																				0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		29	20	0	0	0	0.002445	0	29	20				
MYH1	4619	broad.mit.edu	37	17	10419268	10419268	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10419268G>T	ENST00000226207.5	-	5	574	c.480C>A	c.(478-480)gaC>gaA	p.D160E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	160	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)	p.D160E(1)		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						GATAGGCATTGTCAGAGATGG	0.453																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(478-480)GAC>GAA		myosin, heavy chain 1, skeletal muscle, adult							160.0	163.0	162.0					17																	10419268		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419268G>T		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.480C>A	17.37:g.10419268G>T	ENSP00000226207:p.Asp160Glu					uc002gml.1_Intron	p.D160E	NM_005963	NP_005954	P12882	MYH1_HUMAN			5	574	-			160			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.480C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711316	0.68730	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87650	-2.28	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.45606	U	0.000348	D	0.91372	0.7278	M	0.72624	2.21	0.49798	D	0.999828	P	0.42785	0.79	P	0.55749	0.783	D	0.91604	0.5297	10	0.87932	D	0	.	13.4964	0.61428	0.071:0.0:0.9289:0.0	.	160	P12882	MYH1_HUMAN	E	160	ENSP00000226207:D160E	ENSP00000226207:D160E	D	-	3	2	MYH1	10359993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.576000	0.53878	2.791000	0.96007	0.655000	0.94253	GAC		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		100	118	1	0	1.66795e-42	0.00361	2.64927e-42	100	118				
MYH2	4620	broad.mit.edu	37	17	10427854	10427854	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10427854C>G	ENST00000245503.5	-	35	5488	c.5104G>C	c.(5104-5106)Gag>Cag	p.E1702Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1702Q|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1702					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCTCCTCTCTGTCTGTTCC	0.577																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5104-5106)GAG>CAG		myosin heavy chain IIa							98.0	94.0	95.0					17																	10427854		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427854C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5104G>C	17.37:g.10427854C>G	ENSP00000245503:p.Glu1702Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1702Q|MYH2_uc010coj.2_Intron	p.E1702Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5232	-			1702			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5104G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033226	0.75504	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80824	-1.42;-1.42	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.39687	U	0.001292	D	0.93501	0.7926	H	0.97465	4.01	0.58432	D	0.999998	D	0.62365	0.991	D	0.67548	0.952	D	0.95291	0.8395	10	0.72032	D	0.01	.	19.1555	0.93509	0.0:1.0:0.0:0.0	.	1702	Q9UKX2	MYH2_HUMAN	Q	1702	ENSP00000245503:E1702Q;ENSP00000380367:E1702Q	ENSP00000245503:E1702Q	E	-	1	0	MYH2	10368579	1.000000	0.71417	0.968000	0.41197	0.703000	0.40648	7.563000	0.82314	2.755000	0.94549	0.491000	0.48974	GAG		0.577	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		35	55	0	0	0	0.003755	0	35	55				
DNAH9	1770	broad.mit.edu	37	17	11522884	11522884	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:11522884C>A	ENST00000262442.4	+	6	1204	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.P379Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	379	Stem. {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)	p.P379Q(1)		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)		TATCTCAGCCCAGAAGACCTG	0.438																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1135-1137)CCA>CAA		dynein, axonemal, heavy chain 9 isoform 2							110.0	112.0	111.0					17																	11522884		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.chr17:11522884C>A	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.1136C>A	17.37:g.11522884C>A	ENSP00000262442:p.Pro379Gln						p.P379Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1204	+		Breast(5;0.0122)|all_epithelial(5;0.131)	379			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1136C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774750	0.49786	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56611	0.45;0.45	5.95	4.99	0.66335	Dynein heavy chain, domain-1 (1);	0.134613	0.49916	D	0.000130	T	0.64649	0.2617	M	0.64997	1.995	0.80722	D	1	P	0.49253	0.921	P	0.60345	0.873	T	0.65434	-0.6169	10	0.49607	T	0.09	.	10.6951	0.45894	0.1316:0.7997:0.0:0.0687	.	379	Q9NYC9	DYH9_HUMAN	Q	379	ENSP00000262442:P379Q;ENSP00000414874:P379Q	ENSP00000262442:P379Q	P	+	2	0	DNAH9	11463609	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.327000	0.52045	1.544000	0.49359	-0.119000	0.15052	CCA		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		53	57	1	0	1.11015e-26	0.00361	1.68357e-26	53	57				
DNAH9	1770	broad.mit.edu	37	17	11778317	11778317	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:11778317G>A	ENST00000262442.4	+	53	10362	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3432N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3432	AAA 5. {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)	p.D3432N(1)		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)		GCTGATGGATGATGCTGACGT	0.582																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(10294-10296)GAT>AAT		dynein, axonemal, heavy chain 9 isoform 2							112.0	99.0	104.0					17																	11778317		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.chr17:11778317G>A	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.10294G>A	17.37:g.11778317G>A	ENSP00000262442:p.Asp3432Asn					DNAH9_uc010coo.2_Missense_Mutation_p.D2726N	p.D3432N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	53	10362	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3432			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10294G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707981	0.68615	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	4.51	4.51	0.55191	.	0.325306	0.30667	N	0.009138	T	0.48642	0.1511	M	0.67397	2.05	0.80722	D	1	B	0.26902	0.163	B	0.40477	0.33	T	0.53641	-0.8410	10	0.54805	T	0.06	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	3432	Q9NYC9	DYH9_HUMAN	N	3432;3432;2014	ENSP00000262442:D3432N;ENSP00000414874:D3432N	ENSP00000262442:D3432N	D	+	1	0	DNAH9	11719042	1.000000	0.71417	0.887000	0.34795	0.068000	0.16541	7.736000	0.84948	2.357000	0.79964	0.655000	0.94253	GAT		0.582	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		36	56	0	0	0	0.003755	0	36	56				
MYOCD	93649	broad.mit.edu	37	17	12666801	12666801	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:12666801C>T	ENST00000343344.4	+	13	2657	c.2657C>T	c.(2656-2658)cCc>cTc	p.P886L	MYOCD_ENST00000425538.1_Missense_Mutation_p.P934L|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	886					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P934L(1)|p.P886L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTGAATCTCCCTGGGAAACC	0.547																																							uc002gnn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2656-2658)CCC>CTC		myocardin isoform 2							79.0	68.0	72.0					17																	12666801		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666801C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2657C>T	17.37:g.12666801C>T	ENSP00000341835:p.Pro886Leu					MYOCD_uc002gno.2_Missense_Mutation_p.P934L|MYOCD_uc002gnq.2_Missense_Mutation_p.P610L	p.P886L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2956	+			886					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2657C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915164	0.73098	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.47528	0.84;0.85	6.08	6.08	0.98989	.	0.109289	0.64402	D	0.000006	T	0.68421	0.2999	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.94;0.992;0.981	T	0.67806	-0.5575	10	0.72032	D	0.01	-26.0199	19.4349	0.94788	0.0:1.0:0.0:0.0	.	610;934;886	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	610;934;886;596	ENSP00000341835:P886L;ENSP00000400148:P596L	ENSP00000341835:P886L	P	+	2	0	MYOCD	12607526	1.000000	0.71417	0.964000	0.40570	0.369000	0.29798	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	CCC		0.547	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		26	27	0	0	0	0.003954	0	26	27				
NCOR1	9611	broad.mit.edu	37	17	16049783	16049783	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:16049783C>A	ENST00000268712.3	-	10	1246	c.989G>T	c.(988-990)cGg>cTg	p.R330L	NCOR1_ENST00000395851.1_Missense_Mutation_p.R330L|NCOR1_ENST00000395848.1_Missense_Mutation_p.R221L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	330	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R330L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTTCCTCCGAGGATTATT	0.378																																							uc002gpo.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(988-990)CGG>CTG		nuclear receptor co-repressor 1							150.0	140.0	143.0					17																	16049783		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16049783C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.989G>T	17.37:g.16049783C>A	ENSP00000268712:p.Arg330Leu					NCOR1_uc002gpn.2_Missense_Mutation_p.R330L|NCOR1_uc002gpp.1_Missense_Mutation_p.R221L|NCOR1_uc002gpr.2_Missense_Mutation_p.R221L|NCOR1_uc002gps.1_Missense_Mutation_p.R339L|NCOR1_uc010coz.1_Missense_Mutation_p.R146L|NCOR1_uc010cpb.1_Missense_Mutation_p.R339L|NCOR1_uc010cpa.1_Missense_Mutation_p.R330L	p.R330L	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	10	1229	-			330			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.989G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108971	0.56398	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.50333	1.59	0.80722	D	1	D;D;D;P;D;D	0.89917	0.995;0.995;0.995;0.755;0.992;1.0	D;D;D;P;D;D	0.87578	0.926;0.926;0.926;0.447;0.964;0.998	T	0.62020	-0.6942	10	0.72032	D	0.01	-10.0829	18.5255	0.90971	0.0:1.0:0.0:0.0	.	339;330;330;221;330;330	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	L	330;330;221;339;221;330;339	ENSP00000268712:R330L;ENSP00000379192:R330L;ENSP00000379189:R221L;ENSP00000407998:R330L;ENSP00000387727:R339L	ENSP00000268712:R330L	R	-	2	0	NCOR1	15990508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	CGG		0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		29	42	1	0	1.5548e-18	0.005443	2.23358e-18	29	42				
TOM1L2	146691	broad.mit.edu	37	17	17754212	17754212	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:17754212C>A	ENST00000379504.3	-	13	1416	c.1333G>T	c.(1333-1335)Gac>Tac	p.D445Y	TOM1L2_ENST00000581396.1_Missense_Mutation_p.D395Y|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000478943.1_Missense_Mutation_p.D178Y|TOM1L2_ENST00000535933.1_Missense_Mutation_p.D421Y|TOM1L2_ENST00000542206.1_Missense_Mutation_p.D326Y|TOM1L2_ENST00000318094.10_Missense_Mutation_p.D400Y|TOM1L2_ENST00000395739.4_Missense_Mutation_p.D400Y	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	445					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)	p.D445Y(1)|p.D395Y(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTCACCAGGTCGGTCCTGAGC	0.622																																					Melanoma(192;2505 2909 14455 25269)	Melanoma(192;2505 2909 14455 25269)	uc002grz.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1333-1335)GAC>TAC		target of myb1-like 2 isoform 3							123.0	105.0	111.0					17																	17754212		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17754212C>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1333G>T	17.37:g.17754212C>A	ENSP00000368818:p.Asp445Tyr					TOM1L2_uc002gry.3_Missense_Mutation_p.D395Y|TOM1L2_uc010vwy.1_Missense_Mutation_p.D421Y|TOM1L2_uc010cpr.2_Missense_Mutation_p.D400Y|TOM1L2_uc010vwz.1_Missense_Mutation_p.D326Y|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.D178Y	p.D445Y	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN			13	1490	-	all_neural(463;0.228)		445					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1333G>T	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777549	0.90195	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000542206	T;T;T;T	0.58210	1.62;1.6;1.35;0.35	5.38	5.38	0.77491	.	0.584986	0.15204	U	0.274833	T	0.75649	0.3878	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	T	0.77088	-0.2717	10	0.72032	D	0.01	-25.7969	19.1391	0.93441	0.0:1.0:0.0:0.0	.	326;421;400;445;395	F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;TM1L2_HUMAN;.	Y	445;395;400;421;326	ENSP00000368818:D445Y;ENSP00000379088:D400Y;ENSP00000438621:D421Y;ENSP00000445188:D326Y	ENSP00000312860:D395Y	D	-	1	0	TOM1L2	17694937	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.078000	0.76821	2.504000	0.84457	0.557000	0.71058	GAC		0.622	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			26	33	1	0	5.61819e-17	0.005443	7.95302e-17	26	33				
KIAA0100	9703	broad.mit.edu	37	17	26964910	26964910	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:26964910C>A	ENST00000528896.2	-	14	1789	c.1715G>T	c.(1714-1716)tGg>tTg	p.W572L	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.W429L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.W429L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	572						extracellular region (GO:0005576)		p.W572F(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTCCACCTTCCACAGTAATGA	0.478																																							uc002hbu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1714-1716)TGG>TTG		hypothetical protein LOC9703 precursor							118.0	101.0	107.0					17																	26964910		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964910C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1715G>T	17.37:g.26964910C>A	ENSP00000436773:p.Trp572Leu						p.W572L	NM_014680	NP_055495	Q14667	K0100_HUMAN			14	1814	-	Lung NSC(42;0.00431)		572					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1715G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476986	0.44044	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.20200	2.1;2.09	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.107944	0.64402	D	0.000003	T	0.18173	0.0436	L	0.27053	0.805	0.47511	D	0.999447	P	0.44139	0.827	B	0.42030	0.373	T	0.02966	-1.1088	10	0.10111	T	0.7	.	19.9772	0.97314	0.0:1.0:0.0:0.0	.	572	Q14667	K0100_HUMAN	L	572;572;572;429	ENSP00000436773:W572L;ENSP00000446443:W429L	ENSP00000005905:W572L	W	-	2	0	KIAA0100	23989037	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.892000	0.63193	2.724000	0.93272	0.563000	0.77884	TGG		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		10	63	1	0	7.03913e-09	0.001368	8.65743e-09	10	63				
NF1	4763	broad.mit.edu	37	17	29527486	29527486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:29527486G>C	ENST00000358273.4	+	9	1318	c.935G>C	c.(934-936)gGa>gCa	p.G312A	NF1_ENST00000431387.4_Missense_Mutation_p.G312A|NF1_ENST00000356175.3_Missense_Mutation_p.G312A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	312					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.G312A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCCATGGAGGAAGTAGGCAG	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		16	Whole gene deletion(8)|Unknown(6)|Substitution - Missense(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(3)|central_nervous_system(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(934-936)GGA>GCA		neurofibromin isoform 1							101.0	88.0	92.0					17																	29527486		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527486G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.935G>C	17.37:g.29527486G>C	ENSP00000351015:p.Gly312Ala	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.G312A|NF1_uc002hgf.1_Missense_Mutation_p.G312A|NF1_uc002hgh.2_Missense_Mutation_p.G312A|NF1_uc010csn.1_Missense_Mutation_p.G172A	p.G312A	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1268	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	312					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.935G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203341	0.58234	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.64260	2.91;-0.09;-0.09	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	L	0.47716	1.5	0.80722	D	1	B;D;B;D;D	0.76494	0.02;0.999;0.041;0.974;0.974	B;D;B;P;P	0.80764	0.012;0.994;0.021;0.684;0.684	T	0.64028	-0.6503	10	0.07813	T	0.8	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	312;312;312;312;312	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	A	312	ENSP00000412921:G312A;ENSP00000351015:G312A;ENSP00000348498:G312A	ENSP00000348498:G312A	G	+	2	0	NF1	26551612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.082000	0.94059	2.542000	0.85734	0.591000	0.81541	GGA		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	38	0	0	0	0.002299	0	20	38				
SLC35G3	146861	broad.mit.edu	37	17	33520748	33520748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:33520748A>T	ENST00000297307.5	-	1	664	c.579T>A	c.(577-579)taT>taA	p.Y193*	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	193						integral component of membrane (GO:0016021)		p.Y193*(1)									AAGCCTCCACATAGCCCAGGG	0.592																																							uc002hjd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(577-579)TAT>TAA		acyl-malonyl condensing enzyme 1							113.0	120.0	118.0					17																	33520748		2203	4300	6503	SO:0001587	stop_gained	146861					integral to membrane		g.chr17:33520748A>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.579T>A	17.37:g.33520748A>T	ENSP00000297307:p.Tyr193*						p.Y193*	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	665	-			193			Helical; (Potential).		B9EGE9	Nonsense_Mutation	SNP	ENST00000297307.5	37	c.579T>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373634	0.42105	.	.	ENSG00000164729	ENST00000297307	.	.	.	.	.	.	.	0.000000	0.43579	D	0.000557	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7502	4.4978	0.11848	0.9993:0.0:7.0E-4:0.0	.	.	.	.	X	193	.	ENSP00000297307:Y193X	Y	-	3	2	SLC35G3	30544861	0.716000	0.27956	0.149000	0.22428	0.150000	0.21749	0.575000	0.23729	0.056000	0.16144	0.055000	0.15244	TAT		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		73	107	0	0	0	0.00361	0	73	107				
SLFN13	146857	broad.mit.edu	37	17	33768061	33768061	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:33768061T>C	ENST00000285013.6	-	6	2522	c.2247A>G	c.(2245-2247)atA>atG	p.I749M	SLFN13_ENST00000526861.1_Missense_Mutation_p.I749M|SLFN13_ENST00000533791.1_Missense_Mutation_p.I749M|SLFN13_ENST00000360502.2_Missense_Mutation_p.I431M|SLFN13_ENST00000534689.1_Missense_Mutation_p.I431M|SLFN13_ENST00000542635.1_Missense_Mutation_p.I749M	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	749						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.I749M(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGATTTTCTATAATTAGTT	0.413																																							uc002hjk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2245-2247)ATA>ATG		schlafen family member 13							108.0	118.0	115.0					17																	33768061		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768061T>C	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2247A>G	17.37:g.33768061T>C	ENSP00000285013:p.Ile749Met					SLFN13_uc010wch.1_Missense_Mutation_p.I749M|SLFN13_uc002hjl.2_Missense_Mutation_p.I749M|SLFN13_uc010ctt.2_Missense_Mutation_p.I431M|SLFN13_uc002hjm.2_Missense_Mutation_p.I418M	p.I749M	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2577	-			749					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2247A>G	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	12.68	2.009523	0.35415	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	3.41	0.736	0.18307	.	1.542540	0.03699	N	0.248334	T	0.79811	0.4510	N	0.22421	0.69	0.09310	N	1	P;P	0.50819	0.939;0.938	P;P	0.52109	0.532;0.69	T	0.66508	-0.5906	10	0.66056	D	0.02	.	5.0197	0.14354	0.0:0.3632:0.0:0.6368	.	431;749	Q68D06-2;Q68D06	.;SLN13_HUMAN	M	749;431;749;749;431	ENSP00000285013:I749M;ENSP00000353692:I431M;ENSP00000434439:I749M;ENSP00000444016:I749M;ENSP00000435442:I431M	ENSP00000285013:I749M	I	-	3	3	SLFN13	30792174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.616000	0.24344	0.000000	0.14550	0.334000	0.21626	ATA		0.413	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		40	143	0	0	0	0.005524	0	40	143				
CACNB1	782	broad.mit.edu	37	17	37347809	37347809	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:37347809G>C	ENST00000394303.3	-	3	416	c.209C>G	c.(208-210)tCt>tGt	p.S70C	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.S70C|CACNB1_ENST00000344140.5_Missense_Mutation_p.S70C	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	70					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S70C(2)|p.S70Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATACATCAGAGTCTGATGG	0.587																																					Esophageal Squamous(5;100 366 38393 41452 45827)	Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NA																	4	Substitution - Missense(4)		lung(2)|breast(2)	large_intestine(1)|ovary(1)	2						c.(208-210)TCT>TGT		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						89.0	73.0	79.0					17																	37347809		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37347809G>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.209C>G	17.37:g.37347809G>C	ENSP00000377840:p.Ser70Cys					CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.S70C|CACNB1_uc002hro.2_Missense_Mutation_p.S70C|CACNB1_uc002hrp.1_Missense_Mutation_p.S70C|CACNB1_uc010web.1_Missense_Mutation_p.S23C	p.S70C	NM_000723	NP_000714	Q02641	CACB1_HUMAN			3	362	-			70					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.209C>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907764	0.92107	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.80393	-1.32;-1.37;-1.33	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.992;0.998;0.999;0.987;0.998	D	0.91817	0.5464	10	0.87932	D	0	-9.8133	17.5951	0.88009	0.0:0.0:1.0:0.0	.	23;70;70;70;70	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	C	20;70;70;70;23	ENSP00000377840:S70C;ENSP00000345461:S70C;ENSP00000377847:S70C	ENSP00000345461:S70C	S	-	2	0	CACNB1	34601335	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	9.592000	0.98245	2.503000	0.84419	0.585000	0.79938	TCT		0.587	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			5	56	0	0	0	0.000602	0	5	56				
KRT26	353288	broad.mit.edu	37	17	38925158	38925158	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:38925158T>A	ENST00000335552.4	-	6	1208	c.1160A>T	c.(1159-1161)tAt>tTt	p.Y387F		NM_181539.4	NP_853517.2			keratin 26									p.Y387F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TAAGTTGCAATAAATGTCAAT	0.328																																							uc002hvf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)TAT>TTT		keratin 26							40.0	41.0	41.0					17																	38925158		2202	4298	6500	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38925158T>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1160A>T	17.37:g.38925158T>A	ENSP00000334798:p.Tyr387Phe						p.Y387F	NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN			6	1206	-		Breast(137;0.00526)	387			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000335552.4	37	c.1160A>T	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241345	0.79912	.	.	ENSG00000186393	ENST00000335552	D	0.96940	-4.18	5.26	5.26	0.73747	Filament (1);	0.000000	0.50627	D	0.000117	D	0.98773	0.9587	H	0.96970	3.915	0.42444	D	0.992729	D	0.89917	1.0	D	0.97110	1.0	D	0.99871	1.1097	10	0.87932	D	0	.	15.127	0.72489	0.0:0.0:0.0:1.0	.	387	Q7Z3Y9	K1C26_HUMAN	F	387	ENSP00000334798:Y387F	ENSP00000334798:Y387F	Y	-	2	0	KRT26	36178684	1.000000	0.71417	0.107000	0.21349	0.970000	0.65996	6.003000	0.70701	2.108000	0.64289	0.533000	0.62120	TAT		0.328	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		15	24	0	0	0	0.00245	0	15	24				
KRT28	162605	broad.mit.edu	37	17	38948732	38948732	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:38948732C>G	ENST00000306658.7	-	8	1407	c.1342G>C	c.(1342-1344)Gaa>Caa	p.E448Q		NM_181535.3	NP_853513.2			keratin 28									p.E448Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GATGTCTTTTCTTCAATGGAG	0.363																																					Melanoma(19;789 869 15380 26882 39836)	Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)GAA>CAA		keratin 25D							125.0	116.0	119.0					17																	38948732		2202	4300	6502	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38948732C>G	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1342G>C	17.37:g.38948732C>G	ENSP00000305263:p.Glu448Gln						p.E448Q	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			8	1408	-		Breast(137;0.000301)	448			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1342G>C	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001230	0.74818	.	.	ENSG00000173908	ENST00000306658	D	0.84730	-1.89	6.1	5.13	0.70059	.	0.097412	0.45126	D	0.000391	D	0.84848	0.5563	M	0.68317	2.08	0.34668	D	0.723432	P	0.50272	0.933	P	0.45428	0.48	D	0.89795	0.3971	10	0.59425	D	0.04	.	11.2668	0.49114	0.0:0.9166:0.0:0.0834	.	448	Q7Z3Y7	K1C28_HUMAN	Q	448	ENSP00000305263:E448Q	ENSP00000305263:E448Q	E	-	1	0	KRT28	36202258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	1.582000	0.49881	0.650000	0.86243	GAA		0.363	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		21	37	0	0	0	0.002299	0	21	37				
KRT38	8687	broad.mit.edu	37	17	39597003	39597003	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:39597003C>A	ENST00000246646.3	-	1	170	c.171G>T	c.(169-171)gtG>gtT	p.V57V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	57	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.V57V(1)		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)				GAGTGGACCCCACACGGACTC	0.632																																							uc002hwq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(169-171)GTG>GTT		keratin 38							44.0	47.0	46.0					17																	39597003		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39597003C>A	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.171G>T	17.37:g.39597003C>A							p.V57V	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	594	-		Breast(137;0.000496)	57			Head.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.171G>T	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		10	47	1	0	0.000673444	0.008291	0.000730402	10	47				
KRT19	3880	broad.mit.edu	37	17	39684318	39684318	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:39684318T>C	ENST00000361566.3	-	1	242	c.182A>G	c.(181-183)tAc>tGc	p.Y61C		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	61	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.Y61C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGCCGCCGTAGGCCCCCGA	0.716																																							uc002hxd.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)TAC>TGC		keratin 19							17.0	23.0	21.0					17																	39684318		2135	4200	6335	SO:0001583	missense	3880				interspecies interaction between organisms|response to estrogen stimulus|sarcomere organization	costamere|intermediate filament	protein binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr17:39684318T>C		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.182A>G	17.37:g.39684318T>C	ENSP00000355124:p.Tyr61Cys					JUP_uc010wfs.1_Intron	p.Y61C	NM_002276	NP_002267	P08727	K1C19_HUMAN			1	324	-		Breast(137;0.00038)	61			Head.		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.182A>G	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446373	0.25987	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;T	0.83075	-1.68;-1.41	4.26	4.26	0.50523	.	0.338675	0.21532	N	0.073030	D	0.84365	0.5456	L	0.56769	1.78	0.31052	N	0.715127	D	0.63880	0.993	P	0.55965	0.788	T	0.82464	-0.0444	10	0.40728	T	0.16	.	8.0385	0.30508	0.0:0.0:0.2065:0.7935	.	61	P08727	K1C19_HUMAN	C	61	ENSP00000355124:Y61C;ENSP00000408759:Y61C	ENSP00000355124:Y61C	Y	-	2	0	KRT19	36937844	0.000000	0.05858	0.995000	0.50966	0.144000	0.21451	-1.682000	0.01935	1.916000	0.55485	0.379000	0.24179	TAC		0.716	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		19	31	0	0	0	0.008871	0	19	31				
COASY	80347	broad.mit.edu	37	17	40715990	40715990	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:40715990C>T	ENST00000393818.2	+	2	1168	c.712C>T	c.(712-714)Cct>Tct	p.P238S	COASY_ENST00000421097.2_Missense_Mutation_p.P238S|COASY_ENST00000590958.1_Missense_Mutation_p.P267S|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Missense_Mutation_p.P238S|RP11-400F19.8_ENST00000585572.1_RNA	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	238	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.P238S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAAGTTGCTCCCTGAGCTGCT	0.498																																							uc002hzz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CCT>TCT		coenzyme A synthase isoform a							75.0	70.0	71.0					17																	40715990		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40715990C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.712C>T	17.37:g.40715990C>T	ENSP00000377406:p.Pro238Ser					COASY_uc010cyj.2_Missense_Mutation_p.P267S|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.P238S|COASY_uc002iac.2_Missense_Mutation_p.P238S|COASY_uc002iae.2_5'UTR	p.P238S	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	869	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	238			Phosphopantetheine adenylyltransferase.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.712C>T	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743835	0.49151	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818	T;T	0.27720	1.65;1.65	5.14	5.14	0.70334	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.201829	0.44285	D	0.000477	T	0.17365	0.0417	N	0.10782	0.045	0.80722	D	1	B;B	0.29805	0.257;0.027	B;B	0.29077	0.098;0.063	T	0.05716	-1.0868	10	0.45353	T	0.12	-11.293	11.3682	0.49684	0.1807:0.8193:0.0:0.0	.	267;238	Q13057-2;Q13057	.;COASY_HUMAN	S	267;238;238	ENSP00000413338:P238S;ENSP00000377406:P238S	ENSP00000377406:P238S	P	+	1	0	COASY	37969516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.842000	0.48230	2.835000	0.97688	0.591000	0.81541	CCT		0.498	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		14	96	0	0	0	0.004007	0	14	96				
HOXB9	3219	broad.mit.edu	37	17	46703290	46703290	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:46703290C>G	ENST00000311177.5	-	1	549	c.342G>C	c.(340-342)gcG>gcC	p.A114A	HOXB9_ENST00000550387.1_Intron|HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	114					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A114A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CCTTCACCGCCGCCTGGCCCT	0.751																																							uc002inx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(340-342)GCG>GCC		homeobox B9							6.0	7.0	7.0					17																	46703290		2033	4104	6137	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703290C>G		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.342G>C	17.37:g.46703290C>G							p.A114A	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	546	-			114					B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.342G>C	CCDS11534.1																																																																																				0.751	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			7	9	0	0	0	0.00308	0	7	9				
APPBP2	10513	broad.mit.edu	37	17	58571945	58571945	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:58571945C>A	ENST00000083182.3	-	3	548	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	87					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.M87I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CACCATGATCCATCAAAGCCT	0.348																																							uc002iys.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)ATG>ATT		amyloid beta precursor protein-binding protein							91.0	87.0	88.0					17																	58571945		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58571945C>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.261G>T	17.37:g.58571945C>A	ENSP00000083182:p.Met87Ile					APPBP2_uc010ddl.1_Missense_Mutation_p.M16I	p.M87I	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		3	549	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		87					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.261G>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922107	0.52653	.	.	ENSG00000062725	ENST00000083182	D	0.83506	-1.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	L	0.38838	1.175	0.80722	D	1	B	0.16603	0.018	B	0.28553	0.091	T	0.72350	-0.4320	10	0.24483	T	0.36	-1.6299	19.6161	0.95634	0.0:1.0:0.0:0.0	.	87	Q92624	APBP2_HUMAN	I	87	ENSP00000083182:M87I	ENSP00000083182:M87I	M	-	3	0	APPBP2	55926727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.627000	0.88993	0.585000	0.79938	ATG		0.348	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		40	40	1	0	9.58827e-17	0.00361	1.35291e-16	40	40				
INTS2	57508	broad.mit.edu	37	17	60003898	60003898	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:60003898A>T	ENST00000444766.3	-	2	207	c.132T>A	c.(130-132)ctT>ctA	p.L44L	INTS2_ENST00000251334.6_Silent_p.L36L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	44					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.L44L(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AGGGCAGAAGAAGTCTTAATT	0.468																																							uc002izn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(130-132)CTT>CTA		integrator complex subunit 2							75.0	70.0	71.0					17																	60003898		1928	4141	6069	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003898A>T	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.132T>A	17.37:g.60003898A>T						INTS2_uc002izm.2_Silent_p.L36L	p.L44L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			2	208	-			44					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.132T>A	CCDS45750.1																																																																																				0.468	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		3	24	0	0	0	0.009096	0	3	24				
KIF19	124602	broad.mit.edu	37	17	72350426	72350426	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:72350426C>A	ENST00000389916.4	+	18	2572	c.2434C>A	c.(2434-2436)Ctg>Atg	p.L812M	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	812					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)	p.L812M(1)		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						CAGCCTGTCCCTGCACTCACT	0.711																																							uc002jkm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2434-2436)CTG>ATG		kinesin family member 19							14.0	20.0	18.0					17																	72350426		2023	4166	6189	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350426C>A	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.2434C>A	17.37:g.72350426C>A	ENSP00000374566:p.Leu812Met						p.L812M	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			18	2572	+			812					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2434C>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558847	0.27827	.	.	ENSG00000196169	ENST00000389916	T	0.72394	-0.65	5.06	3.08	0.35506	.	.	.	.	.	T	0.58018	0.2093	L	0.44542	1.39	0.24412	N	0.994658	P	0.37955	0.612	B	0.37833	0.259	T	0.48703	-0.9012	9	0.34782	T	0.22	.	3.4429	0.07470	0.1365:0.5774:0.1327:0.1535	.	812	Q2TAC6	KIF19_HUMAN	M	812	ENSP00000374566:L812M	ENSP00000374566:L812M	L	+	1	2	KIF19	69862021	0.033000	0.19621	1.000000	0.80357	0.347000	0.29111	0.700000	0.25601	0.556000	0.29098	-0.264000	0.10439	CTG		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		27	32	1	0	7.38237e-10	0.00632	9.3161e-10	27	32				
OTOP3	347741	broad.mit.edu	37	17	72937670	72937670	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:72937670G>C	ENST00000328801.4	+	2	256	c.256G>C	c.(256-258)Gct>Cct	p.A86P		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	86						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.A86P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCCAGAAGGCTGGACAACT	0.662																																							uc010wrr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)GCT>CCT		otopetrin 3							30.0	34.0	32.0					17																	72937670		2201	4294	6495	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937670G>C	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.256G>C	17.37:g.72937670G>C	ENSP00000328090:p.Ala86Pro					OTOP3_uc010wrq.1_Missense_Mutation_p.A68P	p.A86P	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			2	256	+	all_lung(278;0.151)|Lung NSC(278;0.185)		86						Missense_Mutation	SNP	ENST00000328801.4	37	c.256G>C	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674752	0.47781	.	.	ENSG00000182938	ENST00000328801	T	0.08984	3.03	4.86	4.86	0.63082	.	0.204676	0.31589	N	0.007393	T	0.19005	0.0456	L	0.57536	1.79	0.38438	D	0.946617	D	0.65815	0.995	P	0.61592	0.891	T	0.00970	-1.1496	10	0.56958	D	0.05	-13.2659	8.2054	0.31452	0.0805:0.0:0.7628:0.1567	.	86	Q7RTS5	OTOP3_HUMAN	P	86	ENSP00000328090:A86P	ENSP00000328090:A86P	A	+	1	0	OTOP3	70449265	1.000000	0.71417	0.979000	0.43373	0.278000	0.26855	3.868000	0.56055	2.230000	0.72887	0.462000	0.41574	GCT		0.662	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		10	17	0	0	0	0.008291	0	10	17				
CCDC40	55036	broad.mit.edu	37	17	78013808	78013808	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:78013808T>C	ENST00000397545.4	+	3	318	c.291T>C	c.(289-291)taT>taC	p.Y97Y	CCDC40_ENST00000374876.4_Silent_p.Y97Y|CCDC40_ENST00000269318.5_Silent_p.Y97Y|CCDC40_ENST00000374877.3_Silent_p.Y97Y	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	97					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.Y97Y(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AATATTACTATACAGAAACTT	0.512																																							uc010dht.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(289-291)TAT>TAC		coiled-coil domain containing 40							72.0	76.0	75.0					17																	78013808		1963	4151	6114	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78013808T>C	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.291T>C	17.37:g.78013808T>C						CCDC40_uc010wub.1_Silent_p.Y97Y	p.Y97Y	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	318	+	all_neural(118;0.167)		97					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.291T>C	CCDS42395.1																																																																																				0.512	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	72	0	0	0	0.000602	0	5	72				
RNF213	57674	broad.mit.edu	37	17	78357710	78357710	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:78357710C>G	ENST00000582970.1	+	59	14447	c.14304C>G	c.(14302-14304)ctC>ctG	p.L4768L	RNF213_ENST00000508628.2_Silent_p.L4817L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Silent_p.L2841L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4768					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L4817L(1)|p.L2841L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCATCCTCTGGCATTTCC	0.502																																							uc002jyh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8521-8523)CTC>CTG		ring finger protein 213							92.0	91.0	91.0					17																	78357710		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78357710C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14304C>G	17.37:g.78357710C>G						uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	p.L2841L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		34	8746	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8523C>G	CCDS58606.1																																																																																				0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		58	69	0	0	0	0.00361	0	58	69				
BAIAP2	10458	broad.mit.edu	37	17	79090043	79090043	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:79090043G>A	ENST00000321300.6	+	15	1690	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	533					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.A533T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGATCTGTCCGCCCAAGGGCC	0.632																																							uc002jzg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1597-1599)GCC>ACC		BAI1-associated protein 2 isoform 2							47.0	53.0	51.0					17																	79090043		2203	4298	6501	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79090043G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1597G>A	17.37:g.79090043G>A	ENSP00000316338:p.Ala533Thr					BAIAP2_uc002jzd.2_3'UTR|BAIAP2_uc002jzf.2_3'UTR|BAIAP2_uc002jze.2_3'UTR|BAIAP2_uc010wuh.1_3'UTR|BAIAP2_uc002jzh.2_3'UTR	p.A533T	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		15	1705	+	all_neural(118;0.101)		533					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1597G>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	0.460	-0.889455	0.02511	.	.	ENSG00000175866	ENST00000321300	T	0.23754	1.89	2.34	-4.68	0.03309	.	0.667593	0.13523	N	0.381515	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12426	-1.0548	10	0.87932	D	0	.	6.5184	0.22260	0.2305:0.4249:0.3446:0.0	.	533	Q9UQB8	BAIP2_HUMAN	T	533	ENSP00000316338:A533T	ENSP00000316338:A533T	A	+	1	0	BAIAP2	76704638	0.017000	0.18338	0.000000	0.03702	0.010000	0.07245	1.231000	0.32624	-2.457000	0.00539	-1.786000	0.00637	GCC		0.632	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			44	50	0	0	0	0.00361	0	44	50				
SMCHD1	23347	broad.mit.edu	37	18	2750424	2750424	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2750424C>T	ENST00000320876.6	+	32	4422	c.4084C>T	c.(4084-4086)Ctt>Ttt	p.L1362F	SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1362F|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1362					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.L1362F(2)|p.L1362I(2)|p.L810I(1)|p.L810F(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTAATGATTCTTCCAGACCC	0.383																																							uc002klm.3		NA																	6	Substitution - Missense(6)		large_intestine(3)|lung(3)		0						c.(4084-4086)CTT>TTT		structural maintenance of chromosomes flexible							50.0	47.0	48.0					18																	2750424		1820	4083	5903	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2750424C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4084C>T	18.37:g.2750424C>T	ENSP00000326603:p.Leu1362Phe					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.L1362F	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			32	4273	+			1362					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4084C>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130989	0.77549	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25912	1.77;1.77	5.76	5.76	0.90799	.	0.062841	0.64402	D	0.000008	T	0.51669	0.1688	M	0.65975	2.015	0.42331	D	0.992292	D	0.71674	0.998	D	0.78314	0.991	T	0.48514	-0.9029	10	0.56958	D	0.05	-19.6281	18.7372	0.91759	0.0:1.0:0.0:0.0	.	1362	A6NHR9	SMHD1_HUMAN	F	1362	ENSP00000326603:L1362F;ENSP00000261598:L1362F	ENSP00000261598:L1362F	L	+	1	0	SMCHD1	2740424	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.395000	0.66291	2.721000	0.93114	0.591000	0.81541	CTT		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			27	25	0	0	0	0.004656	0	27	25				
SMCHD1	23347	broad.mit.edu	37	18	2751313	2751313	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2751313C>T	ENST00000320876.6	+	33	4541	c.4203C>T	c.(4201-4203)atC>atT	p.I1401I	SMCHD1_ENST00000261598.8_Silent_p.I1401I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1401					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.I1401I(2)|p.I849I(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATGACAGTATCATTAAAAACA	0.338																																							uc002klm.3		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(4201-4203)ATC>ATT		structural maintenance of chromosomes flexible							77.0	72.0	74.0					18																	2751313		1825	4077	5902	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2751313C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4203C>T	18.37:g.2751313C>T						SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.I1401I	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			33	4392	+			1401					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.4203C>T	CCDS45822.1																																																																																				0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			11	36	0	0	0	0.008291	0	11	36				
LPIN2	9663	broad.mit.edu	37	18	2923837	2923837	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2923837G>A	ENST00000261596.4	-	16	2348	c.2110C>T	c.(2110-2112)Ctc>Ttc	p.L704F	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	704	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.L704F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGCTGTGGGAGAATCTGTCCC	0.483																																							uc002klo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2110-2112)CTC>TTC		lipin 2							143.0	130.0	134.0					18																	2923837		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2923837G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2110C>T	18.37:g.2923837G>A	ENSP00000261596:p.Leu704Phe						p.L704F	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	16	2349	-			704			LXXIL motif.|C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2110C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402669	0.83230	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	6.07	6.07	0.98685	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85718	0.1323	10	0.39692	T	0.17	-21.0987	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	704	Q92539	LPIN2_HUMAN	F	704	ENSP00000261596:L704F	ENSP00000261596:L704F	L	-	1	0	LPIN2	2913837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.369000	0.66138	2.884000	0.98904	0.655000	0.94253	CTC		0.483	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		53	93	0	0	0	0.00361	0	53	93				
EPB41L3	23136	broad.mit.edu	37	18	5394781	5394781	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:5394781C>G	ENST00000341928.2	-	22	3505	c.3165G>C	c.(3163-3165)caG>caC	p.Q1055H	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.Q352H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.Q833H|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Q1055H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.Q833H|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.Q360H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1055	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.Q1055H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTAATTGCCTGAGCCAGCG	0.493																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3163-3165)CAG>CAC		erythrocyte membrane protein band 4.1-like 3							159.0	135.0	143.0					18																	5394781		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394781C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3165G>C	18.37:g.5394781C>G	ENSP00000343158:p.Gln1055His					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q833H|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q724H|EPB41L3_uc002kms.1_Missense_Mutation_p.Q290H|EPB41L3_uc010wze.1_Missense_Mutation_p.Q360H|EPB41L3_uc010wzf.1_Missense_Mutation_p.Q352H|EPB41L3_uc010wzg.1_Missense_Mutation_p.Q327H|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q447H	p.Q1055H	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			22	3251	-			1055			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3165G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482567	0.84747	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.996;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.997;0.999;0.998;0.973;0.999;0.995	D	0.90480	0.4459	10	0.72032	D	0.01	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	352;360;447;724;833;1055;290	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	H	1055;724;724;352;360;1055;833	ENSP00000343158:Q1055H;ENSP00000392195:Q352H;ENSP00000442233:Q360H;ENSP00000341138:Q1055H;ENSP00000382981:Q833H	ENSP00000343158:Q1055H	Q	-	3	2	EPB41L3	5384781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.022000	0.57203	2.767000	0.95098	0.655000	0.94253	CAG		0.493	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		4	159	0	0	0	0.009096	0	4	159				
MTCL1	23255	broad.mit.edu	37	18	8783844	8783844	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:8783844A>T	ENST00000306329.11	+	5	1814	c.1814A>T	c.(1813-1815)cAg>cTg	p.Q605L	SOGA2_ENST00000359865.3_Missense_Mutation_p.Q245L|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q245L|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q245L														p.Q245L(1)									ATGCGGGGCCAGCAGGAGCGG	0.657																																							uc002knr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CAG>CTG		hypothetical protein LOC23255							33.0	33.0	33.0					18																	8783844		2201	4294	6495	SO:0001583	missense	23255							g.chr18:8783844A>T																												ENST00000306329.11:c.1814A>T	18.37:g.8783844A>T	ENSP00000305027:p.Gln605Leu					KIAA0802_uc002knq.2_Missense_Mutation_p.Q245L|KIAA0802_uc010dkw.1_Missense_Mutation_p.Q83L	p.Q245L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	876	+			596			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.734A>T		.	.	.	.	.	.	.	.	.	.	A	10.87	1.472355	0.26423	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.15372	2.43;2.46;2.43	5.55	5.55	0.83447	.	0.663428	0.13707	N	0.368394	T	0.44664	0.1304	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.22591	-1.0212	10	0.52906	T	0.07	-36.3967	15.6865	0.77415	1.0:0.0:0.0:0.0	.	266;245	A8MQ54;Q9Y4B5-3	.;.	L	266;245;245;245	ENSP00000429556:Q245L;ENSP00000352927:Q245L;ENSP00000382924:Q245L	ENSP00000305027:Q266L	Q	+	2	0	CCDC165	8773844	1.000000	0.71417	0.216000	0.23742	0.502000	0.33828	9.238000	0.95380	2.121000	0.65114	0.454000	0.30748	CAG		0.657	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			32	36	0	0	0	0.003755	0	32	36				
RNMT	8731	broad.mit.edu	37	18	13734586	13734586	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:13734586A>T	ENST00000383314.2	+	4	781	c.541A>T	c.(541-543)Agt>Tgt	p.S181C	RNMT_ENST00000262173.3_Missense_Mutation_p.S181C|RNMT_ENST00000589866.1_Missense_Mutation_p.S181C|RNMT_ENST00000543302.2_Missense_Mutation_p.S181C|RNMT_ENST00000592764.1_Missense_Mutation_p.S181C|RNMT_ENST00000535051.1_5'UTR			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	181	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.S181C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTGGATGAAAAGTGTTCTCAT	0.353																																					GBM(29;474 594 19092 36647 41529)	GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(541-543)AGT>TGT		RNA (guanine-7-) methyltransferase							83.0	86.0	85.0					18																	13734586		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13734586A>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.541A>T	18.37:g.13734586A>T	ENSP00000372804:p.Ser181Cys					RNMT_uc002ksl.1_Missense_Mutation_p.S181C|RNMT_uc002ksm.1_Missense_Mutation_p.S181C|RNMT_uc010dlk.2_Missense_Mutation_p.S181C|RNMT_uc010xae.1_RNA	p.S181C	NM_003799	NP_003790	O43148	MCES_HUMAN			3	608	+			181					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.541A>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773024	0.90108	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86130	0.5859	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89318	0.3638	9	0.72032	D	0.01	-25.054	16.3317	0.83023	1.0:0.0:0.0:0.0	.	181;181	O43148-2;O43148	.;MCES_HUMAN	C	181;181;3;181	.	ENSP00000262173:S181C	S	+	1	0	RNMT	13724586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.458000	0.90364	2.264000	0.75181	0.533000	0.62120	AGT		0.353	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		20	96	0	0	0	0.008871	0	20	96				
AQP4	361	broad.mit.edu	37	18	24445623	24445623	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:24445623C>T	ENST00000383168.4	-	1	159	c.31G>A	c.(31-33)Ggt>Agt	p.G11S	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4_ENST00000581374.1_5'Flank|AQP4-AS1_ENST00000568797.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	11					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.G11S(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGACTTACCCCCACCGCCTT	0.517																																							uc002kwa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GGT>AGT		aquaporin 4 isoform a							122.0	124.0	123.0					18																	24445623		2203	4300	6503	SO:0001630	splice_region_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445623C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.32+1G>A	18.37:g.24445623C>T						C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron	p.G11S	NM_001650	NP_001641	P55087	AQP4_HUMAN			1	94	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		11			Cytoplasmic (Potential).		P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.31G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274253	0.59649	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85411	-1.98	4.8	4.8	0.61643	.	0.914040	0.09454	N	0.800028	T	0.77565	0.4149	N	0.20685	0.6	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63695	-0.6579	10	0.12103	T	0.63	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	11	P55087	AQP4_HUMAN	S	11;11;18	ENSP00000372654:G11S	ENSP00000372654:G11S	G	-	1	0	AQP4	22699621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.997000	0.49457	2.603000	0.88011	0.655000	0.94253	GGT		0.517	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028	Missense_Mutation	37	137	0	0	0	0.00874	0	37	137				
DSG3	1830	broad.mit.edu	37	18	29052319	29052319	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:29052319C>A	ENST00000257189.4	+	13	2053	c.1970C>A	c.(1969-1971)cCa>cAa	p.P657Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	657					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)	p.P657Q(1)		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)			GGTTTTATCCCAGTTCCTGAT	0.458																																							uc002kws.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1969-1971)CCA>CAA		desmoglein 3 preproprotein							107.0	110.0	109.0					18																	29052319		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052319C>A	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.1970C>A	18.37:g.29052319C>A	ENSP00000257189:p.Pro657Gln					DSG3_uc002kwt.2_5'Flank	p.P657Q	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2079	+			657			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1970C>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576552	0.86645	.	.	ENSG00000134757	ENST00000257189	T	0.64260	-0.09	5.73	5.73	0.89815	.	0.000000	0.48767	D	0.000166	T	0.81351	0.4804	M	0.81802	2.56	0.46416	D	0.999032	D	0.89917	1.0	D	0.77557	0.99	T	0.81942	-0.0702	10	0.56958	D	0.05	.	19.9134	0.97033	0.0:1.0:0.0:0.0	.	657	P32926	DSG3_HUMAN	Q	657	ENSP00000257189:P657Q	ENSP00000257189:P657Q	P	+	2	0	DSG3	27306317	0.124000	0.22315	1.000000	0.80357	0.921000	0.55340	3.566000	0.53805	2.708000	0.92522	0.467000	0.42956	CCA		0.458	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		32	57	1	0	2.81731e-10	0.002096	3.58642e-10	32	57				
CELF4	56853	broad.mit.edu	37	18	34854794	34854794	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:34854794C>G	ENST00000591282.1	-	5	630	c.631G>C	c.(631-633)Gcg>Ccg	p.A211P	CELF4_ENST00000420428.2_Missense_Mutation_p.A211P|CELF4_ENST00000591287.1_Missense_Mutation_p.A210P|CELF4_ENST00000603232.1_Missense_Mutation_p.A211P|CELF4_ENST00000412753.1_Missense_Mutation_p.A211P|CELF4_ENST00000361795.5_Missense_Mutation_p.A210P|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.A201P|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.A210P|CELF4_ENST00000588597.1_Missense_Mutation_p.A200P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	211	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A211P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGTGTAGCGCGTTGATGGCG	0.741																																							uc002lae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)GCG>CCG		bruno-like 4, RNA binding protein isoform 1							9.0	9.0	9.0					18																	34854794		2130	4166	6296	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854794C>G	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.631G>C	18.37:g.34854794C>G	ENSP00000464794:p.Ala211Pro					CELF4_uc010dnd.1_Missense_Mutation_p.A210P|CELF4_uc002lag.2_Missense_Mutation_p.A201P|CELF4_uc002laf.2_Missense_Mutation_p.A206P|CELF4_uc002lai.2_Missense_Mutation_p.A196P|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank	p.A211P	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			5	1027	-			211			Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.631G>C	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860029	0.71834	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.19105	2.17;2.17	4.2	2.38	0.29361	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.114641	0.64402	D	0.000016	T	0.44726	0.1307	M	0.89785	3.06	0.58432	D	0.999996	B;D;D;D;D	0.71674	0.052;0.986;0.998;0.96;0.968	B;P;P;P;P	0.59546	0.021;0.751;0.859;0.536;0.667	T	0.48210	-0.9055	10	0.87932	D	0	-3.5957	8.687	0.34243	0.1511:0.7689:0.0:0.0799	.	210;200;201;210;211	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	P	211;211;210;201;94	ENSP00000406823:A211P;ENSP00000335631:A201P	ENSP00000335631:A201P	A	-	1	0	CELF4	33108792	0.661000	0.27430	0.875000	0.34327	0.483000	0.33249	1.549000	0.36212	0.516000	0.28340	-0.169000	0.13324	GCG		0.741	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		3	6	0	0	0	0.009096	0	3	6				
CELF4	56853	broad.mit.edu	37	18	34855077	34855077	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:34855077C>A	ENST00000591282.1	-	4	577		c.e4+1		CELF4_ENST00000420428.2_Splice_Site|CELF4_ENST00000591287.1_Splice_Site|CELF4_ENST00000603232.1_Splice_Site|CELF4_ENST00000412753.1_Splice_Site|CELF4_ENST00000361795.5_Splice_Site|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Splice_Site|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Splice_Site|CELF4_ENST00000588597.1_Splice_Site			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4						alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCCCGCGCACCCTTGCTGTT	0.697																																							uc002lae.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e4+1		bruno-like 4, RNA binding protein isoform 1							39.0	44.0	42.0					18																	34855077		2202	4300	6502	SO:0001630	splice_region_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34855077C>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.577+1G>T	18.37:g.34855077C>A						CELF4_uc010dnd.1_Splice_Site_p.G192_splice|CELF4_uc002lag.2_Splice_Site_p.G183_splice|CELF4_uc002laf.2_Splice_Site_p.G188_splice|CELF4_uc002lai.2_Splice_Site_p.G178_splice|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank	p.G193_splice	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			4	973	-								Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Splice_Site	SNP	ENST00000591282.1	37	c.577_splice	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080122	0.76528	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	.	.	.	5.0	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1354	0.48370	0.0:0.8483:0.0:0.1517	.	.	.	.	.	-1	.	.	.	-	.	.	CELF4	33109075	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.025000	0.70864	1.231000	0.43661	0.655000	0.94253	.		0.697	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	Intron	5	60	1	0	0.000602214	0.000602	0.000653961	5	60				
MYO5B	4645	broad.mit.edu	37	18	47429071	47429071	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:47429071C>T	ENST00000285039.7	-	21	3003	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E43K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	902	Arg-rich.|IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.E902K(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCTTCAGCTCCCGCCTGGCC	0.622																																							uc002leb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2704-2706)GAG>AAG		myosin VB							55.0	60.0	59.0					18																	47429071		2016	4164	6180	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47429071C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2704G>A	18.37:g.47429071C>T	ENSP00000285039:p.Glu902Lys					MYO5B_uc002lea.2_Missense_Mutation_p.E43K	p.E902K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	2992	-			902			Potential.|IQ 6.|Arg-rich.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2704G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135824	0.37728	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.26067	1.76;1.76	5.63	4.76	0.60689	.	0.411971	0.27072	N	0.021069	T	0.26666	0.0652	L	0.56124	1.755	0.46167	D	0.998905	B;B	0.16603	0.012;0.018	B;B	0.26310	0.068;0.024	T	0.04664	-1.0935	10	0.40728	T	0.16	.	10.928	0.47201	0.0:0.7975:0.1308:0.0718	.	902;43	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	K	902;43	ENSP00000285039:E902K;ENSP00000315531:E43K	ENSP00000285039:E902K	E	-	1	0	MYO5B	45683069	0.030000	0.19436	0.642000	0.29436	0.424000	0.31475	0.187000	0.16998	1.521000	0.48983	0.655000	0.94253	GAG		0.622	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			15	37	0	0	0	0.003163	0	15	37				
MAPK4	5596	broad.mit.edu	37	18	48252469	48252469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:48252469G>T	ENST00000400384.2	+	5	2027	c.991G>T	c.(991-993)Gag>Tag	p.E331*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E120*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	331					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.E331*(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTTCCGCATTGAGGATGAGAT	0.597																																							uc002lev.2		NA																	1	Substitution - Nonsense(1)	p.E331D(1)	lung(1)	lung(4)|skin(2)	6						c.(991-993)GAG>TAG		mitogen-activated protein kinase 4							108.0	109.0	109.0					18																	48252469		2116	4228	6344	SO:0001587	stop_gained	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252469G>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.991G>T	18.37:g.48252469G>T	ENSP00000383234:p.Glu331*					MAPK4_uc010xdm.1_Nonsense_Mutation_p.E120*|MAPK4_uc010doz.2_Intron	p.E331*	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1991	+		Colorectal(6;0.0297)	331					A1A4C4|Q0VG04	Nonsense_Mutation	SNP	ENST00000400384.2	37	c.991G>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	37	6.447223	0.97572	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5474	16.9072	0.86131	0.0:0.0:1.0:0.0	.	.	.	.	X	331;120	.	ENSP00000383234:E331X	E	+	1	0	MAPK4	46506467	1.000000	0.71417	0.976000	0.42696	0.935000	0.57460	9.843000	0.99491	2.292000	0.77174	0.655000	0.94253	GAG		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		5	58	1	0	0.000602214	0.000602	0.000653961	5	58				
MAPK4	5596	broad.mit.edu	37	18	48252472	48252472	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:48252472G>T	ENST00000400384.2	+	5	2030	c.994G>T	c.(994-996)Gat>Tat	p.D332Y	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.D121Y	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	332					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D332Y(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCGCATTGAGGATGAGATCGA	0.607																																							uc002lev.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)	6						c.(994-996)GAT>TAT		mitogen-activated protein kinase 4							106.0	107.0	107.0					18																	48252472		2119	4234	6353	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252472G>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.994G>T	18.37:g.48252472G>T	ENSP00000383234:p.Asp332Tyr					MAPK4_uc010xdm.1_Missense_Mutation_p.D121Y|MAPK4_uc010doz.2_Intron	p.D332Y	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1994	+		Colorectal(6;0.0297)	332					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.994G>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498149	0.85069	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.73575	-0.76;1.02	4.92	4.92	0.64577	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000011	D	0.83547	0.5278	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.81986	-0.0681	10	0.31617	T	0.26	-24.5557	16.9072	0.86131	0.0:0.0:1.0:0.0	.	332	P31152	MK04_HUMAN	Y	332;121	ENSP00000383234:D332Y;ENSP00000439231:D121Y	ENSP00000383234:D332Y	D	+	1	0	MAPK4	46506470	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	9.843000	0.99491	2.292000	0.77174	0.655000	0.94253	GAT		0.607	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		6	55	1	0	0.00116845	0.001168	0.00125944	6	55				
MBP	4155	broad.mit.edu	37	18	74701954	74701954	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:74701954C>A	ENST00000397869.3	-	2	286	c.240G>T	c.(238-240)cgG>cgT	p.R80R	MBP_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Silent_p.R106R|MBP_ENST00000354542.4_Intron|MBP_ENST00000578193.1_Silent_p.R80R|MBP_ENST00000579129.1_Silent_p.R213R|MBP_ENST00000526111.1_Silent_p.R58R|MBP_ENST00000355994.2_Silent_p.R213R|MBP_ENST00000527041.1_Intron|MBP_ENST00000397866.4_Silent_p.R80R|MBP_ENST00000359645.3_Silent_p.R106R|MBP_ENST00000580402.1_Silent_p.R213R|MBP_ENST00000397865.5_Silent_p.R80R|MBP_ENST00000397875.3_Silent_p.R80R			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.R213R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CATCTTGGGTCCGGCCGTGTG	0.577																																					NSCLC(17;72 1131 19392)	NSCLC(17;72 1131 19392)	uc010xfd.1		NA																	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(637-639)CGG>CGT		Golli-mbp isoform 1							166.0	151.0	156.0					18																	74701954		2203	4300	6503	SO:0001819	synonymous_variant	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74701954C>A		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.240G>T	18.37:g.74701954C>A						MBP_uc002lml.2_Silent_p.R106R|MBP_uc002lmn.2_Silent_p.R106R|MBP_uc002lmp.2_Silent_p.R80R|MBP_uc010xfe.1_Silent_p.R80R|MBP_uc010dqz.2_5'Flank	p.R213R	NM_001025101	NP_001020272	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	5	903	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	213			Induces experimental autoimmune encephalomyelitis (EAE) 1.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	37	c.639G>T																																																																																					0.577	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		19	69	1	0	2.94398e-08	0.007413	3.57542e-08	19	69				
MADCAM1	8174	broad.mit.edu	37	19	498565	498565	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:498565C>G	ENST00000215637.3	+	3	453	c.407C>G	c.(406-408)gCc>gGc	p.A136G	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A136G|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A41G|MADCAM1_ENST00000587541.1_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	136	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)	p.A136G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		GCCTGTACGGCCCACAAAGTC	0.706																																							uc002los.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)GCC>GGC		mucosal vascular addressin cell adhesion							26.0	31.0	30.0					19																	498565		2202	4298	6500	SO:0001583	missense	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498565C>G	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.407C>G	19.37:g.498565C>G	ENSP00000215637:p.Ala136Gly					MADCAM1_uc002lot.2_Missense_Mutation_p.A136G|MADCAM1_uc010drq.2_Missense_Mutation_p.A41G	p.A136G	NM_130760	NP_570116	Q13477	MADCA_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)	3	417	+		all_cancers(10;4.25e-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)	136			Extracellular (Potential).|Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	c.407C>G	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268684	0.40095	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.17691	2.6;2.26	4.06	3.02	0.34903	Adhesion molecule, immunoglobulin-like (2);Immunoglobulin-like fold (1);	0.140225	0.46758	D	0.000269	T	0.18800	0.0451	L	0.36672	1.1	0.29577	N	0.84944	P;P;P	0.41569	0.755;0.548;0.755	P;P;P	0.48524	0.58;0.457;0.58	T	0.03534	-1.1027	10	0.87932	D	0	-26.5141	7.8199	0.29282	0.0:0.8835:0.0:0.1165	.	41;136;136	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	G	136;136;136;136;136;41	ENSP00000215637:A136G;ENSP00000304247:A136G	ENSP00000215637:A136G	A	+	2	0	MADCAM1	449565	0.127000	0.22367	0.978000	0.43139	0.038000	0.13279	1.170000	0.31883	0.944000	0.37579	-0.221000	0.12465	GCC		0.706	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		5	9	0	0	0	0.000602	0	5	9				
MADCAM1	8174	broad.mit.edu	37	19	498569	498569	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:498569C>A	ENST00000215637.3	+	3	457	c.411C>A	c.(409-411)caC>caA	p.H137Q	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Missense_Mutation_p.H137Q|MADCAM1_ENST00000382683.4_Missense_Mutation_p.H42Q|MADCAM1_ENST00000587541.1_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	137	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)	p.H137Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		GTACGGCCCACAAAGTCACGC	0.711																																							uc002los.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(409-411)CAC>CAA		mucosal vascular addressin cell adhesion							26.0	31.0	29.0					19																	498569		2202	4298	6500	SO:0001583	missense	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498569C>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.411C>A	19.37:g.498569C>A	ENSP00000215637:p.His137Gln					MADCAM1_uc002lot.2_Missense_Mutation_p.H137Q|MADCAM1_uc010drq.2_Missense_Mutation_p.H42Q	p.H137Q	NM_130760	NP_570116	Q13477	MADCA_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)	3	421	+		all_cancers(10;4.25e-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)	137			Extracellular (Potential).|Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	c.411C>A	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216385	0.39201	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.14516	2.87;2.5	4.06	2.96	0.34315	Adhesion molecule, immunoglobulin-like (2);Immunoglobulin-like fold (1);	0.619884	0.16046	N	0.232169	T	0.20495	0.0493	L	0.34521	1.04	0.27254	N	0.958821	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74348	0.983;0.963;0.97	T	0.05683	-1.0870	10	0.23891	T	0.37	-30.221	8.0063	0.30327	0.2637:0.7363:0.0:0.0	.	42;137;137	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	Q	137;137;137;137;137;42	ENSP00000215637:H137Q;ENSP00000304247:H137Q	ENSP00000215637:H137Q	H	+	3	2	MADCAM1	449569	0.001000	0.12720	0.986000	0.45419	0.046000	0.14306	0.077000	0.14738	2.113000	0.64589	0.561000	0.74099	CAC		0.711	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		4	9	1	0	0.00909568	0.009096	0.00956747	4	9				
BSG	682	broad.mit.edu	37	19	581345	581345	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:581345T>G	ENST00000333511.3	+	6	893	c.823T>G	c.(823-825)Ttc>Gtc	p.F275V	BSG_ENST00000353555.4_Missense_Mutation_p.F159V|BSG_ENST00000545507.2_Missense_Mutation_p.F66V|BSG_ENST00000346916.4_Missense_Mutation_p.F95V	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	275	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)	p.F95V(1)|p.F275V(1)		central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GAGCAGGTTCTTCGTGAGTTC	0.637																																							uc002loz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(823-825)TTC>GTC		basigin isoform 1 precursor							62.0	65.0	64.0					19																	581345		2203	4300	6503	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:581345T>G	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.823T>G	19.37:g.581345T>G	ENSP00000333769:p.Phe275Val					BSG_uc002loy.2_Missense_Mutation_p.F95V|BSG_uc002lpa.2_Missense_Mutation_p.F159V|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.F159V|BSG_uc002lpc.2_Missense_Mutation_p.F322V|BSG_uc002lpd.2_5'Flank	p.F275V	NM_001728	NP_001719	P35613	BASI_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)	6	921	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	275			Extracellular (Potential).|Ig-like V-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.823T>G	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	T	1.178	-0.638881	0.03557	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.65549	-0.16;-0.16;-0.16	3.43	-4.57	0.03421	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.376090	0.04930	N	0.456634	T	0.42131	0.1189	N	0.21583	0.68	0.09310	N	1	B;B;B;B;B	0.21452	0.045;0.019;0.056;0.019;0.056	B;B;B;B;B	0.24155	0.014;0.024;0.024;0.024;0.051	T	0.22103	-1.0226	10	0.14656	T	0.56	-12.8723	6.5566	0.22464	0.1206:0.091:0.6078:0.1806	.	159;275;159;275;95	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	V	95;66;275;159	ENSP00000344707:F95V;ENSP00000333769:F275V;ENSP00000343809:F159V	ENSP00000333769:F275V	F	+	1	0	BSG	532345	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.217000	0.01220	-1.181000	0.02730	0.379000	0.24179	TTC		0.637	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		8	56	0	0	0	0.004482	0	8	56				
ABCA7	10347	broad.mit.edu	37	19	1049420	1049420	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:1049420G>T	ENST00000263094.6	+	18	2767	c.2536G>T	c.(2536-2538)Ggc>Tgc	p.G846C	ABCA7_ENST00000433129.1_Missense_Mutation_p.G846C|ABCA7_ENST00000435683.2_Missense_Mutation_p.G708C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	846	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.G846C(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGGGGCCGGCAAGACCAC	0.716																																							uc002lqw.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2536-2538)GGC>TGC		ATP-binding cassette, sub-family A, member 7							24.0	28.0	27.0					19																	1049420		2195	4281	6476	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049420G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2536G>T	19.37:g.1049420G>T	ENSP00000263094:p.Gly846Cys					ABCA7_uc010dsb.1_Missense_Mutation_p.G708C	p.G846C	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	18	2767	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	846			ATP 1 (Potential).|ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.2536G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676704	0.67928	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.99751	-6.63;-6.63	4.02	4.02	0.46733	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.99894	0.9949	H	0.99668	4.69	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95911	0.8923	9	0.87932	D	0	.	15.0551	0.71908	0.0:0.0:1.0:0.0	.	708;846	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	C	846	ENSP00000263094:G846C;ENSP00000414062:G846C	ENSP00000263094:G846C	G	+	1	0	ABCA7	1000420	1.000000	0.71417	0.964000	0.40570	0.599000	0.36880	9.587000	0.98229	1.959000	0.56917	0.462000	0.41574	GGC		0.716	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		11	24	1	0	3.07112e-06	0.000978	3.54235e-06	11	24				
POLR2E	5434	broad.mit.edu	37	19	1091841	1091841	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:1091841T>A	ENST00000215587.7	-	3	581	c.298A>T	c.(298-300)Aca>Tca	p.T100S	POLR2E_ENST00000586746.1_Missense_Mutation_p.T100S|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	100					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.T100S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCCGTGTGATGTTCTCC	0.652																																							uc002lre.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)ACA>TCA		DNA directed RNA polymerase II polypeptide E							169.0	133.0	145.0					19																	1091841		2203	4300	6503	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1091841T>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.298A>T	19.37:g.1091841T>A	ENSP00000215587:p.Thr100Ser					POLR2E_uc010xgf.1_RNA	p.T100S	NM_002695	NP_002686	P19388	RPAB1_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)	3	375	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	100					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.298A>T	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	T	9.219	1.032886	0.19590	.	.	ENSG00000099817	ENST00000215587	T	0.39997	1.05	3.75	3.75	0.43078	RNA polymerase, Rpb5, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.05280	-0.08	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.05566	-1.0877	10	0.20046	T	0.44	-2.4868	11.8287	0.52282	0.0:0.0:0.0:1.0	.	100	P19388	RPAB1_HUMAN	S	100	ENSP00000215587:T100S	ENSP00000215587:T100S	T	-	1	0	POLR2E	1042841	1.000000	0.71417	0.985000	0.45067	0.695000	0.40330	7.020000	0.76419	1.589000	0.49982	0.454000	0.30748	ACA		0.652	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		33	37	0	0	0	0.003271	0	33	37				
ZNF556	80032	broad.mit.edu	37	19	2878065	2878065	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:2878065A>G	ENST00000307635.2	+	4	1196	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	ZNF556_ENST00000586426.1_Missense_Mutation_p.Y369C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y370C(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGAAAGTCTATAAATGTGAA	0.478																																							uc002lwp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1108-1110)TAT>TGT		zinc finger protein 556							71.0	65.0	67.0					19																	2878065		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878065A>G	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1109A>G	19.37:g.2878065A>G	ENSP00000302603:p.Tyr370Cys					ZNF556_uc002lwq.2_Missense_Mutation_p.Y369C	p.Y370C	NM_024967	NP_079243	Q9HAH1	ZN556_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)	4	1196	+			370			C2H2-type 8.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1109A>G	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586139	0.46110	.	.	ENSG00000172000	ENST00000307635	T	0.61392	0.11	2.3	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71617	0.3361	M	0.79926	2.475	0.25828	N	0.984208	D	0.89917	1.0	D	0.81914	0.995	T	0.57476	-0.7805	9	0.87932	D	0	.	5.5522	0.17097	0.7566:0.0:0.0:0.2434	.	370	Q9HAH1	ZN556_HUMAN	C	370	ENSP00000302603:Y370C	ENSP00000302603:Y370C	Y	+	2	0	ZNF556	2829065	0.001000	0.12720	0.028000	0.17463	0.190000	0.23558	0.381000	0.20619	0.902000	0.36520	0.334000	0.21626	TAT		0.478	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		13	22	0	0	0	0.001368	0	13	22				
PLIN4	729359	broad.mit.edu	37	19	4511819	4511819	+	Missense_Mutation	SNP	C	C	G	rs375329891		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:4511819C>G	ENST00000301286.3	-	3	2110	c.2111G>C	c.(2110-2112)aGt>aCt	p.S704T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	704	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.S632T(1)|p.S704T(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTGTCCACACTGGTCTGGAC	0.607																																							uc002mar.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2110-2112)AGT>ACT		plasma membrane associated protein, S3-12							258.0	276.0	270.0					19																	4511819		2148	4254	6402	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511819C>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2111G>C	19.37:g.4511819C>G	ENSP00000301286:p.Ser704Thr					PLIN4_uc010dub.1_5'Flank	p.S704T	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2111	-			704			19.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2111G>C	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486167	0.26686	.	.	ENSG00000167676	ENST00000301286	T	0.03553	3.89	4.87	4.87	0.63330	.	0.000000	0.46442	D	0.000291	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44452	-0.9327	10	0.87932	D	0	-14.7205	16.5568	0.84487	0.0:1.0:0.0:0.0	.	704	Q96Q06	PLIN4_HUMAN	T	704	ENSP00000301286:S704T	ENSP00000301286:S704T	S	-	2	0	PLIN4	4462819	0.000000	0.05858	0.017000	0.16124	0.003000	0.03518	0.439000	0.21575	2.248000	0.74166	0.185000	0.17295	AGT		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		4	377	0	0	0	0.000602	0	4	377				
PLIN4	729359	broad.mit.edu	37	19	4517573	4517573	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:4517573C>T	ENST00000301286.3	-	1	143	c.144G>A	c.(142-144)caG>caA	p.Q48Q		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	48						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.Q48Q(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACCCTGAGCCTGTGGTTGGG	0.701																																							uc002mar.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CAG>CAA		plasma membrane associated protein, S3-12							11.0	14.0	13.0					19																	4517573		1913	4073	5986	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4517573C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.144G>A	19.37:g.4517573C>T							p.Q48Q	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			1	144	-			48					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.144G>A	CCDS45927.1																																																																																				0.701	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		7	10	0	0	0	0.001984	0	7	10				
INSR	3643	broad.mit.edu	37	19	7184418	7184418	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:7184418T>A	ENST00000302850.5	-	3	1025	c.883A>T	c.(883-885)Aac>Tac	p.N295Y	INSR_ENST00000341500.5_Missense_Mutation_p.N295Y	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	295	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.N295Y(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTCCGCGAGTTCTTGCATTTG	0.577																																							uc002mgd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(883-885)AAC>TAC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						89.0	71.0	77.0					19																	7184418		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7184418T>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.883A>T	19.37:g.7184418T>A	ENSP00000303830:p.Asn295Tyr					INSR_uc002mge.1_Missense_Mutation_p.N295Y|INSR_uc002mgf.2_Missense_Mutation_p.N295Y	p.N295Y	NM_000208	NP_000199	P06213	INSR_HUMAN			3	992	-			295			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.883A>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243019	0.39697	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97710	-4.5;-4.5	5.22	5.22	0.72569	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.125201	0.35615	N	0.003096	D	0.96491	0.8855	M	0.62723	1.935	0.52501	D	0.999958	B;P;D	0.53885	0.23;0.77;0.963	B;B;P	0.45506	0.127;0.209;0.483	D	0.95411	0.8498	10	0.33141	T	0.24	.	13.0764	0.59089	0.0:0.0:0.0:1.0	.	286;295;295	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	Y	295	ENSP00000303830:N295Y;ENSP00000342838:N295Y	ENSP00000303830:N295Y	N	-	1	0	INSR	7135418	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.794000	0.55492	1.969000	0.57287	0.533000	0.62120	AAC		0.577	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			18	24	0	0	0	0.006122	0	18	24				
MUC16	94025	broad.mit.edu	37	19	9062533	9062533	+	Missense_Mutation	SNP	C	C	A	rs534840607		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9062533C>A	ENST00000397910.4	-	3	25116	c.24913G>T	c.(24913-24915)Gtg>Ttg	p.V8305L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8307	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V8305L(2)|p.V3938L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTATCACCAGGCCAGGG	0.502																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24913-24915)GTG>TTG		mucin 16							93.0	88.0	90.0					19																	9062533		1952	4150	6102	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062533C>A	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.24913G>T	19.37:g.9062533C>A	ENSP00000381008:p.Val8305Leu						p.V8305L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25117	-			8307			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24913G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.058	0.565793	0.13560	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.78	-5.56	0.02529	.	.	.	.	.	T	0.12561	0.0305	L	0.28115	0.83	.	.	.	B	0.12630	0.006	B	0.10450	0.005	T	0.31971	-0.9924	8	0.87932	D	0	.	0.122	0.00065	0.3441:0.1668:0.2233:0.2657	.	8305	B5ME49	.	L	8305	ENSP00000381008:V8305L	ENSP00000381008:V8305L	V	-	1	0	MUC16	8923533	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.537000	0.02206	-1.581000	0.01642	0.385000	0.25706	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	57	1	0	6.90743e-12	0.003755	9.05756e-12	35	57				
OR7G1	125962	broad.mit.edu	37	19	9226066	9226066	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9226066G>T	ENST00000541538.1	-	1	373	c.374C>A	c.(373-375)gCc>gAc	p.A125D	OR7G1_ENST00000293614.1_Missense_Mutation_p.A125D	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTGGCAAATGGCCACATAGCG	0.498																																							uc002mks.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(373-375)GCC>GAC		olfactory receptor, family 7, subfamily G,							118.0	116.0	116.0					19																	9226066		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226066G>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.374C>A	19.37:g.9226066G>T	ENSP00000444134:p.Ala125Asp						p.A125D	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN			1	374	-			125			Cytoplasmic (Potential).		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.374C>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	-	16.17	3.048717	0.55110	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.01234	5.13;5.13	3.76	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.193901	0.24823	U	0.035308	T	0.18341	0.0440	H	0.99897	4.91	0.36191	D	0.850068	D	0.89917	1.0	D	0.72982	0.979	T	0.52786	-0.8529	10	0.87932	D	0	.	11.4395	0.50088	0.0:0.0:0.8188:0.1812	.	125	Q8NGA0	OR7G1_HUMAN	D	125	ENSP00000293614:A125D;ENSP00000444134:A125D	ENSP00000293614:A125D	A	-	2	0	OR7G1	9087066	1.000000	0.71417	0.996000	0.52242	0.304000	0.27724	6.494000	0.73661	2.083000	0.62718	0.487000	0.48397	GCC		0.498	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			37	51	1	0	9.17885e-22	0.003271	1.35891e-21	37	51				
ZNF560	147741	broad.mit.edu	37	19	9581105	9581105	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9581105A>G	ENST00000301480.4	-	7	624	c.411T>C	c.(409-411)gaT>gaC	p.D137D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	137	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D137D(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCAGCATCACATCACTGTACA	0.458																																							uc002mlp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(409-411)GAT>GAC		zinc finger protein 560							185.0	156.0	166.0					19																	9581105		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9581105A>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.411T>C	19.37:g.9581105A>G						ZNF560_uc010dwr.1_Silent_p.D31D	p.D137D	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			7	621	-			137			KRAB 2.		Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.411T>C	CCDS12214.1																																																																																				0.458	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		34	53	0	0	0	0.004289	0	34	53				
EMR2	30817	broad.mit.edu	37	19	14877104	14877104	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:14877104G>T	ENST00000315576.3	-	7	1028	c.577C>A	c.(577-579)Ccg>Acg	p.P193T	EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.P193T|EMR2_ENST00000596991.2_Missense_Mutation_p.P193T|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.P193T|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000392967.2_Missense_Mutation_p.P193T|EMR2_ENST00000595839.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	193	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.P193T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCCAGCCCGGGCGGCAGCGG	0.582																																							uc002mzp.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(577-579)CCG>ACG		egf-like module containing, mucin-like, hormone							82.0	87.0	85.0					19																	14877104		2203	4296	6499	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877104G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.577C>A	19.37:g.14877104G>T	ENSP00000319883:p.Pro193Thr					EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.P193T|EMR2_uc002mzo.1_Missense_Mutation_p.P193T|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	p.P193T	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			7	1033	-			193			EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.577C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805557	0.16467	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000360222;ENST00000392965	D;D;D	0.92099	-2.97;-2.97;-2.97	3.04	3.04	0.35103	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92361	0.7576	L	0.47190	1.495	0.09310	N	1	D;B;B	0.62365	0.991;0.038;0.101	P;B;B	0.60286	0.872;0.034;0.039	D	0.83846	0.0260	9	0.33141	T	0.24	.	9.9728	0.41765	0.0:0.0:1.0:0.0	.	193;193;193	E7ESD7;Q9UHX3;Q9UHX3-2	.;EMR2_HUMAN;.	T	193	ENSP00000319883:P193T;ENSP00000376694:P193T;ENSP00000376692:P193T	ENSP00000319883:P193T	P	-	1	0	EMR2	14738104	0.020000	0.18652	0.026000	0.17262	0.012000	0.07955	0.880000	0.28159	2.027000	0.59764	0.494000	0.49563	CCG		0.582	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			54	76	1	0	9.59449e-18	0.00361	1.36483e-17	54	76				
WIZ	58525	broad.mit.edu	37	19	15535040	15535040	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:15535040T>C	ENST00000389282.4	-	9	4963	c.4750A>G	c.(4750-4752)Aca>Gca	p.T1584A	WIZ_ENST00000599910.2_Missense_Mutation_p.T901A|WIZ_ENST00000545156.1_Missense_Mutation_p.T898A|WIZ_ENST00000599686.3_Missense_Mutation_p.T768A|WIZ_ENST00000263381.7_Missense_Mutation_p.T727A			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1584					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T1584A(1)|p.T727A(1)|p.T898A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACAAGTGATGTCTGGGGGGGC	0.647																																							uc002nbc.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(2701-2703)ACA>GCA		widely-interspaced zinc finger motifs							20.0	21.0	21.0					19																	15535040		1876	4103	5979	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535040T>C	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4750A>G	19.37:g.15535040T>C	ENSP00000373933:p.Thr1584Ala					WIZ_uc002nba.3_Missense_Mutation_p.T768A|WIZ_uc002nbb.3_Missense_Mutation_p.T727A	p.T901A	NM_021241	NP_067064	O95785	WIZ_HUMAN			7	2724	-			1584					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.2701A>G		.	.	.	.	.	.	.	.	.	.	T	17.88	3.496957	0.64186	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.03358	3.96	5.41	5.41	0.78517	.	0.125905	0.50627	D	0.000103	T	0.10551	0.0258	L	0.29908	0.895	0.38662	D	0.952104	D;D;D	0.76494	0.99;0.999;0.997	P;D;D	0.80764	0.76;0.994;0.985	T	0.12656	-1.0539	10	0.62326	D	0.03	-11.5259	14.4311	0.67251	0.0:0.0:0.0:1.0	.	1584;727;768	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	A	1584;727;768;898	ENSP00000373933:T1584A	ENSP00000263381:T727A	T	-	1	0	WIZ	15396040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.566000	0.67372	2.063000	0.61619	0.459000	0.35465	ACA		0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	10	0	0	0	0.009096	0	3	10				
CYP4F3	4051	broad.mit.edu	37	19	15769135	15769135	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:15769135C>T	ENST00000221307.8	+	10	1224	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CYP4F3_ENST00000586182.2_Missense_Mutation_p.P393S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P393S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P393S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	393					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.P393S(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGGCTGCATCCCCCAGTCCC	0.627																																							uc002nbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1177-1179)CCC>TCC		cytochrome P450, family 4, subfamily F,							71.0	72.0	72.0					19																	15769135		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769135C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1177C>T	19.37:g.15769135C>T	ENSP00000221307:p.Pro393Ser					CYP4F3_uc010xok.1_Missense_Mutation_p.P393S|CYP4F3_uc010xol.1_Missense_Mutation_p.P393S|CYP4F3_uc010xom.1_Missense_Mutation_p.P244S|CYP4F3_uc002nbk.2_Missense_Mutation_p.P393S|CYP4F3_uc010xon.1_Missense_Mutation_p.P103S	p.P393S	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			10	1227	+			393					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1177C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.907997	0.52333	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.84516	-1.86	4.53	4.53	0.55603	.	0.279434	0.29253	U	0.012686	D	0.85978	0.5823	L	0.59912	1.85	0.39019	D	0.959707	B;P;P	0.35456	0.136;0.502;0.502	B;B;B	0.43950	0.124;0.437;0.437	D	0.86304	0.1682	10	0.38643	T	0.18	.	14.7638	0.69623	0.0:1.0:0.0:0.0	.	103;393;393	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	S	320;393	ENSP00000221307:P393S	ENSP00000221307:P393S	P	+	1	0	CYP4F3	15630135	0.865000	0.29922	0.041000	0.18516	0.042000	0.13812	1.587000	0.36622	2.068000	0.61886	0.305000	0.20034	CCC		0.627	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		4	100	0	0	0	0.009096	0	4	100				
FAM129C	199786	broad.mit.edu	37	19	17654231	17654231	+	Missense_Mutation	SNP	C	C	T	rs373733258		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:17654231C>T	ENST00000335393.4	+	12	1666	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	FAM129C_ENST00000599164.1_Missense_Mutation_p.R479C|FAM129C_ENST00000595684.1_Missense_Mutation_p.R510C|FAM129C_ENST00000352727.3_Missense_Mutation_p.R510C|FAM129C_ENST00000300971.2_Missense_Mutation_p.R510C|FAM129C_ENST00000599124.1_Missense_Mutation_p.R479C|FAM129C_ENST00000600871.1_Missense_Mutation_p.R456C|FAM129C_ENST00000332386.5_Missense_Mutation_p.R510C|FAM129C_ENST00000449408.2_Missense_Mutation_p.R236C|FAM129C_ENST00000601861.1_Missense_Mutation_p.R479C	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	510								p.R510C(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGTCAGGGGGCGCGTGCTGAA	0.657																																							uc010xpr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1528-1530)CGC>TGC		B-cell novel protein 1 isoform a		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	90.0	93.0	92.0		1528,1528	4.9	1.0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM129C	NM_001098524.1,NM_173544.4	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	510/652,510/698	17654231	1,13005	2203	4300	6503	SO:0001583	missense	199786							g.chr19:17654231C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1528C>T	19.37:g.17654231C>T	ENSP00000335040:p.Arg510Cys					FAM129C_uc010xpq.1_Missense_Mutation_p.R510C|FAM129C_uc002ngy.3_Missense_Mutation_p.R236C|FAM129C_uc010xpu.1_Missense_Mutation_p.R236C|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R236C|FAM129C_uc002nhb.2_Missense_Mutation_p.R109C	p.R510C	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			12	1666	+			510					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1528C>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	c	18.61	3.660167	0.67586	0.0	1.16E-4	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.52526	1.18;1.15;0.66;0.86;0.91	4.87	4.87	0.63330	.	0.107154	0.42294	D	0.000728	T	0.66906	0.2837	M	0.72894	2.215	0.37311	D	0.909147	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.942;0.966;0.966;0.966;0.996;0.966	T	0.74393	-0.3680	10	0.87932	D	0	-11.4753	13.8729	0.63631	0.0:1.0:0.0:0.0	.	456;510;510;510;236;510	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.;.	C	510;510;510;510;236;456	ENSP00000335040:R510C;ENSP00000333447:R510C;ENSP00000341067:R510C;ENSP00000300971:R510C;ENSP00000394929:R236C	ENSP00000300971:R510C	R	+	1	0	FAM129C	17515231	0.636000	0.27207	0.985000	0.45067	0.686000	0.39977	3.932000	0.56537	2.421000	0.82119	0.486000	0.48141	CGC		0.657	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		46	56	0	0	0	0.00361	0	46	56				
SUGP1	57794	broad.mit.edu	37	19	19427361	19427361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:19427361C>A	ENST00000247001.5	-	2	423	c.76G>T	c.(76-78)Gga>Tga	p.G26*	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Nonsense_Mutation_p.G26*	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	26					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.G26*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCATTTTTCCAGATTTAGGG	0.483																																							uc002nmh.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(76-78)GGA>TGA		splicing factor 4							104.0	84.0	91.0					19																	19427361		2203	4300	6503	SO:0001587	stop_gained	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19427361C>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.76G>T	19.37:g.19427361C>A	ENSP00000247001:p.Gly26*					SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	p.G26*	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			2	78	-			26					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	ENST00000247001.5	37	c.76G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157898	0.94686	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	.	.	.	4.88	4.88	0.63580	.	0.360208	0.29015	N	0.013420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.9497	0.86242	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000247001:G26X	G	-	1	0	SUGP1	19288361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.425000	0.82216	0.561000	0.74099	GGA		0.483	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		12	39	1	0	1.08611e-07	0.000978	1.29383e-07	12	39				
URI1	8725	broad.mit.edu	37	19	30476162	30476162	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:30476162G>A	ENST00000542441.2	+	3	482	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Missense_Mutation_p.R44Q|URI1_ENST00000312051.6_Missense_Mutation_p.R22Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	62					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R62Q(1)									AATGCCCTTCGAGAAAGACTC	0.274																																						Melanoma(75;661 1306 1472 28422 37948)	uc002nsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(184-186)CGA>CAA		RPB5-mediating protein isoform a							187.0	195.0	192.0					19																	30476162		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30476162G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.185G>A	19.37:g.30476162G>A	ENSP00000442436:p.Arg62Gln					C19orf2_uc002nsq.2_Missense_Mutation_p.R44Q|C19orf2_uc002nss.2_Missense_Mutation_p.R22Q|C19orf2_uc002nst.2_5'UTR	p.R62Q	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	3	215	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	62					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.185G>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	5.954	0.360057	0.11296	.	.	ENSG00000105176	ENST00000360605;ENST00000542441;ENST00000312051	T;T	0.44881	0.91;0.91	4.8	3.77	0.43336	Prefoldin (1);Prefoldin subunit (1);	0.239099	0.43110	N	0.000615	T	0.10809	0.0264	N	0.00670	-1.27	0.80722	D	1	B;B;B	0.15719	0.002;0.008;0.014	B;B;B	0.06405	0.0;0.002;0.001	T	0.23084	-1.0198	10	0.02654	T	1	-3.9455	7.3756	0.26827	0.8936:0.0:0.1064:0.0	.	22;62;60	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Q	60;62;22	ENSP00000442436:R62Q;ENSP00000312530:R22Q	ENSP00000312530:R22Q	R	+	2	0	C19orf2	35168002	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.766000	0.55280	0.726000	0.32339	0.563000	0.77884	CGA		0.274	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		14	180	0	0	0	0.00499	0	14	180				
SLC7A9	11136	broad.mit.edu	37	19	33355539	33355539	+	Silent	SNP	C	C	T	rs141456885		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:33355539C>T	ENST00000023064.4	-	3	422	c.231G>A	c.(229-231)acG>acA	p.T77T	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Silent_p.T77T|SLC7A9_ENST00000587772.1_Silent_p.T77T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	77					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.T77T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTTTACCCAGCGTCGCGAGGA	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		16728	0.001		0.0	False		,,,				2504	0.0				GBM(181;1335 2108 9644 44178 46689)	GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(229-231)ACG>ACA		solute carrier family 7, member 9	L-Cystine(DB00138)	T	,	1,4405	2.1+/-5.4	0,1,2202	54.0	55.0	55.0		231,231	-2.1	0.3	19	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	77/488,77/488	33355539	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355539C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.231G>A	19.37:g.33355539C>T						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.T77T|SLC7A9_uc002ntw.3_Intron	p.T77T	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			3	348	-	Esophageal squamous(110;0.137)		77			Helical; (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.231G>A	CCDS12425.1																																																																																				0.632	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			74	32	0	0	0	0.00361	0	74	32				
CEP89	84902	broad.mit.edu	37	19	33424517	33424517	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:33424517T>A	ENST00000305768.5	-	8	814	c.726A>T	c.(724-726)gcA>gcT	p.A242A	CEP89_ENST00000590597.2_Silent_p.A242A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	242					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.A242A(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCTTTTAATGCCTCAAACT	0.318																																							uc002nty.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)GCA>GCT		coiled-coil domain containing 123							244.0	225.0	231.0					19																	33424517		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33424517T>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.726A>T	19.37:g.33424517T>A						CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.A242A|CCDC123_uc002nua.2_Silent_p.A242A	p.A242A	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			8	815	-	Esophageal squamous(110;0.137)		242			Potential.		B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.726A>T	CCDS32987.1																																																																																				0.318	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		9	179	0	0	0	0.004482	0	9	179				
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G|ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001						uc002nvu.3		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(913-915)GTC>GGC		zinc finger protein 181 isoform 1							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	p.V305G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305			C2H2-type 3.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.914T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		3	123	0	0	0	0.001168	0	3	123				
NPHS1	4868	broad.mit.edu	37	19	36330257	36330257	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:36330257G>A	ENST00000378910.5	-	22	2990	c.2991C>T	c.(2989-2991)acC>acT	p.T997T	NPHS1_ENST00000353632.6_Silent_p.T997T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	997	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.T997T(1)		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)			TCAGCGTGAAGGTGGTGGCCT	0.582																																							uc002oby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2989-2991)ACC>ACT		nephrin precursor							97.0	83.0	88.0					19																	36330257		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36330257G>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.2991C>T	19.37:g.36330257G>A						NPHS1_uc010eem.1_RNA	p.T997T	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	2991	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		997			Fibronectin type-III.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2991C>T	CCDS32996.1																																																																																				0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			8	101	0	0	0	0.006214	0	8	101				
WDR62	284403	broad.mit.edu	37	19	36557325	36557325	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:36557325G>T	ENST00000270301.7	+	5	557	c.557G>T	c.(556-558)tGg>tTg	p.W186L	WDR62_ENST00000401500.2_Missense_Mutation_p.W186L|WDR62_ENST00000388999.3_Missense_Mutation_p.W186L|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	186					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.W186L(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCTGGGACTGGAAGGTAAGA	0.567																																							uc002odc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)TGG>TTG		WD repeat domain 62 isoform 2							83.0	55.0	64.0					19																	36557325		2202	4299	6501	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36557325G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.557G>T	19.37:g.36557325G>T	ENSP00000270301:p.Trp186Leu					WDR62_uc002odd.2_Missense_Mutation_p.W186L|WDR62_uc002odb.2_Missense_Mutation_p.W186L	p.W186L	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	648	+	Esophageal squamous(110;0.162)		186			WD 2.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.557G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848272	0.71603	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.55588	1.33;3.16;5.42;0.51	6.03	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.61703	1.905	0.80722	D	1	D;P;D	0.89917	0.979;0.848;1.0	P;P;D	0.85130	0.801;0.521;0.997	T	0.65721	-0.6099	10	0.31617	T	0.26	-15.0243	12.9008	0.58125	0.0777:0.0:0.9223:0.0	.	186;186;186	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	L	186;186;186;186;208	ENSP00000384792:W186L;ENSP00000373651:W186L;ENSP00000368137:W186L;ENSP00000270301:W186L	ENSP00000270301:W186L	W	+	2	0	WDR62	41249165	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.493000	0.97960	1.577000	0.49804	0.650000	0.86243	TGG		0.567	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	1	1	0	5.18039e-06	0.00308	5.95165e-06	8	1				
SAMD4B	55095	broad.mit.edu	37	19	39876663	39876663	+	IGR	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:39876663C>T	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Silent_p.L450L|PAF1_ENST00000221266.7_Silent_p.L427L|PAF1_ENST00000221265.3_Missense_Mutation_p.D522N	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D522N(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACTGGAATCAGAAGCTGCA	0.592																																							uc002old.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1564-1566)GAT>AAT		Paf1, RNA polymerase II associated factor,							57.0	47.0	51.0					19																	39876663		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39876663C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876663C>T						PAF1_uc002ole.1_Silent_p.L450L	p.D522N	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		14	1739	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		522					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1564G>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	c	10.68	1.417542	0.25552	.	.	ENSG00000006712	ENST00000221265	.	.	.	4.66	4.66	0.58398	.	0.667131	0.14817	N	0.296694	T	0.33118	0.0852	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.24974	0.057	T	0.19257	-1.0311	9	0.33940	T	0.23	-10.3789	15.1468	0.72662	0.0:1.0:0.0:0.0	.	522	Q8N7H5	PAF1_HUMAN	N	522	.	ENSP00000221265:D522N	D	-	1	0	PAF1	44568503	0.995000	0.38212	0.992000	0.48379	0.950000	0.60333	4.017000	0.57167	2.437000	0.82529	0.552000	0.68991	GAT		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		9	51	0	0	0	0.008291	0	9	51				
CEACAM5	1048	broad.mit.edu	37	19	42213867	42213867	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:42213867C>T	ENST00000221992.6	+	2	447	c.333C>T	c.(331-333)aaC>aaT	p.N111N	CEACAM5_ENST00000405816.1_Silent_p.N111N|CEACAM7_ENST00000599715.1_5'Flank|CEA_ENST00000598976.1_Silent_p.N111N|CEACAM5_ENST00000398599.4_Silent_p.N111N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	111	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N111N(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGATCCAGAACATCATCCAGA	0.453																																							uc002ork.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(331-333)AAC>AAT		carcinoembryonic antigen-related cell adhesion							233.0	236.0	235.0					19																	42213867		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213867C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.333C>T	19.37:g.42213867C>T						CEACAM5_uc010ehz.1_Silent_p.N111N|CEACAM5_uc002orj.1_Silent_p.N111N|CEACAM5_uc002orl.2_Silent_p.N111N	p.N111N	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	454	+			111			Ig-like 1.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.333C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	2.343	-0.350681	0.05173	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.09	-6.19	0.02078	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	.	4.4656	0.11687	0.0:0.2418:0.3169:0.4413	.	.	.	.	Y	108	.	.	H	+	1	0	CEACAM5	46905707	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-5.831000	0.00096	-1.452000	0.01931	-0.698000	0.03680	CAT		0.453	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		24	290	0	0	0	0.003954	0	24	290				
KCNN4	3783	broad.mit.edu	37	19	44273904	44273904	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:44273904G>T	ENST00000262888.3	-	5	1292	c.897C>A	c.(895-897)caC>caA	p.H299Q		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	299	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.H299Q(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCATGAAGTTGTGCACGTGCT	0.592																																							uc002oxl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(895-897)CAC>CAA		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						242.0	215.0	224.0					19																	44273904		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273904G>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.897C>A	19.37:g.44273904G>T	ENSP00000262888:p.His299Gln					KCNN4_uc010eiz.2_Missense_Mutation_p.H212Q	p.H299Q	NM_002250	NP_002241	O15554	KCNN4_HUMAN			5	1293	-		Prostate(69;0.0352)	299			Calmodulin-binding.		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.897C>A	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686061	0.47991	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.23147	1.92	5.02	3.98	0.46160	Calmodulin-binding domain (1);	0.116972	0.56097	D	0.000026	T	0.42877	0.1222	L	0.58810	1.83	0.58432	D	0.999999	D;B	0.76494	0.999;0.055	D;B	0.85130	0.997;0.024	T	0.32877	-0.9890	10	0.87932	D	0	-14.6365	7.8798	0.29616	0.1885:0.0:0.8115:0.0	.	193;299	D1MQ10;O15554	.;KCNN4_HUMAN	Q	299;167	ENSP00000262888:H299Q	ENSP00000262888:H299Q	H	-	3	2	KCNN4	48965744	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.655000	0.46707	1.239000	0.43787	0.655000	0.94253	CAC		0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		46	61	1	0	6.27289e-28	0.00361	9.57962e-28	46	61				
ZNF223	7766	broad.mit.edu	37	19	44564659	44564659	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:44564659G>T	ENST00000434772.3	+	3	322	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	ZNF223_ENST00000585552.1_Missense_Mutation_p.G23W|ZNF223_ENST00000591793.1_Missense_Mutation_p.G133W|ZNF223_ENST00000588518.1_Intron	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G23W(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGAGGAGCTGGGGCTGCTGGA	0.517																																							uc002oyf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(67-69)GGG>TGG		zinc finger protein 223							243.0	217.0	226.0					19																	44564659		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564659G>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.67G>T	19.37:g.44564659G>T	ENSP00000401947:p.Gly23Trp					ZNF284_uc010ejd.2_RNA	p.G23W	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			3	320	+		Prostate(69;0.0352)	23			KRAB.		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.67G>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769449	0.49680	.	.	ENSG00000178386	ENST00000434772	T	0.02067	4.47	2.37	1.11	0.20524	Krueppel-associated box (4);	.	.	.	.	T	0.10508	0.0257	M	0.80332	2.49	0.27013	N	0.96465	D	0.76494	0.999	D	0.67900	0.954	T	0.03898	-1.0994	9	0.66056	D	0.02	.	10.0829	0.42401	0.0:0.2077:0.7923:0.0	.	23	Q9UK11	ZN223_HUMAN	W	23	ENSP00000401947:G23W	ENSP00000401947:G23W	G	+	1	0	ZNF223	49256499	0.876000	0.30132	1.000000	0.80357	0.897000	0.52465	1.550000	0.36223	1.301000	0.44836	0.305000	0.20034	GGG		0.517	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			84	123	1	0	2.35699e-46	0.00361	3.77811e-46	84	123				
GIPR	2696	broad.mit.edu	37	19	46173932	46173932	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46173932C>A	ENST00000590918.1	+	3	211	c.112C>A	c.(112-114)Cgc>Agc	p.R38S	GIPR_ENST00000263281.3_Missense_Mutation_p.R38S|GIPR_ENST00000304207.8_Missense_Mutation_p.R38S	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	38					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.R38S(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCTGTACCAGCGCTGGGAACG	0.677																																							uc002pcu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)CGC>AGC		gastric inhibitory polypeptide receptor							20.0	22.0	21.0					19																	46173932		2201	4298	6499	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46173932C>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.112C>A	19.37:g.46173932C>A	ENSP00000467494:p.Arg38Ser					GIPR_uc002pct.1_Missense_Mutation_p.R38S|GIPR_uc010xxp.1_Missense_Mutation_p.R38S|GIPR_uc010xxq.1_RNA	p.R38S	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	3	211	+		Ovarian(192;0.051)|all_neural(266;0.112)	38			Extracellular (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.112C>A	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220787	0.58560	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.53206	0.63;0.63	5.56	4.46	0.54185	.	0.245512	0.29273	N	0.012631	T	0.37732	0.1014	L	0.43152	1.355	0.33810	D	0.627768	B;B;B	0.25007	0.006;0.116;0.014	B;B;B	0.23716	0.005;0.048;0.047	T	0.45469	-0.9259	10	0.27082	T	0.32	.	10.9278	0.47201	0.1869:0.8131:0.0:0.0	.	38;38;38	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	S	38	ENSP00000263281:R38S;ENSP00000305321:R38S	ENSP00000263281:R38S	R	+	1	0	GIPR	50865772	0.913000	0.31002	1.000000	0.80357	0.986000	0.74619	1.142000	0.31540	2.635000	0.89317	0.650000	0.86243	CGC		0.677	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			18	18	1	0	1.56452e-12	0.007413	2.07335e-12	18	18				
SYMPK	8189	broad.mit.edu	37	19	46345558	46345558	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46345558C>A	ENST00000245934.7	-	9	1281	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	346					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R346L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGCCGCTTGCGGGTGTCCTT	0.627																																							uc002pdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)CGC>CTC		symplekin							66.0	67.0	66.0					19																	46345558		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345558C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1037G>T	19.37:g.46345558C>A	ENSP00000245934:p.Arg346Leu					SYMPK_uc002pdo.1_Missense_Mutation_p.R346L|SYMPK_uc002pdp.1_Missense_Mutation_p.R346L|SYMPK_uc002pdq.1_Missense_Mutation_p.R346L	p.R346L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1282	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	346			Nuclear localization signal (Potential).		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1037G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	32	5.135634	0.94517	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.61218	1.895	0.80722	D	1	B;P	0.49961	0.375;0.93	B;P	0.45449	0.041;0.481	T	0.65109	-0.6248	9	0.59425	D	0.04	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	361;346	Q4LE61;Q92797	.;SYMPK_HUMAN	L	346	.	ENSP00000245934:R346L	R	-	2	0	SYMPK	51037398	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGC		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		35	42	1	0	4.65686e-17	0.003755	6.6029e-17	35	42				
HIF3A	64344	broad.mit.edu	37	19	46808501	46808501	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46808501G>A	ENST00000377670.4	+	3	248		c.e3-1		HIF3A_ENST00000339613.2_Splice_Site|HIF3A_ENST00000525854.1_Splice_Site|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000300862.3_Splice_Site|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Intron	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit						cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGGGCACCAGGGGAGTGGAA	0.612																																							uc002peh.2		NA																	1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.e3-1		hypoxia inducible factor 3, alpha subunit							65.0	68.0	67.0					19																	46808501		2203	4300	6503	SO:0001630	splice_region_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46808501G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.218-1G>A	19.37:g.46808501G>A						HIF3A_uc002pef.1_Splice_Site_p.G73_splice|HIF3A_uc002peg.3_Splice_Site_p.G73_splice|HIF3A_uc010xxx.1_Splice_Site|HIF3A_uc002pei.3_Splice_Site_p.G17_splice|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Splice_Site_p.G17_splice|HIF3A_uc010xxy.1_Intron|HIF3A_uc002pel.2_Splice_Site_p.G71_splice|HIF3A_uc010xxz.1_Intron	p.G73_splice	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	3	247	+		Ovarian(192;0.00965)|all_neural(266;0.0887)						B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Splice_Site	SNP	ENST00000377670.4	37	c.218_splice	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743352	0.49151	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000533145;ENST00000291300;ENST00000300862	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3545	0.74418	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIF3A	51500341	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	3.607000	0.54102	2.571000	0.86741	0.491000	0.48974	.		0.612	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		Intron	34	48	0	0	0	0.003271	0	34	48				
GLTSCR1	29998	broad.mit.edu	37	19	48205578	48205578	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:48205578G>A	ENST00000396720.3	+	15	4783	c.4589G>A	c.(4588-4590)gGc>gAc	p.G1530D	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1530								p.G1530D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCTCGGCCGGCACCCCCGCA	0.726																																							uc002phh.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)	3						c.(4588-4590)GGC>GAC		glioma tumor suppressor candidate region gene 1							7.0	8.0	7.0					19																	48205578		1923	4039	5962	SO:0001583	missense	29998						protein binding	g.chr19:48205578G>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4589G>A	19.37:g.48205578G>A	ENSP00000379946:p.Gly1530Asp					GLTSCR1_uc002phi.3_Missense_Mutation_p.G1288D	p.G1530D	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	4783	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1530					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.4589G>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	5.119	0.207665	0.09704	.	.	ENSG00000063169	ENST00000396720	T	0.30448	1.53	2.74	-4.38	0.03622	.	.	.	.	.	T	0.16727	0.0402	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.26969	0.075	T	0.33675	-0.9859	9	0.72032	D	0.01	.	6.5002	0.22164	0.0:0.4271:0.4136:0.1593	.	1530	Q9NZM4	GSCR1_HUMAN	D	1530	ENSP00000379946:G1530D	ENSP00000379946:G1530D	G	+	2	0	GLTSCR1	52897390	0.009000	0.17119	0.000000	0.03702	0.099000	0.18886	0.098000	0.15189	-0.479000	0.06813	0.313000	0.20887	GGC		0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		8	7	0	0	0	0.00308	0	8	7				
CCDC155	147872	broad.mit.edu	37	19	49898410	49898410	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:49898410G>A	ENST00000447857.3	+	4	401	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	66						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G66S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGCTGTGACAGGCCAGGGCCC	0.637																																							uc002pnm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(196-198)GGC>AGC		coiled-coil domain containing 155							34.0	38.0	37.0					19																	49898410		2006	4160	6166	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49898410G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.196G>A	19.37:g.49898410G>A	ENSP00000404220:p.Gly66Ser					CCDC155_uc002pnl.1_Missense_Mutation_p.G66S|CCDC155_uc010emx.1_Missense_Mutation_p.G39S	p.G66S	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			4	370	+			66					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.196G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875670	0.72180	.	.	ENSG00000161609	ENST00000447857	T	0.70516	-0.49	4.52	4.52	0.55395	EF-hand-like domain (1);	0.327543	0.29501	N	0.011980	T	0.78780	0.4337	L	0.59912	1.85	0.35646	D	0.811362	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78468	-0.2192	10	0.16896	T	0.51	-17.3248	13.1003	0.59216	0.0:0.0:1.0:0.0	.	66;66;146	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	S	66	ENSP00000404220:G66S	ENSP00000404220:G66S	G	+	1	0	CCDC155	54590222	0.998000	0.40836	0.939000	0.37840	0.974000	0.67602	4.746000	0.62133	2.246000	0.74042	0.462000	0.41574	GGC		0.637	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		12	21	0	0	0	0.001368	0	12	21				
SIGLEC10	89790	broad.mit.edu	37	19	51918205	51918205	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:51918205G>T	ENST00000339313.5	-	8	1604	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.P496P|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Silent_p.P438P|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	496					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P438P(1)|p.P496P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGCTGAGCTGGGGGTGACCT	0.711																																							uc002pwo.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1486-1488)CCC>CCA		sialic acid binding Ig-like lectin 10 precursor							29.0	32.0	31.0					19																	51918205		2203	4297	6500	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918205G>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1488C>A	19.37:g.51918205G>T						SIGLEC10_uc002pwp.2_Silent_p.P438P|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron	p.P496P	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	2104	-		all_neural(266;0.0199)	496			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.1488C>A	CCDS12832.1																																																																																				0.711	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		19	22	1	0	1.45105e-14	0.006122	1.97706e-14	19	22				
SIGLEC8	27181	broad.mit.edu	37	19	51958820	51958820	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:51958820G>T	ENST00000321424.3	-	4	969	c.903C>A	c.(901-903)acC>acA	p.T301T	SIGLEC8_ENST00000430817.1_Silent_p.T192T|SIGLEC8_ENST00000340550.5_Silent_p.T208T|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	301	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.T301T(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGGCACAGGGTCAGGCTCC	0.632																																							uc002pwt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(901-903)ACC>ACA		sialic acid binding Ig-like lectin 8 precursor							50.0	49.0	50.0					19																	51958820		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958820G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.903C>A	19.37:g.51958820G>T						SIGLEC8_uc010yda.1_Silent_p.T192T|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.T208T	p.T301T	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	970	-		all_neural(266;0.0199)	301			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Silent	SNP	ENST00000321424.3	37	c.903C>A	CCDS33086.1																																																																																				0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		28	25	1	0	2.12542e-12	0.00632	2.79964e-12	28	25				
BIRC8	112401	broad.mit.edu	37	19	53793627	53793627	+	Start_Codon_SNP	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:53793627T>C	ENST00000426466.1	-	1	1248	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	1					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.M1V(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAACCCGTCATGGATGGATTC	0.418																																							uc002qbk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1-3)ATG>GTG		baculoviral IAP repeat-containing 8							40.0	44.0	43.0					19																	53793627		2198	4299	6497	SO:0001582	initiator_codon_variant	112401				apoptosis		zinc ion binding	g.chr19:53793627T>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.1A>G	19.37:g.53793627T>C	ENSP00000412957:p.Met1Val						p.M1V	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1249	-			1					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.1A>G	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701125	0.30142	.	.	ENSG00000163098	ENST00000426466	T	0.04360	3.64	0.502	0.502	0.16932	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.14527	0.0351	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.03212	-1.1060	8	0.87932	D	0	-35.3175	5.4107	0.16346	0.0:1.0E-4:0.0:0.9999	.	1	Q96P09	BIRC8_HUMAN	V	1	ENSP00000412957:M1V	ENSP00000412957:M1V	M	-	1	0	BIRC8	58485439	1.000000	0.71417	0.017000	0.16124	0.034000	0.12701	2.208000	0.42797	0.486000	0.27676	0.344000	0.21773	ATG		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	Missense_Mutation	27	44	0	0	0	0.00632	0	27	44				
LILRB5	10990	broad.mit.edu	37	19	54760611	54760611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:54760611C>T	ENST00000316219.5	-	3	203	c.96G>A	c.(94-96)tgG>tgA	p.W32*	LILRB5_ENST00000450632.1_Nonsense_Mutation_p.W32*|LILRB5_ENST00000345866.6_Nonsense_Mutation_p.W32*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W32*	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	32	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.W32*(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCTCAGCCCAGAGGGTGG	0.622																																							uc002qex.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(94-96)TGG>TGA		leukocyte immunoglobulin-like receptor,							45.0	52.0	50.0					19																	54760611		2203	4300	6503	SO:0001587	stop_gained	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760611C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.96G>A	19.37:g.54760611C>T	ENSP00000320390:p.Trp32*					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.W32*|LILRB5_uc002qey.2_Nonsense_Mutation_p.W32*|LILRB5_uc002qez.2_Nonsense_Mutation_p.W32*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.W22*|LILRB5_uc010yes.1_RNA	p.W32*	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	207	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		32			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Nonsense_Mutation	SNP	ENST00000316219.5	37	c.96G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263752	0.39995	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	3.18	2.13	0.27403	.	0.779720	0.11264	N	0.582288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2444	0.20810	0.0:0.8537:0.0:0.1463	.	.	.	.	X	32	.	ENSP00000320390:W32X	W	-	3	0	LILRB5	59452423	0.823000	0.29233	0.803000	0.32268	0.011000	0.07611	1.642000	0.37207	0.666000	0.31087	-0.225000	0.12378	TGG		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			45	34	0	0	0	0.002522	0	45	34				
LILRB1	10859	broad.mit.edu	37	19	55143585	55143585	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:55143585C>T	ENST00000396331.1	+	6	915	c.558C>T	c.(556-558)ccC>ccT	p.P186P	LILRB1_ENST00000448689.1_Silent_p.P186P|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Silent_p.P186P|LILRB1_ENST00000396321.2_Silent_p.P186P|LILRB1_ENST00000396315.1_Silent_p.P186P|LILRB1_ENST00000324602.7_Silent_p.P186P|LILRB1_ENST00000427581.2_Silent_p.P222P|LILRB1_ENST00000396317.1_Silent_p.P186P|LILRB1_ENST00000434867.2_Silent_p.P186P|LILRB1_ENST00000396332.4_Silent_p.P186P|LILRB1_ENST00000396327.3_Silent_p.P186P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	186	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P186P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGTGGGCCCCGTGAGCCCGA	0.592										HNSCC(37;0.09)																													uc002qgj.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(556-558)CCC>CCT		leukocyte immunoglobulin-like receptor,							132.0	131.0	131.0					19																	55143585		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143585C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.558C>T	19.37:g.55143585C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.P186P|LILRB1_uc002qgk.2_Silent_p.P186P|LILRB1_uc002qgm.2_Silent_p.P186P|LILRB1_uc010erq.2_Silent_p.P186P|LILRB1_uc010err.2_RNA	p.P186P	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	898	+			186			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.558C>T	CCDS42617.1																																																																																				0.592	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			59	82	0	0	0	0.00361	0	59	82				
NCR1	9437	broad.mit.edu	37	19	55417575	55417575	+	Silent	SNP	C	C	T	rs371994983		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:55417575C>T	ENST00000291890.4	+	1	68	c.30C>T	c.(28-30)tgC>tgT	p.C10C	NCR1_ENST00000338835.5_Silent_p.C10C|NCR1_ENST00000350790.5_Silent_p.C10C|NCR1_ENST00000357397.5_Silent_p.C10C|NCR1_ENST00000447255.1_Silent_p.C10C|NCR1_ENST00000598576.1_Silent_p.C10C|NCR1_ENST00000594765.1_Silent_p.C10C	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	10					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.C10C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCTGCTCTGCGTCGGTGAGT	0.607																																							uc002qib.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(28-30)TGC>TGT		natural cytotoxicity triggering receptor 1		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	129.0	103.0	112.0		30,30,30,30,30	1.0	0.1	19		112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCR1	NM_001145457.1,NM_001145458.1,NM_001242356.1,NM_001242357.1,NM_004829.5	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	10/304,10/288,10/210,10/193,10/305	55417575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55417575C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.30C>T	19.37:g.55417575C>T						NCR1_uc002qic.2_Silent_p.C10C|NCR1_uc002qie.2_Silent_p.C10C|NCR1_uc002qid.2_Silent_p.C10C|NCR1_uc002qif.2_Silent_p.C10C|NCR1_uc010esj.2_Silent_p.C10C	p.C10C	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	1	68	+			10					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	c.30C>T	CCDS12911.1																																																																																				0.607	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			30	38	0	0	0	0.002836	0	30	38				
NLRP11	204801	broad.mit.edu	37	19	56319360	56319360	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56319360T>C	ENST00000589093.1	-	4	1955	c.1862A>G	c.(1861-1863)tAc>tGc	p.Y621C	NLRP11_ENST00000443188.1_Missense_Mutation_p.Y621C|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.Y522C			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	621							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.Y621C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCTCTCCAGTAGACAAGGCT	0.363																																							uc010ygf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1861-1863)TAC>TGC		NLR family, pyrin domain containing 11							63.0	68.0	66.0					19																	56319360		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56319360T>C	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1862A>G	19.37:g.56319360T>C	ENSP00000466285:p.Tyr621Cys					NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Missense_Mutation_p.Y522C|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.Y621C	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2573	-		Colorectal(82;0.0002)	621					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1862A>G	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	5.790	0.330011	0.10956	.	.	ENSG00000179873	ENST00000443188	T	0.52754	0.65	2.08	-1.73	0.08081	.	.	.	.	.	T	0.21962	0.0529	N	0.11427	0.14	0.09310	N	1	B	0.21147	0.052	B	0.20184	0.028	T	0.14364	-1.0475	9	0.33141	T	0.24	.	2.2405	0.04018	0.459:0.1557:0.0:0.3854	.	621	P59045	NAL11_HUMAN	C	621	ENSP00000409898:Y621C	ENSP00000409898:Y621C	Y	-	2	0	NLRP11	61011172	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.996000	0.03709	-0.587000	0.05890	-1.385000	0.01166	TAC		0.363	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		44	31	0	0	0	0.003214	0	44	31				
NLRP4	147945	broad.mit.edu	37	19	56379097	56379098	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56379097_56379098CC>AA	ENST00000301295.6	+	6	2631_2632	c.2209_2210CC>AA	c.(2209-2211)CCc>AAc	p.P737N	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.P662N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	737					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P737N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACCTCTCACCCATTGATTGT	0.47																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2209-2211)CCC>AAC		NLR family, pyrin domain containing 4																																				SO:0001583	missense	147945						ATP binding	g.chr19:56379097_56379098CC>AA	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		Exception_encountered	19.37:g.56379097_56379098delinsAA	ENSP00000301295:p.Pro737Asn					NLRP4_uc002qmf.2_Missense_Mutation_p.P662N|NLRP4_uc010etf.2_Intron	p.P737N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2631_2632	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	737			LRR 3.		Q86W87|Q96AY6	Missense_Mutation	DNP	ENST00000301295.6	37	c.2209_2210CC>AA	CCDS12936.1																																																																																				0.470	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		24	62	0	0	0	0.004672	0	24	62				
NLRP13	126204	broad.mit.edu	37	19	56419176	56419176	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56419176C>T	ENST00000342929.3	-	7	2428	c.2429G>A	c.(2428-2430)tGc>tAc	p.C810Y	NLRP13_ENST00000588751.1_Missense_Mutation_p.C810Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	810							ATP binding (GO:0005524)	p.C810Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTGAGGTTGCAAGCTGAGTG	0.517																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2428-2430)TGC>TAC		NACHT, leucine rich repeat and PYD containing							113.0	100.0	104.0					19																	56419176		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56419176C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2429G>A	19.37:g.56419176C>T	ENSP00000343891:p.Cys810Tyr						p.C810Y	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	7	2454	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	810					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2429G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499431	0.26861	.	.	ENSG00000173572	ENST00000342929	T	0.55588	0.51	2.18	2.18	0.27775	.	.	.	.	.	T	0.73560	0.3602	M	0.91300	3.195	0.09310	N	1	D	0.71674	0.998	D	0.68621	0.959	T	0.60188	-0.7312	9	0.87932	D	0	.	7.923	0.29857	0.0:1.0:0.0:0.0	.	810	Q86W25	NAL13_HUMAN	Y	810	ENSP00000343891:C810Y	ENSP00000343891:C810Y	C	-	2	0	NLRP13	61110988	0.046000	0.20272	0.187000	0.23214	0.010000	0.07245	2.075000	0.41538	1.563000	0.49615	0.585000	0.79938	TGC		0.517	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		56	57	0	0	0	0.00361	0	56	57				
ZNF667	63934	broad.mit.edu	37	19	56953189	56953189	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56953189T>C	ENST00000504904.3	-	7	1894	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	ZNF667_ENST00000342634.3_Missense_Mutation_p.E520G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.E392G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E392G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCAGACCTTCTCACATTTATT	0.348																																							uc002qnd.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1174-1176)GAG>GGG		zinc finger protein 667							69.0	72.0	71.0					19																	56953189		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953189T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1175A>G	19.37:g.56953189T>C	ENSP00000439402:p.Glu392Gly					ZNF667_uc010etl.2_Missense_Mutation_p.E174G|ZNF667_uc002qne.2_Missense_Mutation_p.E392G|ZNF667_uc010etm.2_Missense_Mutation_p.E335G	p.E392G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1337	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	392			C2H2-type 8.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1175A>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.199671	0.00299	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.35048	1.33;1.33;1.33	5.05	-0.94	0.10405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.656368	0.13428	N	0.388639	T	0.07413	0.0187	N	0.00507	-1.42	0.26566	N	0.973645	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.37865	-0.9687	10	0.02654	T	1	-5.4432	5.7311	0.18040	0.0:0.4617:0.1738:0.3645	.	520;392	E7EPS0;Q5HYK9	.;ZN667_HUMAN	G	520;392;392;174	ENSP00000344699:E520G;ENSP00000439402:E392G;ENSP00000292069:E392G	ENSP00000292069:E392G	E	-	2	0	ZNF667	61645001	0.007000	0.16637	0.061000	0.19648	0.005000	0.04900	0.120000	0.15647	-0.146000	0.11274	-0.326000	0.08463	GAG		0.348	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		6	51	0	0	0	0.001168	0	6	51				
PEG3	5178	broad.mit.edu	37	19	57328349	57328349	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:57328349G>C	ENST00000326441.9	-	10	1824	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.I487M|PEG3_ENST00000593695.1_Missense_Mutation_p.I361M|PEG3_ENST00000598410.1_Missense_Mutation_p.I363M|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	487					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I487M(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCACACTGTGGATAAAGGACT	0.463																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1459-1461)ATC>ATG		paternally expressed 3 isoform 1							187.0	168.0	175.0					19																	57328349		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328349G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1461C>G	19.37:g.57328349G>C	ENSP00000326581:p.Ile487Met					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.I458M|PEG3_uc002qnv.2_Missense_Mutation_p.I487M|PEG3_uc002qnw.2_Missense_Mutation_p.I363M|PEG3_uc002qnx.2_Missense_Mutation_p.I361M|PEG3_uc010etr.2_Missense_Mutation_p.I487M	p.I487M	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1812	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	487					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1461C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	8.339	0.828354	0.16749	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02606	4.23;4.23	3.99	-3.68	0.04463	.	0.000000	0.45606	D	0.000352	T	0.05731	0.0150	L	0.52206	1.635	.	.	.	P;P;P	0.45531	0.86;0.726;0.853	P;B;P	0.55345	0.774;0.205;0.505	T	0.01051	-1.1468	9	0.56958	D	0.05	-15.5934	8.4129	0.32655	0.3545:0.0:0.525:0.1206	.	363;487;422	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	M	487;487;457	ENSP00000326581:I487M;ENSP00000403051:I487M	ENSP00000292074:I457M	I	-	3	3	ZIM2	62020161	0.000000	0.05858	0.037000	0.18230	0.893000	0.52053	-4.653000	0.00203	-1.426000	0.01994	-2.372000	0.00235	ATC		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			22	134	0	0	0	0.002299	0	22	134				
ZSCAN1	284312	broad.mit.edu	37	19	58551818	58551818	+	Splice_Site	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:58551818T>C	ENST00000282326.1	+	4	618	c.371T>C	c.(370-372)gTt>gCt	p.V124A		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	124					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.V124A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCGCACAGTTCTGGTATCT	0.587																																							uc002qrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(370-372)GTT>GCT		zinc finger and SCAN domain containing 1							107.0	119.0	115.0					19																	58551818		2203	4300	6503	SO:0001630	splice_region_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551818T>C	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.371-1T>C	19.37:g.58551818T>C							p.V124A	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	618	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	124					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.371T>C	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.647354	0.00792	.	.	ENSG00000152467	ENST00000282326	T	0.03920	3.76	1.09	1.09	0.20402	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	.	.	.	.	T	0.04407	0.0121	L	0.50333	1.59	0.80722	D	1	B	0.31879	0.344	B	0.30316	0.114	T	0.44081	-0.9351	8	.	.	.	.	4.386	0.11316	0.0:0.0:0.0:1.0	.	124	Q8NBB4	ZSCA1_HUMAN	A	124	ENSP00000282326:V124A	.	V	+	2	0	ZSCAN1	63243630	0.237000	0.23815	0.982000	0.44146	0.708000	0.40852	0.182000	0.16900	0.747000	0.32809	0.260000	0.18958	GTT		0.587	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	Missense_Mutation	20	133	0	0	0	0.010504	0	20	133				
PXDN	7837	broad.mit.edu	37	2	1652063	1652063	+	Silent	SNP	C	C	G	rs370271015		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:1652063C>G	ENST00000252804.4	-	17	3539	c.3489G>C	c.(3487-3489)cgG>cgC	p.R1163R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1163					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R1163R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCCGTGGTCCCGGCCCCGCT	0.597																																							uc002qxa.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3487-3489)CGG>CGC		peroxidasin precursor							80.0	90.0	87.0					2																	1652063		2027	4209	6236	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652063C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3489G>C	2.37:g.1652063C>G							p.R1163R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3553	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1163					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3489G>C	CCDS46221.1																																																																																				0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		39	133	0	0	0	0.004878	0	39	133				
PXDN	7837	broad.mit.edu	37	2	1653374	1653374	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:1653374G>T	ENST00000252804.4	-	17	2228	c.2178C>A	c.(2176-2178)caC>caA	p.H726Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	726					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H726Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACGCGCCGGTGGGCGGTAC	0.602																																							uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2176-2178)CAC>CAA		peroxidasin precursor							78.0	84.0	82.0					2																	1653374		2086	4214	6300	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653374G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2178C>A	2.37:g.1653374G>T	ENSP00000252804:p.His726Gln						p.H726Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2242	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	726					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2178C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344576	0.41498	.	.	ENSG00000130508	ENST00000252804	T	0.60040	0.22	5.63	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	L	0.55103	1.725	0.46749	D	0.999183	P	0.52316	0.952	P	0.55923	0.787	T	0.62191	-0.6906	10	0.40728	T	0.16	-63.7398	9.2962	0.37817	0.2047:0.0:0.7953:0.0	.	726	Q92626	PXDN_HUMAN	Q	726	ENSP00000252804:H726Q	ENSP00000252804:H726Q	H	-	3	2	PXDN	1632381	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	1.095000	0.30964	1.396000	0.46663	-0.259000	0.10710	CAC		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		28	76	1	0	2.4375e-19	0.007291	3.51904e-19	28	76				
SOX11	6664	broad.mit.edu	37	2	5833567	5833567	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:5833567G>C	ENST00000322002.3	+	1	769	c.714G>C	c.(712-714)caG>caC	p.Q238H	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	238					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)	p.Q238H(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGCAGCTGCAGATCAAACAGG	0.677																																							uc002qyj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(712-714)CAG>CAC		SRY-box 11							12.0	12.0	12.0					2																	5833567		2107	4196	6303	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833567G>C		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.714G>C	2.37:g.5833567G>C	ENSP00000322568:p.Gln238His						p.Q238H	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	769	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		238					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.714G>C	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693655	0.48202	.	.	ENSG00000176887	ENST00000322002	D	0.97811	-4.55	4.1	-1.43	0.08884	.	1.551120	0.05080	U	0.483248	D	0.92535	0.7629	N	0.08118	0	0.22940	N	0.998532	B	0.20164	0.042	B	0.21917	0.037	D	0.86194	0.1614	10	0.45353	T	0.12	.	7.8554	0.29478	0.1097:0.4389:0.4514:0.0	.	238	P35716	SOX11_HUMAN	H	238	ENSP00000322568:Q238H	ENSP00000322568:Q238H	Q	+	3	2	SOX11	5751018	1.000000	0.71417	0.910000	0.35882	0.985000	0.73830	1.614000	0.36911	-0.168000	0.10853	0.478000	0.44815	CAG		0.677	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		6	18	0	0	0	0.001168	0	6	18				
RAD51AP2	729475	broad.mit.edu	37	2	17697591	17697591	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:17697591C>T	ENST00000399080.2	-	1	2115	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	698								p.D698N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAATTTCATCCATGTCATCA	0.308																																							uc002rcl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2092-2094)GAT>AAT		RAD51 associated protein 2							48.0	46.0	47.0					2																	17697591		1804	4050	5854	SO:0001583	missense	729475							g.chr2:17697591C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2092G>A	2.37:g.17697591C>T	ENSP00000382030:p.Asp698Asn					RAD51AP2_uc010exn.1_Missense_Mutation_p.D689N	p.D698N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	2116	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		698						Missense_Mutation	SNP	ENST00000399080.2	37	c.2092G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	1.231	-0.624100	0.03636	.	.	ENSG00000214842	ENST00000399080	T	0.24723	1.84	4.76	0.925	0.19424	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.38650	-0.9651	9	0.11182	T	0.66	-0.0692	4.5163	0.11937	0.1433:0.538:0.0:0.3187	.	698	Q09MP3	R51A2_HUMAN	N	698	ENSP00000382030:D698N	ENSP00000382030:D698N	D	-	1	0	RAD51AP2	17561072	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.511000	0.02260	0.042000	0.15717	0.591000	0.81541	GAT		0.308	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		16	70	0	0	0	0.003163	0	16	70				
CAD	790	broad.mit.edu	37	2	27446491	27446491	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:27446491G>A	ENST00000403525.1	+	7	1014	c.870G>A	c.(868-870)ctG>ctA	p.L290L	CAD_ENST00000264705.4_Silent_p.L290L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.L290L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTTTCTGACATCCCAGA	0.567																																							uc002rji.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(868-870)CTG>CTA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						185.0	179.0	181.0					2																	27446491		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446491G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.870G>A	2.37:g.27446491G>A						CAD_uc010eyw.2_Silent_p.L290L	p.L290L	NM_004341	NP_004332	P27708	PYR1_HUMAN			7	1032	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		290			Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.870G>A																																																																																					0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			13	270	0	0	0	0.001368	0	13	270				
ALK	238	broad.mit.edu	37	2	29551274	29551274	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:29551274C>G	ENST00000389048.3	-	6	2262	c.1356G>C	c.(1354-1356)ggG>ggC	p.G452G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	452	LDL-receptor class A.				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)	p.G452G(1)	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)	CACAGGCCTGCCCAAGCTGGA	0.602			"""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)	1	Substitution - coding silent(1)		lung(1)	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.(1354-1356)GGG>GGC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						82.0	71.0	75.0					2																	29551274		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:29551274C>G	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.1356G>C	2.37:g.29551274C>G							p.G452G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			6	2263	-	Acute lymphoblastic leukemia(172;0.155)		452			LDL-receptor class A.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1356G>C	CCDS33172.1																																																																																				0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		9	65	0	0	0	0.006214	0	9	65				
SLC8A1	6546	broad.mit.edu	37	2	40656505	40656505	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:40656505C>A	ENST00000403092.1	-	2	949	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	SLC8A1_ENST00000402441.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G306C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G306C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G306C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G306C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G306C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	306					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G306C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCAGAGCACCATCTAAGAAA	0.438																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(916-918)GGT>TGT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						138.0	144.0	142.0					2																	40656505		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656505C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.916G>T	2.37:g.40656505C>A	ENSP00000384763:p.Gly306Cys					SLC8A1_uc002rry.2_Missense_Mutation_p.G306C|SLC8A1_uc002rrz.2_Missense_Mutation_p.G306C|SLC8A1_uc002rsa.2_Missense_Mutation_p.G306C|SLC8A1_uc002rsd.3_Missense_Mutation_p.G306C|SLC8A1_uc002rsb.1_Missense_Mutation_p.G306C|SLC8A1_uc010fan.1_Missense_Mutation_p.G306C|SLC8A1_uc002rsc.1_Missense_Mutation_p.G306C	p.G306C	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	940	-			306			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.916G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681476	0.68042	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.32023	1.49;1.52;1.52;1.52;1.49;1.49;1.52;1.47;1.49;1.49	5.96	5.96	0.96718	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.998;0.995	T	0.64390	-0.6419	10	0.87932	D	0	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	306;306;306;306;306	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	C	306	ENSP00000383886:G306C;ENSP00000440727:G306C;ENSP00000384763:G306C;ENSP00000385678:G306C;ENSP00000385188:G306C;ENSP00000385535:G306C;ENSP00000332931:G306C;ENSP00000384908:G306C;ENSP00000385811:G306C;ENSP00000443515:G306C	ENSP00000332931:G306C	G	-	1	0	SLC8A1	40510009	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.663000	0.83820	2.832000	0.97577	0.655000	0.94253	GGT		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		67	197	1	0	6.05568e-20	0.00361	8.78628e-20	67	197				
SRBD1	55133	broad.mit.edu	37	2	45829073	45829073	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:45829073C>A	ENST00000263736.4	-	3	292	c.230G>T	c.(229-231)gGc>gTc	p.G77V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	77					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.G77V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GACTTCTGAGCCATCACTGAT	0.478																																							uc002rus.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(229-231)GGC>GTC		S1 RNA binding domain 1							202.0	194.0	197.0					2																	45829073		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45829073C>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.230G>T	2.37:g.45829073C>A	ENSP00000263736:p.Gly77Val						p.G77V	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		3	306	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	77					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.230G>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	4.683	0.127021	0.08931	.	.	ENSG00000068784	ENST00000263736	T	0.21734	1.99	5.2	-2.71	0.05986	.	1.532570	0.03583	N	0.230573	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.21930	-1.0231	10	0.32370	T	0.25	.	1.9271	0.03319	0.127:0.4387:0.1245:0.3098	.	77	Q8N5C6	SRBD1_HUMAN	V	77	ENSP00000263736:G77V	ENSP00000263736:G77V	G	-	2	0	SRBD1	45682577	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.128000	0.10531	-0.382000	0.07870	-1.640000	0.00773	GGC		0.478	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		66	186	1	0	7.1157e-29	0.00361	1.09821e-28	66	186				
FSHR	2492	broad.mit.edu	37	2	49190767	49190767	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:49190767C>A	ENST00000406846.2	-	10	1312	c.1193G>T	c.(1192-1194)aGg>aTg	p.R398M	FSHR_ENST00000304421.4_Missense_Mutation_p.R372M|FSHR_ENST00000541117.1_Missense_Mutation_p.R134M|FSHR_ENST00000346173.3_Missense_Mutation_p.R336M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	398					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.R398M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CATAAGGAACCTGGGGACTGT	0.458									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1192-1194)AGG>ATG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						129.0	127.0	128.0					2																	49190767		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190767C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1193G>T	2.37:g.49190767C>A	ENSP00000384708:p.Arg398Met					FSHR_uc002rwx.2_Missense_Mutation_p.R336M|FSHR_uc010fbn.2_Missense_Mutation_p.R372M	p.R398M	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1267	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	398			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1193G>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802515	0.70682	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99425	1.0934	9	.	.	.	.	18.3052	0.90177	0.0:1.0:0.0:0.0	.	372;336;398	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	398;336;372;134	ENSP00000384708:R398M;ENSP00000333908:R336M;ENSP00000306780:R372M;ENSP00000444172:R134M	.	R	-	2	0	FSHR	49044271	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.651000	0.83577	2.801000	0.96364	0.655000	0.94253	AGG		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			20	52	1	0	4.96729e-08	0.008871	5.9827e-08	20	52				
NRXN1	9378	broad.mit.edu	37	2	50724546	50724546	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:50724546G>T	ENST00000406316.2	-	14	4280	c.2804C>A	c.(2803-2805)aCa>aAa	p.T935K	NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000406859.3_Missense_Mutation_p.T935K|NRXN1_ENST00000401669.2_Missense_Mutation_p.T935K|NRXN1_ENST00000402717.3_Missense_Mutation_p.T927K|NRXN1_ENST00000405472.3_Missense_Mutation_p.T927K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.T975K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	935	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T976K(1)|p.T975K(1)|p.T935K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGGGATGTTGTCTTGAACTG	0.393																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2923-2925)ACA>AAA		neurexin 1 isoform alpha2 precursor							106.0	100.0	102.0					2																	50724546		1886	4127	6013	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724546G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2804C>A	2.37:g.50724546G>T	ENSP00000384311:p.Thr935Lys					NRXN1_uc002rxb.3_Missense_Mutation_p.T607K|NRXN1_uc002rxe.3_Missense_Mutation_p.T935K|NRXN1_uc002rxc.1_RNA	p.T975K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4401	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2924C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153692	0.94645	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	H	0.96748	3.875	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.993	D;D;D	0.81914	0.991;0.995;0.963	D	0.97391	0.9989	10	0.87932	D	0	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	975;935;927	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	975;935;927;935;976;927;935	ENSP00000385142:T975K;ENSP00000384311:T935K;ENSP00000434015:T927K;ENSP00000385017:T935K;ENSP00000385434:T927K;ENSP00000385681:T935K	ENSP00000385017:T935K	T	-	2	0	NRXN1	50578050	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	2.906000	0.99361	0.655000	0.94253	ACA		0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			29	45	1	0	1.77063e-15	0.005443	2.45078e-15	29	45				
NRXN1	9378	broad.mit.edu	37	2	50847242	50847242	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:50847242A>G	ENST00000406316.2	-	8	2714	c.1238T>C	c.(1237-1239)tTt>tCt	p.F413S	NRXN1_ENST00000406859.3_Missense_Mutation_p.F413S|NRXN1_ENST00000401669.2_Missense_Mutation_p.F413S|NRXN1_ENST00000402717.3_Missense_Mutation_p.F405S|NRXN1_ENST00000405472.3_Missense_Mutation_p.F405S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.F453S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	413	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.F453S(1)|p.F413S(1)|p.F454S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AACATAGAAAAAGTCATCAGA	0.473																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1357-1359)TTT>TCT		neurexin 1 isoform alpha2 precursor							68.0	68.0	68.0					2																	50847242		2026	4218	6244	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50847242A>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1238T>C	2.37:g.50847242A>G	ENSP00000384311:p.Phe413Ser					NRXN1_uc002rxb.3_Missense_Mutation_p.F85S|NRXN1_uc002rxe.3_Missense_Mutation_p.F413S|NRXN1_uc002rxc.1_RNA	p.F453S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2835	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1358T>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.385197	0.42308	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	6.16	6.16	0.99307	.	0.049871	0.85682	D	0.000000	T	0.80665	0.4666	L	0.45228	1.405	0.42513	D	0.992972	P;D;D	0.89917	0.944;0.991;1.0	P;P;D	0.91635	0.478;0.831;0.999	T	0.75385	-0.3336	10	0.11794	T	0.64	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	453;413;405	Q9ULB1-3;F8WB18;A7E294	.;.;.	S	453;413;405;413;454;405;413	ENSP00000385142:F453S;ENSP00000384311:F413S;ENSP00000434015:F405S;ENSP00000385017:F413S;ENSP00000385434:F405S;ENSP00000385681:F413S	ENSP00000385017:F413S	F	-	2	0	NRXN1	50700746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.519000	0.81809	2.367000	0.80283	0.528000	0.53228	TTT		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	33	0	0	0	0.008291	0	10	33				
VRK2	7444	broad.mit.edu	37	2	58366863	58366863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:58366863C>T	ENST00000435505.2	+	14	1664	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	VRK2_ENST00000412104.2_Nonsense_Mutation_p.Q307*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.Q284*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.Q307*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.Q307*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q307*(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCAAACTATCAAGCCCTCAA	0.348																																							uc002rzo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(919-921)CAA>TAA		vaccinia related kinase 2 isoform 2							76.0	70.0	72.0					2																	58366863		2203	4300	6503	SO:0001587	stop_gained	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58366863C>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.919C>T	2.37:g.58366863C>T	ENSP00000408002:p.Gln307*					VRK2_uc010fcb.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzs.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzr.2_Nonsense_Mutation_p.Q307*|VRK2_uc010fcc.2_Nonsense_Mutation_p.Q189*|VRK2_uc002rzv.2_Nonsense_Mutation_p.Q307*|VRK2_uc010fcd.2_Nonsense_Mutation_p.Q284*|VRK2_uc002rzp.2_Nonsense_Mutation_p.Q307*|VRK2_uc010ypg.1_Nonsense_Mutation_p.Q307*|VRK2_uc002rzq.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzu.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzt.2_Nonsense_Mutation_p.Q189*	p.Q307*	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			14	1664	+			307			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	c.919C>T	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	37	6.076542	0.97262	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	.	.	.	5.87	3.97	0.46021	.	0.333934	0.36167	N	0.002743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-5.6505	16.1807	0.81895	0.0:0.6505:0.3495:0.0	.	.	.	.	X	307;307;307;307;307;284	.	ENSP00000342381:Q307X	Q	+	1	0	VRK2	58220367	0.994000	0.37717	0.995000	0.50966	0.936000	0.57629	0.232000	0.17891	1.610000	0.50200	0.655000	0.94253	CAA		0.348	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		13	61	0	0	0	0.001368	0	13	61				
BMP10	27302	broad.mit.edu	37	2	69098276	69098276	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:69098276G>T	ENST00000295379.1	-	1	373	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	72					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P72H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ATCCTGCGTGGGGATGTCAGA	0.473																																							uc002sez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(214-216)CCC>CAC		bone morphogenetic protein 10 preproprotein							165.0	154.0	158.0					2																	69098276		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69098276G>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.215C>A	2.37:g.69098276G>T	ENSP00000295379:p.Pro72His						p.P72H	NM_014482	NP_055297	O95393	BMP10_HUMAN			1	374	-			72					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.215C>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438890	0.83885	.	.	ENSG00000163217	ENST00000295379	D	0.91068	-2.78	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.188248	0.47852	D	0.000208	D	0.95082	0.8407	M	0.79475	2.455	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.95295	0.8398	10	0.87932	D	0	.	18.015	0.89236	0.0:0.0:1.0:0.0	.	72	O95393	BMP10_HUMAN	H	72	ENSP00000295379:P72H	ENSP00000295379:P72H	P	-	2	0	BMP10	68951780	1.000000	0.71417	0.952000	0.39060	0.968000	0.65278	4.314000	0.59166	2.808000	0.96608	0.655000	0.94253	CCC		0.473	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		69	125	1	0	5.00936e-31	0.00361	7.80028e-31	69	125				
TIA1	7072	broad.mit.edu	37	2	70451749	70451749	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:70451749C>A	ENST00000433529.2	-	7	621	c.411G>T	c.(409-411)gtG>gtT	p.V137V	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Silent_p.V137V|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000445587.1_Silent_p.V126V|TIA1_ENST00000415783.2_Silent_p.V126V|TIA1_ENST00000416149.2_Silent_p.V137V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	137	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.V137V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGTCTTTTACCACTCGGGCAT	0.388																																							uc002sgj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(409-411)GTG>GTT		TIA1 cytotoxic granule-associated RNA binding							134.0	122.0	126.0					2																	70451749		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70451749C>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.411G>T	2.37:g.70451749C>A						TIA1_uc002sgk.3_Silent_p.V126V|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Silent_p.V137V	p.V137V	NM_022173	NP_071505	P31483	TIA1_HUMAN			7	628	-			137			RRM 2.		Q53SS9	Silent	SNP	ENST00000433529.2	37	c.411G>T	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239414	0.10023	.	.	ENSG00000116001	ENST00000361692	.	.	.	5.14	3.11	0.35812	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56829	-0.7914	4	.	.	.	-10.6916	10.2055	0.43109	0.1447:0.7725:0.0:0.0827	.	.	.	.	C	118	.	.	G	-	1	0	TIA1	70305253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.245000	0.32790	1.147000	0.42369	0.561000	0.74099	GGT		0.388	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		9	49	1	0	1.12685e-05	0.004482	1.28446e-05	9	49				
ALMS1	7840	broad.mit.edu	37	2	73659341	73659341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:73659341G>T	ENST00000264448.6	+	7	1465	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.E452*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E410*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	452					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E452*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGAGTCGGAATATCACTC	0.393																																							uc002sje.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(1357-1359)GAA>TAA		Alstrom syndrome 1							96.0	90.0	92.0					2																	73659341		1854	4094	5948	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73659341G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1354G>T	2.37:g.73659341G>T	ENSP00000264448:p.Glu452*					ALMS1_uc002sjf.1_Nonsense_Mutation_p.E410*	p.E453*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			8	1468	+			452					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.1357G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657104	0.96724	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.41	4.41	0.53225	.	0.287039	0.25205	N	0.032348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.8049	0.57607	0.0:0.0:1.0:0.0	.	.	.	.	X	410;452;452	.	ENSP00000264448:E452X	E	+	1	0	ALMS1	73512849	0.258000	0.24033	0.705000	0.30386	0.632000	0.37999	2.065000	0.41442	2.745000	0.94114	0.462000	0.41574	GAA		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		22	74	1	0	1.50039e-11	0.001882	1.94404e-11	22	74				
ALMS1	7840	broad.mit.edu	37	2	73679254	73679254	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:73679254A>G	ENST00000264448.6	+	8	5708	c.5597A>G	c.(5596-5598)gAt>gGt	p.D1866G	ALMS1_ENST00000409009.1_Missense_Mutation_p.D1824G|ALMS1_ENST00000377715.1_Missense_Mutation_p.D1866G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1866	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D1866G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGTTGCCAGATCTTACTGAA	0.468																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5602-5604)GAT>GGT		Alstrom syndrome 1							69.0	65.0	66.0					2																	73679254		1861	4093	5954	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73679254A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5597A>G	2.37:g.73679254A>G	ENSP00000264448:p.Asp1866Gly					ALMS1_uc002sjf.1_Missense_Mutation_p.D1824G|ALMS1_uc002sjg.2_Missense_Mutation_p.D1254G|ALMS1_uc002sjh.1_Missense_Mutation_p.D1254G	p.D1868G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5714	+			1866			29.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5603A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719786	0.68844	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.35421	2.19;2.19;1.31	4.39	0.606	0.17559	.	0.720518	0.12503	N	0.463177	T	0.44993	0.1320	L	0.57536	1.79	0.25989	N	0.982276	D;P;D	0.65815	0.965;0.855;0.995	P;B;D	0.63877	0.758;0.269;0.919	T	0.32161	-0.9917	10	0.66056	D	0.02	.	1.5982	0.02669	0.5555:0.1783:0.095:0.1711	.	1866;1824;1866	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	1824;1866;1866	ENSP00000386627:D1824G;ENSP00000264448:D1866G;ENSP00000366944:D1866G	ENSP00000264448:D1866G	D	+	2	0	ALMS1	73532762	0.730000	0.28100	0.377000	0.26055	0.758000	0.43043	0.500000	0.22562	0.105000	0.17753	-0.379000	0.06801	GAT		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		23	77	0	0	0	0.001882	0	23	77				
REG3A	5068	broad.mit.edu	37	2	79385781	79385781	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:79385781G>A	ENST00000409839.3	-	3	227	c.191C>T	c.(190-192)gCa>gTa	p.A64V	REG3A_ENST00000305165.2_Missense_Mutation_p.A64V|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.A64V	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	64	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.A64V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACTCACATCTGCATCTGTCCA	0.537																																							uc002sod.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(190-192)GCA>GTA		pancreatitis-associated protein precursor							131.0	119.0	123.0					2																	79385781		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385781G>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.191C>T	2.37:g.79385781G>A	ENSP00000386630:p.Ala64Val					REG3A_uc002soe.1_Missense_Mutation_p.A64V|REG3A_uc002sof.1_Missense_Mutation_p.A64V	p.A64V	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	446	-			64			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.191C>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441209	0.63067	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.38887	1.11;1.11;1.11	4.02	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000046	T	0.68100	0.2964	H	0.96576	3.845	0.24754	N	0.992965	D	0.67145	0.996	P	0.59761	0.863	T	0.64271	-0.6447	10	0.87932	D	0	.	7.7014	0.28625	0.1143:0.0:0.8857:0.0	.	64	Q06141	REG3A_HUMAN	V	64	ENSP00000386630:A64V;ENSP00000377456:A64V;ENSP00000304311:A64V	ENSP00000304311:A64V	A	-	2	0	REG3A	79239289	0.228000	0.23718	0.319000	0.25293	0.044000	0.14063	2.494000	0.45329	1.281000	0.44480	0.603000	0.83216	GCA		0.537	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		36	52	0	0	0	0.003755	0	36	52				
CTNNA2	1496	broad.mit.edu	37	2	80101247	80101247	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:80101247G>T	ENST00000402739.4	+	5	636	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	CTNNA2_ENST00000540488.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G245W|CTNNA2_ENST00000466387.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G211W	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	211					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G211W(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCGCCCGAGGGGCTCTGAA	0.507																																							uc010ysh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(631-633)GGG>TGG		catenin, alpha 2 isoform 1							43.0	47.0	46.0					2																	80101247		2032	4187	6219	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101247G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.631G>T	2.37:g.80101247G>T	ENSP00000384638:p.Gly211Trp					CTNNA2_uc010yse.1_Missense_Mutation_p.G211W|CTNNA2_uc010ysf.1_Missense_Mutation_p.G211W|CTNNA2_uc010ysg.1_Missense_Mutation_p.G211W	p.G211W	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	636	+			211					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.631G>T		.	.	.	.	.	.	.	.	.	.	G	27.7	4.853000	0.91355	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.982	T	0.66763	-0.5841	10	0.87932	D	0	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	211;211;211	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	W	211;211;245;211;211;211	ENSP00000418191:G211W;ENSP00000419295:G211W;ENSP00000355398:G245W;ENSP00000384638:G211W;ENSP00000444675:G211W;ENSP00000441705:G211W	ENSP00000355398:G245W	G	+	1	0	CTNNA2	79954755	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	9.869000	0.99810	2.693000	0.91896	0.650000	0.86243	GGG		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	46	1	0	5.50884e-06	0.001368	6.32067e-06	13	46				
LRRTM1	347730	broad.mit.edu	37	2	80529979	80529979	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:80529979C>G	ENST00000295057.3	-	2	1622	c.966G>C	c.(964-966)gtG>gtC	p.V322V	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V322V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	322	LRRCT.				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)		p.V322V(2)		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						CTAGGGCACACACGTTGCGCC	0.637										HNSCC(69;0.2)																													uc002sok.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(964-966)GTG>GTC		leucine rich repeat transmembrane neuronal 1							41.0	39.0	39.0					2																	80529979		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529979C>G	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.966G>C	2.37:g.80529979C>G		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.V322V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1236	-			322			LRRCT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.966G>C	CCDS1966.1																																																																																				0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	21	0	0	0	0.00308	0	8	21				
MAL	4118	broad.mit.edu	37	2	95713751	95713751	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:95713751C>T	ENST00000309988.4	+	2	250	c.141C>T	c.(139-141)ccC>ccT	p.P47P	MAL_ENST00000353004.3_Silent_p.P47P|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.P47P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCCTGGTGCCCTGGCCCCTGG	0.632																																							uc002stx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CCC>CCT		T-lymphocyte maturation-associated protein							73.0	67.0	69.0					2																	95713751		2202	4300	6502	SO:0001819	synonymous_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713751C>T		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.141C>T	2.37:g.95713751C>T						MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.P47P|MAL_uc002sua.1_Intron	p.P47P	NM_002371	NP_002362	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	200	+			47			MARVEL.|Extracellular (Potential).		Q6FH77	Silent	SNP	ENST00000309988.4	37	c.141C>T	CCDS2006.1																																																																																				0.632	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		8	68	0	0	0	0.004482	0	8	68				
NCAPH	23397	broad.mit.edu	37	2	97007797	97007797	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:97007797C>G	ENST00000240423.4	+	3	325	c.282C>G	c.(280-282)gaC>gaG	p.D94E	NCAPH_ENST00000455200.1_Missense_Mutation_p.D83E|NCAPH_ENST00000427946.1_5'UTR	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	94					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D94E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTATTGACATTTCAGCTA	0.368																																							uc002svz.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(280-282)GAC>GAG		non-SMC condensin I complex, subunit H							95.0	84.0	88.0					2																	97007797		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007797C>G	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.282C>G	2.37:g.97007797C>G	ENSP00000240423:p.Asp94Glu					NCAPH_uc010fhu.1_Missense_Mutation_p.D70E|NCAPH_uc010fhv.1_Missense_Mutation_p.D83E|NCAPH_uc010yum.1_Missense_Mutation_p.D70E|NCAPH_uc010fhw.1_Missense_Mutation_p.D83E|NCAPH_uc010yun.1_5'UTR|NCAPH_uc002swa.1_Intron	p.D94E	NM_015341	NP_056156	Q15003	CND2_HUMAN			3	366	+		Ovarian(717;0.0221)	94					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.282C>G	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.482791	0.26598	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.47	-10.9	0.00192	.	0.416757	0.26207	N	0.025702	T	0.14098	0.0341	N	0.16478	0.41	0.20821	N	0.999849	B;B;B;B	0.21606	0.032;0.032;0.004;0.058	B;B;B;B	0.22152	0.038;0.038;0.023;0.038	T	0.38714	-0.9648	10	0.02654	T	1	-19.0652	9.169	0.37069	0.2111:0.5171:0.0:0.2718	.	70;83;83;94	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	E	94;83;94;83	ENSP00000240423:D94E;ENSP00000405237:D83E;ENSP00000401227:D94E;ENSP00000407308:D83E	ENSP00000240423:D94E	D	+	3	2	NCAPH	96371524	0.000000	0.05858	0.001000	0.08648	0.317000	0.28152	-2.512000	0.00957	-1.670000	0.01468	-0.966000	0.02617	GAC		0.368	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		4	63	0	0	0	0.009096	0	4	63				
CNGA3	1261	broad.mit.edu	37	2	99008327	99008327	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:99008327G>T	ENST00000272602.2	+	6	606	c.567G>T	c.(565-567)agG>agT	p.R189S	CNGA3_ENST00000393504.1_Splice_Site_p.R189S|CNGA3_ENST00000436404.2_Splice_Site_p.R171S|CNGA3_ENST00000409937.1_Splice_Site_p.R193S			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	189					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.R189S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTTCTTTAGGGCCTGTTTCG	0.567																																							uc002syt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(565-567)AGG>AGT		cyclic nucleotide gated channel alpha 3 isoform							191.0	136.0	155.0					2																	99008327		2203	4300	6503	SO:0001630	splice_region_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99008327G>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.567-1G>T	2.37:g.99008327G>T						CNGA3_uc002syu.2_Missense_Mutation_p.R171S|CNGA3_uc010fij.2_Missense_Mutation_p.R193S	p.R189S	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			7	984	+			189			Helical; (Potential).		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.567G>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202960	0.58234	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.28	2.33	0.28932	.	0.000000	0.85682	D	0.000000	D	0.98027	0.9350	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.83275	0.996;0.996;0.913	D	0.96986	0.9718	9	.	.	.	.	5.5992	0.17345	0.4513:0.0:0.5487:0.0	.	193;171;189	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	S	189;171;189;193	ENSP00000377140:R189S;ENSP00000410070:R171S;ENSP00000272602:R189S;ENSP00000386761:R193S	.	R	+	3	2	CNGA3	98374759	1.000000	0.71417	0.999000	0.59377	0.570000	0.35934	1.123000	0.31308	0.823000	0.34589	-0.136000	0.14681	AGG		0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	Missense_Mutation	14	61	1	0	7.93312e-07	0.00245	9.26062e-07	14	61				
SLC9A2	6549	broad.mit.edu	37	2	103299840	103299840	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:103299840C>T	ENST00000233969.2	+	4	1267	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	375					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.F375F(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTTGATCTTCATCTTCATGG	0.493																																							uc002tca.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1123-1125)TTC>TTT		solute carrier family 9 (sodium/hydrogen							189.0	152.0	164.0					2																	103299840		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103299840C>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1125C>T	2.37:g.103299840C>T							p.F375F	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			4	1267	+			375			Helical; Name=J/M8; (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.1125C>T	CCDS2062.1																																																																																				0.493	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			9	98	0	0	0	0.008291	0	9	98				
UXS1	80146	broad.mit.edu	37	2	106717570	106717570	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:106717570G>C	ENST00000409501.3	-	12	970	c.913C>G	c.(913-915)Cta>Gta	p.L305V	UXS1_ENST00000283148.7_Missense_Mutation_p.L310V|UXS1_ENST00000409032.1_Missense_Mutation_p.L137V|UXS1_ENST00000540130.1_Missense_Mutation_p.L248V|UXS1_ENST00000428048.2_Missense_Mutation_p.L149V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	305					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.L310V(1)|p.L305V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CCATTCACTAGATCGCTGGAA	0.552																																							uc002tdm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(913-915)CTA>GTA		UDP-glucuronate decarboxylase 1							79.0	83.0	82.0					2																	106717570		2047	4206	6253	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106717570G>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.913C>G	2.37:g.106717570G>C	ENSP00000387019:p.Leu305Val					UXS1_uc002tdl.2_Missense_Mutation_p.L137V|UXS1_uc002tdn.2_Missense_Mutation_p.L310V|UXS1_uc002tdo.2_Missense_Mutation_p.L248V|UXS1_uc010ywh.1_Missense_Mutation_p.L149V	p.L305V	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			12	1011	-			305			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.913C>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139353	0.56936	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952	D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.65	4.76	0.60689	NAD-dependent epimerase/dehydratase (1);	0.000000	0.64402	D	0.000001	D	0.93109	0.7806	L	0.41356	1.27	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.92787	0.6245	10	0.87932	D	0	-7.7648	10.2457	0.43339	0.1467:0.0:0.8533:0.0	.	149;310;305	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	V	310;248;305;137;149;149	ENSP00000283148:L310V;ENSP00000438265:L248V;ENSP00000387019:L305V;ENSP00000387096:L137V;ENSP00000394334:L149V;ENSP00000416656:L149V	ENSP00000283148:L310V	L	-	1	2	UXS1	106084002	1.000000	0.71417	0.801000	0.32222	0.325000	0.28411	6.331000	0.72929	2.659000	0.90383	0.655000	0.94253	CTA		0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		3	82	0	0	0	0.004672	0	3	82				
RANBP2	5903	broad.mit.edu	37	2	109381301	109381301	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:109381301A>G	ENST00000283195.6	+	20	4432	c.4306A>G	c.(4306-4308)Att>Gtt	p.I1436V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1436					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I1436V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATCTAGGTGCATTGCGTGTCA	0.363																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4306-4308)ATT>GTT		RAN binding protein 2							90.0	88.0	89.0					2																	109381301		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381301A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4306A>G	2.37:g.109381301A>G	ENSP00000283195:p.Ile1436Val						p.I1436V	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4432	+			1436			RanBP2-type 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4306A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.647991	0.00785	.	.	ENSG00000153201	ENST00000283195	T	0.49139	0.79	5.41	4.25	0.50352	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.27832	0.0685	N	0.13235	0.315	0.19775	N	0.99995	B	0.16166	0.016	B	0.15870	0.014	T	0.17228	-1.0376	9	0.07813	T	0.8	-1.0975	11.0392	0.47820	0.9259:0.0:0.0741:0.0	.	1436	P49792	RBP2_HUMAN	V	1436	ENSP00000283195:I1436V	ENSP00000283195:I1436V	I	+	1	0	RANBP2	108747733	0.012000	0.17670	0.319000	0.25293	0.907000	0.53573	0.288000	0.18939	0.872000	0.35775	0.533000	0.62120	ATT		0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		28	63	0	0	0	0.004656	0	28	63				
RANBP2	5903	broad.mit.edu	37	2	109388295	109388295	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:109388295G>C	ENST00000283195.6	+	21	8114	c.7988G>C	c.(7987-7989)aGa>aCa	p.R2663T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2663	2 X 50 AA approximate repeats.|Interaction with UBE2I.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R2663T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TACAAGAATAGACCAGATTAT	0.373																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7987-7989)AGA>ACA		RAN binding protein 2							143.0	153.0	150.0					2																	109388295		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388295G>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7988G>C	2.37:g.109388295G>C	ENSP00000283195:p.Arg2663Thr						p.R2663T	NM_006267	NP_006258	P49792	RBP2_HUMAN			21	8114	+			2663			Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7988G>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360087	0.61403	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27256	1.68	5.37	-1.54	0.08584	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.20618	0.0496	L	0.54323	1.7	0.23435	N	0.997688	P	0.36354	0.549	B	0.34038	0.174	T	0.23048	-1.0199	9	0.13853	T	0.58	-6.6205	12.281	0.54762	0.7765:0.0:0.2235:0.0	.	2663	P49792	RBP2_HUMAN	T	1687;2663	ENSP00000283195:R2663T	ENSP00000283195:R2663T	R	+	2	0	RANBP2	108754727	0.977000	0.34250	0.969000	0.41365	0.991000	0.79684	1.065000	0.30592	-0.269000	0.09298	0.467000	0.42956	AGA		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	291	0	0	0	0.001168	0	6	291				
INSIG2	51141	broad.mit.edu	37	2	118864367	118864367	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:118864367A>G	ENST00000245787.4	+	4	630	c.424A>G	c.(424-426)Att>Gtt	p.I142V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	142					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.I142V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGCACTATCCATTGGACTGTG	0.398																																							uc002tlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(424-426)ATT>GTT		insulin induced protein 2							239.0	219.0	226.0					2																	118864367		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864367A>G	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.424A>G	2.37:g.118864367A>G	ENSP00000245787:p.Ile142Val					INSIG2_uc010yye.1_Missense_Mutation_p.I34V|INSIG2_uc002tll.2_Missense_Mutation_p.I34V	p.I142V	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN			4	630	+			142			Helical; (Potential).		A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.424A>G	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	A	5.410	0.260789	0.10239	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	3.21	0.36854	.	0.215406	0.48286	N	0.000185	T	0.27063	0.0663	N	0.13327	0.33	0.38418	D	0.946115	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07578	-1.0765	9	0.09843	T	0.71	.	4.8534	0.13547	0.7156:0.0:0.1479:0.1366	.	34;142	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	V	142	.	ENSP00000245787:I142V	I	+	1	0	INSIG2	118580837	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.909000	0.28558	0.547000	0.28938	-0.386000	0.06593	ATT		0.398	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		45	53	0	0	0	0.002852	0	45	53				
MARCO	8685	broad.mit.edu	37	2	119739773	119739773	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:119739773G>C	ENST00000327097.4	+	11	1078	c.943G>C	c.(943-945)Gtg>Ctg	p.V315L	MARCO_ENST00000541757.1_Missense_Mutation_p.V237L	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	315	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V315L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCTGGTGCAGTGGGACACCC	0.637																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(943-945)GTG>CTG		macrophage receptor with collagenous structure							57.0	61.0	60.0					2																	119739773		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739773G>C	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.943G>C	2.37:g.119739773G>C	ENSP00000318916:p.Val315Leu					MARCO_uc010yyf.1_Missense_Mutation_p.V237L	p.V315L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			11	1075	+			315			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.943G>C	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617317	0.28801	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;D	0.93488	2.14;-3.23	4.81	2.87	0.33458	.	0.929598	0.09115	N	0.846489	D	0.88032	0.6328	L	0.28556	0.865	0.09310	N	1	B	0.25105	0.118	B	0.22386	0.039	T	0.76080	-0.3090	9	.	.	.	.	10.5989	0.45354	0.0:0.4355:0.5645:0.0	.	315	Q9UEW3	MARCO_HUMAN	L	315;315;237	ENSP00000318916:V315L;ENSP00000441769:V237L	.	V	+	1	0	MARCO	119456243	0.000000	0.05858	0.002000	0.10522	0.455000	0.32408	0.151000	0.16283	1.205000	0.43262	0.462000	0.41574	GTG		0.637	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		27	34	0	0	0	0.004656	0	27	34				
AMER3	205147	broad.mit.edu	37	2	131520777	131520777	+	Nonsense_Mutation	SNP	G	G	T	rs374958959		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:131520777G>T	ENST00000423981.1	+	2	1242	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E378*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	378					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E378*(1)									CGAGCAGCCCGAATCCGTGTC	0.637																																							uc002trw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1132-1134)GAA>TAA		hypothetical protein LOC205147							73.0	56.0	62.0					2																	131520777		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131520777G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1132G>T	2.37:g.131520777G>T	ENSP00000392700:p.Glu378*					FAM123C_uc010fmv.2_Nonsense_Mutation_p.E378*|FAM123C_uc010fms.1_Nonsense_Mutation_p.E378*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.E378*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.E378*	p.E378*	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1322	+	Colorectal(110;0.1)		378					B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1132G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	38	6.813430	0.97857	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	5.4	5.4	0.78164	.	0.070422	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0672	0.53594	0.0:0.0:0.828:0.172	.	.	.	.	X	378	.	ENSP00000314914:E378X	E	+	1	0	FAM123C	131237247	1.000000	0.71417	0.041000	0.18516	0.735000	0.41995	8.421000	0.90259	2.707000	0.92482	0.561000	0.74099	GAA		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		16	23	1	0	6.49762e-13	0.006122	8.66349e-13	16	23				
R3HDM1	23518	broad.mit.edu	37	2	136362452	136362452	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:136362452A>T	ENST00000264160.4	+	3	407	c.37A>T	c.(37-39)Act>Tct	p.T13S	R3HDM1_ENST00000409478.1_Missense_Mutation_p.T13S|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000329971.3_Missense_Mutation_p.T13S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.T13S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	13							poly(A) RNA binding (GO:0044822)	p.T13S(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAAAGATGAAACTGCAACAAT	0.333																																							uc002tuo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(37-39)ACT>TCT		R3H domain containing 1							77.0	80.0	79.0					2																	136362452		2203	4298	6501	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136362452A>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.37A>T	2.37:g.136362452A>T	ENSP00000264160:p.Thr13Ser					R3HDM1_uc010fni.2_Missense_Mutation_p.T11S|R3HDM1_uc002tup.2_Intron	p.T13S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	3	407	+			13					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.37A>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.68|13.68	2.310475|2.310475	0.40895|0.40895	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000456040|ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000436436;ENST00000409606	.|T;T;T;T	.|0.34472	.|1.36;1.51;1.36;1.51	5.74|5.74	4.57|4.57	0.56435|0.56435	.|.	.|0.260739	.|0.37136	.|N	.|0.002238	T|T	0.22820|0.22820	0.0551|0.0551	L|L	0.31664|0.31664	0.95|0.95	0.26778|0.26778	N|N	0.969657|0.969657	.|B;B	.|0.12630	.|0.006;0.006	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.22382|0.22382	-1.0218|-1.0218	5|10	.|0.09590	.|T	.|0.72	-8.6669|-8.6669	9.8722|9.8722	0.41182|0.41182	0.6978:0.0:0.0:0.3022|0.6978:0.0:0.0:0.3022	.|.	.|13;13	.|E9PBB4;Q15032	.|.;R3HD1_HUMAN	N|S	9|13	.|ENSP00000386457:T13S;ENSP00000264160:T13S;ENSP00000331396:T13S;ENSP00000387010:T13S	.|ENSP00000264160:T13S	K|T	+|+	3|1	2|0	R3HDM1|R3HDM1	136078922|136078922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.122000|4.122000	0.57910|0.57910	0.976000|0.976000	0.38417|0.38417	0.455000|0.455000	0.32223|0.32223	AAA|ACT		0.333	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		25	33	0	0	0	0.00333	0	25	33				
ARHGAP15	55843	broad.mit.edu	37	2	143913138	143913138	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:143913138A>T	ENST00000295095.6	+	2	246	c.79A>T	c.(79-81)Aga>Tga	p.R27*	ARHGAP15_ENST00000409869.1_Nonsense_Mutation_p.R27*	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	27					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.R27*(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGTGCAAATGAGAATCAAAAA	0.438																																							uc002tvm.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(79-81)AGA>TGA		ARHGAP15							97.0	84.0	88.0					2																	143913138		2203	4300	6503	SO:0001587	stop_gained	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913138A>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.79A>T	2.37:g.143913138A>T	ENSP00000295095:p.Arg27*					ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.R27*	p.R27*	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	230	+			27					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Nonsense_Mutation	SNP	ENST00000295095.6	37	c.79A>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	39	7.429013	0.98279	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.422	0.83766	1.0:0.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000295095:R27X	R	+	1	2	ARHGAP15	143629608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.078000	0.64425	2.270000	0.75569	0.533000	0.62120	AGA		0.438	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		13	26	0	0	0	0.00245	0	13	26				
NEB	4703	broad.mit.edu	37	2	152466583	152466584	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:152466583_152466584GG>TT	ENST00000172853.10	-	77	11487_11488	c.11340_11341CC>AA	c.(11338-11343)gcCCag>gcAAag	p.Q3781K	NEB_ENST00000427231.2_Missense_Mutation_p.Q4024K|NEB_ENST00000397345.3_Missense_Mutation_p.Q4024K|NEB_ENST00000603639.1_Missense_Mutation_p.Q4024K|NEB_ENST00000409198.1_Missense_Mutation_p.Q3781K|NEB_ENST00000604864.1_Missense_Mutation_p.Q4024K			P20929	NEBU_HUMAN	nebulin	3781					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q4024K(1)|p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAATGCTCTGGGCTCCAATGT	0.406																																							uc010fnx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(11338-11343)GCCCAG>GCAAAG		nebulin isoform 3																																				SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466583_152466584GG>TT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11340_11341delinsTT	2.37:g.152466583_152466584delinsTT	ENSP00000172853:p.Gln3781Lys						p.Q3781K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	77	11531_11532	-			3781			Nebulin 104.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	DNP	ENST00000172853.10	37	c.11340_11341CC>AA																																																																																					0.406	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		23	19	0	0	0	0.004672	0	23	19				
NEB	4703	broad.mit.edu	37	2	152470891	152470891	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:152470891C>A	ENST00000172853.10	-	73	10918	c.10771G>T	c.(10771-10773)Gta>Tta	p.V3591L	NEB_ENST00000427231.2_Missense_Mutation_p.V3834L|NEB_ENST00000397345.3_Missense_Mutation_p.V3834L|NEB_ENST00000603639.1_Missense_Mutation_p.V3834L|NEB_ENST00000409198.1_Missense_Mutation_p.V3591L|NEB_ENST00000604864.1_Missense_Mutation_p.V3834L			P20929	NEBU_HUMAN	nebulin	3591					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V3591L(1)|p.V3834L(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGCTTACAAGGATCTGA	0.527																																							uc010fnx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10771-10773)GTA>TTA		nebulin isoform 3							219.0	214.0	216.0					2																	152470891		2063	4218	6281	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152470891C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10771G>T	2.37:g.152470891C>A	ENSP00000172853:p.Val3591Leu						p.V3591L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10962	-			3591			Nebulin 98.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10771G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.129223	0.94473	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.76328	2.33	0.80722	D	1	P	0.51057	0.941	P	0.46685	0.524	T	0.36456	-0.9747	10	0.36615	T	0.2	.	19.6058	0.95582	0.0:1.0:0.0:0.0	.	3591	P20929	NEBU_HUMAN	L	3591;3834;3834;3591	ENSP00000386259:V3591L;ENSP00000380505:V3834L;ENSP00000416578:V3834L;ENSP00000172853:V3591L	ENSP00000172853:V3591L	V	-	1	0	NEB	152179137	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	5.968000	0.70413	2.722000	0.93159	0.655000	0.94253	GTA		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		105	120	1	0	4.60726e-43	0.00361	7.33126e-43	105	120				
CYTIP	9595	broad.mit.edu	37	2	158300456	158300456	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:158300456G>C	ENST00000264192.3	-	1	198	c.77C>G	c.(76-78)tCt>tGt	p.S26C	CYTIP_ENST00000497432.1_Intron|AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	26					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)		p.S26C(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTGGAGTAAGAGCTATACGC	0.507																																							uc002tzj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(76-78)TCT>TGT		cytohesin 1 interacting protein							172.0	155.0	161.0					2																	158300456		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300456G>C	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.77C>G	2.37:g.158300456G>C	ENSP00000264192:p.Ser26Cys					CYTIP_uc010zcl.1_Intron	p.S26C	NM_004288	NP_004279	O60759	CYTIP_HUMAN			1	149	-			26					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.77C>G	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284368	0.23392	.	.	ENSG00000115165	ENST00000264192	T	0.19532	2.14	5.72	3.61	0.41365	.	0.582008	0.17329	N	0.178208	T	0.15003	0.0362	N	0.24115	0.695	0.19300	N	0.999977	P	0.51791	0.948	B	0.43155	0.41	T	0.07481	-1.0770	10	0.66056	D	0.02	-2.6642	8.8217	0.35030	0.1957:0.0:0.8043:0.0	.	26	O60759	CYTIP_HUMAN	C	26	ENSP00000264192:S26C	ENSP00000264192:S26C	S	-	2	0	CYTIP	158008702	0.847000	0.29606	0.349000	0.25694	0.094000	0.18550	3.942000	0.56614	1.422000	0.47177	-0.136000	0.14681	TCT		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		9	90	0	0	0	0.006214	0	9	90				
SCN1A	6323	broad.mit.edu	37	2	166856287	166856287	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:166856287C>A	ENST00000303395.4	-	22	4284		c.e22-1		AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site|SCN1A_ENST00000375405.3_Splice_Site|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.?(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAATGTGGCCTATTAAGAAG	0.289																																							uc010zcz.1		NA																	2	Unknown(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.e22-1		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						171.0	165.0	167.0					2																	166856287		2203	4294	6497	SO:0001630	splice_region_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166856287C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4285-1G>T	2.37:g.166856287C>A						SCN1A_uc002udo.3_Splice_Site_p.A1298_splice|SCN1A_uc010fpk.2_Splice_Site_p.A1270_splice	p.A1418_splice	NM_006920	NP_008851	P35498	SCN1A_HUMAN			22	4270	-								E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	c.4252_splice	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409999	0.62399	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.341	0.94340	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166564533	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.773000	0.85462	2.643000	0.89663	0.467000	0.42956	.		0.289	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Intron	40	61	1	0	4.32679e-17	0.006999	6.14489e-17	40	61				
SCN1A	6323	broad.mit.edu	37	2	166901716	166901716	+	Missense_Mutation	SNP	C	C	T	rs200176684	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:166901716C>T	ENST00000303395.4	-	10	1498	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R500Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.R500Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R500Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	500					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R500Q(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCTTCCTCCGATTTCTTCT	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		18041	0.003		0.0	False		,,,				2504	0.0						uc010zcz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1498-1500)CGG>CAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						216.0	221.0	219.0					2																	166901716		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901716C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1499G>A	2.37:g.166901716C>T	ENSP00000303540:p.Arg500Gln					SCN1A_uc002udo.3_Missense_Mutation_p.R369Q|SCN1A_uc010fpk.2_Missense_Mutation_p.R369Q	p.R500Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1517	-			500					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1499G>A	CCDS54413.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.572068	0.86542	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	6.17	5.28	0.74379	Domain of unknown function DUF3451 (1);	0.282824	0.24856	N	0.035053	D	0.93488	0.7922	M	0.91510	3.215	0.42305	D	0.992195	B;B;B	0.29646	0.086;0.253;0.253	B;B;B	0.22753	0.014;0.041;0.041	D	0.92683	0.6160	10	0.66056	D	0.02	.	17.0721	0.86577	0.0:0.8729:0.1271:0.0	.	500;500;500	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	500	ENSP00000407030:R500Q;ENSP00000303540:R500Q;ENSP00000364554:R500Q;ENSP00000386312:R500Q	ENSP00000303540:R500Q	R	-	2	0	SCN1A	166609962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.228000	0.51270	1.585000	0.49928	0.655000	0.94253	CGG		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		25	178	0	0	0	0.00333	0	25	178				
SCN9A	6335	broad.mit.edu	37	2	167055686	167055686	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:167055686G>C	ENST00000409435.1	-	26	5462	c.5463C>G	c.(5461-5463)gtC>gtG	p.V1821V	SCN9A_ENST00000303354.6_Silent_p.V1822V|SCN9A_ENST00000375387.4_Silent_p.V1822V|SCN9A_ENST00000409672.1_Silent_p.V1810V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1821					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.V1810V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAATGAGCTGGACTTTGTTGG	0.468																																							uc010fpl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5428-5430)GTC>GTG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						113.0	118.0	116.0					2																	167055686		2203	4300	6503	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055686G>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5463C>G	2.37:g.167055686G>C						uc002udp.2_Intron	p.V1810V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5771	-			1821					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.5430C>G	CCDS46441.1																																																																																				0.468	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		29	149	0	0	0	0.008361	0	29	149				
XIRP2	129446	broad.mit.edu	37	2	168105070	168105070	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:168105070G>A	ENST00000409195.1	+	9	7257	c.7168G>A	c.(7168-7170)Gga>Aga	p.G2390R	XIRP2_ENST00000295237.9_Missense_Mutation_p.G2390R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2168R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2215					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G2390R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGCACAGTGGAGACTTCAT	0.478																																							uc002udx.2		NA																	1	Substitution - Missense(1)	p.G2390E(1)	lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7168-7170)GGA>AGA		xin actin-binding repeat containing 2 isoform 1							61.0	65.0	64.0					2																	168105070		1980	4148	6128	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105070G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7168G>A	2.37:g.168105070G>A	ENSP00000386840:p.Gly2390Arg					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G2215R|XIRP2_uc010fpq.2_Missense_Mutation_p.G2168R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.G2390R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7186	+			2215					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7168G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771150	0.31320	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02446	4.29;4.29;4.29	5.15	3.36	0.38483	.	0.771268	0.12368	N	0.475075	T	0.04907	0.0132	L	0.56769	1.78	0.09310	N	1	P;P;B	0.45078	0.766;0.85;0.225	B;B;B	0.43575	0.243;0.424;0.049	T	0.38542	-0.9656	10	0.25106	T	0.35	-3.7189	9.5288	0.39180	0.1709:0.0:0.8291:0.0	.	2215;2215;2168	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2390;2390;2168	ENSP00000386840:G2390R;ENSP00000295237:G2390R;ENSP00000387255:G2168R	ENSP00000295237:G2390R	G	+	1	0	XIRP2	167813316	0.007000	0.16637	0.006000	0.13384	0.908000	0.53690	1.179000	0.31993	0.761000	0.33130	0.655000	0.94253	GGA		0.478	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		38	62	0	0	0	0.005524	0	38	62				
DLX1	1745	broad.mit.edu	37	2	172952791	172952791	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:172952791G>C	ENST00000361725.4	+	3	1026	c.574G>C	c.(574-576)Gcg>Ccg	p.A192P	DLX1_ENST00000341900.6_Missense_Mutation_p.G125A|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	192					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.A192P(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCAGGGTGGGGCGGCTCTGGA	0.612																																							uc002uhl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GCG>CCG		distal-less homeobox 1 isoform 1							100.0	114.0	109.0					2																	172952791		2203	4300	6503	SO:0001583	missense	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172952791G>C	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.574G>C	2.37:g.172952791G>C	ENSP00000354478:p.Ala192Pro					DLX1_uc002uhm.2_Missense_Mutation_p.G125A	p.A192P	NM_178120	NP_835221	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	772	+			192					D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Missense_Mutation	SNP	ENST00000361725.4	37	c.574G>C	CCDS2247.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.027928|2.027928	0.35797|0.35797	.|.	.|.	ENSG00000144355|ENSG00000144355	ENST00000361725;ENST00000550686|ENST00000341900	D|.	0.92446|.	-3.04|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Homeodomain-like (1);|.	0.225320|.	0.45867|.	D|.	0.000321|.	T|T	0.51941|0.51941	0.1704|0.1704	.|.	.|.	.|.	0.48975|0.48975	D|D	0.999731|0.999731	B|B	0.16603|0.11235	0.018|0.004	B|B	0.17098|0.10450	0.017|0.005	T|T	0.44436|0.44436	-0.9328|-0.9328	8|6	.|.	.|.	.|.	-12.3547|-12.3547	18.4011|18.4011	0.90516|0.90516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	192|125	P56177|Q7Z724	DLX1_HUMAN|.	P|A	192;26|125	ENSP00000354478:A192P|.	.|.	A|G	+|+	1|2	0|0	DLX1|DLX1	172661037|172661037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	5.882000|5.882000	0.69714|0.69714	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	GCG|GGC		0.612	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		63	72	0	0	0	0.00361	0	63	72				
PDK1	5163	broad.mit.edu	37	2	173435551	173435551	+	Splice_Site	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:173435551A>T	ENST00000282077.3	+	8	1126	c.944A>T	c.(943-945)aAg>aTg	p.K315M	PDK1_ENST00000543905.1_Splice_Site_p.K239M|PDK1_ENST00000410055.1_Splice_Site_p.K315M|PDK1_ENST00000544863.1_Splice_Site_p.K160M|PDK1_ENST00000392571.2_Splice_Site_p.K335M			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	315	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.K315M(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TTGACTGTGAAGGTAAATGTG	0.368									Autosomal Dominant Polycystic Kidney Disease																														uc002uhr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(943-945)AAG>ATG		pyruvate dehydrogenase kinase 1 precursor							129.0	115.0	120.0					2																	173435551		2203	4300	6503	SO:0001630	splice_region_variant	5163	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173435551A>T	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.945+1A>T	2.37:g.173435551A>T						PDK1_uc010zdz.1_Missense_Mutation_p.K160M|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.K335M|PDK1_uc002uhs.2_Missense_Mutation_p.K315M|PDK1_uc010zeb.1_Missense_Mutation_p.K335M	p.K315M	NM_002610	NP_002601	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		8	1044	+			315			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.944A>T	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754478	0.89843	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.08	5.08	0.68730	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.85951	0.1464	10	0.87932	D	0	-22.4929	15.0164	0.71588	1.0:0.0:0.0:0.0	.	315;335	Q15118;E9PD65	PDK1_HUMAN;.	M	239;160;315;335;315	ENSP00000438567:K239M;ENSP00000437502:K160M;ENSP00000282077:K315M;ENSP00000376352:K335M;ENSP00000386985:K315M	ENSP00000282077:K315M	K	+	2	0	PDK1	173143797	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	2.145000	0.66743	0.482000	0.46254	AAG		0.368	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610	Missense_Mutation	19	20	0	0	0	0.006122	0	19	20				
CDCA7	83879	broad.mit.edu	37	2	174228182	174228182	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:174228182A>C	ENST00000347703.3	+	3	520	c.376A>C	c.(376-378)Aaa>Caa	p.K126Q	CDCA7_ENST00000392567.2_Missense_Mutation_p.K126Q|CDCA7_ENST00000306721.3_Missense_Mutation_p.K205Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.K84Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.K161Q	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	126					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)		p.K205Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAAGCAAAACAAAGCAATGGT	0.348																																							uc002uid.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)AAA>CAA		cell division cycle associated 7 isoform 2							47.0	55.0	52.0					2																	174228182		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174228182A>C	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.376A>C	2.37:g.174228182A>C	ENSP00000272789:p.Lys126Gln					CDCA7_uc002uic.1_Missense_Mutation_p.K205Q|CDCA7_uc010zej.1_Missense_Mutation_p.K161Q|CDCA7_uc010zek.1_Missense_Mutation_p.K84Q	p.K126Q	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		3	507	+			126					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.376A>C	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303730	0.81136	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.62639	0.29;0.01;0.23;0.28;0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75693	0.3884	M	0.76574	2.34	0.58432	D	0.999994	P;P;P;D	0.58970	0.862;0.948;0.732;0.984	B;P;B;P	0.58130	0.4;0.539;0.29;0.833	T	0.76567	-0.2912	10	0.45353	T	0.12	-34.127	16.3943	0.83563	1.0:0.0:0.0:0.0	.	84;161;126;205	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	Q	126;126;205;161;84	ENSP00000272789:K126Q;ENSP00000376348:K126Q;ENSP00000306968:K205Q;ENSP00000386656:K161Q;ENSP00000386833:K84Q	ENSP00000306968:K205Q	K	+	1	0	CDCA7	173936428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.575000	0.90766	2.281000	0.76405	0.533000	0.62120	AAA		0.348	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		24	44	0	0	0	0.003954	0	24	44				
HOXD12	3238	broad.mit.edu	37	2	176964621	176964621	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:176964621C>G	ENST00000406506.2	+	1	164	c.92C>G	c.(91-93)cCg>cGg	p.P31R	HOXD12_ENST00000404162.2_Missense_Mutation_p.P31R			P35452	HXD12_HUMAN	homeobox D12	31					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.P31R(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AACCTGAGGCCGAATGGCGGC	0.667																																							uc010zev.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)CCG>CGG		homeobox D12							49.0	53.0	52.0					2																	176964621		1846	4070	5916	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964621C>G		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.92C>G	2.37:g.176964621C>G	ENSP00000385586:p.Pro31Arg					HOXD12_uc010zew.1_Missense_Mutation_p.P31R	p.P31R	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	92	+			31					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.92C>G	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729200	0.69074	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	.	0.174122	0.50627	D	0.000108	T	0.56949	0.2020	M	0.62723	1.935	0.32063	N	0.595383	D;P	0.69078	0.997;0.865	D;P	0.64877	0.93;0.544	T	0.64668	-0.6353	10	0.66056	D	0.02	.	17.3106	0.87208	0.0:1.0:0.0:0.0	.	31;31	B5MCD3;P35452	.;HXD12_HUMAN	R	31	ENSP00000385586:P31R;ENSP00000385132:P31R	ENSP00000385132:P31R	P	+	2	0	HOXD12	176672867	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.456000	0.66665	2.620000	0.88729	0.655000	0.94253	CCG		0.667	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		13	61	0	0	0	0.00245	0	13	61				
TTN	7273	broad.mit.edu	37	2	179391982	179391982	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179391982G>C	ENST00000591111.1	-	313	103034	c.102810C>G	c.(102808-102810)ggC>ggG	p.G34270G	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Silent_p.G26971G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Silent_p.G26846G|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Silent_p.G35911G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.G27038G|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Silent_p.G33343G|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34270	Ig-like 152.				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.G26971G(1)|p.G33343G(1)|p.G33341G(1)|p.G26846G(1)|p.G27038G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGAACTTTGCCTTCATCAA	0.418																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(100027-100029)GGC>GGG		titin isoform N2-A							84.0	71.0	75.0					2																	179391982		1876	4101	5977	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179391982G>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.102810C>G	2.37:g.179391982G>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G27038G|TTN_uc010zfi.1_Silent_p.G26971G|TTN_uc010zfj.1_Silent_p.G26846G|TTN_uc002umq.2_Silent_p.G259G	p.G33343G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		312	100253	-			34270					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.100029C>G																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	26	0	0	0	0.004672	0	3	26				
TTN	7273	broad.mit.edu	37	2	179467007	179467007	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179467007A>G	ENST00000591111.1	-	233	50422		c.e233+1		TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(5)		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)			AAGTACTAGTACCTTGAATAT	0.348																																							uc010zfg.1		NA																	5	Unknown(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.e232+1		titin isoform N2-A							95.0	93.0	93.0					2																	179467007		1865	4087	5952	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179467007A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50197+1T>C	2.37:g.179467007A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.E9501_splice|TTN_uc010zfi.1_Splice_Site_p.E9434_splice|TTN_uc010zfj.1_Splice_Site_p.E9309_splice	p.E15806_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		232	47640	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.47416_splice		.	.	.	.	.	.	.	.	.	.	A	17.44	3.389054	0.61956	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0836	0.81023	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179175252	1.000000	0.71417	0.989000	0.46669	0.813000	0.45954	9.259000	0.95561	2.196000	0.70406	0.528000	0.53228	.		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	5	83	0	0	0	0.000602	0	5	83				
TTN	7273	broad.mit.edu	37	2	179641663	179641663	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179641663C>A	ENST00000591111.1	-	28	5152	c.4928G>T	c.(4927-4929)tGc>tTc	p.C1643F	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C1597F|TTN_ENST00000460472.2_Missense_Mutation_p.C1597F|TTN_ENST00000589042.1_Missense_Mutation_p.C1643F|TTN_ENST00000342175.6_Missense_Mutation_p.C1597F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C1643F|TTN_ENST00000360870.5_Missense_Mutation_p.C1643F			Q8WZ42	TITIN_HUMAN	titin	12494	Ig-like 7.				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.C1597F(3)|p.C1643F(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)			ATTTACTTTGCATCTTGTAGT	0.458																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4927-4929)TGC>TTC		titin isoform N2-A							73.0	72.0	72.0					2																	179641663		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641663C>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.4928G>T	2.37:g.179641663C>A	ENSP00000465570:p.Cys1643Phe					TTN_uc010zfh.1_Missense_Mutation_p.C1597F|TTN_uc010zfi.1_Missense_Mutation_p.C1597F|TTN_uc010zfj.1_Missense_Mutation_p.C1597F|TTN_uc002unb.2_Missense_Mutation_p.C1643F|uc002unc.1_RNA	p.C1643F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5152	-			1643					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.4928G>T		.	.	.	.	.	.	.	.	.	.	C	11.73	1.727109	0.30593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76772	0.4034	L	0.52364	1.645	0.49213	D	0.999764	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.77560	-0.2542	9	0.87932	D	0	.	19.8713	0.96852	0.0:1.0:0.0:0.0	.	1597;1597;1597;1643;1643	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	1643;1597;1597;1597;1597;1643	ENSP00000343764:C1643F;ENSP00000434586:C1597F;ENSP00000340554:C1597F;ENSP00000352154:C1597F;ENSP00000354117:C1643F	ENSP00000340554:C1597F	C	-	2	0	TTN	179349908	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.757000	0.85209	2.702000	0.92279	0.650000	0.86243	TGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	23	1	0	8.10497e-08	0.010504	9.72151e-08	22	23				
KANSL1L	151050	broad.mit.edu	37	2	210968932	210968932	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:210968932C>A	ENST00000281772.9	-	4	1587	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W	KANSL1L_ENST00000418791.1_Missense_Mutation_p.G442W|KANSL1L_ENST00000452086.1_Missense_Mutation_p.G442W|KANSL1L_ENST00000457374.1_Missense_Mutation_p.G442W	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	442						histone acetyltransferase complex (GO:0000123)		p.G442W(1)									TGAGGATTCCCTAGAATGTTT	0.413																																							uc002vds.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1324-1326)GGG>TGG		hypothetical protein LOC151050							104.0	97.0	100.0					2																	210968932		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210968932C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1324G>T	2.37:g.210968932C>A	ENSP00000281772:p.Gly442Trp					C2orf67_uc002vdt.2_Missense_Mutation_p.G442W|C2orf67_uc002vdw.2_Missense_Mutation_p.G442W|C2orf67_uc002vdv.2_Missense_Mutation_p.G442W|C2orf67_uc002vdx.1_Missense_Mutation_p.G442W	p.G442W	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	4	1532	-		Renal(323;0.202)	442					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1324G>T	CCDS33370.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.70|17.70|17.70	3.454349|3.454349|3.454349	0.63290|0.63290|0.63290	.|.|.	.|.|.	ENSG00000144445|ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655|ENST00000438563;ENST00000415553	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	4.38|4.38|4.38	0.52667|0.52667|0.52667	.|.|.	0.425465|.|.	0.24158|.|.	N|.|.	0.041007|.|.	T|T|.	0.50292|0.50292|.	0.1607|0.1607|.	L|L|L	0.47716|0.47716|0.47716	1.5|1.5|1.5	0.26419|0.26419|0.26419	N|N|N	0.976134|0.976134|0.976134	D;D;D;D|.|.	0.69078|.|.	0.995;0.997;0.988;0.988|.|.	P;D;P;P|.|.	0.68483|.|.	0.823;0.958;0.777;0.777|.|.	T|T|.	0.42032|0.42032|.	-0.9475|-0.9475|.	9|5|.	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	14.247|14.247|14.247	0.65995|0.65995|0.65995	0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726	.|.|.	442;442;442;442|.|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.|.	.;.;.;CB067_HUMAN|.|.	W|M|Y	442|136|115;160	.|.|.	ENSP00000281772:G442W|.|.	G|R|X	-|-|-	1|2|3	0|0|2	C2orf67|C2orf67|C2orf67	210677177|210677177|210677177	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.952000|0.952000|0.952000	0.39060|0.39060|0.39060	0.945000|0.945000|0.945000	0.59286|0.59286|0.59286	2.295000|2.295000|2.295000	0.43576|0.43576|0.43576	1.342000|1.342000|1.342000	0.45619|0.45619|0.45619	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GGG|AGG|TAG		0.413	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		15	28	1	0	3.27435e-08	0.00245	3.94915e-08	15	28				
CPS1	1373	broad.mit.edu	37	2	211542680	211542680	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:211542680A>G	ENST00000233072.5	+	38	4670	c.4474A>G	c.(4474-4476)Agg>Ggg	p.R1492G	CPS1_ENST00000451903.2_Missense_Mutation_p.R1041G|CPS1_ENST00000430249.2_Missense_Mutation_p.R1498G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1492					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R1498G(1)|p.R1492G(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTCCACTACAGGCAGTACAG	0.443																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(4474-4476)AGG>GGG		carbamoyl-phosphate synthetase 1 isoform b							167.0	174.0	172.0					2																	211542680		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211542680A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4474A>G	2.37:g.211542680A>G	ENSP00000233072:p.Arg1492Gly					CPS1_uc010fur.2_Missense_Mutation_p.R1498G|CPS1_uc010fus.2_Missense_Mutation_p.R1041G	p.R1492G	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	38	4606	+			1492					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4474A>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.376029	0.61735	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.86562	-2.14;-2.14;-2.14	5.68	1.79	0.24919	Methylglyoxal synthase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	N	0.08118	0	0.45035	D	0.998056	P;P	0.44734	0.842;0.842	B;B	0.36922	0.236;0.236	T	0.71768	-0.4493	10	0.56958	D	0.05	-11.0084	13.3092	0.60370	0.6228:0.3771:0.0:0.0	.	1502;1492	Q59HF8;P31327	.;CPSM_HUMAN	G	1498;1500;1492;1041	ENSP00000402608:R1498G;ENSP00000233072:R1492G;ENSP00000406136:R1041G	ENSP00000233072:R1492G	R	+	1	2	CPS1	211250925	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.643000	0.46604	0.059000	0.16252	-0.313000	0.08912	AGG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			24	207	0	0	0	0.00333	0	24	207				
CXCR2P1	3580	broad.mit.edu	37	2	218925443	218925443	+	RNA	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:218925443G>C	ENST00000439871.1	-	0	937					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		GCGTATGCAGGGTGAATCTGT	0.532																																							uc002vgx.2		NA																	0					0						c.(277-279)CCC>CGC		Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron.																																						3580							g.chr2:218925443G>C	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925443G>C						RUFY4_uc002vgw.2_Intron	p.P93R	NR_002712						1	571	-									Missense_Mutation	SNP	ENST00000439871.1	37	c.278C>G																																																																																					0.532	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		17	64	0	0	0	0.004007	0	17	64				
SPEG	10290	broad.mit.edu	37	2	220355136	220355136	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:220355136G>C	ENST00000312358.7	+	37	9059	c.8927G>C	c.(8926-8928)cGc>cCc	p.R2976P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2976	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R2976P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACAGGGGCCGCTTTGGTGTT	0.667																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8926-8928)CGC>CCC		SPEG complex locus							33.0	39.0	37.0					2																	220355136		2090	4207	6297	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355136G>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8927G>C	2.37:g.220355136G>C	ENSP00000311684:p.Arg2976Pro						p.R2976P	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	8927	+		Renal(207;0.0183)	2976			ATP (By similarity).|Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8927G>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786720	0.70337	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.39406	1.08	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.287901	0.18935	N	0.127096	T	0.62036	0.2395	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62937	-0.6748	10	0.52906	T	0.07	.	17.3264	0.87249	0.0:0.0:1.0:0.0	.	2976	Q15772	SPEG_HUMAN	P	2976	ENSP00000311684:R2976P	ENSP00000265327:R2976P	R	+	2	0	SPEG	220063380	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.541000	0.98083	2.417000	0.82017	0.591000	0.81541	CGC		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		14	26	0	0	0	0.004007	0	14	26				
OBSL1	23363	broad.mit.edu	37	2	220424202	220424202	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:220424202T>A	ENST00000404537.1	-	9	3027	c.2971A>T	c.(2971-2973)Ata>Tta	p.I991L	OBSL1_ENST00000265317.5_5'Flank|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.I991L|OBSL1_ENST00000603926.1_Missense_Mutation_p.I991L|OBSL1_ENST00000373876.1_Missense_Mutation_p.I991L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	991	Ig-like 8.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.I991L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGAGGGTATATGATCCGCACT	0.582											OREG0003986	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc010fwk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2971-2973)ATA>TTA		obscurin-like 1							102.0	108.0	106.0					2																	220424202		2139	4241	6380	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220424202T>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2971A>T	2.37:g.220424202T>A	ENSP00000385636:p.Ile991Leu		OREG0003986	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_uc002vmh.1_5'UTR|OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.I466L	p.I991L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	9	3028	-		Renal(207;0.0376)	991			Ig-like 8.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.2971A>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	T	9.417	1.082122	0.20309	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876	T;T;T	0.04275	3.66;3.66;3.66	4.34	-3.74	0.04385	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01523	0.0049	N	0.01729	-0.75	0.28100	N	0.931455	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48525	-0.9028	9	0.18276	T	0.48	.	4.7608	0.13108	0.1314:0.1298:0.5825:0.1563	.	992;991	A4KVA4;O75147	.;OBSL1_HUMAN	L	991	ENSP00000265318:I991L;ENSP00000385636:I991L;ENSP00000362983:I991L	ENSP00000265318:I991L	I	-	1	0	OBSL1	220132446	0.000000	0.05858	0.899000	0.35326	0.191000	0.23601	-1.788000	0.01763	-0.409000	0.07553	-0.680000	0.03767	ATA		0.582	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			42	54	0	0	0	0.009718	0	42	54				
TRIP12	9320	broad.mit.edu	37	2	230667127	230667127	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:230667127G>A	ENST00000283943.5	-	20	3000	c.2822C>T	c.(2821-2823)aCa>aTa	p.T941I	TRIP12_ENST00000389044.4_Missense_Mutation_p.T989I|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.T671I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	941					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.T941I(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGTGGACTTGTCAACAAAGA	0.453																																							uc002vpw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(2821-2823)ACA>ATA		thyroid hormone receptor interactor 12							157.0	140.0	146.0					2																	230667127		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230667127G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2822C>T	2.37:g.230667127G>A	ENSP00000283943:p.Thr941Ile					TRIP12_uc002vpx.1_Missense_Mutation_p.T989I|TRIP12_uc002vpy.1_Missense_Mutation_p.T671I|TRIP12_uc010zlz.1_Intron	p.T941I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	20	2931	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	941					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.2822C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178881	0.78564	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48522	0.81;1.15;0.81	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.14661	0.345	0.80722	D	1	B;B;B	0.27498	0.037;0.18;0.18	B;B;B	0.24269	0.011;0.052;0.052	T	0.10428	-1.0630	10	0.37606	T	0.19	.	19.4152	0.94694	0.0:0.0:1.0:0.0	.	671;989;941	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	941;671;989	ENSP00000283943:T941I;ENSP00000373697:T671I;ENSP00000373696:T989I	ENSP00000283943:T941I	T	-	2	0	TRIP12	230375371	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.434000	0.97515	2.587000	0.87381	0.460000	0.39030	ACA		0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		37	56	0	0	0	0.005524	0	37	56				
SP110	3431	broad.mit.edu	37	2	231067407	231067407	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:231067407G>C	ENST00000358662.4	-	9	1014	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SP110_ENST00000486146.2_5'Flank|SP110_ENST00000392048.3_Silent_p.L310L|SP110_ENST00000540870.1_Silent_p.L318L|SP110_ENST00000258381.6_Silent_p.L312L|SP110_ENST00000258382.5_Silent_p.L312L|SP110_ENST00000338556.3_Intron	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	312					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L312L(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCACCCTTTTGAGCTTCTTTT	0.458																																							uc002vqh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(934-936)CTC>CTG		SP110 nuclear body protein isoform a							203.0	190.0	194.0					2																	231067407		2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067407G>C	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.936C>G	2.37:g.231067407G>C						SP110_uc002vqg.3_Silent_p.L312L|SP110_uc002vqi.3_Silent_p.L312L|SP110_uc010fxk.2_Silent_p.L310L|SP110_uc010fxj.2_Intron	p.L312L	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1176	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	312					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.936C>G	CCDS2474.1																																																																																				0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		7	141	0	0	0	0.006214	0	7	141				
NGEF	25791	broad.mit.edu	37	2	233745956	233745956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:233745956G>T	ENST00000264051.3	-	14	2120	c.1842C>A	c.(1840-1842)tgC>tgA	p.C614*	NGEF_ENST00000539537.1_Nonsense_Mutation_p.C337*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.C522*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	614	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C614*(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGACCTGGGGGCAGTCTGAGG	0.627																																							uc002vts.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1840-1842)TGC>TGA		neuronal guanine nucleotide exchange factor							74.0	71.0	72.0					2																	233745956		2203	4300	6503	SO:0001587	stop_gained	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233745956G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1842C>A	2.37:g.233745956G>T	ENSP00000264051:p.Cys614*					NGEF_uc010zmm.1_Nonsense_Mutation_p.C337*|NGEF_uc010fyg.1_Nonsense_Mutation_p.C522*	p.C614*	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	14	2090	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	614			SH3.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Nonsense_Mutation	SNP	ENST00000264051.3	37	c.1842C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735560	0.96865	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	.	.	.	4.65	-1.71	0.08133	.	0.057216	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7372	10.8855	0.46964	0.5346:0.0:0.4654:0.0	.	.	.	.	X	614;522;504;337	.	ENSP00000264051:C614X	C	-	3	2	NGEF	233454200	0.991000	0.36638	0.995000	0.50966	0.923000	0.55619	0.215000	0.17562	-0.177000	0.10690	-0.448000	0.05591	TGC		0.627	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		17	50	1	0	6.94344e-10	0.006122	8.7749e-10	17	50				
STK35	140901	broad.mit.edu	37	20	2097734	2097734	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:2097734G>T	ENST00000381482.3	+	3	1586	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	STK35_ENST00000246032.3_Missense_Mutation_p.A306S|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A439S(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GGACATCTTTGCCCTGGGCAT	0.498																																							uc010gak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1315-1317)GCC>TCC		serine/threonine kinase 35							67.0	64.0	65.0					20																	2097734		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097734G>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1315G>T	20.37:g.2097734G>T	ENSP00000370891:p.Ala439Ser					STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.A306S	p.A439S	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			3	1315	+			439			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1315G>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255087	0.22965	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.88818	-2.43;-2.43	5.5	5.5	0.81552	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	0.75708	0.3886	N	0.01631	-0.79	0.80722	D	1	B	0.27140	0.169	B	0.38194	0.267	T	0.72814	-0.4179	10	0.02654	T	1	-12.3703	16.94	0.86215	0.0:0.0:1.0:0.0	.	439	Q8TDR2	STK35_HUMAN	S	439;306	ENSP00000370891:A439S;ENSP00000246032:A306S	ENSP00000246032:A306S	A	+	1	0	STK35	2045734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GCC		0.498	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		41	56	1	0	1.47197e-15	0.007835	2.04063e-15	41	56				
CPXM1	56265	broad.mit.edu	37	20	2776685	2776685	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:2776685G>T	ENST00000380605.2	-	10	1429	c.1365C>A	c.(1363-1365)caC>caA	p.H455Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	455					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.H455Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGGGACGATGTGGGGCACCT	0.577																																							uc002wgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1363-1365)CAC>CAA		carboxypeptidase X, member 1 precursor							151.0	139.0	143.0					20																	2776685		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776685G>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1365C>A	20.37:g.2776685G>T	ENSP00000369979:p.His455Gln					CPXM1_uc010gas.2_Missense_Mutation_p.H455Q	p.H455Q	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			10	1429	-			455					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1365C>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	7.317	0.616208	0.14129	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.95238	-3.65	5.3	0.902	0.19290	Peptidase M14, carboxypeptidase A (2);	0.466050	0.25692	N	0.028936	D	0.91375	0.7279	L	0.59436	1.845	0.09310	N	1	P;B	0.42203	0.773;0.241	B;B	0.41412	0.356;0.105	D	0.84256	0.0480	10	0.44086	T	0.13	-9.2756	8.5874	0.33666	0.3597:0.0:0.6403:0.0	.	455;455	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Q	455;151	ENSP00000369979:H455Q	ENSP00000369979:H455Q	H	-	3	2	CPXM1	2724685	0.001000	0.12720	0.598000	0.28837	0.604000	0.37047	-0.113000	0.10774	0.367000	0.24454	0.563000	0.77884	CAC		0.577	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		25	75	1	0	7.92952e-12	0.003954	1.03666e-11	25	75				
RASSF2	9770	broad.mit.edu	37	20	4776565	4776565	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:4776565G>T	ENST00000379400.3	-	5	378	c.183C>A	c.(181-183)ggC>ggA	p.G61G	RASSF2_ENST00000379376.2_Silent_p.G61G|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	61					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.G61G(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCCGGCGCAGGCCCCAGGAGA	0.592																																					Melanoma(158;1891 3343 50738)	Melanoma(158;1891 3343 50738)	uc002wld.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(181-183)GGC>GGA		Ras association domain family 2							79.0	77.0	78.0					20																	4776565		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776565G>T	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.183C>A	20.37:g.4776565G>T						RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.G61G	p.G61G	NM_170774	NP_739580	P50749	RASF2_HUMAN			4	237	-			61					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.183C>A	CCDS13083.1																																																																																				0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		19	60	1	0	1.56452e-12	0.007413	2.07335e-12	19	60				
PLCB4	5332	broad.mit.edu	37	20	9360751	9360751	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:9360751C>T	ENST00000378493.1	+	10	810	c.795C>T	c.(793-795)gcC>gcT	p.A265A	PLCB4_ENST00000278655.4_Silent_p.A265A|PLCB4_ENST00000334005.3_Silent_p.A265A|PLCB4_ENST00000414679.2_Silent_p.A265A|PLCB4_ENST00000378501.2_Silent_p.A265A|PLCB4_ENST00000378473.3_Silent_p.A265A|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	265					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.A265A(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTATGATGCCAAAAGGGCAA	0.308																																							uc002wnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(793-795)GCC>GCT		phospholipase C beta 4 isoform b							65.0	62.0	63.0					20																	9360751		2203	4296	6499	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360751C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.795C>T	20.37:g.9360751C>T						PLCB4_uc010gbw.1_Silent_p.A265A|PLCB4_uc010gbx.2_Silent_p.A265A|PLCB4_uc002wne.2_Silent_p.A265A|PLCB4_uc002wnh.2_Silent_p.A112A	p.A265A	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			12	931	+			265					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.795C>T	CCDS13105.1																																																																																				0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			15	36	0	0	0	0.00499	0	15	36				
RALGAPA2	57186	broad.mit.edu	37	20	20610186	20610186	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:20610186C>A	ENST00000202677.7	-	10	1061	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	352					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.G352C(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGCCCACCACCATCCAGC	0.552																																							uc002wrz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1054-1056)GGT>TGT		akt substrate AS250							113.0	116.0	115.0					20																	20610186		2159	4260	6419	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20610186C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1054G>T	20.37:g.20610186C>A	ENSP00000202677:p.Gly352Cys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.G56C|RALGAPA2_uc010zsg.1_5'UTR	p.G352C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			10	1197	-			352					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1054G>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.821305|1.821305	0.32237|0.32237	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000432524	T|.	0.77229|.	-1.08|.	5.1|5.1	-1.04|-1.04	0.10068|0.10068	.|.	1.007950|.	0.07956|.	N|.	0.981699|.	T|T	0.29389|0.29389	0.0732|0.0732	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29212|0.29212	-1.0019|-1.0019	10|5	0.49607|.	T|.	0.09|.	.|.	5.1195|5.1195	0.14852|0.14852	0.1407:0.3251:0.0:0.5343|0.1407:0.3251:0.0:0.5343	.|.	352|.	Q2PPJ7|.	RGPA2_HUMAN|.	C|L	352|203	ENSP00000202677:G352C|.	ENSP00000202677:G352C|.	G|W	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20558186|20558186	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.078000|0.078000	0.17371|0.17371	0.226000|0.226000	0.17776|0.17776	-0.051000|-0.051000	0.13334|0.13334	0.555000|0.555000	0.69702|0.69702	GGT|TGG		0.552	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		36	61	1	0	1.06647e-15	0.003755	1.48557e-15	36	61				
NINL	22981	broad.mit.edu	37	20	25507047	25507047	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:25507047G>A	ENST00000278886.6	-	2	250	c.177C>T	c.(175-177)gcC>gcT	p.A59A	NINL_ENST00000422516.1_Silent_p.A59A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	59	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.A59A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CACTCACCCTGGCGAAATGGT	0.512																																							uc002wux.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(175-177)GCC>GCT		ninein-like							110.0	122.0	118.0					20																	25507047		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507047G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.177C>T	20.37:g.25507047G>A						NINL_uc010gdn.1_Silent_p.A59A|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.A75A	p.A59A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			2	251	-			59			EF-hand 2.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.177C>T	CCDS33452.1																																																																																				0.512	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		70	144	0	0	0	0.00361	0	70	144				
ZNF337	26152	broad.mit.edu	37	20	25657370	25657370	+	Missense_Mutation	SNP	C	C	G	rs140373318	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:25657370C>G	ENST00000376436.1	-	4	1093	c.554G>C	c.(553-555)cGt>cCt	p.R185P	RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R185P|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R153P|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R185P(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTGCCCACGCTCTGCACA	0.428																																							uc002wva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CGT>CCT		zinc finger protein 337							176.0	162.0	166.0					20																	25657370		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25657370C>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.554G>C	20.37:g.25657370C>G	ENSP00000365619:p.Arg185Pro					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R153P|ZNF337_uc002wvb.2_Missense_Mutation_p.R185P|ZNF337_uc002wvc.2_Missense_Mutation_p.R185P	p.R185P	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1076	-			185			C2H2-type 1; degenerate.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.554G>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.991090	0.35131	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.41758	0.99;0.99;0.99	1.71	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.20861	0.0502	N	0.19112	0.55	0.24313	N	0.995076	P;P	0.35944	0.529;0.529	B;B	0.23852	0.049;0.049	T	0.07829	-1.0752	9	0.87932	D	0	.	7.4052	0.26987	0.0:0.7056:0.0:0.2944	.	153;185	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	P	185;185;185;153	ENSP00000365619:R185P;ENSP00000252979:R185P;ENSP00000442181:R153P	ENSP00000252979:R185P	R	-	2	0	ZNF337	25605370	0.420000	0.25457	0.000000	0.03702	0.500000	0.33767	2.194000	0.42668	-0.641000	0.05487	0.306000	0.20318	CGT		0.428	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			42	167	0	0	0	0.00874	0	42	167				
BPIFB4	149954	broad.mit.edu	37	20	31692679	31692679	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:31692679G>T	ENST00000375483.3	+	14	1744	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	582						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A543S(1)									CGCAATGAACGGTGAGAGCGG	0.567																																							uc010zue.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1744-1746)GCT>TCT		antimicrobial peptide RY2G5 precursor							127.0	103.0	111.0					20																	31692679		2203	4300	6503	SO:0001630	splice_region_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31692679G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1744+1G>T	20.37:g.31692679G>T							p.A582S	NM_182519	NP_872325	P59827	LPLC4_HUMAN			14	1759	+			582					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1744G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000186191	ENST00000375483	T	0.06528	3.29	4.51	3.56	0.40772	.	0.083130	0.51477	D	0.000096	T	0.12860	0.0312	M	0.62723	1.935	0.31347	N	0.682966	D	0.58970	0.984	P	0.56127	0.792	T	0.04767	-1.0928	10	0.19590	T	0.45	-14.1203	8.385	0.32494	0.1074:0.0:0.8926:0.0	.	582	P59827	BPIB4_HUMAN	S	582	ENSP00000364632:A582S	ENSP00000364632:A582S	A	+	1	0	BPIFB4	31156340	0.991000	0.36638	0.888000	0.34837	0.116000	0.19942	2.235000	0.43044	1.256000	0.44068	0.561000	0.74099	GCT		0.567	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	Missense_Mutation	28	45	1	0	3.73988e-18	0.00632	5.33744e-18	28	45				
ERGIC3	51614	broad.mit.edu	37	20	34135189	34135189	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:34135189T>C	ENST00000348547.2	+	5	471	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	ERGIC3_ENST00000279052.6_Missense_Mutation_p.F132L|ERGIC3_ENST00000447986.1_Missense_Mutation_p.F132L|ERGIC3_ENST00000357394.4_Missense_Mutation_p.F132L	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	132					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F132L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGTGACGGTGTTTGACCCTGA	0.592																																							uc002xct.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(394-396)TTT>CTT		serologically defined breast cancer antigen 84							128.0	89.0	102.0					20																	34135189		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34135189T>C	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.394T>C	20.37:g.34135189T>C	ENSP00000341358:p.Phe132Leu					ERGIC3_uc002xcr.1_Missense_Mutation_p.F132L|ERGIC3_uc010zvg.1_Missense_Mutation_p.F132L|ERGIC3_uc002xcs.2_Missense_Mutation_p.F132L|ERGIC3_uc002xcu.2_Missense_Mutation_p.F132L|ERGIC3_uc002xcv.2_Missense_Mutation_p.F95L	p.F132L	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		5	463	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		132			Lumenal (Potential).		Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.394T>C	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.103216|2.103216	0.37145|0.37145	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052|ENST00000413587	T;T;T;T|T	0.39997|0.39787	1.05;1.05;1.05;1.05|1.06	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.0;0.001|.	B;B;B;B;B|.	0.06405|.	0.002;0.001;0.001;0.002;0.002|.	T|T	0.05115|0.05115	-1.0905|-1.0905	10|7	0.18710|0.08179	T|T	0.47|0.78	-13.4455|-13.4455	12.6412|12.6412	0.56711|0.56711	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	132;132;132;132;132|.	B4DV36;E9PFA8;Q9Y282;Q9Y282-3;Q9Y282-2|.	.;.;ERGI3_HUMAN;.;.|.	L|A	132|133	ENSP00000341358:F132L;ENSP00000349970:F132L;ENSP00000392341:F132L;ENSP00000279052:F132L|ENSP00000402480:V133A	ENSP00000279052:F132L|ENSP00000402480:V133A	F|V	+|+	1|2	0|0	ERGIC3|ERGIC3	33598603|33598603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.636000|5.636000	0.67848|0.67848	1.976000|1.976000	0.57569|0.57569	0.454000|0.454000	0.30748|0.30748	TTT|GTT		0.592	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		17	56	0	0	0	0.006122	0	17	56				
DLGAP4	22839	broad.mit.edu	37	20	35060244	35060244	+	Missense_Mutation	SNP	C	C	T	rs376864546		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:35060244C>T	ENST00000373907.2	+	2	323	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42C|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R42C|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42C			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.R42C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGCCTTCGCCCGCGAGGCCCG	0.697																																							uc002xff.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(124-126)CGC>TGC		disks large-associated protein 4 isoform a		C	CYS/ARG	0,4406		0,0,2203	36.0	39.0	38.0		124	3.6	0.9	20		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP4	NM_014902.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	42/990	35060244	1,13005	2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060244C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.124C>T	20.37:g.35060244C>T	ENSP00000363014:p.Arg42Cys					DLGAP4_uc010zvp.1_Missense_Mutation_p.R42C	p.R42C	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	559	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	42					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.635991	0.47049	0.0	1.16E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.67	3.6	0.41247	.	0.507297	0.22560	N	0.058475	T	0.48277	0.1491	L	0.44542	1.39	0.39990	D	0.975031	D	0.76494	0.999	P	0.56700	0.804	T	0.46527	-0.9185	10	0.38643	T	0.18	.	13.238	0.59982	0.3754:0.6246:0.0:0.0	.	42	Q9Y2H0-1	.	C	42	ENSP00000363023:R42C;ENSP00000384954:R42C;ENSP00000363014:R42C;ENSP00000341633:R42C	ENSP00000341633:R42C	R	+	1	0	DLGAP4	34493658	0.991000	0.36638	0.883000	0.34634	0.629000	0.37895	1.902000	0.39848	1.374000	0.46228	0.561000	0.74099	CGC		0.697	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		20	35	0	0	0	0.010504	0	20	35				
DLGAP4	22839	broad.mit.edu	37	20	35060397	35060397	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:35060397C>A	ENST00000373907.2	+	2	476	c.277C>A	c.(277-279)Caa>Aaa	p.Q93K	DLGAP4_ENST00000401952.2_Missense_Mutation_p.Q93K|DLGAP4_ENST00000373913.3_Missense_Mutation_p.Q93K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.Q93K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	93					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.Q93K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCCATGCCCAAGCCACCAA	0.627																																							uc002xff.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(277-279)CAA>AAA		disks large-associated protein 4 isoform a							73.0	76.0	75.0					20																	35060397		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060397C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.277C>A	20.37:g.35060397C>A	ENSP00000363014:p.Gln93Lys					DLGAP4_uc010zvp.1_Missense_Mutation_p.Q93K	p.Q93K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	712	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	93					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.277C>A		.	.	.	.	.	.	.	.	.	.	C	10.73	1.433389	0.25813	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.53	5.53	0.82687	.	0.298153	0.37857	N	0.001917	T	0.33206	0.0855	L	0.59436	1.845	0.35803	D	0.82327	P	0.50943	0.94	P	0.50659	0.647	T	0.20706	-1.0267	10	0.23302	T	0.38	.	18.4578	0.90727	0.0:1.0:0.0:0.0	.	93	Q9Y2H0-1	.	K	93	ENSP00000363023:Q93K;ENSP00000384954:Q93K;ENSP00000363014:Q93K;ENSP00000341633:Q93K	ENSP00000341633:Q93K	Q	+	1	0	DLGAP4	34493811	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.706000	0.47135	2.590000	0.87494	0.561000	0.74099	CAA		0.627	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		12	79	1	0	0.00010058	0.001368	0.00011102	12	79				
TGM2	7052	broad.mit.edu	37	20	36779382	36779382	+	Missense_Mutation	SNP	A	A	G	rs35700485		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:36779382A>G	ENST00000361475.2	-	4	684	c.511T>C	c.(511-513)Tcg>Ccg	p.S171P	TGM2_ENST00000536724.1_Missense_Mutation_p.S111P|TGM2_ENST00000536701.1_Missense_Mutation_p.S90P	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	171					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S171P(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AACTTGGCCGAGCCCTGGTAG	0.582																																							uc002xhr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(511-513)TCG>CCG		transglutaminase 2 isoform a	L-Glutamine(DB00130)						162.0	147.0	152.0					20																	36779382		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36779382A>G	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.511T>C	20.37:g.36779382A>G	ENSP00000355330:p.Ser171Pro					TGM2_uc010zvx.1_Missense_Mutation_p.S90P|TGM2_uc010zvy.1_Missense_Mutation_p.S111P|TGM2_uc002xhs.1_Missense_Mutation_p.S147P|TGM2_uc002xht.2_Missense_Mutation_p.S171P|TGM2_uc002xhu.3_Missense_Mutation_p.S171P	p.S171P	NM_004613	NP_004604	P21980	TGM2_HUMAN			4	611	-		Myeloproliferative disorder(115;0.00878)	171					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.511T>C	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	a	15.30	2.793981	0.50102	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.36	1.61	0.23674	.	0.382698	0.27155	N	0.020678	D	0.93406	0.7897	M	0.71036	2.16	0.25459	N	0.987935	D;D;D;D;D;D	0.76494	0.998;0.994;0.999;0.998;0.997;0.994	P;P;P;P;P;P	0.62885	0.908;0.868;0.876;0.908;0.812;0.868	D	0.85682	0.1301	10	0.54805	T	0.06	-14.1538	7.2252	0.26012	0.5268:0.1039:0.0:0.3693	.	111;90;171;171;111;171	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	P	171;90;111;171	ENSP00000355330:S171P;ENSP00000444701:S90P;ENSP00000437479:S111P;ENSP00000362502:S171P	ENSP00000355330:S171P	S	-	1	0	TGM2	36212796	0.032000	0.19561	0.937000	0.37676	0.566000	0.35808	0.502000	0.22594	0.848000	0.35191	0.529000	0.55759	TCG		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		14	148	0	0	0	0.00245	0	14	148				
PTPRT	11122	broad.mit.edu	37	20	40714370	40714370	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:40714370G>A	ENST00000373187.1	-	28	3969	c.3970C>T	c.(3970-3972)Cgg>Tgg	p.R1324W	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1323W|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1334W|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1343W|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1333W|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1327W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1314W			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1324	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.		R -> L (in a lung cancer; reduced phosphatase activity). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1346W(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTACTTACCCGGGCCATGTTA	0.592																																							uc002xkg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3970-3972)CGG>TGG		protein tyrosine phosphatase, receptor type, T							63.0	68.0	66.0					20																	40714370		1985	4151	6136	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40714370G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3970C>T	20.37:g.40714370G>A	ENSP00000362283:p.Arg1324Trp					PTPRT_uc010ggj.2_Missense_Mutation_p.R1343W|PTPRT_uc010ggi.2_Missense_Mutation_p.R527W	p.R1324W	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4154	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1324		R -> L (in a lung cancer; reduced phosphatase activity).	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3970C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321497	0.81580	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.31	4.3	0.51218	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.119606	0.53938	D	0.000056	T	0.41903	0.1179	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.44112	-0.9349	10	0.87932	D	0	.	11.2274	0.48892	0.0:0.0:0.649:0.351	.	1346;1324	O14522-1;O14522	.;PTPRT_HUMAN	W	1323;1324;1327;1333;1346;1334;1314	ENSP00000362286:R1323W;ENSP00000362283:R1324W;ENSP00000362289:R1327W;ENSP00000348408:R1333W;ENSP00000362294:R1346W;ENSP00000362280:R1334W;ENSP00000362297:R1314W	ENSP00000348408:R1333W	R	-	1	2	PTPRT	40147784	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.536000	0.45693	2.765000	0.95021	0.655000	0.94253	CGG		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			19	66	0	0	0	0.008871	0	19	66				
L3MBTL1	26013	broad.mit.edu	37	20	42143696	42143696	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:42143696G>C	ENST00000427442.2	+	5	643	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E162Q|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.E94Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E94Q|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E94Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	94					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E162Q(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGACCCCCCAGAGGATGATAG	0.627																																							uc010zwh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(484-486)GAG>CAG		l(3)mbt-like isoform I							57.0	54.0	55.0					20																	42143696		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42143696G>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.484G>C	20.37:g.42143696G>C	ENSP00000402107:p.Glu162Gln					L3MBTL_uc010ggk.1_Missense_Mutation_p.E94Q|L3MBTL_uc002xkl.2_Missense_Mutation_p.E94Q|L3MBTL_uc002xkm.2_Missense_Mutation_p.E94Q|L3MBTL_uc010ggl.2_Missense_Mutation_p.E94Q	p.E162Q	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		5	530	+		Myeloproliferative disorder(115;0.00452)	94					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.484G>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	9.264	1.043936	0.19748	.	.	ENSG00000185513	ENST00000434666;ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.92	2.88	0.33553	.	0.694331	0.12936	N	0.426979	T	0.79173	0.4401	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.41265	0.744;0.099;0.16;0.16	B;B;B;B	0.38327	0.271;0.055;0.118;0.118	T	0.64769	-0.6329	10	0.27785	T	0.31	.	7.2743	0.26275	0.2199:0.0:0.7801:0.0	.	162;94;94;94	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	Q	54;162;162;94;94;94	ENSP00000415971:E54Q;ENSP00000402107:E162Q;ENSP00000398516:E162Q;ENSP00000362227:E94Q;ENSP00000403316:E94Q;ENSP00000362226:E94Q	ENSP00000362226:E94Q	E	+	1	0	L3MBTL1	41577110	0.995000	0.38212	0.327000	0.25402	0.311000	0.27955	2.415000	0.44635	0.537000	0.28751	-0.345000	0.07892	GAG		0.627	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		8	46	0	0	0	0.00308	0	8	46				
NCOA3	8202	broad.mit.edu	37	20	46275899	46275899	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:46275899G>T	ENST00000371998.3	+	18	3526	c.3335G>T	c.(3334-3336)gGa>gTa	p.G1112V	NCOA3_ENST00000372004.3_Missense_Mutation_p.G1112V|NCOA3_ENST00000371997.3_Missense_Mutation_p.G1107V|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1042V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1112	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G1112V(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGATTATATGGACAGACATAC	0.453																																							uc002xtk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(3334-3336)GGA>GTA		nuclear receptor coactivator 3 isoform a							130.0	109.0	116.0					20																	46275899		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46275899G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3335G>T	20.37:g.46275899G>T	ENSP00000361066:p.Gly1112Val					NCOA3_uc010ght.1_Missense_Mutation_p.G1107V|NCOA3_uc002xtl.2_Missense_Mutation_p.G1112V|NCOA3_uc002xtm.2_Missense_Mutation_p.G1112V|NCOA3_uc002xtn.2_Missense_Mutation_p.G1112V|NCOA3_uc010zyc.1_Missense_Mutation_p.G907V	p.G1112V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			18	3540	+			1112			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.3335G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613417	0.66672	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.72118	2.19	0.80722	D	1	P;D;P;P;P;P	0.69078	0.913;0.997;0.913;0.913;0.948;0.913	P;D;P;P;P;P	0.67382	0.536;0.951;0.638;0.638;0.802;0.638	T	0.73480	-0.3969	10	0.59425	D	0.04	-15.7721	19.6312	0.95704	0.0:0.0:1.0:0.0	.	1112;1107;1116;1112;1112;1112	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	1112;1042;1112;1112;1107	ENSP00000342123:G1042V;ENSP00000361073:G1112V;ENSP00000361066:G1112V;ENSP00000361065:G1107V	ENSP00000345671:G1112V	G	+	2	0	NCOA3	45709306	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	7.399000	0.79935	2.654000	0.90174	0.591000	0.81541	GGA		0.453	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		28	47	1	0	1.32143e-28	0.00632	2.02868e-28	28	47				
DDX27	55661	broad.mit.edu	37	20	47838011	47838011	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:47838011G>A	ENST00000371764.4	+	2	218	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	70	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R70Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGGGCAGACGACAAAAAGCT	0.527																																							uc002xuh.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(208-210)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							79.0	69.0	73.0					20																	47838011		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47838011G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.209G>A	20.37:g.47838011G>A	ENSP00000360828:p.Arg70Gln						p.R70Q	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	270	+			70			Asp/Glu/Lys-rich.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.209G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659675	0.29515	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01397	4.94	5.16	-0.662	0.11413	.	0.328837	0.35207	N	0.003378	T	0.00906	0.0030	N	0.11427	0.14	0.23515	N	0.997513	B	0.24426	0.103	B	0.11329	0.006	T	0.48570	-0.9024	10	0.37606	T	0.19	-12.3884	10.6933	0.45884	0.8876:0.0:0.1124:0.0	.	70	Q96GQ7	DDX27_HUMAN	Q	70	ENSP00000360828:R70Q	ENSP00000360828:R70Q	R	+	2	0	DDX27	47271418	1.000000	0.71417	0.992000	0.48379	0.356000	0.29392	1.874000	0.39568	-0.208000	0.10171	-0.291000	0.09656	CGA		0.527	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			10	38	0	0	0	0.008291	0	10	38				
TSHZ2	128553	broad.mit.edu	37	20	51872088	51872088	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:51872088C>A	ENST00000371497.5	+	2	2978	c.2091C>A	c.(2089-2091)gcC>gcA	p.A697A	TSHZ2_ENST00000329613.6_Silent_p.A694A|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.A694A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	697					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A697A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACTCAGCGCCCTGCAGTCCG	0.612																																							uc002xwo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2089-2091)GCC>GCA		teashirt zinc finger homeobox 2							53.0	49.0	51.0					20																	51872088		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872088C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2091C>A	20.37:g.51872088C>A							p.A697A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3047	+			697					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2091C>A	CCDS33490.1																																																																																				0.612	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		5	73	1	0	0.00198382	0.001984	0.00212517	5	73				
C20orf85	128602	broad.mit.edu	37	20	56728613	56728613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:56728613A>T	ENST00000371168.3	+	2	143	c.82A>T	c.(82-84)Aag>Tag	p.K28*		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	28								p.K28*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			ATACCGTCTGAAGGCTGAATC	0.478																																							uc002xyv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(82-84)AAG>TAG		hypothetical protein LOC128602							97.0	101.0	100.0					20																	56728613		2203	4300	6503	SO:0001587	stop_gained	128602							g.chr20:56728613A>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.82A>T	20.37:g.56728613A>T	ENSP00000360210:p.Lys28*						p.K28*	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	120	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		28						Nonsense_Mutation	SNP	ENST00000371168.3	37	c.82A>T	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	A	35	5.497647	0.96355	.	.	ENSG00000124237	ENST00000371168	.	.	.	5.82	0.59	0.17458	.	0.232096	0.37261	N	0.002172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.309	6.1256	0.20177	0.4211:0.4576:0.1213:0.0	.	.	.	.	X	28	.	ENSP00000360210:K28X	K	+	1	0	C20orf85	56162019	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	0.830000	0.27462	0.417000	0.25871	0.533000	0.62120	AAG		0.478	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		5	163	0	0	0	0.001168	0	5	163				
GNAS	2778	broad.mit.edu	37	20	57415891	57415891	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57415891C>G	ENST00000313949.7	+	1	1119	c.730C>G	c.(730-732)Cgt>Ggt	p.R244G	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R244G|GNAS_ENST00000371098.2_Missense_Mutation_p.R244G|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R244G(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCATCCGGCGTCACTAATG	0.612			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzt.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - Missense(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(730-732)CGT>GGT		GNAS complex locus NESP55							21.0	20.0	20.0					20																	57415891		2199	4287	6486	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415891C>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.730C>G	20.37:g.57415891C>G	ENSP00000323571:p.Arg244Gly	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.R244G	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1097	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.730C>G	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002622	0.74932	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	T	0.62865	0.2463	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67078	-0.5761	8	0.87932	D	0	.	13.3277	0.60469	0.0:1.0:0.0:0.0	.	244	O95467	GNAS3_HUMAN	G	244;244;244;165	.	ENSP00000323571:R244G	R	+	1	0	GNAS	56849286	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.685000	0.37659	2.404000	0.81709	0.585000	0.79938	CGT		0.612	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		4	31	0	0	0	0.009096	0	4	31				
ZNF831	128611	broad.mit.edu	37	20	57768489	57768489	+	Silent	SNP	C	C	A	rs375429526		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57768489C>A	ENST00000371030.2	+	1	2415	c.2415C>A	c.(2413-2415)gtC>gtA	p.V805V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	805							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V805V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGACTGTCCTGAGATGGC	0.627																																							uc002yan.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(2413-2415)GTC>GTA		zinc finger protein 831							29.0	38.0	35.0					20																	57768489		1940	4131	6071	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768489C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2415C>A	20.37:g.57768489C>A							p.V805V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2415	+	all_lung(29;0.0085)		805					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2415C>A	CCDS42894.1																																																																																				0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		27	16	1	0	3.73808e-20	0.005443	5.45085e-20	27	16				
ZNF831	128611	broad.mit.edu	37	20	57829259	57829259	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57829259G>T	ENST00000371030.2	+	5	4495	c.4495G>T	c.(4495-4497)Gtg>Ttg	p.V1499L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1499							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V1499L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCTCTGCCAGTGAGAACAGA	0.507																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4495-4497)GTG>TTG		zinc finger protein 831							60.0	64.0	63.0					20																	57829259		2072	4220	6292	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829259G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4495G>T	20.37:g.57829259G>T	ENSP00000360069:p.Val1499Leu						p.V1499L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4495	+	all_lung(29;0.0085)		1499					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4495G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617324	0.28801	.	.	ENSG00000124203	ENST00000371030	T	0.04406	3.63	5.9	-0.659	0.11424	.	1.237500	0.05611	N	0.578116	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.46816	-0.9164	10	0.27785	T	0.31	1.591	4.9279	0.13903	0.4208:0.1481:0.431:0.0	.	1499	Q5JPB2	ZN831_HUMAN	L	1499	ENSP00000360069:V1499L	ENSP00000360069:V1499L	V	+	1	0	ZNF831	57262654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.480000	0.06559	-0.099000	0.12263	0.650000	0.86243	GTG		0.507	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		51	76	1	0	7.84493e-40	0.00361	1.24378e-39	51	76				
PPP1R3D	5509	broad.mit.edu	37	20	58514485	58514485	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:58514485A>C	ENST00000370996.3	-	1	867	c.502T>G	c.(502-504)Ttt>Gtt	p.F168V	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	168					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.F168V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCTCGCCAAAGTCGGCGGCC	0.662																																							uc002ybb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(502-504)TTT>GTT		protein phosphatase 1, regulatory subunit 3D							12.0	14.0	13.0					20																	58514485		2077	4083	6160	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514485A>C	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.502T>G	20.37:g.58514485A>C	ENSP00000360035:p.Phe168Val					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.F168V	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	868	-	all_lung(29;0.00391)		168					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.502T>G	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	A	33	5.250678	0.95305	.	.	ENSG00000132825	ENST00000370996	T	0.61158	0.13	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.75034	0.3795	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77046	-0.2733	10	0.49607	T	0.09	-13.2391	14.777	0.69738	1.0:0.0:0.0:0.0	.	168	O95685	PPR3D_HUMAN	V	168	ENSP00000360035:F168V	ENSP00000360035:F168V	F	-	1	0	PPP1R3D	57947880	1.000000	0.71417	0.971000	0.41717	0.929000	0.56500	9.057000	0.93889	1.894000	0.54839	0.379000	0.24179	TTT		0.662	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		5	24	0	0	0	0.000602	0	5	24				
CHRNA4	1137	broad.mit.edu	37	20	61978135	61978135	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:61978135C>T	ENST00000370263.4	-	6	2060	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	613					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.G613G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GGCCCACCGTCCCCAGCAGGC	0.647																																							uc002yes.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1837-1839)GGG>GGA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						108.0	67.0	81.0					20																	61978135		2202	4298	6500	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978135C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1839G>A	20.37:g.61978135C>T						CHRNA4_uc002yet.1_Silent_p.G437G|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.G542G|CHRNA4_uc002yev.1_Silent_p.G437G|CHRNA4_uc010gkf.1_Silent_p.G437G	p.G613G	NM_000744	NP_000735	P43681	ACHA4_HUMAN			6	2017	-	all_cancers(38;1.71e-10)		613			Helical; (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1839G>A	CCDS13517.1																																																																																				0.647	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			33	31	0	0	0	0.009535	0	33	31				
SRMS	6725	broad.mit.edu	37	20	62172184	62172184	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62172184C>A	ENST00000217188.1	-	8	1494	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R485I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGTGGCATCTGTGGATGGC	0.682																																							uc002yfi.1		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)|lung(1)	2						c.(1453-1455)AGA>ATA		src-related kinase lacking C-terminal regulatory							102.0	89.0	93.0					20																	62172184		2202	4298	6500	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172184C>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1454G>T	20.37:g.62172184C>A	ENSP00000217188:p.Arg485Ile						p.R485I	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		8	1495	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		485			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1454G>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246195	0.59103	.	.	ENSG00000125508	ENST00000217188	T	0.77229	-1.08	5.17	4.23	0.50019	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.292074	0.29139	N	0.013023	T	0.76018	0.3929	L	0.56280	1.765	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.69416	-0.5151	10	0.87932	D	0	.	6.6085	0.22739	0.0:0.6903:0.1488:0.1609	.	485	Q9H3Y6	SRMS_HUMAN	I	485	ENSP00000217188:R485I	ENSP00000217188:R485I	R	-	2	0	SRMS	61642628	0.271000	0.24162	0.001000	0.08648	0.005000	0.04900	1.393000	0.34497	1.194000	0.43101	-0.140000	0.14226	AGA		0.682	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		19	114	1	0	1.56452e-12	0.007413	2.07335e-12	19	114				
MYT1	4661	broad.mit.edu	37	20	62839102	62839102	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62839102G>T	ENST00000328439.1	+	7	917	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.G185C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G185C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGACTTGGGCCAGGCGGC	0.592																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)GGC>TGC		myelin transcription factor 1							56.0	56.0	56.0					20																	62839102		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839102G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.553G>T	20.37:g.62839102G>T	ENSP00000327465:p.Gly185Cys					MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	p.G185C	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	917	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		185					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.553G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	6.367	0.435750	0.12104	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.84;0.85	4.62	4.62	0.57501	.	0.640100	0.14437	N	0.319622	T	0.41834	0.1176	L	0.47716	1.5	0.31696	N	0.641223	P	0.44309	0.832	B	0.42882	0.401	T	0.53222	-0.8469	10	0.51188	T	0.08	-15.3995	7.1089	0.25378	0.0948:0.1909:0.7142:0.0	.	185	Q01538	MYT1_HUMAN	C	185	ENSP00000327465:G185C;ENSP00000442412:G185C	ENSP00000327465:G185C	G	+	1	0	MYT1	62309546	0.852000	0.29690	0.143000	0.22291	0.104000	0.19210	1.249000	0.32839	2.179000	0.69175	0.540000	0.68198	GGC		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		16	80	1	0	3.41278e-10	0.00499	4.3255e-10	16	80				
PCMTD2	55251	broad.mit.edu	37	20	62904645	62904645	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62904645C>G	ENST00000308824.6	+	6	905	c.778C>G	c.(778-780)Cat>Gat	p.H260D	PCMTD2_ENST00000609372.1_Missense_Mutation_p.H110D|PCMTD2_ENST00000369758.4_Missense_Mutation_p.H233D|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	260						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.H260D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGATTATTCATCAGGAAAC	0.502																																							uc002yil.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(778-780)CAT>GAT		protein-L-isoaspartate (D-aspartate)							68.0	73.0	71.0					20																	62904645		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904645C>G	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.778C>G	20.37:g.62904645C>G	ENSP00000307854:p.His260Asp					PCMTD2_uc002yim.3_Missense_Mutation_p.H233D	p.H260D	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			6	978	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		260					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.778C>G	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.814575	0.50527	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.40756	1.03;1.59;1.02	5.41	2.31	0.28768	.	0.682983	0.15846	N	0.241763	T	0.24967	0.0606	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.16129	-1.0413	10	0.41790	T	0.15	-6.8456	4.8815	0.13681	0.273:0.5242:0.132:0.0708	.	233;260	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	233;260;36	ENSP00000358773:H233D;ENSP00000307854:H260D;ENSP00000266078:H36D	ENSP00000266078:H36D	H	+	1	0	PCMTD2	62375089	0.551000	0.26497	0.001000	0.08648	0.938000	0.57974	2.777000	0.47717	0.214000	0.20742	0.655000	0.94253	CAT		0.502	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		20	107	0	0	0	0.008871	0	20	107				
TPTE	7179	broad.mit.edu	37	21	10910351	10910351	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:10910351C>G	ENST00000361285.4	-	22	1734	c.1405G>C	c.(1405-1407)Ggt>Cgt	p.G469R	TPTE_ENST00000298232.7_Missense_Mutation_p.G451R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.G431R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G469C(1)|p.G469R(1)|p.G451R(1)|p.G451C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGGTAGACCGTCGAATACA	0.338																																							uc002yip.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1405-1407)GGT>CGT		transmembrane phosphatase with tensin homology							242.0	225.0	231.0					21																	10910351		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910351C>G	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.1405G>C	21.37:g.10910351C>G	ENSP00000355208:p.Gly469Arg					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G451R|TPTE_uc002yir.1_Missense_Mutation_p.G431R|TPTE_uc010gkv.1_Missense_Mutation_p.G331R	p.G469R	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)	22	1773	-			469			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1405G>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.550	1.115612	0.20795	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85702	-2.02;-2.02;-2.02	2.25	1.06	0.20224	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.175113	0.50627	D	0.000105	D	0.84079	0.5393	L	0.46157	1.445	0.09310	N	1	D;D;D	0.60575	0.957;0.957;0.988	P;P;P	0.61800	0.819;0.819;0.894	T	0.72537	-0.4263	10	0.25106	T	0.35	-15.6776	5.1976	0.15246	0.6824:0.3176:0.0:0.0	.	431;451;469	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	451;469;431	ENSP00000298232:G451R;ENSP00000355208:G469R;ENSP00000344441:G431R	ENSP00000298232:G451R	G	-	1	0	TPTE	9932222	0.656000	0.27385	0.004000	0.12327	0.007000	0.05969	1.246000	0.32803	0.297000	0.22615	0.184000	0.17185	GGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	101	0	0	0	0.00245	0	13	101				
GRIK1	2897	broad.mit.edu	37	21	30961211	30961211	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:30961211G>T	ENST00000399907.1	-	11	1928	c.1517C>A	c.(1516-1518)gCc>gAc	p.A506D	GRIK1_ENST00000399909.1_Missense_Mutation_p.A491D|GRIK1_ENST00000399914.1_Missense_Mutation_p.A491D|GRIK1_ENST00000327783.4_Missense_Mutation_p.A506D|GRIK1_ENST00000389124.2_Missense_Mutation_p.A506D|GRIK1_ENST00000535441.1_Missense_Mutation_p.A508D|GRIK1_ENST00000399913.1_Missense_Mutation_p.A506D|GRIK1_ENST00000389125.3_Missense_Mutation_p.A491D|GRIK1_ENST00000309434.7_Missense_Mutation_p.A508D	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	506					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A491D(1)|p.A506D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTCATTCTGGGCCCCATATTT	0.378																																							uc002yno.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1516-1518)GCC>GAC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						159.0	153.0	155.0					21																	30961211		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961211G>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1517C>A	21.37:g.30961211G>T	ENSP00000382791:p.Ala506Asp					GRIK1_uc002ynn.2_Missense_Mutation_p.A491D|GRIK1_uc011acs.1_Missense_Mutation_p.A506D|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.A349D	p.A506D	NM_000830	NP_000821	P39086	GRIK1_HUMAN			11	1981	-			506			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1517C>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871937	0.91587	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.81112	2.525	0.80722	D	1	D;P;D;D	0.58620	0.983;0.899;0.983;0.979	D;D;D;D	0.78314	0.991;0.972;0.991;0.985	D	0.89939	0.4071	10	0.87932	D	0	.	18.3315	0.90271	0.0:0.0:1.0:0.0	.	506;491;506;491	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	D	506;491;506;491;508;506;506;491;508	ENSP00000327687:A506D;ENSP00000373777:A491D;ENSP00000382797:A506D;ENSP00000382798:A491D;ENSP00000446326:A508D;ENSP00000373776:A506D;ENSP00000382791:A506D;ENSP00000382793:A491D;ENSP00000311646:A508D	ENSP00000311646:A508D	A	-	2	0	GRIK1	29883082	1.000000	0.71417	0.989000	0.46669	0.861000	0.49209	9.593000	0.98250	2.714000	0.92807	0.650000	0.86243	GCC		0.378	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			43	94	1	0	1.97e-11	0.002522	2.54118e-11	43	94				
GRIK1	2897	broad.mit.edu	37	21	31045363	31045363	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:31045363G>C	ENST00000399907.1	-	4	1077	c.666C>G	c.(664-666)ggC>ggG	p.G222G	GRIK1_ENST00000399909.1_Silent_p.G222G|GRIK1_ENST00000399914.1_Silent_p.G222G|GRIK1_ENST00000327783.4_Silent_p.G222G|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Silent_p.G222G|GRIK1_ENST00000535441.1_Silent_p.G222G|GRIK1_ENST00000399913.1_Silent_p.G222G|GRIK1_ENST00000389125.3_Silent_p.G222G|GRIK1_ENST00000309434.7_Silent_p.G222G	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	222					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G222G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGAACTCCTTGCCTTTCTTCA	0.438																																							uc002yno.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(664-666)GGC>GGG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						152.0	159.0	157.0					21																	31045363		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045363G>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.666C>G	21.37:g.31045363G>C						GRIK1_uc002ynn.2_Silent_p.G222G|GRIK1_uc011acs.1_Silent_p.G222G|GRIK1_uc011act.1_Silent_p.G166G|GRIK1_uc010glq.1_Silent_p.G80G|GRIK1_uc002ynr.2_Silent_p.G222G	p.G222G	NM_000830	NP_000821	P39086	GRIK1_HUMAN			4	1130	-			222			Extracellular (Potential).		Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.666C>G	CCDS42913.1																																																																																				0.438	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			12	256	0	0	0	0.000978	0	12	256				
KRTAP6-3	337968	broad.mit.edu	37	21	31964947	31964947	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:31964947G>A	ENST00000391624.1	+	1	189	c.162G>A	c.(160-162)ctG>ctA	p.L54L	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	54						intermediate filament (GO:0005882)		p.L54L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						atggaggcctgggctgtggct	0.617																																							uc002yom.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CTG>CTA		keratin associated protein 6-3							68.0	79.0	75.0					21																	31964947		2203	4300	6503	SO:0001819	synonymous_variant	337968							g.chr21:31964947G>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.162G>A	21.37:g.31964947G>A							p.L61L	NM_181605	NP_853636					1	189	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.183G>A																																																																																					0.617	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		25	26	0	0	0	0.00632	0	25	26				
MRAP	56246	broad.mit.edu	37	21	33671311	33671312	+	Missense_Mutation	DNP	CA	CA	AT	rs199920536		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:33671311_33671312CA>AT	ENST00000399784.2	+	3	216_217	c.29_30CA>AT	c.(28-30)cCA>cAT	p.P10H	MRAP_ENST00000399786.3_Missense_Mutation_p.P10H|MRAP_ENST00000303645.5_Missense_Mutation_p.P10H|MRAP_ENST00000339944.4_Missense_Mutation_p.P10H|MRAP_ENST00000497833.1_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	10					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.P10H(2)		endometrium(1)|large_intestine(2)|lung(3)	6						GCCTCTGCCCCATACTACAGCT	0.609																																							uc002ypj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(28-30)CCA>CAT		melanocortin 2 receptor accessory protein																																				SO:0001583	missense	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33671311_33671312CA>AT	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	Exception_encountered	21.37:g.33671311_33671312delinsAT	ENSP00000382684:p.Pro10His					MRAP_uc002ypk.2_Missense_Mutation_p.P10H|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.P10H	p.P10H	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			3	216_217	+			10			Cytoplasmic (Potential).		Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	DNP	ENST00000399784.2	37	c.29_30CA>AT	CCDS13613.1																																																																																				0.609	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		19	45	0	0	0	0.004672	0	19	45				
DOPEY2	9980	broad.mit.edu	37	21	37572692	37572692	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:37572692G>A	ENST00000399151.3	+	4	469	c.384G>A	c.(382-384)ctG>ctA	p.L128L	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	128					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L128L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCACCCTGTACGAGAAGT	0.612																																							uc002yvg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(382-384)CTG>CTA		pad-1-like							70.0	67.0	68.0					21																	37572692		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37572692G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.384G>A	21.37:g.37572692G>A						DOPEY2_uc011aeb.1_Silent_p.L128L	p.L128L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			4	463	+			128					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.384G>A	CCDS13643.1																																																																																				0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		11	78	0	0	0	0.000978	0	11	78				
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	607					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662																																							uc002yzn.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1675-1677)CGA>TGA		ankyrin repeat domain 3							42.0	39.0	40.0					21																	43161678		2203	4299	6502	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161678G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1819C>T	21.37:g.43161678G>A	ENSP00000330161:p.Arg607*						p.R559*	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1723	-			559					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.1675C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	RIPK4	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		5	37	0	0	0	0.000602	0	5	37				
UBASH3A	53347	broad.mit.edu	37	21	43857644	43857644	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:43857644C>T	ENST00000319294.6	+	11	1471	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	UBASH3A_ENST00000291535.6_Silent_p.A442A|UBASH3A_ENST00000398367.1_Silent_p.A442A	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	480	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGTGTTTGCCTCCCCAGCCC	0.527																																							uc002zbe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1438-1440)GCC>GCT		ubiquitin associated and SH3 domain containing,							123.0	112.0	116.0					21																	43857644		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43857644C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1440C>T	21.37:g.43857644C>T						UBASH3A_uc002zbf.2_Silent_p.A442A|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Silent_p.A442A	p.A480A	NM_018961	NP_061834	P57075	UBS3A_HUMAN			11	1476	+			480			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1440C>T	CCDS13687.1																																																																																				0.527	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		19	60	0	0	0	0.002299	0	19	60				
SIK1	150094	broad.mit.edu	37	21	44845963	44845963	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:44845963G>T	ENST00000270162.6	-	2	228	c.96C>A	c.(94-96)acC>acA	p.T32T		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	32	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.T32T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CTTTGCCCAGGGTCCGCTCGA	0.682																																							uc002zdf.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(94-96)ACC>ACA		salt-inducible kinase 1							24.0	25.0	25.0					21																	44845963		2200	4298	6498	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44845963G>T	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.96C>A	21.37:g.44845963G>T							p.T32T	NM_173354	NP_775490	P57059	SIK1_HUMAN			2	223	-			32			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.96C>A	CCDS33575.1																																																																																				0.682	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		3	11	1	0	0.004672	0.004672	0.00497434	3	11				
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	RNA	SNP	G	G	A	rs140118179		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:21829507G>A	ENST00000450651.1	-	0	1831							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542																																							uc002zuv.3		NA																	0					0						c.(1636-1638)CTC>TTC		SubName: Full=Putative uncharacterized protein PI4KA;							22.0	17.0	18.0					22																	21829507		676	1519	2195			375133							g.chr22:21829507G>A			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829507G>A						PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron	p.L546F							14	3895	-								Q6ICJ0|Q6ZT68|Q8WUK7	Missense_Mutation	SNP	ENST00000450651.1	37	c.1636C>T																																																																																					0.542	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1			3	7	0	0	0	0.009096	0	3	7				
APOL4	80832	broad.mit.edu	37	22	36587462	36587462	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:36587462G>T	ENST00000352371.1	-	6	938	c.714C>A	c.(712-714)gcC>gcA	p.A238A	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000332987.1_Silent_p.A235A|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	239					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.A238A(1)		lung(1)	1						TCATTTTTGTGGCTTCGTCAA	0.448																																							uc003aox.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)GCC>GCA		apolipoprotein L4 isoform 2 precursor							97.0	91.0	93.0					22																	36587462		2155	4281	6436	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587462G>T	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.714C>A	22.37:g.36587462G>T						APOL4_uc003aow.2_Silent_p.A236A|APOL4_uc010gww.2_Silent_p.A81A	p.A239A	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN			6	942	-			239					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.717C>A																																																																																					0.448	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		9	35	1	0	1.5739e-10	0.004007	2.00649e-10	9	35				
ENTHD1	150350	broad.mit.edu	37	22	40283671	40283671	+	Missense_Mutation	SNP	C	C	A	rs371281900		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:40283671C>A	ENST00000325157.6	-	2	332	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	28	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.D28N(1)|p.D28Y(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCCAAGGGTCGTTAGAAGTT	0.393																																							uc003ayg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(82-84)GAC>TAC		ENTH domain containing 1							100.0	99.0	99.0					22																	40283671		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283671C>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.82G>T	22.37:g.40283671C>A	ENSP00000317431:p.Asp28Tyr						p.D28Y	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	333	-	Melanoma(58;0.0749)		28			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.82G>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141592	0.77775	.	.	ENSG00000176177	ENST00000325157	T	0.53640	0.61	5.72	5.72	0.89469	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.79845	0.4516	H	0.97806	4.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86324	0.1694	10	0.87932	D	0	-15.762	13.5518	0.61736	0.0:0.9197:0.0:0.0803	.	28	Q8IYW4	ENTD1_HUMAN	Y	28	ENSP00000317431:D28Y	ENSP00000317431:D28Y	D	-	1	0	ENTHD1	38613617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.256000	0.51492	2.703000	0.92315	0.655000	0.94253	GAC		0.393	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		26	34	1	0	5.49717e-05	0.00333	6.122e-05	26	34				
CPNE9	151835	broad.mit.edu	37	3	9768831	9768831	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:9768831G>T	ENST00000383832.3	+	20	1627	c.1437G>T	c.(1435-1437)gtG>gtT	p.V479V	CPNE9_ENST00000383831.3_Silent_p.V479V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	479	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V479V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ATGTGCGCGTGTCCTCTAGGG	0.597																																							uc003bsd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1435-1437)GTG>GTT		copine-like protein							202.0	202.0	202.0					3																	9768831		2124	4243	6367	SO:0001819	synonymous_variant	151835							g.chr3:9768831G>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1437G>T	3.37:g.9768831G>T							p.V479V	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN			19	1608	+	Medulloblastoma(99;0.227)		479			VWFA.		A1L430|A6NDX6|A8MSP8	Silent	SNP	ENST00000383832.3	37	c.1437G>T	CCDS2574.2																																																																																				0.597	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		23	85	1	0	2.48779e-11	0.005443	3.19493e-11	23	85				
CAND2	23066	broad.mit.edu	37	3	12856744	12856745	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:12856744_12856745CC>AA	ENST00000456430.2	+	8	1152_1153	c.1111_1112CC>AA	c.(1111-1113)CCc>AAc	p.P371N	CAND2_ENST00000295989.5_Missense_Mutation_p.P278N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	371					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.P278N(1)|p.P371N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGACCTGCTGCCCGATTTCCAC	0.594																																					GBM(43;676 868 1633 6395 37496)	GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(1111-1113)CCC>AAC		TBP-interacting protein isoform 1																																				SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856744_12856745CC>AA		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	Exception_encountered	3.37:g.12856744_12856745delinsAA	ENSP00000387641:p.Pro371Asn					CAND2_uc003bxj.2_Missense_Mutation_p.P278N	p.P371N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			8	1160_1161	+			371					B9EGM9|E9KL24	Missense_Mutation	DNP	ENST00000456430.2	37	c.1111_1112CC>AA	CCDS54554.1																																																																																				0.594	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		39	29	0	0	0	0.004672	0	39	29				
IQSEC1	9922	broad.mit.edu	37	3	12983333	12983333	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:12983333C>A	ENST00000273221.4	-	2	314	c.98G>T	c.(97-99)gGc>gTc	p.G33V	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	33					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G33V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGGATGTGCCAGTCTCACT	0.647																																							uc003bxt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)GGC>GTC		IQ motif and Sec7 domain 1 isoform b							17.0	17.0	17.0					3																	12983333		2201	4298	6499	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12983333C>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.98G>T	3.37:g.12983333C>A	ENSP00000273221:p.Gly33Val					IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.G19V	p.G33V	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			2	107	-			33					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.98G>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.977376|1.977376	0.34848|0.34848	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.77098|.	-1.07;-1.07|.	4.48|4.48	2.64|2.64	0.31445|0.31445	.|.	0.135087|.	0.49916|.	D|.	0.000140|.	T|T	0.58538|0.58538	0.2129|0.2129	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|.	0.28713|.	0.22;0.104|.	B;B|.	0.30495|.	0.116;0.06|.	T|T	0.52275|0.52275	-0.8597|-0.8597	9|4	0.52906|.	T|.	0.07|.	.|.	9.3891|9.3891	0.38361|0.38361	0.0:0.7759:0.1448:0.0793|0.0:0.7759:0.1448:0.0793	.|.	19;33|.	E9PG60;Q6DN90|.	.;IQEC1_HUMAN|.	V|C	33;19;19|33	ENSP00000273221:G33V;ENSP00000402299:G19V|.	ENSP00000273221:G33V|.	G|W	-|-	2|3	0|0	IQSEC1|IQSEC1	12958333|12958333	1.000000|1.000000	0.71417|0.71417	0.293000|0.293000	0.24932|0.24932	0.535000|0.535000	0.34838|0.34838	3.782000|3.782000	0.55401|0.55401	0.487000|0.487000	0.27698|0.27698	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.647	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		10	8	1	0	1.58986e-06	0.008291	1.84112e-06	10	8				
CLASP2	23122	broad.mit.edu	37	3	33626403	33626403	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:33626403C>A	ENST00000468888.2	-	22	2127	c.2081G>T	c.(2080-2082)cGg>cTg	p.R694L	CLASP2_ENST00000307312.7_Missense_Mutation_p.R182L|CLASP2_ENST00000399362.4_Missense_Mutation_p.R693L|CLASP2_ENST00000461133.3_Missense_Mutation_p.R460L|CLASP2_ENST00000359576.5_Missense_Mutation_p.R693L|CLASP2_ENST00000539981.1_Missense_Mutation_p.R463L|CLASP2_ENST00000480013.1_Missense_Mutation_p.R460L			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	460					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.R693L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGACCCAGACCGGCTACCAGC	0.418																																							uc003cfu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2077-2079)CGG>CTG		CLIP-associating protein 2							76.0	74.0	75.0					3																	33626403		1904	4115	6019	SO:0001583	missense	23122							g.chr3:33626403C>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2081G>T	3.37:g.33626403C>A	ENSP00000419974:p.Arg694Leu					CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.R286L	p.R693L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			22	2432	-			694					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2078G>T		.	.	.	.	.	.	.	.	.	.	C	26.9	4.786230	0.90282	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.32515	1.46;1.48;1.45	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.77486	2.375	0.80722	D	1	P;D	0.71674	0.799;0.998	B;D	0.80764	0.349;0.994	T	0.55560	-0.8122	10	0.37606	T	0.19	-5.605	19.7124	0.96100	0.0:1.0:0.0:0.0	.	460;693	O75122;F5H604	CLAP2_HUMAN;.	L	694;693;693;182;463;460;460	ENSP00000419974:R694L;ENSP00000382297:R693L;ENSP00000352581:R693L	ENSP00000304743:R182L	R	-	2	0	CLASP2	33601407	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	7.294000	0.78760	2.664000	0.90586	0.650000	0.86243	CGG		0.418	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		26	31	1	0	4.7796e-09	0.004656	5.90342e-09	26	31				
DCLK3	85443	broad.mit.edu	37	3	36779284	36779284	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:36779284C>A	ENST00000416516.2	-	2	1357	c.867G>T	c.(865-867)agG>agT	p.R289S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	289						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R289S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCTCGGGTCCTGCGGAGCT	0.557																																							uc003cgi.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(865-867)AGG>AGT		doublecortin-like kinase 3							110.0	113.0	112.0					3																	36779284		1912	4123	6035	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779284C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.867G>T	3.37:g.36779284C>A	ENSP00000394484:p.Arg289Ser						p.R289S	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	1358	-			289						Missense_Mutation	SNP	ENST00000416516.2	37	c.867G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	2.911	-0.225443	0.06022	.	.	ENSG00000163673	ENST00000416516	T	0.68025	-0.3	4.72	0.819	0.18785	.	.	.	.	.	T	0.43612	0.1255	L	0.29908	0.895	0.09310	N	1	P	0.37781	0.608	B	0.27608	0.081	T	0.16364	-1.0405	9	0.27082	T	0.32	.	5.2529	0.15532	0.1306:0.4854:0.0:0.3841	.	289	Q9C098	DCLK3_HUMAN	S	289	ENSP00000394484:R289S	ENSP00000394484:R289S	R	-	3	2	DCLK3	36754288	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	0.012000	0.13287	-0.068000	0.12953	-0.150000	0.13652	AGG		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		80	87	1	0	5.98988e-27	0.00361	9.11549e-27	80	87				
CX3CR1	1524	broad.mit.edu	37	3	39307550	39307550	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:39307550G>C	ENST00000541347.1	-	2	690	c.451C>G	c.(451-453)Cta>Gta	p.L151V	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L183V|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L151V|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L151V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	151					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.L183V(1)|p.L151V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGACGCCTAGGCTGATGGTG	0.547																																							uc003cjl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(451-453)CTA>GTA		chemokine (C-X3-C motif) receptor 1							80.0	85.0	83.0					3																	39307550		2075	4208	6283	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307550G>C	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.451C>G	3.37:g.39307550G>C	ENSP00000439140:p.Leu151Val						p.L151V	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	543	-			151			Helical; Name=4; (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.451C>G	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327187	0.10900	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.76	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.602886	0.17355	N	0.177273	T	0.26011	0.0634	N	0.26042	0.785	0.33085	D	0.537202	D	0.53745	0.962	P	0.49683	0.619	T	0.17531	-1.0366	10	0.02654	T	1	.	7.0574	0.25107	0.2446:0.0:0.7553:0.0	.	151	P49238	CX3C1_HUMAN	V	151;159;183;151;151;151	ENSP00000382166:L151V;ENSP00000351059:L183V;ENSP00000439140:L151V;ENSP00000444928:L151V;ENSP00000394960:L151V	ENSP00000351059:L183V	L	-	1	2	CX3CR1	39282554	0.000000	0.05858	0.985000	0.45067	0.910000	0.53928	0.417000	0.21214	1.446000	0.47643	0.655000	0.94253	CTA		0.547	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		7	103	0	0	0	0.001984	0	7	103				
CX3CR1	1524	broad.mit.edu	37	3	39307625	39307625	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:39307625C>A	ENST00000541347.1	-	2	615	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	CX3CR1_ENST00000358309.3_Missense_Mutation_p.D158Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D126Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D126Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	126					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.D158Y(1)|p.D126Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGTACCTATCAATGCTGATG	0.517																																							uc003cjl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(376-378)GAT>TAT		chemokine (C-X3-C motif) receptor 1							107.0	108.0	108.0					3																	39307625		2073	4209	6282	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307625C>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.376G>T	3.37:g.39307625C>A	ENSP00000439140:p.Asp126Tyr						p.D126Y	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	468	-			126			Cytoplasmic (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.376G>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785214	0.90282	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95984	0.8980	10	0.87932	D	0	.	18.5376	0.91015	0.0:1.0:0.0:0.0	.	126	P49238	CX3C1_HUMAN	Y	126;134;158;126;126;126	ENSP00000382166:D126Y;ENSP00000351059:D158Y;ENSP00000439140:D126Y;ENSP00000444928:D126Y;ENSP00000394960:D126Y	ENSP00000351059:D158Y	D	-	1	0	CX3CR1	39282629	1.000000	0.71417	0.928000	0.36995	0.851000	0.48451	6.009000	0.70745	2.732000	0.93576	0.655000	0.94253	GAT		0.517	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		44	43	1	0	3.54909e-21	0.002852	5.2189e-21	44	43				
ANO10	55129	broad.mit.edu	37	3	43618386	43618386	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:43618386T>A	ENST00000292246.3	-	6	1130	c.960A>T	c.(958-960)ccA>ccT	p.P320P	ANO10_ENST00000451430.2_Silent_p.P209P|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Silent_p.P320P|ANO10_ENST00000396091.3_Silent_p.P254P	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	320					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P320P(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCACACGAATGGCAGGGAGA	0.498																																							uc003cmv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(958-960)CCA>CCT		transmembrane protein 16K							113.0	88.0	96.0					3																	43618386		2203	4300	6503	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618386T>A	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.960A>T	3.37:g.43618386T>A						ANO10_uc011azs.1_Silent_p.P320P|ANO10_uc003cmw.2_Silent_p.P254P|ANO10_uc010hil.2_Intron|ANO10_uc011azt.1_Silent_p.P209P	p.P320P	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			6	1131	-			320			Helical; (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.960A>T	CCDS2710.2																																																																																				0.498	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		26	35	0	0	0	0.004656	0	26	35				
RAD54L2	23132	broad.mit.edu	37	3	51696623	51696624	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:51696623_51696624CA>AC	ENST00000409535.2	+	22	3716_3717	c.3591_3592CA>AC	c.(3589-3594)agCAcc>agACcc	p.1197_1198ST>RP	RAD54L2_ENST00000296477.3_Missense_Mutation_p.891_892ST>RP	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1197						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.S1197_T1198>RP(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCTCCCCAAGCACCAATGCCGC	0.629																																							uc011bdt.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(3)	3						c.(3589-3594)AGCACC>AGACCC		RAD54-like 2																																				SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51696623_51696624CA>AC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51696623_51696624delinsAC	ENSP00000386520:p.S1197_T1198delinsRP					RAD54L2_uc003dbh.2_Missense_Mutation_p.786_787ST>RP|RAD54L2_uc011bdu.1_Missense_Mutation_p.891_892ST>RP|RAD54L2_uc003dbj.2_Missense_Mutation_p.523_524ST>RP	p.1197_1198ST>RP	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	3716_3717	+			1197_1198					Q8TB57|Q9BV54	Missense_Mutation	DNP	ENST00000409535.2	37	c.3591_3592CA>AC	CCDS33765.2																																																																																				0.629	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		7	51	0	0	0	0.004672	0	7	51				
DUSP7	1849	broad.mit.edu	37	3	52088240	52088240	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:52088240C>T	ENST00000495880.1	-	2	851	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	DUSP7_ENST00000296483.6_Missense_Mutation_p.R172Q			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	223	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.R172Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGCAGCTCTCGGTCCGACTC	0.677																																							uc003dct.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)CGA>CAA		dual specificity phosphatase 7							97.0	90.0	93.0					3																	52088240		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088240C>T	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.668G>A	3.37:g.52088240C>T	ENSP00000417183:p.Arg223Gln					DUSP7_uc010hma.2_Missense_Mutation_p.R223Q	p.R223Q	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	747	-			223			Ser-rich.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.668G>A	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584137	0.86748	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10005	4.26;4.29;2.92	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.01393	-1.1366	10	0.25751	T	0.34	.	14.0767	0.64893	0.0:0.9267:0.0:0.0733	.	172;223	Q16829-2;Q16829	.;DUS7_HUMAN	Q	223;172;156	ENSP00000417183:R223Q;ENSP00000296483:R172Q;ENSP00000418566:R156Q	ENSP00000296483:R172Q	R	-	2	0	DUSP7	52063280	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	5.938000	0.70170	1.332000	0.45431	0.549000	0.68633	CGA		0.677	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		46	33	0	0	0	0.009718	0	46	33				
PXK	54899	broad.mit.edu	37	3	58368341	58368341	+	Missense_Mutation	SNP	A	A	G	rs144000489		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:58368341A>G	ENST00000356151.2	+	4	411	c.302A>G	c.(301-303)aAc>aGc	p.N101S	PXK_ENST00000302779.5_Missense_Mutation_p.N84S|PXK_ENST00000484288.1_Missense_Mutation_p.N101S|PXK_ENST00000383715.4_Missense_Mutation_p.N84S|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Missense_Mutation_p.N68S|PXK_ENST00000383716.3_Missense_Mutation_p.N68S|PXK_ENST00000479241.1_Missense_Mutation_p.N84S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.N101S(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AACTATCTCAACGTGATCACA	0.383																																							uc003djz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(301-303)AAC>AGC		PX domain containing serine/threonine kinase							126.0	115.0	118.0					3																	58368341		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58368341A>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.302A>G	3.37:g.58368341A>G	ENSP00000348472:p.Asn101Ser					PXK_uc003djx.1_Missense_Mutation_p.N101S|PXK_uc003djy.1_Missense_Mutation_p.N84S|PXK_uc003dka.1_Missense_Mutation_p.N101S|PXK_uc003dkb.1_Missense_Mutation_p.N18S|PXK_uc003dkc.1_Missense_Mutation_p.N84S|PXK_uc011bfe.1_Missense_Mutation_p.N68S|PXK_uc010hnj.1_Missense_Mutation_p.N68S|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	p.N101S	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	4	401	+			101			Protein kinase.|PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.302A>G	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264049	0.59431	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.76	4.6	0.57074	Phox homologous domain (5);Protein kinase, catalytic domain (1);	0.291739	0.42682	N	0.000662	T	0.41259	0.1151	L	0.55017	1.72	0.80722	D	1	P;P;P;P;P;P	0.43938	0.822;0.726;0.684;0.608;0.675;0.634	B;B;B;B;B;B	0.42625	0.393;0.294;0.197;0.272;0.164;0.124	T	0.26710	-1.0095	10	0.48119	T	0.1	-15.1133	11.8261	0.52267	0.9316:0.0:0.0684:0.0	.	68;68;68;101;84;101	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	S	101;84;68;68;84;101;84;92	ENSP00000348472:N101S;ENSP00000305045:N84S;ENSP00000373222:N68S;ENSP00000417903:N68S;ENSP00000373221:N84S;ENSP00000417915:N101S;ENSP00000419049:N84S;ENSP00000418831:N92S	ENSP00000305045:N84S	N	+	2	0	PXK	58343381	1.000000	0.71417	0.820000	0.32676	0.976000	0.68499	6.914000	0.75764	0.995000	0.38917	-0.290000	0.09829	AAC		0.383	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		9	43	0	0	0	0.006214	0	9	43				
MAGI1	9223	broad.mit.edu	37	3	65367627	65367627	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:65367627C>G	ENST00000497477.2	-	16	2625	c.2626G>C	c.(2626-2628)Gtg>Ctg	p.V876L	MAGI1_ENST00000402939.2_Missense_Mutation_p.V876L|MAGI1_ENST00000330909.8_Missense_Mutation_p.V904L|MAGI1_ENST00000483466.1_Missense_Mutation_p.V904L			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	904	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.V904L(1)|p.V876L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGCTGGACCACAAGCTGGTGT	0.507																																							uc003dmn.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2626-2628)GTG>CTG		membrane associated guanylate kinase, WW and PDZ							144.0	121.0	129.0					3																	65367627		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65367627C>G	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2626G>C	3.37:g.65367627C>G	ENSP00000424369:p.Val876Leu					MAGI1_uc003dmm.2_Missense_Mutation_p.V904L|MAGI1_uc003dmo.2_Missense_Mutation_p.V904L|MAGI1_uc003dmp.2_Missense_Mutation_p.V876L|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.V187L	p.V876L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	16	3152	-		Lung NSC(201;0.0016)	904					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2626G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.322143|5.322143	0.95708|0.95708	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T|T;T;T;T;T;T	0.42131|0.46063	0.98|0.88;0.88;0.88;0.88;0.88;0.88	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.118259	.|0.56097	.|D	.|0.000025	T|T	0.67850|0.67850	0.2937|0.2937	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.993;0.998;0.997;1.0	.|D;D;D;D;D	.|0.83275	.|0.996;0.985;0.995;0.982;0.991	T|T	0.71024|0.71024	-0.4712|-0.4712	7|10	0.36615|0.66056	T|D	0.2|0.02	-20.6776|-20.6776	19.2415|19.2415	0.93886|0.93886	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|904;876;904;876;904	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	F|L	784|876;904;800;779;904;876;662	ENSP00000418862:L784F|ENSP00000385450:V876L;ENSP00000331157:V904L;ENSP00000418177:V779L;ENSP00000420323:V904L;ENSP00000424369:V876L;ENSP00000420796:V662L	ENSP00000418862:L784F|ENSP00000331157:V904L	L|V	-|-	3|1	2|0	MAGI1|MAGI1	65342667|65342667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.533000|2.533000	0.85409|0.85409	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.507	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		15	39	0	0	0	0.003163	0	15	39				
EPHA3	2042	broad.mit.edu	37	3	89445102	89445102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:89445102C>A	ENST00000336596.2	+	6	1647	c.1422C>A	c.(1420-1422)taC>taA	p.Y474*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y474*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y474*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	474	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Y474*(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGTCAAATACTATGAAAAGG	0.438										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1420-1422)TAC>TAA		ephrin receptor EphA3 isoform a precursor							172.0	165.0	167.0					3																	89445102		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89445102C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1422C>A	3.37:g.89445102C>A	ENSP00000337451:p.Tyr474*	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y474*|EPHA3_uc010hon.1_RNA	p.Y474*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	6	1647	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	474			Extracellular (Potential).|Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.1422C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807854	0.96967	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.96	2.09	0.27110	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7084	0.40229	0.0:0.7134:0.0:0.2866	.	.	.	.	X	474	.	.	Y	+	3	2	EPHA3	89527792	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.656000	0.37355	0.095000	0.17434	0.655000	0.94253	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		38	55	1	0	4.92203e-23	0.00623	7.33676e-23	38	55				
OR5AC2	81050	broad.mit.edu	37	3	97806523	97806523	+	Silent	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:97806523T>G	ENST00000358642.2	+	1	507	c.507T>G	c.(505-507)acT>acG	p.T169T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	169					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.T169T(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGCGACTAACTTTCTGCAGGT	0.338																																							uc011bgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(505-507)ACT>ACG		olfactory receptor, family 5, subfamily AC,							107.0	109.0	108.0					3																	97806523		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806523T>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.507T>G	3.37:g.97806523T>G							p.T169T	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	507	+			169			Extracellular (Potential).			Silent	SNP	ENST00000358642.2	37	c.507T>G	CCDS33796.1																																																																																				0.338	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			5	236	0	0	0	0.000602	0	5	236				
OR5K2	402135	broad.mit.edu	37	3	98217388	98217388	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:98217388C>A	ENST00000427338.1	+	1	941	c.864C>A	c.(862-864)ttC>ttA	p.F288L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F288L(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAATCCTTTCATTTATAGTC	0.308																																							uc011bgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(862-864)TTC>TTA		olfactory receptor, family 5, subfamily K,							45.0	49.0	48.0					3																	98217388		2190	4284	6474	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217388C>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.864C>A	3.37:g.98217388C>A	ENSP00000393889:p.Phe288Leu						p.F288L	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	864	+			288			Helical; Name=7; (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.864C>A	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.522521	0.00967	.	.	ENSG00000231861	ENST00000427338	T	0.34667	1.35	2.78	-0.978	0.10279	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000816	T	0.11324	0.0276	N	0.03608	-0.345	0.80722	D	1	B	0.27679	0.185	B	0.29942	0.109	T	0.32613	-0.9900	10	0.02654	T	1	-19.5121	6.6079	0.22735	0.0:0.3956:0.0:0.6044	.	288	Q8NHB8	OR5K2_HUMAN	L	288	ENSP00000393889:F288L	ENSP00000393889:F288L	F	+	3	2	OR5K2	99700078	0.000000	0.05858	0.996000	0.52242	0.272000	0.26649	-3.509000	0.00447	-0.215000	0.10063	-0.339000	0.08088	TTC		0.308	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			10	29	1	0	1.08611e-07	0.000978	1.29383e-07	10	29				
ABI3BP	25890	broad.mit.edu	37	3	100605099	100605099	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:100605099G>T	ENST00000284322.5	-	5	660	c.551C>A	c.(550-552)aCt>aAt	p.T184N	ABI3BP_ENST00000495063.1_Missense_Mutation_p.T184N|ABI3BP_ENST00000471714.1_Missense_Mutation_p.T184N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	184	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.T184N(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATTGTTTCAGTGGCTGGACA	0.333																																							uc003dun.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(550-552)ACT>AAT		ABI gene family, member 3 (NESH) binding protein							107.0	93.0	98.0					3																	100605099		1814	4069	5883	SO:0001583	missense	25890					extracellular space		g.chr3:100605099G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.551C>A	3.37:g.100605099G>T	ENSP00000284322:p.Thr184Asn					ABI3BP_uc003duo.2_Missense_Mutation_p.T177N|ABI3BP_uc003dup.3_Missense_Mutation_p.T177N	p.T184N	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			5	636	-			184			Fibronectin type-III 1.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.551C>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953118	0.73902	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.58210	0.79;0.79;0.79;0.35;0.35	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.190414	0.56097	D	0.000040	T	0.69415	0.3108	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.995	T	0.67070	-0.5763	10	0.46703	T	0.11	-15.7861	19.8533	0.96747	0.0:0.0:1.0:0.0	.	177;184;184	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	N	184;184;184;103;124	ENSP00000420524:T184N;ENSP00000284322:T184N;ENSP00000433993:T184N;ENSP00000435319:T103N;ENSP00000436918:T124N	ENSP00000284322:T184N	T	-	2	0	ABI3BP	102087789	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.030000	0.70903	2.695000	0.91970	0.555000	0.69702	ACT		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			14	28	1	0	4.36969e-10	0.001855	5.53029e-10	14	28				
TRMT10C	54931	broad.mit.edu	37	3	101284693	101284693	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:101284693G>T	ENST00000309922.6	+	2	1222	c.1068G>T	c.(1066-1068)atG>atT	p.M356I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	356	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.M356I(1)									TAGATCAAATGATACGTATTT	0.378																																						Colon(61;905 1056 3196 19548 40505)	uc003duz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1066-1068)ATG>ATT		RNA (guanine-9-) methyltransferase domain							49.0	49.0	49.0					3																	101284693		1827	4070	5897	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101284693G>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.1068G>T	3.37:g.101284693G>T	ENSP00000312356:p.Met356Ile						p.M356I	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	1216	+			356					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.1068G>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176184	0.78564	.	.	ENSG00000174173	ENST00000309922	T	0.18657	2.2	6.04	5.17	0.71159	.	0.119691	0.85682	D	0.000000	T	0.39091	0.1065	M	0.77406	2.37	0.58432	D	0.999998	D	0.54047	0.964	P	0.51615	0.675	T	0.36212	-0.9757	10	0.52906	T	0.07	-27.5091	15.3473	0.74350	0.0666:0.0:0.9334:0.0	.	356	Q7L0Y3	MRRP1_HUMAN	I	356	ENSP00000312356:M356I	ENSP00000312356:M356I	M	+	3	0	RG9MTD1	102767383	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.336000	0.72954	1.568000	0.49683	0.563000	0.77884	ATG		0.378	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		13	25	1	0	2.27111e-07	0.001368	2.68348e-07	13	25				
ZBTB11	27107	broad.mit.edu	37	3	101370066	101370066	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:101370066C>A	ENST00000312938.4	-	11	3686	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1036S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATAGCTTCTGCAACTTCAGAT	0.363																																							uc003dve.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3106-3108)GCA>TCA		zinc finger protein ZNF-U69274							134.0	132.0	133.0					3																	101370066		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370066C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3106G>T	3.37:g.101370066C>A	ENSP00000326200:p.Ala1036Ser						p.A1036S	NM_014415	NP_055230	O95625	ZBT11_HUMAN			11	3336	-			1036					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.3106G>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675999	0.47886	.	.	ENSG00000066422	ENST00000312938	T	0.10477	2.87	5.39	4.28	0.50868	.	0.176769	0.49916	D	0.000135	T	0.04407	0.0121	N	0.08118	0	0.80722	D	1	B	0.23442	0.085	B	0.19666	0.026	T	0.43988	-0.9357	10	0.20519	T	0.43	-9.885	4.6384	0.12536	0.0:0.7652:0.0:0.2348	.	1036	O95625	ZBT11_HUMAN	S	1036	ENSP00000326200:A1036S	ENSP00000326200:A1036S	A	-	1	0	ZBTB11	102852756	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.398000	0.44486	2.692000	0.91855	0.555000	0.69702	GCA		0.363	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		30	54	1	0	1.06801e-11	0.009535	1.38794e-11	30	54				
MYH15	22989	broad.mit.edu	37	3	108188944	108188944	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:108188944C>A	ENST00000273353.3	-	15	1615	c.1559G>T	c.(1558-1560)tGg>tTg	p.W520L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	520	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.W520L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATAGACACCCATTCAATGCT	0.338																																							uc003dxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(1558-1560)TGG>TTG		myosin, heavy polypeptide 15							152.0	141.0	144.0					3																	108188944		1853	4100	5953	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108188944C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1559G>T	3.37:g.108188944C>A	ENSP00000273353:p.Trp520Leu						p.W520L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			15	1616	-			520			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1559G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411137	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.89123	-2.47	6.01	5.13	0.70059	Myosin head, motor domain (2);	.	.	.	.	D	0.96352	0.8810	H	0.97158	3.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97496	1.0057	9	0.87932	D	0	.	14.3758	0.66874	0.0:0.9286:0.0:0.0714	.	520	Q9Y2K3	MYH15_HUMAN	L	520	ENSP00000273353:W520L	ENSP00000273353:W520L	W	-	2	0	MYH15	109671634	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	3.829000	0.55760	1.529000	0.49120	0.650000	0.86243	TGG		0.338	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		25	25	1	0	4.7796e-09	0.004656	5.90342e-09	25	25				
ZNF80	7634	broad.mit.edu	37	3	113955154	113955154	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:113955154G>A	ENST00000482457.2	-	1	1271	c.768C>T	c.(766-768)taC>taT	p.Y256Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y256Y(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AAGCAGAGTGGTAGCCAAAGT	0.408																																					GBM(23;986 1114 21716)	GBM(23;986 1114 21716)	uc010hqo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)TAC>TAT		zinc finger protein 80							86.0	88.0	87.0					3																	113955154		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955154G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.768C>T	3.37:g.113955154G>A						ZNF80_uc003ebf.2_RNA	p.Y256Y	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1272	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	256					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.768C>T	CCDS2979.1																																																																																				0.408	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		12	81	0	0	0	0.001368	0	12	81				
ACPP	55	broad.mit.edu	37	3	132056327	132056327	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:132056327C>T	ENST00000336375.5	+	5	574	c.484C>T	c.(484-486)Cct>Tct	p.P162S	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.P162S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	162					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.P162S(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGGAACTGCCCTCGTTTTCA	0.373																																							uc010htp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(484-486)CCT>TCT		acid phosphatase, prostate short isoform							110.0	103.0	105.0					3																	132056327		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132056327C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.484C>T	3.37:g.132056327C>T	ENSP00000337471:p.Pro162Ser					ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Missense_Mutation_p.P162S	p.P162S	NM_001099	NP_001090	P15309	PPAP_HUMAN			5	574	+			162					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.484C>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045994	0.75846	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000351273	T;T;T	0.35789	1.29;1.29;1.29	5.62	4.75	0.60458	.	0.000000	0.64402	D	0.000002	T	0.59676	0.2211	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.929	T	0.65421	-0.6172	10	0.87932	D	0	.	13.7358	0.62817	0.0:0.9243:0.0:0.0757	.	162;162	P15309;P15309-2	PPAP_HUMAN;.	S	162;133;162	ENSP00000337471:P162S;ENSP00000418366:P133S;ENSP00000323036:P162S	ENSP00000337471:P162S	P	+	1	0	ACPP	133539017	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.109000	0.57824	1.363000	0.46019	0.655000	0.94253	CCT		0.373	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		48	62	0	0	0	0.00361	0	48	62				
SLCO2A1	6578	broad.mit.edu	37	3	133672506	133672506	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:133672506C>A	ENST00000310926.4	-	5	998		c.e5+1		SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CACATACTCACCTGTGTTGAC	0.527																																							uc003eqa.3		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e5+1		solute carrier organic anion transporter family,							77.0	73.0	74.0					3																	133672506		2203	4300	6503	SO:0001630	splice_region_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672506C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.724+1G>T	3.37:g.133672506C>A						SLCO2A1_uc003eqb.3_Splice_Site_p.A166_splice|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Splice_Site_p.A74_splice	p.A242_splice	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			5	998	-								Q86V98|Q8IUN2	Splice_Site	SNP	ENST00000310926.4	37	c.724_splice	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437474	0.43224	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO2A1	135155196	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	6.907000	0.75724	2.526000	0.85167	0.561000	0.74099	.		0.527	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	Intron	32	34	1	0	1.08312e-15	0.009535	1.50395e-15	32	34				
STAG1	10274	broad.mit.edu	37	3	136078061	136078061	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:136078061C>T	ENST00000383202.2	-	27	3121	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	STAG1_ENST00000536929.1_Silent_p.L539L|STAG1_ENST00000434713.2_Silent_p.L695L|STAG1_ENST00000236698.5_Silent_p.L955L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	955					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L955L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGCGACGTGCCAGTTCTTTAA	0.413																																							uc003era.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2863-2865)CTG>CTA		stromal antigen 1							124.0	112.0	116.0					3																	136078061		2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136078061C>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2865G>A	3.37:g.136078061C>T						STAG1_uc003erb.1_Silent_p.L955L	p.L955L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			27	3157	-			955					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2865G>A	CCDS3090.1																																																																																				0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		29	25	0	0	0	0.007291	0	29	25				
ATR	545	broad.mit.edu	37	3	142224081	142224081	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:142224081T>G	ENST00000350721.4	-	29	5217	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	ATR_ENST00000383101.3_Missense_Mutation_p.E1635A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1699	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1699A(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAGAGATGGTTCTGCCTTTCT	0.423								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(5095-5097)GAA>GCA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							222.0	219.0	220.0					3																	142224081		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142224081T>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5096A>C	3.37:g.142224081T>G	ENSP00000343741:p.Glu1699Ala						p.E1699A	NM_001184	NP_001175	Q13535	ATR_HUMAN			29	5218	-			1699			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5096A>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516756	0.64634	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03496	3.91;3.94	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.54323	1.7	0.80722	D	1	P	0.52577	0.954	P	0.49226	0.603	T	0.17837	-1.0356	10	0.37606	T	0.19	-20.1249	15.6822	0.77381	0.0:0.0:0.0:1.0	.	1699	Q13535	ATR_HUMAN	A	1699;1635	ENSP00000343741:E1699A;ENSP00000372581:E1635A	ENSP00000343741:E1699A	E	-	2	0	ATR	143706771	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.091000	0.63221	0.533000	0.62120	GAA		0.423	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		112	109	0	0	0	0.00361	0	112	109				
SLC9A9	285195	broad.mit.edu	37	3	143271264	143271264	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:143271264G>T	ENST00000316549.6	-	9	1237	c.1029C>A	c.(1027-1029)gtC>gtA	p.V343V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	343					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.V343V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTGCTTGTGTGACTCCACAGA	0.353																																							uc003evn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1027-1029)GTC>GTA		solute carrier family 9 (sodium/hydrogen							106.0	100.0	102.0					3																	143271264		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143271264G>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1029C>A	3.37:g.143271264G>T							p.V343V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			9	1211	-			343			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1029C>A	CCDS33872.1																																																																																				0.353	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		35	30	1	0	3.66082e-28	0.005524	5.60041e-28	35	30				
CP	1356	broad.mit.edu	37	3	148919898	148919898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:148919898C>A	ENST00000264613.6	-	7	1601	c.1339G>T	c.(1339-1341)Ggc>Tgc	p.G447C		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	447	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.G447C(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCCAGGATGCCAAGATGCTCT	0.443																																							uc003ewy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1339-1341)GGC>TGC		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						118.0	118.0	118.0					3																	148919898		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148919898C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1339G>T	3.37:g.148919898C>A	ENSP00000264613:p.Gly447Cys					CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G228C|CP_uc003ewz.2_Missense_Mutation_p.G447C|CP_uc010hvf.1_Missense_Mutation_p.G173C	p.G447C	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	1592	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	447			Plastocyanin-like 3.|F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1339G>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759442	0.89932	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99214	-5.57;-5.57	5.49	5.49	0.81192	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.95574	3.69	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	0.97903	1.0304	10	0.87932	D	0	-21.8456	18.7132	0.91666	0.0:1.0:0.0:0.0	.	447;447;447;447	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	C	447;230	ENSP00000264613:G447C;ENSP00000420545:G230C	ENSP00000264613:G447C	G	-	1	0	CP	150402588	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.989000	0.76219	2.732000	0.93576	0.650000	0.86243	GGC		0.443	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		49	48	1	0	1.86277e-20	0.00361	2.72998e-20	49	48				
GOLIM4	27333	broad.mit.edu	37	3	167728113	167728113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:167728113C>A	ENST00000470487.1	-	16	2724	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E651*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	679	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E679*(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						tcttcttcctcctcttcttcc	0.468																																							uc003ffe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(4)|skin(1)	5						c.(2035-2037)GAG>TAG		golgi integral membrane protein 4							181.0	173.0	176.0					3																	167728113		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728113C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.2035G>T	3.37:g.167728113C>A	ENSP00000417354:p.Glu679*					GOLIM4_uc011bpe.1_Nonsense_Mutation_p.E680*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.E652*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.E651*	p.E679*	NM_014498	NP_055313	O00461	GOLI4_HUMAN			16	2379	-			679			Glu-rich.|Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.2035G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	42	9.800436	0.99267	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.73	4.73	0.59995	.	0.410669	0.28730	N	0.014339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-10.241	16.3151	0.82915	0.0:1.0:0.0:0.0	.	.	.	.	X	679;651	.	ENSP00000309893:E651X	E	-	1	0	GOLIM4	169210807	0.998000	0.40836	0.977000	0.42913	0.545000	0.35147	4.634000	0.61325	2.328000	0.79073	0.644000	0.83932	GAG		0.468	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			84	153	1	0	5.72486e-32	0.00361	8.93038e-32	84	153				
MECOM	2122	broad.mit.edu	37	3	168830606	168830606	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:168830606C>A	ENST00000464456.1	-	8	3182	c.1982G>T	c.(1981-1983)aGg>aTg	p.R661M	MECOM_ENST00000468789.1_Missense_Mutation_p.R661M|MECOM_ENST00000433243.2_Missense_Mutation_p.R662M|MECOM_ENST00000460814.1_Missense_Mutation_p.R661M|MECOM_ENST00000392736.3_Missense_Mutation_p.R661M|MECOM_ENST00000494292.1_Missense_Mutation_p.R849M|MECOM_ENST00000472280.1_Missense_Mutation_p.R662M|MECOM_ENST00000264674.3_Missense_Mutation_p.R726M	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R661M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGAGAAGGCCTCAAGTATTT	0.368																																							uc003ffi.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1981-1983)AGG>ATG		MDS1 and EVI1 complex locus isoform b							164.0	178.0	173.0					3																	168830606		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168830606C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1982G>T	3.37:g.168830606C>A	ENSP00000419770:p.Arg661Met					MECOM_uc010hwk.1_Missense_Mutation_p.R684M|MECOM_uc003ffj.3_Missense_Mutation_p.R726M|MECOM_uc011bpi.1_Missense_Mutation_p.R662M|MECOM_uc003ffn.3_Missense_Mutation_p.R661M|MECOM_uc003ffk.2_Missense_Mutation_p.R661M|MECOM_uc003ffl.2_Missense_Mutation_p.R821M|MECOM_uc011bpj.1_Missense_Mutation_p.R849M|MECOM_uc011bpk.1_Missense_Mutation_p.R651M|MECOM_uc010hwn.2_Missense_Mutation_p.R849M	p.R661M	NM_005241	NP_005232	Q03112	EVI1_HUMAN			8	2251	-			661					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1982G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299198	0.81025	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.13307	3.2;3.19;3.21;3.28;3.2;3.19;3.2;3.28;2.6	6.17	6.17	0.99709	.	0.151444	0.47852	D	0.000220	T	0.35566	0.0936	L	0.55990	1.75	0.51012	D	0.999904	D;D;D;D;P	0.67145	0.996;0.958;0.993;0.958;0.944	D;P;P;P;P	0.65443	0.935;0.748;0.77;0.748;0.541	T	0.00461	-1.1725	10	0.87932	D	0	-17.7268	20.8794	0.99867	0.0:1.0:0.0:0.0	.	849;662;849;726;661	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	M	726;661;661;662;849;661;661;662;312	ENSP00000264674:R726M;ENSP00000376493:R661M;ENSP00000419770:R661M;ENSP00000420048:R662M;ENSP00000417899:R849M;ENSP00000419995:R661M;ENSP00000420466:R661M;ENSP00000394302:R662M;ENSP00000417506:R312M	ENSP00000264674:R726M	R	-	2	0	MECOM	170313300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.941000	0.99782	0.655000	0.94253	AGG		0.368	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		49	129	1	0	4.44712e-29	0.00361	6.87569e-29	49	129				
MECOM	2122	broad.mit.edu	37	3	168830608	168830608	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:168830608C>A	ENST00000464456.1	-	8	3180	c.1980G>T	c.(1978-1980)ttG>ttT	p.L660F	MECOM_ENST00000468789.1_Missense_Mutation_p.L660F|MECOM_ENST00000433243.2_Missense_Mutation_p.L661F|MECOM_ENST00000460814.1_Missense_Mutation_p.L660F|MECOM_ENST00000392736.3_Missense_Mutation_p.L660F|MECOM_ENST00000494292.1_Missense_Mutation_p.L848F|MECOM_ENST00000472280.1_Missense_Mutation_p.L661F|MECOM_ENST00000264674.3_Missense_Mutation_p.L725F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L660F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGAAGGCCTCAAGTATTTCT	0.363																																							uc003ffi.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1978-1980)TTG>TTT		MDS1 and EVI1 complex locus isoform b							165.0	179.0	174.0					3																	168830608		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168830608C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1980G>T	3.37:g.168830608C>A	ENSP00000419770:p.Leu660Phe					MECOM_uc010hwk.1_Missense_Mutation_p.L683F|MECOM_uc003ffj.3_Missense_Mutation_p.L725F|MECOM_uc011bpi.1_Missense_Mutation_p.L661F|MECOM_uc003ffn.3_Missense_Mutation_p.L660F|MECOM_uc003ffk.2_Missense_Mutation_p.L660F|MECOM_uc003ffl.2_Missense_Mutation_p.L820F|MECOM_uc011bpj.1_Missense_Mutation_p.L848F|MECOM_uc011bpk.1_Missense_Mutation_p.L650F|MECOM_uc010hwn.2_Missense_Mutation_p.L848F	p.L660F	NM_005241	NP_005232	Q03112	EVI1_HUMAN			8	2249	-			660					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1980G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275874	0.80580	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.17213	3.24;3.24;3.21;3.33;3.21;3.24;3.21;3.33;2.29	6.17	6.17	0.99709	.	0.113996	0.40064	N	0.001191	T	0.31327	0.0793	L	0.46157	1.445	0.48571	D	0.999675	D;D;D;D;P	0.61080	0.989;0.96;0.96;0.96;0.947	P;P;P;P;P	0.59424	0.857;0.59;0.624;0.663;0.523	T	0.00254	-1.1874	10	0.62326	D	0.03	-10.176	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	848;661;848;725;660	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	F	725;660;660;661;848;660;660;661;311	ENSP00000264674:L725F;ENSP00000376493:L660F;ENSP00000419770:L660F;ENSP00000420048:L661F;ENSP00000417899:L848F;ENSP00000419995:L660F;ENSP00000420466:L660F;ENSP00000394302:L661F;ENSP00000417506:L311F	ENSP00000264674:L725F	L	-	3	2	MECOM	170313302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.941000	0.99782	0.655000	0.94253	TTG		0.363	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		49	126	1	0	4.44712e-29	0.00361	6.87569e-29	49	126				
MCCC1	56922	broad.mit.edu	37	3	182775145	182775145	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:182775145C>A	ENST00000265594.4	-	8	973	c.827G>T	c.(826-828)tGt>tTt	p.C276F	MCCC1_ENST00000539926.1_Missense_Mutation_p.C141F|MCCC1_ENST00000492597.1_Missense_Mutation_p.C167F	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	276	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.		C -> R (in MCC1D). {ECO:0000269|PubMed:22150417}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.C276F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGCACACTACAGTCTCTTTC	0.413																																							uc003fle.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(826-828)TGT>TTT		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						95.0	80.0	85.0					3																	182775145		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182775145C>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.827G>T	3.37:g.182775145C>A	ENSP00000265594:p.Cys276Phe					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.C159F|MCCC1_uc003flg.2_Missense_Mutation_p.C167F|MCCC1_uc011bqp.1_Missense_Mutation_p.C229F|MCCC1_uc011bqq.1_Missense_Mutation_p.C167F	p.C276F	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		8	964	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		276			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.827G>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537544	0.85917	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	5.46	5.46	0.80206	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.98080	1.0403	10	0.87932	D	0	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	229;167;276	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	F	276;167;126;141;229;229;167	ENSP00000265594:C276F;ENSP00000419898:C167F;ENSP00000441253:C141F;ENSP00000420433:C229F	ENSP00000265594:C276F	C	-	2	0	MCCC1	184257839	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.161000	0.77505	2.572000	0.86782	0.467000	0.42956	TGT		0.413	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		9	23	1	0	1.76689e-08	0.006214	2.15186e-08	9	23				
ATP13A5	344905	broad.mit.edu	37	3	193052754	193052754	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:193052754C>A	ENST00000342358.4	-	10	1195	c.1078G>T	c.(1078-1080)Ggg>Tgg	p.G360W		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	360						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G360W(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCCCTGCCCAGAGGGCTTG	0.458																																							uc011bsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(1078-1080)GGG>TGG		ATPase type 13A5							112.0	112.0	112.0					3																	193052754		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193052754C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1078G>T	3.37:g.193052754C>A	ENSP00000341942:p.Gly360Trp						p.G360W	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	10	1078	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		360					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1078G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060491	0.55432	.	.	ENSG00000187527	ENST00000342358	D	0.88664	-2.41	5.87	5.87	0.94306	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.168901	0.41938	D	0.000790	D	0.95639	0.8582	M	0.91300	3.195	0.37965	D	0.933101	D	0.67145	0.996	D	0.67382	0.951	D	0.96988	0.9720	10	0.72032	D	0.01	-9.7917	18.7725	0.91898	0.0:1.0:0.0:0.0	.	360	Q4VNC0	AT135_HUMAN	W	360	ENSP00000341942:G360W	ENSP00000341942:G360W	G	-	1	0	ATP13A5	194535448	0.919000	0.31177	1.000000	0.80357	0.756000	0.42949	4.029000	0.57253	2.791000	0.96007	0.655000	0.94253	GGG		0.458	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		61	33	1	0	9.4991e-31	0.00361	1.47651e-30	61	33				
LRRC15	131578	broad.mit.edu	37	3	194081122	194081122	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:194081122A>G	ENST00000347624.3	-	2	736	c.651T>C	c.(649-651)ttT>ttC	p.F217F	LRRC15_ENST00000439944.2_Silent_p.F223F|LRRC15_ENST00000428839.1_Silent_p.F223F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	217					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.F217F(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAAGCCCATCAAAAGTGCCCA	0.567																																							uc003ftu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(649-651)TTT>TTC		leucine rich repeat containing 15 isoform b							153.0	156.0	155.0					3																	194081122		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081122A>G	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.651T>C	3.37:g.194081122A>G						LRRC15_uc003ftt.2_Silent_p.F223F	p.F217F	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	737	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		217			Extracellular (Potential).|LRR 7.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.651T>C	CCDS3306.1																																																																																				0.567	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			119	95	0	0	0	0.00361	0	119	95				
RNF212	285498	broad.mit.edu	37	4	1073435	1073435	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:1073435C>A	ENST00000433731.2	-	8	567	c.506G>T	c.(505-507)aGa>aTa	p.R169I	RNF212_ENST00000382968.5_Missense_Mutation_p.R169I			Q495C1	RN212_HUMAN	ring finger protein 212	169					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R169I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		ACTTACTTTTCTAATCGGAGA	0.453																																							uc003gcj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(505-507)AGA>ATA		ring finger protein 212 isoform a							196.0	174.0	181.0					4																	1073435		2203	4300	6503	SO:0001583	missense	285498						zinc ion binding	g.chr4:1073435C>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.506G>T	4.37:g.1073435C>A	ENSP00000389709:p.Arg169Ile					RNF212_uc003gch.2_Missense_Mutation_p.R11I|RNF212_uc003gci.2_Missense_Mutation_p.R169I|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron	p.R169I	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	8	836	-			169					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.506G>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846554	0.51164	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	T	0.54675	0.56	3.66	1.71	0.24356	.	.	.	.	.	T	0.58708	0.2141	L	0.54323	1.7	0.09310	N	0.999998	D;D;D	0.65815	0.995;0.964;0.98	P;P;P	0.61592	0.891;0.7;0.814	T	0.44742	-0.9308	9	0.62326	D	0.03	-3.6269	4.5711	0.12210	0.0:0.6422:0.2287:0.1291	.	169;169;169	Q495C1;Q495C1-5;Q495C1-3	RN212_HUMAN;.;.	I	169	ENSP00000389709:R169I	ENSP00000372428:R169I	R	-	2	0	RNF212	1063435	0.863000	0.29885	0.013000	0.15412	0.082000	0.17680	1.378000	0.34328	0.853000	0.35312	0.651000	0.88453	AGA		0.453	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		19	95	1	0	1.67942e-08	0.006122	2.04818e-08	19	95				
HTT	3064	broad.mit.edu	37	4	3176790	3176790	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:3176790C>T	ENST00000355072.5	+	33	4508	c.4363C>T	c.(4363-4365)Ctg>Ttg	p.L1455L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1455					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.L1455L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTGGCGCAGCTGGTTCAGTT	0.373																																							uc011bvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(4369-4371)CTG>TTG		huntingtin							162.0	145.0	150.0					4																	3176790		1852	4116	5968	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3176790C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4363C>T	4.37:g.3176790C>T							p.L1457L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	34	4514	+		all_epithelial(65;0.18)	1455					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.4369C>T	CCDS43206.1																																																																																				0.373	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		27	81	0	0	0	0.00632	0	27	81				
RGS12	6002	broad.mit.edu	37	4	3441279	3441279	+	Silent	SNP	G	G	C	rs186552583		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:3441279G>C	ENST00000344733.5	+	18	5116	c.4212G>C	c.(4210-4212)gcG>gcC	p.A1404A	RGS12_ENST00000338806.4_Silent_p.A756A|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1404					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.A1404A(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGGCATAGCGGGGGCACAGG	0.662																																							uc003ggw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(4210-4212)GCG>GCC		regulator of G-protein signalling 12 isoform 1																																				SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441279G>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4212G>C	4.37:g.3441279G>C						RGS12_uc003ggz.2_Silent_p.A756A|RGS12_uc003gha.2_Silent_p.A746A|RGS12_uc010icv.2_Silent_p.A603A|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	p.A1404A	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5116	+			1404					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.4212G>C	CCDS3366.1																																																																																				0.662	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		13	49	0	0	0	0.00245	0	13	49				
OTOP1	133060	broad.mit.edu	37	4	4190608	4190608	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:4190608G>T	ENST00000296358.4	-	6	1785	c.1761C>A	c.(1759-1761)gtC>gtA	p.V587V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	587					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.V587V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCAGGTTGACCACAATTA	0.473																																							uc003ghp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1759-1761)GTC>GTA		otopetrin 1							59.0	62.0	61.0					4																	4190608		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190608G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1761C>A	4.37:g.4190608G>T							p.V587V	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	1791	-			587			Helical; (Potential).		A1L476	Silent	SNP	ENST00000296358.4	37	c.1761C>A	CCDS3372.1																																																																																				0.473	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		12	151	1	0	1.3612e-06	0.003163	1.57842e-06	12	151				
STK32B	55351	broad.mit.edu	37	4	5141635	5141635	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:5141635A>T	ENST00000282908.5	+	2	478	c.56A>T	c.(55-57)aAc>aTc	p.N19I	STK32B_ENST00000510398.1_5'UTR|STK32B_ENST00000512636.1_5'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.N19I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TTTGCAGTCAACTTTGACCAT	0.383																																							uc003gih.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(55-57)AAC>ATC		serine/threonine kinase 32B							155.0	160.0	158.0					4																	5141635		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5141635A>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.56A>T	4.37:g.5141635A>T	ENSP00000282908:p.Asn19Ile					STK32B_uc010ida.1_5'UTR	p.N19I	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			2	120	+			19						Missense_Mutation	SNP	ENST00000282908.5	37	c.56A>T	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012904	0.54468	.	.	ENSG00000152953	ENST00000282908	T	0.68025	-0.3	5.59	4.39	0.52855	Protein kinase-like domain (1);	0.000000	0.41712	U	0.000830	T	0.64527	0.2606	L	0.53780	1.695	0.80722	D	1	P	0.45396	0.857	P	0.45506	0.483	T	0.65849	-0.6068	10	0.72032	D	0.01	.	9.6506	0.39895	0.8242:0.1758:0.0:0.0	.	19	Q9NY57	ST32B_HUMAN	I	19	ENSP00000282908:N19I	ENSP00000282908:N19I	N	+	2	0	STK32B	5192536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.222000	0.51223	0.919000	0.36945	0.482000	0.46254	AAC		0.383	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	165	0	0	0	0.001168	0	5	165				
EVC2	132884	broad.mit.edu	37	4	5624461	5624461	+	Silent	SNP	C	C	A	rs139936564		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:5624461C>A	ENST00000344408.5	-	14	2357	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	EVC2_ENST00000310917.2_Silent_p.V688V|EVC2_ENST00000344938.1_Silent_p.V768V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	768					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V768V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGAGCCAGGGCACCCCACGCT	0.647																																							uc003gij.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(2302-2304)GTG>GTT		limbin							51.0	48.0	49.0					4																	5624461		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5624461C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2304G>T	4.37:g.5624461C>A						EVC2_uc011bwb.1_Silent_p.V208V|EVC2_uc003gik.2_Silent_p.V688V	p.V768V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2358	-			768			Potential.		Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.2304G>T	CCDS3382.2																																																																																				0.647	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		10	37	1	0	0.000978159	0.000978	0.00105826	10	37				
MAN2B2	23324	broad.mit.edu	37	4	6578375	6578375	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:6578375G>T	ENST00000285599.3	+	2	245	c.209G>T	c.(208-210)cGc>cTc	p.R70L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627																																							uc003gjf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)CGC>CTC		mannosidase, alpha, class 2B, member 2							64.0	66.0	65.0					4																	6578375		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578375G>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.209G>T	4.37:g.6578375G>T	ENSP00000285599:p.Arg70Leu					MAN2B2_uc003gje.1_Missense_Mutation_p.R70L|MAN2B2_uc011bwf.1_Missense_Mutation_p.R70L	p.R70L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			2	245	+			70					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.209G>T	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.666086|2.666086	0.47677|0.47677	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.22336	.|1.96;1.96	3.89|3.89	2.14|2.14	0.27477|0.27477	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40015|0.40015	0.1100|0.1100	M|M	0.83312|0.83312	2.635|2.635	0.50632|0.50632	D|D	0.999883|0.999883	.|P;P;P	.|0.43392	.|0.805;0.587;0.738	.|P;B;B	.|0.55345	.|0.774;0.445;0.38	T|T	0.17319|0.17319	-1.0373|-1.0373	5|10	.|0.87932	.|D	.|0	.|.	8.6005|8.6005	0.33742|0.33742	0.1982:0.0:0.8018:0.0|0.1982:0.0:0.8018:0.0	.|.	.|70;70;70	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	S|L	69|70	.|ENSP00000285599:R70L;ENSP00000423129:R70L	.|ENSP00000285599:R70L	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6629276|6629276	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.088000|0.088000	0.18126|0.18126	4.429000|4.429000	0.59901|0.59901	0.135000|0.135000	0.18707|0.18707	-0.263000|-0.263000	0.10527|0.10527	GCC|CGC		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		13	70	1	0	3.27435e-08	0.00245	3.94915e-08	13	70				
LDB2	9079	broad.mit.edu	37	4	16513703	16513703	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:16513703G>C	ENST00000304523.5	-	6	963	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	LDB2_ENST00000502640.1_Missense_Mutation_p.Q214E|LDB2_ENST00000441778.2_Missense_Mutation_p.Q214E|LDB2_ENST00000515064.1_Missense_Mutation_p.Q214E|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_Missense_Mutation_p.Q90E	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	214					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.Q214K(2)|p.Q214E(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCAGTTCCTGCATTGGCTCC	0.438																																							uc003goz.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(640-642)CAG>GAG		LIM domain binding 2 isoform a							99.0	89.0	92.0					4																	16513703		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16513703G>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.640C>G	4.37:g.16513703G>C	ENSP00000306772:p.Gln214Glu					LDB2_uc003gpa.2_Missense_Mutation_p.Q214E|LDB2_uc003gpb.2_Missense_Mutation_p.Q214E|LDB2_uc011bxh.1_Missense_Mutation_p.Q186E|LDB2_uc010iee.2_Missense_Mutation_p.Q214E|LDB2_uc003goy.2_Missense_Mutation_p.Q90E|LDB2_uc011bxi.1_Missense_Mutation_p.Q90E	p.Q214E	NM_001290	NP_001281	O43679	LDB2_HUMAN			6	956	-			214					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.640C>G	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.206581|5.206581	0.95033|0.95033	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.84727|0.84727	0.5536|0.5536	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D;D	.|0.69078	.|0.995;0.843;0.997;0.963;0.979;0.983;0.979	.|D;P;D;P;P;D;D	.|0.83275	.|0.996;0.848;0.965;0.827;0.907;0.993;0.989	D|D	0.85433|0.85433	0.1150|0.1150	5|9	.|0.66056	.|D	.|0.02	-13.4551|-13.4551	19.632|19.632	0.95713|0.95713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|90;180;214;214;214;214;190	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	W|E	135|214;214;214;214;90	.|.	.|ENSP00000306772:Q214E	C|Q	-|-	3|1	2|0	LDB2|LDB2	16122801|16122801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	TGC|CAG		0.438	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			17	50	0	0	0	0.00499	0	17	50				
SLIT2	9353	broad.mit.edu	37	4	20530581	20530581	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:20530581A>G	ENST00000504154.1	+	16	1724	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	SLIT2_ENST00000503823.1_Missense_Mutation_p.D483G|SLIT2_ENST00000273739.5_Missense_Mutation_p.D495G|SLIT2_ENST00000503837.1_Missense_Mutation_p.D487G|MIR218-1_ENST00000384999.1_RNA	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	491					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D491G(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGTACAGAAGATTATCGATCA	0.353																																							uc003gpr.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1471-1473)GAT>GGT		slit homolog 2 precursor							93.0	97.0	96.0					4																	20530581		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530581A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1472A>G	4.37:g.20530581A>G	ENSP00000422591:p.Asp491Gly					SLIT2_uc003gps.1_Missense_Mutation_p.D483G	p.D491G	NM_004787	NP_004778	O94813	SLIT2_HUMAN			16	1676	+			491					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1472A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204617	0.58234	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;D;T;T	0.81739	-1.44;-1.53;-1.44;-1.41	5.93	5.93	0.95920	.	0.087502	0.85682	D	0.000000	D	0.88164	0.6363	M	0.66939	2.045	0.80722	D	1	D;P	0.69078	0.997;0.902	D;P	0.68943	0.961;0.647	D	0.87850	0.2657	10	0.45353	T	0.12	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	483;491	O94813-3;O94813	.;SLIT2_HUMAN	G	483;491;495;487;487	ENSP00000427548:D483G;ENSP00000422591:D491G;ENSP00000273739:D495G;ENSP00000422261:D487G	ENSP00000273739:D495G	D	+	2	0	SLIT2	20139679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.954000	0.93051	2.258000	0.74832	0.533000	0.62120	GAT		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			29	105	0	0	0	0.002836	0	29	105				
GPR125	166647	broad.mit.edu	37	4	22422577	22422577	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:22422577C>T	ENST00000334304.5	-	12	2010	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	GPR125_ENST00000508133.1_Missense_Mutation_p.G355R|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.G581R	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	581					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.G581R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCAGGTTTCCCTCTGGATCC	0.458																																							uc003gqm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1741-1743)GGA>AGA		G protein-coupled receptor 125 precursor							207.0	212.0	211.0					4																	22422577		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422577C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1741G>A	4.37:g.22422577C>T	ENSP00000334952:p.Gly581Arg					GPR125_uc010ieo.1_Missense_Mutation_p.G455R|GPR125_uc003gqn.1_Missense_Mutation_p.G355R|GPR125_uc003gqo.2_Missense_Mutation_p.G581R	p.G581R	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			12	2006	-		Breast(46;0.198)	581			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1741G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076996	0.55753	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.55760	0.69;0.5	5.1	5.1	0.69264	.	0.061559	0.64402	D	0.000004	T	0.66228	0.2768	L	0.40543	1.245	0.58432	D	0.999997	B;P;D;D	0.89917	0.139;0.939;1.0;1.0	B;P;D;D	0.91635	0.113;0.617;0.998;0.999	T	0.66420	-0.5928	10	0.49607	T	0.09	-22.3423	18.8818	0.92358	0.0:1.0:0.0:0.0	.	456;581;355;581	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	R	581;355;581	ENSP00000334952:G581R;ENSP00000421006:G581R	ENSP00000334952:G581R	G	-	1	0	GPR125	22031675	0.997000	0.39634	0.365000	0.25901	0.484000	0.33280	3.144000	0.50616	2.515000	0.84797	0.655000	0.94253	GGA		0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			165	316	0	0	0	0.00361	0	165	316				
LGI2	55203	broad.mit.edu	37	4	25005746	25005746	+	Missense_Mutation	SNP	C	C	T	rs149130054		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:25005746C>T	ENST00000382114.4	-	8	1150	c.965G>A	c.(964-966)cGc>cAc	p.R322H		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	322						extracellular region (GO:0005576)		p.R322H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTTGGAAATGCGAGAGACCTC	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20834	0.0		0.0	False		,,,				2504	0.0						uc003grf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(964-966)CGC>CAC		leucine-rich repeat LGI family, member 2		C	HIS/ARG	0,4406		0,0,2203	165.0	168.0	167.0		965	5.6	1.0	4	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGI2	NM_018176.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	322/546	25005746	1,13005	2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005746C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.965G>A	4.37:g.25005746C>T	ENSP00000371548:p.Arg322His						p.R322H	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1064	-		Breast(46;0.173)	322			EAR 3.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.965G>A	CCDS3431.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.0	4.592057	0.86953	0.0	1.16E-4	ENSG00000153012	ENST00000382114	T	0.14144	2.53	5.55	5.55	0.83447	.	0.103799	0.64402	D	0.000003	T	0.21921	0.0528	L	0.34521	1.04	0.48395	D	0.999649	D	0.63880	0.993	P	0.58130	0.833	T	0.00152	-1.1984	10	0.62326	D	0.03	-24.8924	13.1336	0.59397	0.0:0.9267:0.0:0.0733	.	322	Q8N0V4	LGI2_HUMAN	H	322	ENSP00000371548:R322H	ENSP00000371548:R322H	R	-	2	0	LGI2	24614844	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.894000	0.69806	2.767000	0.95098	0.557000	0.71058	CGC		0.468	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			5	172	0	0	0	0.000602	0	5	172				
TLR1	7096	broad.mit.edu	37	4	38798855	38798855	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:38798855C>G	ENST00000502213.2	-	3	1827	c.1598G>C	c.(1597-1599)gGa>gCa	p.G533A	TLR1_ENST00000308979.2_Missense_Mutation_p.G533A|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	533	LRRCT.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G533A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GACAAATTCTCCTAGCTCACA	0.433																																					GBM(5;216 373 40795 46382)	GBM(5;216 373 40795 46382)	uc003gtl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(1597-1599)GGA>GCA		toll-like receptor 1 precursor							268.0	273.0	272.0					4																	38798855		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798855C>G	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1598G>C	4.37:g.38798855C>G	ENSP00000421259:p.Gly533Ala						p.G533A	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	1872	-			533			Extracellular (Potential).|LRRCT.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1598G>C	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622792	0.28889	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.18016	2.24;2.24	4.75	4.75	0.60458	Cysteine-rich flanking region, C-terminal (1);	0.086517	0.47093	D	0.000245	T	0.08537	0.0212	N	0.03608	-0.345	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	10	0.87932	D	0	.	12.2017	0.54331	0.0:0.9102:0.0:0.0898	.	533	Q15399	TLR1_HUMAN	A	533	ENSP00000354932:G533A;ENSP00000421259:G533A	ENSP00000354932:G533A	G	-	2	0	TLR1	38475250	0.038000	0.19896	0.996000	0.52242	0.619000	0.37552	0.923000	0.28757	2.636000	0.89361	0.650000	0.86243	GGA		0.433	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			5	418	0	0	0	0.001984	0	5	418				
RFC1	5981	broad.mit.edu	37	4	39310388	39310388	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:39310388G>C	ENST00000381897.1	-	13	1886	c.1753C>G	c.(1753-1755)Ctc>Gtc	p.L585V	RFC1_ENST00000349703.2_Missense_Mutation_p.L585V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	585					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.L585V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACCCAGAGCAAATTTTCC	0.488																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1753-1755)CTC>GTC		replication factor C large subunit							196.0	206.0	203.0					4																	39310388		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310388G>C	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1753C>G	4.37:g.39310388G>C	ENSP00000371321:p.Leu585Val					RFC1_uc003gtx.1_Missense_Mutation_p.L585V	p.L585V	NM_002913	NP_002904	P35251	RFC1_HUMAN			13	1887	-			585					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1753C>G	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392023	0.62066	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.19250	2.16;2.16	5.91	5.91	0.95273	.	0.143126	0.48767	D	0.000174	T	0.52322	0.1727	M	0.88310	2.945	0.58432	D	0.999994	D;D	0.89917	0.987;1.0	P;D	0.91635	0.837;0.999	T	0.56872	-0.7907	10	0.56958	D	0.05	-7.9822	13.4958	0.61426	0.071:0.0:0.929:0.0	.	585;585	P35251;P35251-2	RFC1_HUMAN;.	V	585	ENSP00000371321:L585V;ENSP00000261424:L585V	ENSP00000261424:L585V	L	-	1	0	RFC1	38986783	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.162000	0.64942	2.808000	0.96608	0.655000	0.94253	CTC		0.488	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		4	270	0	0	0	0.009096	0	4	270				
BEND4	389206	broad.mit.edu	37	4	42145827	42145827	+	Missense_Mutation	SNP	C	C	G	rs139053577		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:42145827C>G	ENST00000502486.1	-	3	1251	c.672G>C	c.(670-672)caG>caC	p.Q224H	BEND4_ENST00000504360.1_Missense_Mutation_p.Q220H	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	224								p.Q220H(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTCTGAGGTCTGACTGTGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		23202	0.0		0.001	False		,,,				2504	0.0						uc003gwn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(670-672)CAG>CAC		BEN domain containing 4 isoform a		C	HIS/GLN,HIS/GLN	0,3858		0,0,1929	110.0	111.0	111.0		672,672	4.7	1.0	4	dbSNP_134	111	1,8291		0,1,4145	no	missense,missense	BEND4	NM_001159547.1,NM_207406.3	24,24	0,1,6074	GG,GC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	224/442,224/535	42145827	1,12149	1929	4146	6075	SO:0001583	missense	389206							g.chr4:42145827C>G	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.672G>C	4.37:g.42145827C>G	ENSP00000421169:p.Gln224His					BEND4_uc003gwm.2_Missense_Mutation_p.Q224H|BEND4_uc011byy.1_Missense_Mutation_p.Q224H	p.Q224H	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1252	-			224					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.672G>C	CCDS47048.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.33	2.800858	0.50315	0.0	1.21E-4	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	4.68	0.58851	.	0.496413	0.21998	N	0.066049	T	0.39809	0.1092	N	0.14661	0.345	0.48341	D	0.999634	B;B;B	0.23990	0.095;0.057;0.095	B;B;B	0.21360	0.034;0.015;0.034	T	0.32877	-0.9890	9	0.72032	D	0.01	-10.562	10.4023	0.44237	0.0:0.8513:0.0:0.1487	.	146;224;224	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	H	95;224;220	.	ENSP00000412495:Q95H	Q	-	3	2	BEND4	41840584	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.581000	0.36558	1.335000	0.45486	0.655000	0.94253	CAG		0.438	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		8	47	0	0	0	0.00308	0	8	47				
GABRB1	2560	broad.mit.edu	37	4	47163293	47163293	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:47163293C>A	ENST00000295454.3	+	4	560	c.268C>A	c.(268-270)Cag>Aag	p.Q90K	GABRB1_ENST00000538619.1_Missense_Mutation_p.Q20K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	90					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.Q90K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	GTATTTCCAGCAGTCTTGGAA	0.363																																							uc003gxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(268-270)CAG>AAG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						79.0	82.0	81.0					4																	47163293		2203	4298	6501	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163293C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.268C>A	4.37:g.47163293C>A	ENSP00000295454:p.Gln90Lys					GABRB1_uc011bze.1_Missense_Mutation_p.Q20K	p.Q90K	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	642	+			90			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.268C>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924588	0.92319	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.79653	-1.29;-1.29;-1.29	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.93324	0.7872	H	0.96833	3.89	0.58432	D	0.999999	D;D	0.89917	1.0;0.963	D;D	0.97110	1.0;0.973	D	0.95354	0.8449	10	0.87932	D	0	-13.0383	17.4825	0.87677	0.0:1.0:0.0:0.0	.	20;90	F5GXV5;P18505	.;GBRB1_HUMAN	K	57;90;20	ENSP00000426753:Q57K;ENSP00000295454:Q90K;ENSP00000440330:Q20K	ENSP00000295454:Q90K	Q	+	1	0	GABRB1	46858050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.611000	0.88343	0.650000	0.86243	CAG		0.363	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			26	98	1	0	4.26978e-12	0.00333	5.6073e-12	26	98				
NIPAL1	152519	broad.mit.edu	37	4	48037822	48037822	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:48037822C>A	ENST00000295461.5	+	6	932	c.866C>A	c.(865-867)aCa>aAa	p.T289K		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	289						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.T289K(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCAGTAACTACACAGATTAAC	0.423																																							uc003gxw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(865-867)ACA>AAA		NIPA-like domain containing 1							118.0	101.0	107.0					4																	48037822		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48037822C>A	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.866C>A	4.37:g.48037822C>A	ENSP00000295461:p.Thr289Lys						p.T289K	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			6	932	+			289			Helical; (Potential).		B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.866C>A	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915748	0.73098	.	.	ENSG00000163293	ENST00000295461	D	0.90788	-2.73	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.94423	3.535	0.48395	D	0.999649	D	0.89917	1.0	D	0.81914	0.995	D	0.97569	1.0103	9	.	.	.	-13.2136	19.7003	0.96050	0.0:1.0:0.0:0.0	.	289	Q6NVV3	NIPA3_HUMAN	K	289	ENSP00000295461:T289K	.	T	+	2	0	NIPAL1	47732579	0.997000	0.39634	0.960000	0.40013	0.672000	0.39443	2.459000	0.45023	2.657000	0.90304	0.655000	0.94253	ACA		0.423	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		18	53	1	0	1.99824e-07	0.00499	2.3707e-07	18	53				
TEC	7006	broad.mit.edu	37	4	48152932	48152932	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:48152932C>T	ENST00000381501.3	-	10	977	c.820G>A	c.(820-822)Gat>Aat	p.D274N	TEC_ENST00000511471.2_5'UTR|Y_RNA_ENST00000365144.1_RNA	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	274	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.D274N(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGACTGGAATCCCTTACCATA	0.333																																							uc003gxz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(820-822)GAT>AAT		tec protein tyrosine kinase							93.0	103.0	100.0					4																	48152932		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48152932C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.820G>A	4.37:g.48152932C>T	ENSP00000370912:p.Asp274Asn						p.D274N	NM_003215	NP_003206	P42680	TEC_HUMAN			10	911	-			274			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.820G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550742	0.45383	.	.	ENSG00000135605	ENST00000381501	D	0.88975	-2.45	5.65	5.65	0.86999	SH2 motif (5);	0.203163	0.43919	D	0.000504	D	0.83408	0.5248	L	0.45352	1.415	0.52099	D	0.99994	B	0.14805	0.011	B	0.18561	0.022	T	0.76482	-0.2943	10	0.11485	T	0.65	.	12.99	0.58614	0.0:0.9262:0.0:0.0738	.	274	P42680	TEC_HUMAN	N	274	ENSP00000370912:D274N	ENSP00000370912:D274N	D	-	1	0	TEC	47847689	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.797000	0.55514	2.662000	0.90505	0.491000	0.48974	GAT		0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			34	125	0	0	0	0.004878	0	34	125				
TMPRSS11A	339967	broad.mit.edu	37	4	68788579	68788579	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:68788579C>T	ENST00000334830.7	-	7	1341	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.A195T|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.A196T			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A199T(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGCCAGGCCGCCTTGGGTGCA	0.448																																					NSCLC(26;2 894 10941 14480 22546)	NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1		NA																	1	Substitution - Missense(1)	p.A199V(1)	lung(1)	skin(1)	1						c.(595-597)GCG>ACG		transmembrane protease, serine 11A isoform 1							141.0	125.0	131.0					4																	68788579		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68788579C>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.595G>A	4.37:g.68788579C>T	ENSP00000334611:p.Ala199Thr					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.A196T	p.A199T	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			7	716	-			199			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.595G>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977339	0.53720	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.72	1.45	0.22620	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.717790	0.12488	N	0.464490	T	0.82125	0.4969	N	0.08118	0	0.21184	N	0.999763	P;P	0.34462	0.454;0.454	B;B	0.34931	0.192;0.192	T	0.74850	-0.3524	10	0.87932	D	0	.	8.5545	0.33471	0.3878:0.5335:0.0:0.0788	.	196;199	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	T	195;199;196;163	ENSP00000426911:A195T;ENSP00000334611:A199T;ENSP00000379491:A196T;ENSP00000427621:A163T	ENSP00000334611:A199T	A	-	1	0	TMPRSS11A	68471174	0.014000	0.17966	0.987000	0.45799	0.839000	0.47603	1.303000	0.33470	0.695000	0.31675	0.655000	0.94253	GCG		0.448	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		17	37	0	0	0	0.004007	0	17	37				
AFF1	4299	broad.mit.edu	37	4	88029353	88029353	+	Silent	SNP	C	C	T	rs146991025	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:88029353C>T	ENST00000307808.6	+	10	1818	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	AFF1_ENST00000395146.4_Silent_p.S473S|AFF1_ENST00000544085.1_Silent_p.S104S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	466					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S473S(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAGCACATTCCAGCAGTGCAG	0.473																																							uc003hqj.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1396-1398)TCC>TCT		myeloid/lymphoid or mixed-lineage leukemia							116.0	104.0	108.0					4																	88029353		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029353C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1398C>T	4.37:g.88029353C>T						AFF1_uc011ccz.1_Silent_p.S473S|AFF1_uc003hqk.3_Silent_p.S466S|AFF1_uc011cda.1_Silent_p.S104S	p.S466S	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1805	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	466					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.1398C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468258	0.26335	.	.	ENSG00000172493	ENST00000541943	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.76842	0.4044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75566	-0.3273	5	0.45353	T	0.12	-6.0903	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	L	126	.	ENSP00000446349:P126L	P	+	2	0	AFF1	88248377	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.836000	0.55813	2.735000	0.93741	0.655000	0.94253	CCA		0.473	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		28	34	0	0	0	0.00632	0	28	34				
METAP1	23173	broad.mit.edu	37	4	99962203	99962203	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:99962203G>A	ENST00000296411.6	+	6	576	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	METAP1_ENST00000544031.1_Missense_Mutation_p.E98K	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	148					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.E148K(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GCTTGCTAGAGAAGTTTTGGA	0.353																																							uc003huf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GAA>AAA		methionyl aminopeptidase 1							93.0	90.0	91.0					4																	99962203		1838	4090	5928	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99962203G>A	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.442G>A	4.37:g.99962203G>A	ENSP00000296411:p.Glu148Lys					METAP1_uc003hug.2_RNA	p.E148K	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	6	559	+			148					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.442G>A	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254926	0.80135	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	T;T	0.76578	-1.03;-1.03	4.7	4.7	0.59300	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.71581	2.175	0.80722	D	1	P	0.38048	0.616	P	0.46339	0.513	T	0.81540	-0.0886	9	.	.	.	-13.0858	18.2175	0.89890	0.0:0.0:1.0:0.0	.	148	P53582	AMPM1_HUMAN	K	148;98	ENSP00000296411:E148K;ENSP00000440993:E98K	.	E	+	1	0	METAP1	100181226	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.814000	0.91968	2.601000	0.87937	0.585000	0.79938	GAA		0.353	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		7	15	0	0	0	0.00308	0	7	15				
EGF	1950	broad.mit.edu	37	4	110925712	110925712	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:110925712C>G	ENST00000265171.5	+	22	3670	c.3225C>G	c.(3223-3225)agC>agG	p.S1075R	EGF_ENST00000509793.1_Missense_Mutation_p.S1033R|EGF_ENST00000503392.1_Missense_Mutation_p.S1034R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1075					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S1075R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGAGTCGAGCAGAGATGTGA	0.453																																							uc003hzy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3223-3225)AGC>AGG		epidermal growth factor precursor	Sulindac(DB00605)						121.0	116.0	118.0					4																	110925712		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110925712C>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3225C>G	4.37:g.110925712C>G	ENSP00000265171:p.Ser1075Arg					EGF_uc011cfu.1_Missense_Mutation_p.S1033R|EGF_uc011cfv.1_Missense_Mutation_p.S1034R|EGF_uc010imk.2_Missense_Mutation_p.S223R	p.S1075R	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	22	3677	+		Hepatocellular(203;0.0893)	1075			Cytoplasmic (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3225C>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172138	0.21704	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88046	-2.33;-2.25;-1.96	4.08	3.24	0.37175	.	0.651197	0.14513	N	0.315015	T	0.79975	0.4539	L	0.32530	0.975	0.09310	N	1	P;P;P	0.40834	0.61;0.73;0.61	B;B;B	0.40009	0.168;0.316;0.168	T	0.69767	-0.5056	10	0.46703	T	0.11	.	7.8015	0.29176	0.0:0.8847:0.0:0.1153	.	1034;1033;1075	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	R	1033;1075;1034	ENSP00000424316:S1033R;ENSP00000265171:S1075R;ENSP00000421384:S1034R	ENSP00000265171:S1075R	S	+	3	2	EGF	111145161	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.100000	0.10990	1.052000	0.40392	0.650000	0.86243	AGC		0.453	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			38	55	0	0	0	0.004289	0	38	55				
SYNPO2	171024	broad.mit.edu	37	4	119944675	119944675	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:119944675T>A	ENST00000429713.2	+	2	378	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y66N|SYNPO2_ENST00000448416.2_Missense_Mutation_p.Y66N|SYNPO2_ENST00000307142.4_Missense_Mutation_p.Y66N	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	66	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.Y66N(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATCTCACCTACCCTGAAGT	0.453																																							uc003icm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(196-198)TAC>AAC		synaptopodin 2 isoform b							161.0	136.0	144.0					4																	119944675		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119944675T>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.196T>A	4.37:g.119944675T>A	ENSP00000395143:p.Tyr66Asn					SYNPO2_uc010ina.2_Missense_Mutation_p.Y66N|SYNPO2_uc010inb.2_Missense_Mutation_p.Y66N|SYNPO2_uc011cgh.1_Missense_Mutation_p.Y66N|SYNPO2_uc010inc.2_5'UTR	p.Y66N	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			2	392	+			66			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.196T>A	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.61|18.61	3.661504|3.661504	0.67700|0.67700	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	.|T;T;T;T	.|0.26067	.|1.76;1.76;1.76;1.76	5.66|5.66	4.47|4.47	0.54385|0.54385	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.11064|0.11064	0.09|0.09	0.40857|0.40857	D|D	0.983809|0.983809	.|P;P;P;P	.|0.47106	.|0.89;0.61;0.82;0.82	.|P;P;P;P	.|0.51487	.|0.671;0.598;0.577;0.577	T|T	0.08911|0.08911	-1.0699|-1.0699	5|10	.|0.66056	.|D	.|0.02	-8.3308|-8.3308	10.4652|10.4652	0.44602|0.44602	0.0:0.0741:0.0:0.9259|0.0:0.0741:0.0:0.9259	.|.	.|66;66;66;66	.|B4E258;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	Q|N	17|66	.|ENSP00000306015:Y66N;ENSP00000412623:Y66N;ENSP00000395143:Y66N;ENSP00000390965:Y66N	.|ENSP00000306015:Y66N	L|Y	+|+	2|1	0|0	SYNPO2|SYNPO2	120164123|120164123	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.971000|0.971000	0.66376|0.66376	3.548000|3.548000	0.53670|0.53670	0.959000|0.959000	0.37980|0.37980	0.528000|0.528000	0.53228|0.53228	CTA|TAC		0.453	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			29	34	0	0	0	0.009535	0	29	34				
RXFP1	59350	broad.mit.edu	37	4	159493974	159493974	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:159493974T>C	ENST00000307765.5	+	2	425	c.174T>C	c.(172-174)gaT>gaC	p.D58D	RXFP1_ENST00000343542.5_Silent_p.D58D|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000470033.1_Silent_p.D58D|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000423548.1_Silent_p.D58D	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	58	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.D58D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATCAGGCCGATGAGGACAACT	0.532																																							uc003ipz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)GAT>GAC		relaxin/insulin-like family peptide receptor 1							100.0	102.0	102.0					4																	159493974		2071	4215	6286	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159493974T>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.174T>C	4.37:g.159493974T>C						RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Silent_p.D58D|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Silent_p.D58D|RXFP1_uc010iqm.2_Silent_p.D58D|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	p.D58D	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	2	256	+	all_hematologic(180;0.24)	Renal(120;0.0854)	58			Extracellular (Potential).|LDL-receptor class A.	Calcium.	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.174T>C	CCDS43276.1																																																																																				0.532	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	52	0	0	0	0.000978	0	11	52				
GPM6A	2823	broad.mit.edu	37	4	176622818	176622818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:176622818G>T	ENST00000280187.7	-	3	183	c.138C>A	c.(136-138)tgC>tgA	p.C46*	GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C39*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C35*|GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C46*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	46					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.C46*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTCATGACCGCAGCCACAGA	0.493																																							uc003iuf.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(136-138)TGC>TGA		glycoprotein M6A isoform 2							144.0	135.0	138.0					4																	176622818		2203	4300	6503	SO:0001587	stop_gained	2823					cell surface|integral to membrane		g.chr4:176622818G>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.138C>A	4.37:g.176622818G>T	ENSP00000280187:p.Cys46*					GPM6A_uc011ckj.1_Nonsense_Mutation_p.C39*|GPM6A_uc003iug.2_Nonsense_Mutation_p.C46*|GPM6A_uc003iuh.2_Nonsense_Mutation_p.C35*	p.C46*	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	942	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	46			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Nonsense_Mutation	SNP	ENST00000280187.7	37	c.138C>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842779	0.51057	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	.	.	.	6.01	-11.9	0.00025	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2297	17.3448	0.87307	0.4528:0.0:0.5472:0.0	.	.	.	.	X	46;46;35;39;38;46;39	.	ENSP00000280187:C46X	C	-	3	2	GPM6A	176859812	0.158000	0.22850	0.254000	0.24359	0.966000	0.64601	-0.233000	0.09041	-2.340000	0.00625	-1.000000	0.02509	TGC		0.493	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			35	61	1	0	6.05902e-23	0.003755	9.01615e-23	35	61				
TENM3	55714	broad.mit.edu	37	4	183603130	183603130	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:183603130G>T	ENST00000511685.1	+	11	2121	c.1998G>T	c.(1996-1998)acG>acT	p.T666T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.T666T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	666	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T666T(1)									GCTCCTGCACGTGTGACCCTA	0.473																																							uc003ivd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1996-1998)ACG>ACT		odz, odd Oz/ten-m homolog 3							83.0	81.0	82.0					4																	183603130		1983	4144	6127	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183603130G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1998G>T	4.37:g.183603130G>T						ODZ3_uc003ive.1_Silent_p.T72T	p.T666T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	10	2035	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	666			EGF-like 5.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.1998G>T	CCDS47165.1																																																																																				0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			22	34	1	0	9.57634e-11	0.00333	1.22263e-10	22	34				
CYP4V2	285440	broad.mit.edu	37	4	187130045	187130045	+	Missense_Mutation	SNP	G	G	C	rs58584561		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:187130045G>C	ENST00000378802.4	+	9	1421	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	373					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.E373Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CGCTACAGTAGAAGACCTGAA	0.458																																							uc003iyw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GAA>CAA		cytochrome P450, family 4, subfamily v,							157.0	153.0	154.0					4																	187130045		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130045G>C	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1117G>C	4.37:g.187130045G>C	ENSP00000368079:p.Glu373Gln					CYP4V2_uc010ism.2_RNA	p.E373Q	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	9	1421	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	373					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1117G>C	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426777	0.43020	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.81247	-1.47	5.7	5.7	0.88788	.	0.100977	0.64402	D	0.000002	T	0.76586	0.4008	L	0.38692	1.165	0.80722	D	1	B	0.28026	0.198	B	0.32090	0.14	T	0.70970	-0.4727	10	0.30078	T	0.28	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	373	Q6ZWL3	CP4V2_HUMAN	Q	373;351	ENSP00000368079:E373Q	ENSP00000274118:E351Q	E	+	1	0	CYP4V2	187367039	1.000000	0.71417	0.970000	0.41538	0.445000	0.32107	9.685000	0.98661	2.698000	0.92095	0.655000	0.94253	GAA		0.458	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		39	77	0	0	0	0.005524	0	39	77				
SLC12A7	10723	broad.mit.edu	37	5	1085503	1085503	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:1085503T>A	ENST00000264930.5	-	7	804	c.761A>T	c.(760-762)tAc>tTc	p.Y254F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	254					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Y254F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCACGTGCCGTACACACGCAT	0.647																																							uc003jbu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(760-762)TAC>TTC		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						82.0	58.0	66.0					5																	1085503		2193	4299	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1085503T>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.761A>T	5.37:g.1085503T>A	ENSP00000264930:p.Tyr254Phe						p.Y254F	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		7	827	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		254			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.761A>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.126616	0.77549	.	.	ENSG00000113504	ENST00000264930	D	0.98747	-5.11	3.58	3.58	0.41010	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.74546	2.27	0.54753	D	0.999985	D	0.54207	0.965	D	0.65684	0.937	D	0.99177	1.0866	10	0.72032	D	0.01	.	11.3024	0.49314	0.0:0.0:0.0:1.0	.	254	Q9Y666	S12A7_HUMAN	F	254	ENSP00000264930:Y254F	ENSP00000264930:Y254F	Y	-	2	0	SLC12A7	1138503	1.000000	0.71417	0.720000	0.30636	0.799000	0.45148	7.195000	0.77798	1.414000	0.47017	0.449000	0.29647	TAC		0.647	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		4	24	0	0	0	0.009096	0	4	24				
IRX2	153572	broad.mit.edu	37	5	2749627	2749627	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:2749627T>A	ENST00000382611.6	-	2	772	c.524A>T	c.(523-525)gAg>gTg	p.E175V	C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.E175V|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	175					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E175V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CATCTTGTTCTCCTTCTTGAG	0.602																																							uc003jda.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)GAG>GTG		iroquois homeobox 2							136.0	129.0	131.0					5																	2749627		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749627T>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.524A>T	5.37:g.2749627T>A	ENSP00000372056:p.Glu175Val					C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.E175V	p.E175V	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	766	-			175			Homeobox; TALE-type.		Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.524A>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914258	0.92178	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83837	-1.77;-1.77;-1.77	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);	0.000000	0.85682	D	0.000000	D	0.90535	0.7034	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91877	0.5512	10	0.87932	D	0	-26.5771	14.441	0.67318	0.0:0.0:0.0:1.0	.	175	Q9BZI1	IRX2_HUMAN	V	175;175;82	ENSP00000372056:E175V;ENSP00000307006:E175V;ENSP00000426151:E82V	ENSP00000307006:E175V	E	-	2	0	IRX2	2802627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	1.817000	0.53016	0.533000	0.62120	GAG		0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			32	130	0	0	0	0.004289	0	32	130				
ADCY2	108	broad.mit.edu	37	5	7690890	7690890	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:7690890G>T	ENST00000338316.4	+	5	896	c.807G>T	c.(805-807)gcG>gcT	p.A269A	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Silent_p.A89A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	269					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.A269A(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						GCCCCAAGGCGGGCCAGATGG	0.582																																							uc003jdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(805-807)GCG>GCT		adenylate cyclase 2							90.0	83.0	85.0					5																	7690890		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.chr5:7690890G>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.807G>T	5.37:g.7690890G>T						ADCY2_uc011cmo.1_Silent_p.A89A	p.A269A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			5	874	+			269			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.807G>T	CCDS3872.2																																																																																				0.582	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		19	74	1	0	2.4624e-09	0.008871	3.06744e-09	19	74				
SEMA5A	9037	broad.mit.edu	37	5	9227044	9227044	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:9227044C>G	ENST00000382496.5	-	7	1034	c.369G>C	c.(367-369)gtG>gtC	p.V123V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	123	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.V123V(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTCGCCACCCACCAGAAGCA	0.393																																							uc003jek.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(367-369)GTG>GTC		semaphorin 5A precursor							64.0	66.0	65.0					5																	9227044		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9227044C>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.369G>C	5.37:g.9227044C>G							p.V123V	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			7	1081	-			123			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.369G>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173141	0.21704	.	.	ENSG00000112902	ENST00000514923	.	.	.	4.93	3.13	0.36017	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47209	-0.9135	4	.	.	.	.	6.6333	0.22869	0.1757:0.7309:0.0:0.0934	.	.	.	.	R	71	.	.	G	-	1	0	SEMA5A	9280044	0.707000	0.27866	0.892000	0.35008	0.995000	0.86356	-0.129000	0.10515	0.582000	0.29556	0.655000	0.94253	GGG		0.393	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			5	120	0	0	0	0.001168	0	5	120				
CTNND2	1501	broad.mit.edu	37	5	11732329	11732329	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:11732329C>A	ENST00000304623.8	-	2	282	c.93G>T	c.(91-93)ctG>ctT	p.L31L	CTNND2_ENST00000359640.2_Silent_p.L31L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	31					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)		p.L31L(1)		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						AGCCGGGGCTCAGGGAACTCG	0.502																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(91-93)CTG>CTT		catenin (cadherin-associated protein), delta 2							126.0	127.0	126.0					5																	11732329		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:11732329C>A	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.93G>T	5.37:g.11732329C>A						CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.L31L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	238	-			31					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.93G>T	CCDS3881.1																																																																																				0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		41	147	1	0	1.96642e-18	0.006999	2.82026e-18	41	147				
CDH10	1008	broad.mit.edu	37	5	24487955	24487955	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:24487955G>A	ENST00000264463.4	-	12	2691	c.2184C>T	c.(2182-2184)ccC>ccT	p.P728P	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	728					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P728P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTCGTAGGGGGGTGCGGTGG	0.453										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2182-2184)CCC>CCT		cadherin 10, type 2 preproprotein							105.0	109.0	107.0					5																	24487955		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487955G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2184C>T	5.37:g.24487955G>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.P728P	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2516	-			728			Cytoplasmic (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2184C>T	CCDS3892.1																																																																																				0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		14	211	0	0	0	0.00245	0	14	211				
CDH6	1004	broad.mit.edu	37	5	31294121	31294121	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:31294121G>T	ENST00000265071.2	+	3	546	c.281G>T	c.(280-282)gGa>gTa	p.G94V	CDH6_ENST00000514738.1_Missense_Mutation_p.G39V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	94	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G94V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCTTTCAGGAGATGGAGCA	0.393																																							uc003jhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(280-282)GGA>GTA		cadherin 6, type 2 preproprotein							77.0	80.0	79.0					5																	31294121		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31294121G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.281G>T	5.37:g.31294121G>T	ENSP00000265071:p.Gly94Val					CDH6_uc003jhd.1_Missense_Mutation_p.G94V	p.G94V	NM_004932	NP_004923	P55285	CADH6_HUMAN			3	607	+			94			Extracellular (Potential).|Cadherin 1.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.281G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647326	0.87958	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.63417	-0.04;-0.04	5.87	5.87	0.94306	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90368	0.4378	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	94;94	P55285;P55285-2	CADH6_HUMAN;.	V	39;94	ENSP00000424843:G39V;ENSP00000265071:G94V	ENSP00000265071:G94V	G	+	2	0	CDH6	31329878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GGA		0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		43	153	1	0	9.84934e-19	0.002522	1.41726e-18	43	153				
NPR3	4883	broad.mit.edu	37	5	32712584	32712584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:32712584C>A	ENST00000265074.8	+	1	1045	c.702C>A	c.(700-702)taC>taA	p.Y234*	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Nonsense_Mutation_p.Y234*	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	234					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)	p.Y234*(1)		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)	CGTCCATCTACAGTTTCGACG	0.607																																							uc003jhv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(700-702)TAC>TAA		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						96.0	107.0	103.0					5																	32712584		2036	4200	6236	SO:0001587	stop_gained	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.chr5:32712584C>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.702C>A	5.37:g.32712584C>A	ENSP00000265074:p.Tyr234*					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Nonsense_Mutation_p.Y234*	p.Y234*	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	920	+			234			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Nonsense_Mutation	SNP	ENST00000265074.8	37	c.702C>A	CCDS56357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.902430|7.902430	0.98551|0.98551	.|.	.|.	ENSG00000113389|ENSG00000113389	ENST00000507141|ENST00000265074;ENST00000415167	.|.	.|.	.|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.321295	.|0.34435	.|N	.|0.003962	T|.	0.43122|.	0.1233|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31888|.	-0.9927|.	4|.	.|0.02654	.|T	.|1	-12.2542|-12.2542	16.2444|16.2444	0.82434|0.82434	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	50|234	.|.	.|ENSP00000265074:Y234X	Q|Y	+|+	1|3	0|2	NPR3|NPR3	32748341|32748341	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	1.870000|1.870000	0.39529|0.39529	2.313000|2.313000	0.78055|0.78055	0.555000|0.555000	0.69702|0.69702	CAG|TAC		0.607	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		54	197	1	0	3.50607e-19	0.00361	5.05337e-19	54	197				
ADAMTS12	81792	broad.mit.edu	37	5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R846H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGTTTGGCGGCGGATACC	0.517										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2536-2538)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							120.0	110.0	113.0					5																	33596156		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596156C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2537G>A	5.37:g.33596156C>T	ENSP00000422554:p.Arg846His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R761H	p.R846H	NM_030955	NP_112217	P58397	ATS12_HUMAN			17	2700	-			846			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2537G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010730	0.75046	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52983	0.64;0.64	5.77	4.9	0.64082	.	0.196715	0.50627	D	0.000112	T	0.49541	0.1563	L	0.55990	1.75	0.80722	D	1	P;P	0.52577	0.463;0.954	B;P	0.48552	0.067;0.581	T	0.43442	-0.9391	10	0.16420	T	0.52	.	15.3406	0.74293	0.0:0.9327:0.0:0.0673	.	761;846	P58397-3;P58397	.;ATS12_HUMAN	H	846;761	ENSP00000422554:R846H;ENSP00000344847:R761H	ENSP00000344847:R761H	R	-	2	0	ADAMTS12	33631913	0.994000	0.37717	0.987000	0.45799	0.998000	0.95712	2.459000	0.45023	1.582000	0.49881	0.585000	0.79938	CGC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	178	0	0	0	0.001855	0	13	178				
PRLR	5618	broad.mit.edu	37	5	35065590	35065590	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:35065590C>G	ENST00000382002.5	-	10	1896	c.1470G>C	c.(1468-1470)acG>acC	p.T490T	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000310101.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	490					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)	p.T490T(1)		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)	GCAGCCAGGGCGTATCCTGGT	0.483																																							uc003jjm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1468-1470)ACG>ACC		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						92.0	101.0	98.0					5																	35065590		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:35065590C>G		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.1470G>C	5.37:g.35065590C>G						PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.T389T	p.T490T	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2000	-	all_lung(31;3.83e-05)		490			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1470G>C	CCDS3909.1																																																																																				0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			82	173	0	0	0	0.00361	0	82	173				
C9	735	broad.mit.edu	37	5	39341300	39341300	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:39341300A>G	ENST00000263408.4	-	4	519	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	142	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)		p.C142R(1)		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)			CTGTCTCTGCAGGGGGGACGG	0.463																																							uc003jlv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)TGC>CGC		complement component 9 precursor							113.0	112.0	112.0					5																	39341300		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.chr5:39341300A>G		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.424T>C	5.37:g.39341300A>G	ENSP00000263408:p.Cys142Arg						p.C142R	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	513	-	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)	142			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.424T>C	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829231	0.50845	.	.	ENSG00000113600	ENST00000263408	T	0.39997	1.05	5.52	5.52	0.82312	Membrane attack complex component/perforin (MACPF) domain (1);	0.097701	0.64402	D	0.000001	T	0.69061	0.3069	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75536	-0.3283	10	0.87932	D	0	-18.3615	14.6262	0.68624	1.0:0.0:0.0:0.0	.	142	P02748	CO9_HUMAN	R	142	ENSP00000263408:C142R	ENSP00000263408:C142R	C	-	1	0	C9	39377057	1.000000	0.71417	0.867000	0.34043	0.168000	0.22595	6.565000	0.73974	2.094000	0.63399	0.460000	0.39030	TGC		0.463	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			13	224	0	0	0	0.001368	0	13	224				
PLCXD3	345557	broad.mit.edu	37	5	41382476	41382476	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:41382476T>C	ENST00000377801.3	-	2	338	c.264A>G	c.(262-264)ctA>ctG	p.L88L	PLCXD3_ENST00000328457.3_Silent_p.L88L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	88	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.L88L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCCAGCTCCTAGCTGGCCAG	0.438																																							uc003jmm.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(262-264)CTA>CTG		phosphatidylinositol-specific phospholipase C, X							61.0	66.0	64.0					5																	41382476		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382476T>C		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.264A>G	5.37:g.41382476T>C							p.L88L	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	366	-			88			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.264A>G	CCDS34150.1																																																																																				0.438	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		13	134	0	0	0	0.00245	0	13	134				
FBXO4	26272	broad.mit.edu	37	5	41927303	41927303	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:41927303G>T	ENST00000281623.3	+	2	434	c.378G>T	c.(376-378)aaG>aaT	p.K126N	FBXO4_ENST00000296812.2_Missense_Mutation_p.K126N|FBXO4_ENST00000509134.1_Missense_Mutation_p.K126N	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	126					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.K126N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTAAAAAAGCCTATATCTG	0.343																																							uc003jmq.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(376-378)AAG>AAT		F-box only protein 4 isoform 1							127.0	130.0	129.0					5																	41927303		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927303G>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.378G>T	5.37:g.41927303G>T	ENSP00000281623:p.Lys126Asn					FBXO4_uc003jmp.2_Missense_Mutation_p.K126N|FBXO4_uc003jmr.2_Missense_Mutation_p.K126N	p.K126N	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	434	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	126					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.378G>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402674	0.25291	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.48201	0.82;0.82;0.82	5.41	-1.56	0.08532	F-box domain, Skp2-like (1);	0.394766	0.31010	N	0.008435	T	0.20740	0.0499	N	0.12182	0.205	0.32948	D	0.519284	B;B;B	0.14805	0.003;0.011;0.004	B;B;B	0.17433	0.008;0.003;0.018	T	0.02603	-1.1135	10	0.37606	T	0.19	-10.1118	2.0458	0.03560	0.2875:0.1405:0.4308:0.1413	.	126;126;126	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	N	126	ENSP00000296812:K126N;ENSP00000281623:K126N;ENSP00000421749:K126N	ENSP00000281623:K126N	K	+	3	2	FBXO4	41963060	0.497000	0.26067	0.994000	0.49952	0.734000	0.41952	-0.168000	0.09925	0.114000	0.18032	-0.290000	0.09829	AAG		0.343	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			32	171	1	0	2.09667e-21	0.003755	3.09356e-21	32	171				
GZMK	3003	broad.mit.edu	37	5	54326301	54326301	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:54326301A>T	ENST00000231009.2	+	3	322	c.252A>T	c.(250-252)gcA>gcT	p.A84A	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	84	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A84A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTTTAGGCGCACACTCTCTCT	0.413																																							uc003jpl.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)GCA>GCT		granzyme K precursor							139.0	133.0	135.0					5																	54326301		2203	4300	6503	SO:0001819	synonymous_variant	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54326301A>T	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.252A>T	5.37:g.54326301A>T							p.A84A	NM_002104	NP_002095	P49863	GRAK_HUMAN			3	296	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	84			Peptidase S1.		B2R563	Silent	SNP	ENST00000231009.2	37	c.252A>T	CCDS3964.1																																																																																				0.413	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		24	55	0	0	0	0.00278	0	24	55				
CD180	4064	broad.mit.edu	37	5	66479315	66479315	+	Silent	SNP	G	G	A	rs371692979		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:66479315G>A	ENST00000256447.4	-	3	1513	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	452					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L452L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGCAGTAAGTGAGATTCAGAA	0.453																																							uc003juy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1354-1356)CTC>CTT		CD180 molecule precursor							153.0	160.0	157.0					5																	66479315		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479315G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1356C>T	5.37:g.66479315G>A							p.L452L	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1504	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	452			Extracellular (Potential).|LRR 15.		B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.1356C>T	CCDS3992.1																																																																																				0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		8	159	0	0	0	0.006214	0	8	159				
F2R	2149	broad.mit.edu	37	5	76029252	76029252	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:76029252G>T	ENST00000319211.4	+	2	1467	c.1202G>T	c.(1201-1203)gGg>gTg	p.G401V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	401					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.G401V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACAGCAGTGGGCAGTTGATG	0.428																																							uc003ken.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1201-1203)GGG>GTG		coagulation factor II receptor precursor	Streptokinase(DB00086)						89.0	94.0	92.0					5																	76029252		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76029252G>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1202G>T	5.37:g.76029252G>T	ENSP00000321326:p.Gly401Val						p.G401V	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1467	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	401			Cytoplasmic (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.1202G>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443364	0.25987	.	.	ENSG00000181104	ENST00000319211	T	0.76448	-1.02	4.79	3.89	0.44902	.	0.493528	0.22625	N	0.057648	D	0.82678	0.5089	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78640	-0.2125	10	0.15952	T	0.53	-22.8911	9.7795	0.40640	0.0771:0.1425:0.7804:0.0	.	401	P25116	PAR1_HUMAN	V	401	ENSP00000321326:G401V	ENSP00000321326:G401V	G	+	2	0	F2R	76065008	0.986000	0.35501	0.702000	0.30337	0.094000	0.18550	1.954000	0.40362	1.321000	0.45227	0.462000	0.41574	GGG		0.428	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			30	49	1	0	1.62565e-12	0.002445	2.15108e-12	30	49				
JMY	133746	broad.mit.edu	37	5	78612080	78612080	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:78612080G>C	ENST00000396137.4	+	10	3379	c.2917G>C	c.(2917-2919)Gag>Cag	p.E973Q	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	973					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E973Q(1)|p.E619Q(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGCATCCCCAGAGTCAGAGGA	0.433																																							uc003kfx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2917-2919)GAG>CAG		junction-mediating and regulatory protein							43.0	41.0	41.0					5																	78612080		1901	4107	6008	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78612080G>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2917G>C	5.37:g.78612080G>C	ENSP00000379441:p.Glu973Gln						p.E973Q	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	10	3437	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	973					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2917G>C	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023968	0.93462	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.37584	1.19	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63102	-0.6712	10	0.72032	D	0.01	.	19.4338	0.94783	0.0:0.0:1.0:0.0	.	973	Q8N9B5	JMY_HUMAN	Q	962;973	ENSP00000379441:E973Q	ENSP00000282259:E962Q	E	+	1	0	JMY	78647836	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	9.199000	0.95003	2.603000	0.88011	0.551000	0.68910	GAG		0.433	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		4	9	0	0	0	0.009096	0	4	9				
CMYA5	202333	broad.mit.edu	37	5	79031289	79031289	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:79031289C>G	ENST00000446378.2	+	2	6732	c.6701C>G	c.(6700-6702)gCt>gGt	p.A2234G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2234					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A2234G(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAACCAGCTGATCATTCA	0.388																																							uc003kgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(6700-6702)GCT>GGT		cardiomyopathy associated 5							116.0	114.0	115.0					5																	79031289		1837	4091	5928	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031289C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6701C>G	5.37:g.79031289C>G	ENSP00000394770:p.Ala2234Gly						p.A2234G	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6773	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2234					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6701C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	3.669	-0.067941	0.07228	.	.	ENSG00000164309	ENST00000446378	T	0.19669	2.13	5.75	-1.97	0.07503	.	1.031390	0.07699	N	0.940091	T	0.15003	0.0362	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.38735	-0.9647	10	0.34782	T	0.22	.	0.4099	0.00439	0.2714:0.3057:0.1339:0.289	.	2234	Q8N3K9	CMYA5_HUMAN	G	2234	ENSP00000394770:A2234G	ENSP00000394770:A2234G	A	+	2	0	CMYA5	79067045	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.531000	0.02219	-0.195000	0.10382	-0.142000	0.14014	GCT		0.388	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		34	128	0	0	0	0.002836	0	34	128				
HNRNPA1P12	644037	broad.mit.edu	37	5	79655242	79655242	+	IGR	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:79655242C>T								SPZ1 (37581 upstream) : RNU6-211P (6302 downstream)																							accacctccacgaccaccacc	0.517																																							uc003kgo.2		NA																	0					NA						c.(502-504)CGT>CAT		SubName: Full=Putative uncharacterized protein; Flags: Fragment;																																				SO:0001628	intergenic_variant	0							g.chr5:79655242C>T																													5.37:g.79655242C>T							p.R168H							1	666	-									Missense_Mutation	SNP		37	c.503G>A																																																																																				0	0.517									5	52	0	0	0	0.000602	0	5	52				
ANKRD34B	340120	broad.mit.edu	37	5	79855521	79855521	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:79855521C>A	ENST00000338682.3	-	5	990	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	106						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K106N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGCCCCACTCTTGAGGAGCA	0.448																																							uc010jam.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(316-318)AAG>AAT		ankyrin repeat domain 34B							135.0	133.0	134.0					5																	79855521		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855521C>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.318G>T	5.37:g.79855521C>A	ENSP00000339802:p.Lys106Asn					ANKRD34B_uc003kgw.2_Missense_Mutation_p.K106N|ANKRD34B_uc010jan.2_Missense_Mutation_p.K106N	p.K106N	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	668	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	106			ANK 3.		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.318G>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132211	0.21041	.	.	ENSG00000189127	ENST00000338682	T	0.64618	-0.11	6.03	1.59	0.23543	Ankyrin repeat-containing domain (4);	0.450310	0.21140	U	0.079489	T	0.40570	0.1122	N	0.17838	0.53	0.22280	N	0.999238	B	0.06786	0.001	B	0.08055	0.003	T	0.22312	-1.0220	10	0.45353	T	0.12	-1.5101	5.1418	0.14963	0.1301:0.399:0.383:0.0879	.	106	A5PLL1	AN34B_HUMAN	N	106	ENSP00000339802:K106N	ENSP00000339802:K106N	K	-	3	2	ANKRD34B	79891277	0.013000	0.17824	0.116000	0.21606	0.937000	0.57800	0.155000	0.16362	0.385000	0.24970	0.655000	0.94253	AAG		0.448	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		46	75	1	0	3.05275e-18	0.003214	4.37109e-18	46	75				
TTC37	9652	broad.mit.edu	37	5	94839593	94839593	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:94839593G>A	ENST00000358746.2	-	31	3440	c.3142C>T	c.(3142-3144)Ctt>Ttt	p.L1048F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1048						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L1048F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AACACTTCAAGGGGTGTTGAC	0.363																																							uc003klb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3142-3144)CTT>TTT		tetratricopeptide repeat domain 37							113.0	113.0	113.0					5																	94839593		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94839593G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3142C>T	5.37:g.94839593G>A	ENSP00000351596:p.Leu1048Phe						p.L1048F	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			31	3412	-			1048			TPR 17.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3142C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275421	0.80580	.	.	ENSG00000198677	ENST00000358746	T	0.71817	-0.6	5.84	5.84	0.93424	.	0.060946	0.64402	D	0.000002	T	0.78298	0.4261	M	0.75447	2.3	0.52501	D	0.999953	D	0.53151	0.958	P	0.51582	0.674	T	0.79619	-0.1728	10	0.56958	D	0.05	.	15.2642	0.73649	0.0:0.0:0.8597:0.1402	.	1048	Q6PGP7	TTC37_HUMAN	F	1048	ENSP00000351596:L1048F	ENSP00000351596:L1048F	L	-	1	0	TTC37	94865349	1.000000	0.71417	0.881000	0.34555	0.967000	0.64934	5.181000	0.65054	2.927000	0.99377	0.637000	0.83480	CTT		0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		18	42	0	0	0	0.008871	0	18	42				
MAN2A1	4124	broad.mit.edu	37	5	109051926	109051926	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:109051926C>T	ENST00000261483.4	+	3	1548	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	166					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.L166F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CACTGAACCCCTTCAAGTCTT	0.388																																							uc003kou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(496-498)CTT>TTT		mannosidase, alpha, class 2A, member 1							127.0	127.0	127.0					5																	109051926		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109051926C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.496C>T	5.37:g.109051926C>T	ENSP00000261483:p.Leu166Phe						p.L166F	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	3	1459	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	166			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.496C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457201	0.96223	.	.	ENSG00000112893	ENST00000261483	T	0.26518	1.73	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (1);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62397	-0.6863	10	0.87932	D	0	-27.4467	20.6397	0.99537	0.0:1.0:0.0:0.0	.	166	Q16706	MA2A1_HUMAN	F	166	ENSP00000261483:L166F	ENSP00000261483:L166F	L	+	1	0	MAN2A1	109079825	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.880000	0.98712	0.650000	0.86243	CTT		0.388	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			33	49	0	0	0	0.002445	0	33	49				
EPB41L4A	64097	broad.mit.edu	37	5	111531407	111531407	+	Splice_Site	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:111531407T>C	ENST00000261486.5	-	16	1653		c.e16-2		CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_Splice_Site	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.?(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGGGCTTTCCTGTGAAAACAA	0.368																																							uc003kpv.1		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e16-1		erythrocyte protein band 4.1-like 4							103.0	93.0	96.0					5																	111531407		1832	4088	5920	SO:0001630	splice_region_variant	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111531407T>C	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1377-2A>G	5.37:g.111531407T>C						EPB41L4A_uc003kpp.1_Splice_Site_p.R86_splice	p.R459_splice	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	16	1651	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)						A4FUI6	Splice_Site	SNP	ENST00000261486.5	37	c.1377_splice	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288795	0.40494	.	.	ENSG00000129595	ENST00000261486	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9901	0.47545	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L4A	111559306	0.997000	0.39634	0.925000	0.36789	0.607000	0.37147	3.941000	0.56607	2.165000	0.68154	0.482000	0.46254	.		0.368	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Intron	12	22	0	0	0	0.000978	0	12	22				
PRR16	51334	broad.mit.edu	37	5	120022181	120022181	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:120022181T>C	ENST00000407149.2	+	2	901	c.692T>C	c.(691-693)gTc>gCc	p.V231A	PRR16_ENST00000379551.2_Missense_Mutation_p.V208A|PRR16_ENST00000446965.1_Missense_Mutation_p.V161A|PRR16_ENST00000505123.1_Missense_Mutation_p.V161A			Q569H4	LARGN_HUMAN	proline rich 16	231	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.V208A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACAGGGAGGTCCACTTACAC	0.507																																							uc003ksq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(691-693)GTC>GCC		proline rich 16							78.0	77.0	77.0					5																	120022181		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022181T>C	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.692T>C	5.37:g.120022181T>C	ENSP00000385118:p.Val231Ala					PRR16_uc003ksp.2_Missense_Mutation_p.V208A|PRR16_uc003ksr.2_Missense_Mutation_p.V161A	p.V231A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	855	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	231			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.692T>C		.	.	.	.	.	.	.	.	.	.	T	7.158	0.585051	0.13749	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.26	5.26	0.73747	.	0.260130	0.33127	N	0.005255	T	0.38852	0.1056	L	0.51422	1.61	0.36271	D	0.855165	P;B	0.41131	0.739;0.287	B;B	0.39119	0.291;0.164	T	0.49360	-0.8948	9	.	.	.	0.148	14.2183	0.65807	0.0:0.0:0.0:1.0	.	231;208	Q569H4;Q569H4-3	PRR16_HUMAN;.	A	231;208;161;161	ENSP00000385118:V231A;ENSP00000368869:V208A;ENSP00000423446:V161A;ENSP00000405491:V161A	.	V	+	2	0	PRR16	120050080	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	3.857000	0.55972	1.992000	0.58205	0.529000	0.55759	GTC		0.507	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		13	35	0	0	0	0.001855	0	13	35				
PCDHB4	56131	broad.mit.edu	37	5	140503842	140503842	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140503842G>A	ENST00000194152.1	+	1	2262	c.2262G>A	c.(2260-2262)ctG>ctA	p.L754L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	754					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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L754L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTCTGACAGGAGACT	0.572																																							uc003lip.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2260-2262)CTG>CTA		protocadherin beta 4 precursor							93.0	102.0	99.0					5																	140503842		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503842G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2262G>A	5.37:g.140503842G>A							p.L754L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2262	+			754			Cytoplasmic (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.2262G>A	CCDS4246.1																																																																																				0.572	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		70	82	0	0	0	0.00361	0	70	82				
PCDHB12	56124	broad.mit.edu	37	5	140590281	140590281	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140590281G>T	ENST00000239450.2	+	1	1991	c.1802G>T	c.(1801-1803)tGg>tTg	p.W601L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.W264L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	601	Cadherin 6. {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)	p.W601L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACGCCTGGCTGTCGTAC	0.721																																							uc003liz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1801-1803)TGG>TTG		protocadherin beta 12 precursor							26.0	29.0	28.0					5																	140590281		2163	4230	6393	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590281G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1802G>T	5.37:g.140590281G>T	ENSP00000239450:p.Trp601Leu					PCDHB12_uc011dak.1_Missense_Mutation_p.W264L	p.W601L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1991	+			601			Extracellular (Potential).|Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1802G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435948	0.62955	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.49720	0.77;0.77	3.25	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62109	0.2401	M	0.73962	2.25	0.34337	D	0.688309	P	0.40282	0.711	P	0.51742	0.678	T	0.76713	-0.2858	9	0.87932	D	0	.	14.4893	0.67639	0.0:0.0:1.0:0.0	.	601	Q9Y5F1	PCDBC_HUMAN	L	264;601;221	ENSP00000440199:W264L;ENSP00000239450:W601L	ENSP00000239450:W601L	W	+	2	0	PCDHB12	140570465	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.534000	0.82004	1.529000	0.49120	0.479000	0.44913	TGG		0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	193	1	0	3.65163e-15	0.00632	5.03832e-15	22	193				
PCDHGA1	56114	broad.mit.edu	37	5	140712360	140712360	+	Silent	SNP	C	C	G	rs386692920		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140712360C>G	ENST00000517417.1	+	1	2109	c.2109C>G	c.(2107-2109)gtC>gtG	p.V703V	PCDHGA1_ENST00000378105.3_Silent_p.V703V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	703					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V703V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.672																																							uc003lji.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(2107-2109)GTC>GTG		protocadherin gamma subfamily A, 1 isoform 1							66.0	77.0	73.0					5																	140712360		2203	4298	6501	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712360C>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2109C>G	5.37:g.140712360C>G						PCDHGA1_uc011dan.1_Silent_p.V703V	p.V703V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2109	+			703			Helical; (Potential).		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2109C>G	CCDS54922.1																																																																																				0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		67	57	0	0	0	0.00361	0	67	57				
PCDHGA3	56112	broad.mit.edu	37	5	140724427	140724427	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140724427A>C	ENST00000253812.6	+	1	827	c.827A>C	c.(826-828)cAa>cCa	p.Q276P	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	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q276P(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAATGCTCAAGTGTCTTAT	0.448																																							uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(826-828)CAA>CCA		protocadherin gamma subfamily A, 3 isoform 1							45.0	47.0	46.0					5																	140724427		1962	4187	6149	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724427A>C	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.827A>C	5.37:g.140724427A>C	ENSP00000253812:p.Gln276Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.Q36P|PCDHGA3_uc011dap.1_Missense_Mutation_p.Q276P	p.Q276P	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	827	+			276			Cadherin 3.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.827A>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671153	0.29693	.	.	ENSG00000254245	ENST00000253812	T	0.53640	0.61	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	0.274577	0.18843	U	0.129618	T	0.50599	0.1625	L	0.42487	1.325	0.09310	N	1	P;P	0.42039	0.727;0.769	B;P	0.46885	0.395;0.53	T	0.51044	-0.8755	10	0.87932	D	0	.	15.2298	0.73378	1.0:0.0:0.0:0.0	.	276;276	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	P	276	ENSP00000253812:Q276P	ENSP00000253812:Q276P	Q	+	2	0	PCDHGA3	140704611	0.001000	0.12720	0.994000	0.49952	0.430000	0.31655	1.834000	0.39171	2.143000	0.66587	0.533000	0.62120	CAA		0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		24	19	0	0	0	0.002299	0	24	19				
PDGFRB	5159	broad.mit.edu	37	5	149501587	149501587	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:149501587C>A	ENST00000261799.4	-	16	2669	c.2200G>T	c.(2200-2202)Ggg>Tgg	p.G734W		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.G734W(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGCTCTCCCCGGTCAAGGAC	0.562			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2200-2202)GGG>TGG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						155.0	121.0	132.0					5																	149501587		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149501587C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2200G>T	5.37:g.149501587C>A	ENSP00000261799:p.Gly734Trp					PDGFRB_uc010jhd.2_Missense_Mutation_p.G573W	p.G734W	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2669	-		all_hematologic(541;0.224)	734			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2200G>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489287	0.44249	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75938	-0.98	5.12	3.21	0.36854	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.127860	0.35040	N	0.003499	T	0.73590	0.3606	N	0.26042	0.785	0.32003	N	0.603098	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.73427	-0.3986	10	0.37606	T	0.19	.	7.2581	0.26187	0.2922:0.6293:0.0:0.0786	.	734;734	A8KAM8;P09619	.;PGFRB_HUMAN	W	734;404	ENSP00000261799:G734W	ENSP00000261799:G734W	G	-	1	0	PDGFRB	149481780	0.637000	0.27216	0.915000	0.36163	0.391000	0.30476	1.456000	0.35201	1.155000	0.42497	0.484000	0.47621	GGG		0.562	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		19	22	1	0	2.4624e-09	0.008871	3.06744e-09	19	22				
NIPAL4	348938	broad.mit.edu	37	5	156895745	156895745	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:156895745T>A	ENST00000311946.7	+	4	652	c.536T>A	c.(535-537)gTt>gAt	p.V179D	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V160D|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	179						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V117D(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCTGGAGAAGTTGCCAACTTT	0.522																																							uc003lwx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GTT>GAT		ichthyin protein							101.0	109.0	106.0					5																	156895745		2025	4176	6201	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156895745T>A	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.536T>A	5.37:g.156895745T>A	ENSP00000311687:p.Val179Asp					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.V160D|NIPAL4_uc010jin.1_3'UTR	p.V179D	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			4	652	+			179			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.536T>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086304	0.55861	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	T;T	0.70749	-0.51;-0.51	4.75	2.07	0.26955	.	0.318700	0.33161	N	0.005203	T	0.65101	0.2659	M	0.79926	2.475	0.54753	D	0.999989	P;B	0.36909	0.573;0.055	B;B	0.33521	0.165;0.076	T	0.65199	-0.6226	10	0.72032	D	0.01	-7.9546	4.8215	0.13392	0.0:0.5102:0.0:0.4898	.	160;179	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	160;179	ENSP00000406456:V160D;ENSP00000311687:V179D	ENSP00000311687:V179D	V	+	2	0	NIPAL4	156828323	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	2.121000	0.41977	0.780000	0.33566	0.418000	0.28097	GTT		0.522	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		59	52	0	0	0	0.00361	0	59	52				
SLIT3	6586	broad.mit.edu	37	5	168098301	168098301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:168098301G>T	ENST00000519560.1	-	34	4448	c.4029C>A	c.(4027-4029)tgC>tgA	p.C1343*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.C1350*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.C1343*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1343	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C1343*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACGGAGCGGCACAGGCCGT	0.677																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4027-4029)TGC>TGA		slit homolog 3 precursor							43.0	35.0	37.0					5																	168098301		2203	4300	6503	SO:0001587	stop_gained	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168098301G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4029C>A	5.37:g.168098301G>T	ENSP00000430333:p.Cys1343*					SLIT3_uc010jjg.2_Nonsense_Mutation_p.C1350*	p.C1343*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	4449	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1343			EGF-like 7.		A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	ENST00000519560.1	37	c.4029C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	40	8.144226	0.98675	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.16	-3.59	0.04583	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2185	0.73288	0.6215:0.0:0.3785:0.0	.	.	.	.	X	1343;1350;1343	.	ENSP00000332164:C1350X	C	-	3	2	SLIT3	168030879	0.999000	0.42202	0.356000	0.25785	0.910000	0.53928	0.533000	0.23082	-0.956000	0.03631	-1.598000	0.00824	TGC		0.677	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		15	23	1	0	0.000566183	0.00499	0.00061714	15	23				
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:175528581G>T	ENST00000253490.4	+	12	718	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Nonsense_Mutation_p.E144*|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.E144*			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	221								p.E221K(1)|p.E221*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463																																							uc003mdk.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(661-663)GAA>TAA		hypothetical protein LOC202134							137.0	147.0	143.0					5																	175528581		2203	4300	6503	SO:0001587	stop_gained	202134							g.chr5:175528581G>T	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.661G>T	5.37:g.175528581G>T	ENSP00000253490:p.Glu221*						p.E221*	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	12	718	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	221					A8MTI1	Nonsense_Mutation	SNP	ENST00000253490.4	37	c.661G>T		.	.	.	.	.	.	.	.	.	.	G	3.404	-0.121683	0.06838	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.752	-1.5	0.08691	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.9269	0.05787	0.664:0.0:0.336:0.0	.	.	.	.	X	144;221	.	ENSP00000253490:E221X	E	+	1	0	FAM153B	175461187	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.024000	0.12435	-0.193000	0.10415	-1.169000	0.01745	GAA		0.463	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		51	106	1	0	2.27459e-33	0.00361	3.56735e-33	51	106				
FGFR4	2264	broad.mit.edu	37	5	176520201	176520201	+	Missense_Mutation	SNP	G	G	T	rs368558499		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:176520201G>T	ENST00000292408.4	+	9	1365	c.1120G>T	c.(1120-1122)Gcg>Tcg	p.A374S	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Missense_Mutation_p.A374S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	374					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.A374S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	CATCCTGTACGCGTCGGGCTC	0.682										TSP Lung(9;0.080)																													uc003mfl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1120-1122)GCG>TCG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						45.0	37.0	40.0					5																	176520201		2203	4299	6502	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520201G>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1120G>T	5.37:g.176520201G>T	ENSP00000292408:p.Ala374Ser	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.A374S|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	p.A374S	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1287	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	374			Helical; (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1120G>T	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.760075|1.760075	0.31137|0.31137	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000502906;ENST00000377207|ENST00000511076	D;D|.	0.83335|.	-1.71;-1.71|.	5.18|5.18	-0.748|-0.748	0.11087|0.11087	.|.	1.680090|.	0.03611|.	N|.	0.234819|.	T|T	0.26666|0.26666	0.0652|0.0652	N|N	0.16743|0.16743	0.435|0.435	0.38093|0.38093	D|D	0.937026|0.937026	B|.	0.28933|.	0.228|.	B|.	0.26517|.	0.07|.	T|T	0.11567|0.11567	-1.0582|-1.0582	10|5	0.44086|.	T|.	0.13|.	.|.	2.9223|2.9223	0.05773|0.05773	0.4494:0.0:0.2013:0.3493|0.4494:0.0:0.2013:0.3493	.|.	374|.	P22455|.	FGFR4_HUMAN|.	S|L	374;374;602|9	ENSP00000292408:A374S;ENSP00000424960:A374S|.	ENSP00000292408:A374S|.	A|R	+|+	1|2	0|0	FGFR4|FGFR4	176452807|176452807	0.077000|0.077000	0.21312|0.21312	0.017000|0.017000	0.16124|0.16124	0.639000|0.639000	0.38242|0.38242	1.147000|1.147000	0.31602|0.31602	-0.046000|-0.046000	0.13446|0.13446	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.682	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			4	22	1	0	1.23904e-05	0.000602	1.405e-05	4	22				
BPHL	670	broad.mit.edu	37	6	3137679	3137680	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:3137679_3137680TG>CT	ENST00000380379.5	+	5	665_666	c.616_617TG>CT	c.(616-618)TGt>CTt	p.C206L	BPHL_ENST00000434640.1_Missense_Mutation_p.C189L|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380375.3_Missense_Mutation_p.C189L|BPHL_ENST00000380368.2_Intron	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	206					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)	p.C189L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGCCAGAACCTGTGAAAAGTGG	0.465																																							uc003mva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)TGT>CTT		biphenyl hydrolase-like precursor																																				SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3137679_3137680TG>CT	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	Exception_encountered	6.37:g.3137679_3137680delinsCT	ENSP00000369739:p.Cys206Leu					BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Missense_Mutation_p.C189L	p.C206L	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			5	665_666	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	206					Q00306|Q13855|Q3KP51	Missense_Mutation	DNP	ENST00000380379.5	37	c.616_617TG>CT	CCDS4483.2																																																																																				0.465	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			25	159	0	0	0	0.004672	0	25	159				
GMPR	2766	broad.mit.edu	37	6	16274679	16274679	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:16274679G>C	ENST00000259727.4	+	5	613	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	167					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.E167Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AATGGTAGAAGAGCTTATTCT	0.473																																							uc003nbs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)GAG>CAG		guanosine monophosphate reductase							159.0	151.0	153.0					6																	16274679		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16274679G>C		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.499G>C	6.37:g.16274679G>C	ENSP00000259727:p.Glu167Gln						p.E167Q	NM_006877	NP_006868	P36959	GMPR1_HUMAN			5	613	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	167					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.499G>C	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447827	0.84101	.	.	ENSG00000137198	ENST00000259727	T	0.79554	-1.28	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.81814	0.4902	M	0.89601	3.045	0.80722	D	1	P	0.34522	0.455	B	0.33620	0.167	D	0.83427	0.0036	10	0.52906	T	0.07	0.0199	19.8936	0.96942	0.0:0.0:1.0:0.0	.	167	P36959	GMPR1_HUMAN	Q	167	ENSP00000259727:E167Q	ENSP00000259727:E167Q	E	+	1	0	GMPR	16382658	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.187000	0.94912	2.793000	0.96121	0.655000	0.94253	GAG		0.473	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			3	122	0	0	0	0.004672	0	3	122				
RBM24	221662	broad.mit.edu	37	6	17283081	17283081	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:17283081C>A	ENST00000379052.5	+	2	450	c.214C>A	c.(214-216)Ccc>Acc	p.P72T	RBM24_ENST00000425446.2_Missense_Mutation_p.P14T|RBM24_ENST00000318204.5_Missense_Mutation_p.P27T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.P72T(1)|p.P27T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTGCAAGGATCCCAATCCCAT	0.493																																							uc003nbz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(214-216)CCC>ACC		RNA binding motif protein 24 isoform 1							120.0	99.0	106.0					6																	17283081		2203	4300	6503	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17283081C>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.214C>A	6.37:g.17283081C>A	ENSP00000368341:p.Pro72Thr					RBM24_uc003nby.3_Missense_Mutation_p.P72T|RBM24_uc011dix.1_Missense_Mutation_p.P14T|RBM24_uc003nca.2_Missense_Mutation_p.P27T	p.P72T	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		2	218	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	72			RRM.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.214C>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681875	0.88542	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	T;T;T;T	0.74106	3.4;-0.81;1.17;3.4	4.83	4.83	0.62350	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.123358	0.56097	D	0.000027	T	0.67674	0.2918	L	0.31294	0.92	0.80722	D	1	P;B;B	0.45283	0.855;0.161;0.161	P;B;B	0.50708	0.648;0.297;0.297	T	0.74548	-0.3629	10	0.87932	D	0	-34.7758	17.9271	0.88987	0.0:1.0:0.0:0.0	.	27;72;72	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	T	72;31;14;27	ENSP00000368341:P72T;ENSP00000426222:P31T;ENSP00000396898:P14T;ENSP00000319551:P27T	ENSP00000319551:P27T	P	+	1	0	RBM24	17391060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.614000	0.82996	2.227000	0.72691	0.655000	0.94253	CCC		0.493	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		24	54	1	0	1.1804e-14	0.003954	1.61333e-14	24	54				
NRSN1	140767	broad.mit.edu	37	6	24145935	24145935	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:24145935C>A	ENST00000378491.4	+	4	650	c.349C>A	c.(349-351)Ctg>Atg	p.L117M		NM_080723.4	NP_542454.3			neurensin 1									p.L117M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CATGTACAAGCTGGCAGGAGC	0.498																																							uc010jpq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CTG>ATG		neurensin 1							97.0	86.0	90.0					6																	24145935		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145935C>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.349C>A	6.37:g.24145935C>A	ENSP00000367752:p.Leu117Met						p.L117M	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	586	+			117						Missense_Mutation	SNP	ENST00000378491.4	37	c.349C>A	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000878	0.74818	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.22945	1.93	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38457	-0.9660	10	0.62326	D	0.03	-18.6127	9.7493	0.40466	0.0:0.8468:0.0:0.1532	.	117	Q8IZ57	NRSN1_HUMAN	M	117	ENSP00000367752:L117M	ENSP00000367738:L117M	L	+	1	2	NRSN1	24253914	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.576000	0.46033	2.524000	0.85096	0.557000	0.71058	CTG		0.498	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		27	73	1	0	1.17739e-12	0.005443	1.56746e-12	27	73				
HIST1H1T	3010	broad.mit.edu	37	6	26107887	26107887	+	Missense_Mutation	SNP	C	C	A	rs374107007		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:26107887C>A	ENST00000338379.4	-	1	477	c.435G>T	c.(433-435)aaG>aaT	p.K145N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	145					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K145N(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTTTAGCAGTCTTTGGTGACT	0.463																																							uc003ngj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)AAG>AAT		histone cluster 1, H1t							120.0	112.0	114.0					6																	26107887		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107887C>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.435G>T	6.37:g.26107887C>A	ENSP00000341214:p.Lys145Asn						p.K145N	NM_005323	NP_005314	P22492	H1T_HUMAN			1	478	-			145					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.435G>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.905402	0.52333	.	.	ENSG00000187475	ENST00000338379	T	0.07444	3.19	5.24	2.38	0.29361	.	1.206740	0.06057	N	0.657687	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.46247	-0.9205	10	0.52906	T	0.07	-14.7855	5.054	0.14524	0.1473:0.6237:0.0:0.229	.	145	P22492	H1T_HUMAN	N	145	ENSP00000341214:K145N	ENSP00000341214:K145N	K	-	3	2	HIST1H1T	26215866	0.343000	0.24818	0.013000	0.15412	0.002000	0.02628	0.693000	0.25497	0.754000	0.32968	0.655000	0.94253	AAG		0.463	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		95	134	1	0	5.48297e-45	0.00361	8.77275e-45	95	134				
HIST1H4E	8367	broad.mit.edu	37	6	26204885	26204885	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:26204885G>T	ENST00000360441.4	+	1	28	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	5					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G5C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTCTGGTCGCGGCAAAGGCGG	0.517																																							uc003ngy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)GGC>TGC		histone cluster 1, H4e							71.0	75.0	74.0					6																	26204885		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26204885G>T	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.13G>T	6.37:g.26204885G>T	ENSP00000353624:p.Gly5Cys						p.G5C	NM_003545	NP_003536	P62805	H4_HUMAN			1	13	+		all_hematologic(11;0.196)	5					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.13G>T	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.565772	0.27915	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	U	0.000000	T	0.63745	0.2537	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.70400	-0.4882	6	0.87932	D	0	.	12.1184	0.53878	0.0:0.0:1.0:0.0	.	.	.	.	C	5	.	ENSP00000353624:G5C	G	+	1	0	HIST1H4E	26312864	1.000000	0.71417	0.560000	0.28344	0.028000	0.11728	9.210000	0.95106	1.448000	0.47680	0.563000	0.77884	GGC		0.517	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		45	94	1	0	4.00472e-15	0.00361	5.50807e-15	45	94				
PRSS16	10279	broad.mit.edu	37	6	27222627	27222627	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:27222627G>C	ENST00000230582.3	+	10	1321	c.1306G>C	c.(1306-1308)Gct>Cct	p.A436P	PRSS16_ENST00000421826.2_Missense_Mutation_p.A179P|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	436					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A436P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GACCCCTGGGGCTAACAAAGT	0.552																																					NSCLC(178;1118 2105 17078 23587 44429)	NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1306-1308)GCT>CCT		protease, serine, 16 precursor							91.0	87.0	88.0					6																	27222627		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222627G>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1306G>C	6.37:g.27222627G>C	ENSP00000230582:p.Ala436Pro					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.A179P|PRSS16_uc003njd.2_Intron	p.A436P	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			10	1318	+			436					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1306G>C	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121732	0.56613	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.20069	2.1;2.1	4.5	4.5	0.54988	.	0.266339	0.38663	N	0.001614	T	0.32466	0.0830	M	0.66939	2.045	0.37367	D	0.911486	D;D	0.67145	0.996;0.994	D;D	0.67382	0.951;0.938	T	0.06972	-1.0797	10	0.62326	D	0.03	-22.3078	12.9053	0.58149	0.0:0.0:1.0:0.0	.	179;436	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	P	179;436	ENSP00000404349:A179P;ENSP00000230582:A436P	ENSP00000230582:A436P	A	+	1	0	PRSS16	27330606	0.958000	0.32768	0.879000	0.34478	0.389000	0.30415	2.115000	0.41921	2.505000	0.84491	0.557000	0.71058	GCT		0.552	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			14	177	0	0	0	0.001855	0	14	177				
MRPS18B	28973	broad.mit.edu	37	6	30593315	30593315	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:30593315G>T	ENST00000259873.4	+	7	675	c.518G>T	c.(517-519)cGg>cTg	p.R173L	ATAT1_ENST00000376485.4_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000330083.5_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	173					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.R173L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTTGAACCACGGGACCTTGAC	0.502																																							uc003nqo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)CGG>CTG		mitochondrial ribosomal protein S18B precursor							191.0	223.0	211.0					6																	30593315		1510	2709	4219	SO:0001583	missense	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593315G>T	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.518G>T	6.37:g.30593315G>T	ENSP00000259873:p.Arg173Leu					MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Missense_Mutation_p.R130L|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank	p.R173L	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN			7	675	+			173					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.518G>T	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228527	0.79576	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.50548	0.74	5.02	5.02	0.67125	.	0.225469	0.36374	N	0.002628	T	0.52901	0.1763	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.992	D;P	0.67231	0.95;0.758	T	0.57323	-0.7831	10	0.66056	D	0.02	.	9.3014	0.37847	0.0946:0.0:0.9054:0.0	.	130;173	Q5STN0;Q9Y676	.;RT18B_HUMAN	L	173;130	ENSP00000259873:R173L	ENSP00000259873:R173L	R	+	2	0	MRPS18B	30701294	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.539000	0.45718	2.618000	0.88619	0.655000	0.94253	CGG		0.502	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			58	236	1	0	2.43698e-19	0.00361	3.51904e-19	58	236				
LHFPL5	222662	broad.mit.edu	37	6	35773838	35773838	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:35773838G>T	ENST00000373853.1	+	1	769	c.391G>T	c.(391-393)Gca>Tca	p.A131S	LHFPL5_ENST00000360215.1_Missense_Mutation_p.A131S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	131					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.A131S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TAAGATCTGTGCATGGATGCA	0.587																																							uc003olg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)GCA>TCA		lipoma HMGIC fusion partner-like 5							46.0	47.0	47.0					6																	35773838		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773838G>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.391G>T	6.37:g.35773838G>T	ENSP00000362960:p.Ala131Ser						p.A131S	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			1	768	+			131			Helical; (Potential).		B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.391G>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767455	0.90020	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.74106	-0.81;-0.81	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	L	0.48174	1.505	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80299	-0.1441	10	0.52906	T	0.07	-26.7879	19.6961	0.96026	0.0:0.0:1.0:0.0	.	131	Q8TAF8	TMHS_HUMAN	S	131	ENSP00000362960:A131S;ENSP00000353346:A131S	ENSP00000353346:A131S	A	+	1	0	LHFPL5	35881816	1.000000	0.71417	0.747000	0.31113	0.884000	0.51177	9.803000	0.99136	2.656000	0.90262	0.549000	0.68633	GCA		0.587	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		29	21	1	0	4.87955e-14	0.005443	6.6071e-14	29	21				
DNAH8	1769	broad.mit.edu	37	6	38790760	38790760	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:38790760T>A	ENST00000359357.3	+	25	3273	c.3019T>A	c.(3019-3021)Ttt>Att	p.F1007I	DNAH8_ENST00000441566.1_Missense_Mutation_p.F1007I|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.F1224I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1007					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F1007I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGCAGGACTTTCAGAAGTA	0.473																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3019-3021)TTT>ATT		dynein, axonemal, heavy polypeptide 8							100.0	104.0	102.0					6																	38790760		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790760T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3019T>A	6.37:g.38790760T>A	ENSP00000352312:p.Phe1007Ile						p.F1007I	NM_001371	NP_001362					25	3619	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3019T>A		.	.	.	.	.	.	.	.	.	.	T	27.2	4.805575	0.90623	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.34275	1.44;1.45;1.37	5.53	5.53	0.82687	.	0.056321	0.64402	D	0.000001	T	0.47192	0.1432	M	0.85373	2.75	0.50632	D	0.999881	P	0.51147	0.942	P	0.53006	0.715	T	0.57768	-0.7754	10	0.72032	D	0.01	.	14.2436	0.65973	0.0:0.0:0.0:1.0	.	1007	Q96JB1	DYH8_HUMAN	I	1212;1212;1007;1007	ENSP00000333363:F1212I;ENSP00000352312:F1007I;ENSP00000402294:F1007I	ENSP00000333363:F1212I	F	+	1	0	DNAH8	38898738	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.800000	0.69108	2.103000	0.63969	0.383000	0.25322	TTT		0.473	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		36	21	0	0	0	0.006999	0	36	21				
DNAH8	1769	broad.mit.edu	37	6	38919134	38919134	+	Missense_Mutation	SNP	T	T	A	rs571985896		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:38919134T>A	ENST00000359357.3	+	80	11892	c.11638T>A	c.(11638-11640)Tat>Aat	p.Y3880N	DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3844N|DNAH8_ENST00000449981.2_Missense_Mutation_p.Y4097N|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3880	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3880N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCAAGAAAGTATATTGCAGA	0.378																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(11638-11640)TAT>AAT		dynein, axonemal, heavy polypeptide 8							130.0	138.0	135.0					6																	38919134		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38919134T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11638T>A	6.37:g.38919134T>A	ENSP00000352312:p.Tyr3880Asn					DNAH8_uc003oog.1_Missense_Mutation_p.Y329N|uc003oof.1_Intron	p.Y3880N	NM_001371	NP_001362					80	12238	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11638T>A		.	.	.	.	.	.	.	.	.	.	T	26.2	4.710309	0.89018	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10099	2.91;2.91;2.91	5.6	5.6	0.85130	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68262	-0.5455	10	0.87932	D	0	.	16.0618	0.80841	0.0:0.0:0.0:1.0	.	3844;3880	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	N	4085;4085;3880;3844	ENSP00000333363:Y4085N;ENSP00000352312:Y3880N;ENSP00000402294:Y3844N	ENSP00000333363:Y4085N	Y	+	1	0	DNAH8	39027112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.905000	0.87416	2.252000	0.74401	0.533000	0.62120	TAT		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		124	101	0	0	0	0.00361	0	124	101				
TREML4	285852	broad.mit.edu	37	6	41196631	41196631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:41196631C>A	ENST00000341495.2	+	2	347	c.243C>A	c.(241-243)taC>taA	p.Y81*	TREML4_ENST00000448827.2_Nonsense_Mutation_p.Y81*	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	81	Ig-like V-type.					extracellular region (GO:0005576)		p.Y81*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGTCTCATTACACAATCTGGG	0.493																																							uc003oqc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(241-243)TAC>TAA		triggering receptor expressed on myeloid							85.0	79.0	81.0					6																	41196631		2203	4300	6503	SO:0001587	stop_gained	285852					extracellular region		g.chr6:41196631C>A	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.243C>A	6.37:g.41196631C>A	ENSP00000342570:p.Tyr81*					TREML4_uc003oqd.2_RNA	p.Y81*	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN			2	347	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		81			Ig-like V-type.		B7ZL92	Nonsense_Mutation	SNP	ENST00000341495.2	37	c.243C>A	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	18.35	3.605549	0.66445	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	.	.	.	3.8	0.938	0.19500	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-3.0783	5.9457	0.19217	0.0:0.6376:0.0:0.3624	.	.	.	.	X	81	.	ENSP00000342570:Y81X	Y	+	3	2	TREML4	41304609	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.746000	0.04829	0.296000	0.22592	-0.218000	0.12543	TAC		0.493	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			51	38	1	0	2.0833e-19	0.00361	3.01767e-19	51	38				
PTCRA	171558	broad.mit.edu	37	6	42893278	42893278	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:42893278G>A	ENST00000304672.1	+	4	785	c.704G>A	c.(703-705)gGg>gAg	p.G235E	PTCRA_ENST00000441198.1_Missense_Mutation_p.G210E|PTCRA_ENST00000446507.1_Missense_Mutation_p.G128E	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	235					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)		p.G235E(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCAGTATGGGGGGAAGGGTCT	0.647																																							uc003osx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(703-705)GGG>GAG		pre T-cell antigen receptor alpha precursor							25.0	21.0	22.0					6																	42893278		2197	4294	6491	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42893278G>A	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.704G>A	6.37:g.42893278G>A	ENSP00000304447:p.Gly235Glu					PTCRA_uc010jxy.2_Missense_Mutation_p.G210E|PTCRA_uc010jxz.2_Missense_Mutation_p.G128E	p.G235E	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	785	+	Colorectal(47;0.196)		235			Cytoplasmic (Potential).		Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.704G>A	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485697	0.01018	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507;ENST00000418903	T;T;T	0.58506	1.07;1.03;0.33	3.78	-3.25	0.05079	.	1.371850	0.05379	N	0.536881	T	0.06554	0.0168	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12243	-1.0555	10	0.02654	T	1	.	5.2281	0.15406	0.3617:0.1858:0.4525:0.0	.	128;210;235	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	E	235;210;128;81	ENSP00000304447:G235E;ENSP00000409550:G210E;ENSP00000392288:G128E	ENSP00000304447:G235E	G	+	2	0	PTCRA	43001256	0.185000	0.23213	0.000000	0.03702	0.005000	0.04900	0.547000	0.23299	-0.505000	0.06568	-1.152000	0.01820	GGG		0.647	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		3	5	0	0	0	0.004672	0	3	5				
CUL7	9820	broad.mit.edu	37	6	43014777	43014777	+	Silent	SNP	C	C	T	rs373517618		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:43014777C>T	ENST00000265348.3	-	10	2323	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000535468.1_Silent_p.L830L			Q14999	CUL7_HUMAN	cullin 7	746					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L746L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTGATTCAGCACCACGG	0.567																																							uc003otq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(2236-2238)CTG>CTA		cullin 7							136.0	127.0	130.0					6																	43014777		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43014777C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2238G>A	6.37:g.43014777C>T						CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.L830L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.L746L	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		10	2541	-			746					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.2238G>A	CCDS4881.1																																																																																				0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		18	142	0	0	0	0.008871	0	18	142				
COL19A1	1310	broad.mit.edu	37	6	70886415	70886415	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:70886415G>A	ENST00000322773.4	+	42	2728	c.2626G>A	c.(2626-2628)Gat>Aat	p.D876N	COL19A1_ENST00000393344.1_Missense_Mutation_p.D498N	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	876	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.D876N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAACAGGGAGATCGAGGCCC	0.378																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2626-2628)GAT>AAT		alpha 1 type XIX collagen precursor							119.0	112.0	114.0					6																	70886415		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.chr6:70886415G>A		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.2626G>A	6.37:g.70886415G>A	ENSP00000316030:p.Asp876Asn						p.D876N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			42	2743	+			876			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2626G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318816	0.60524	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93604	-3.25;-3.25	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.90844	0.7124	L	0.28504	0.86	0.80722	D	1	P	0.47484	0.896	P	0.56612	0.802	D	0.89763	0.3948	10	0.28530	T	0.3	.	15.4606	0.75353	0.0:0.0:1.0:0.0	.	876	Q14993	COJA1_HUMAN	N	876;498	ENSP00000316030:D876N;ENSP00000377013:D498N	ENSP00000316030:D876N	D	+	1	0	COL19A1	70943136	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.311000	0.59147	2.431000	0.82371	0.591000	0.81541	GAT		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	44	0	0	0	0.000602	0	5	44				
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																							uc003phv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)ACG>ACT		cytochrome c oxidase subunit VIIa polypeptide 2							89.0	101.0	97.0					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950955C>A	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.45G>T	6.37:g.75950955C>A							p.T15T	NM_001865	NP_001856	P14406	CX7A2_HUMAN			2	120	-			15					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.45G>T																																																																																					0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		98	103	1	0	7.59261e-44	0.00361	1.21038e-43	98	103				
SNX14	57231	broad.mit.edu	37	6	86238049	86238049	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:86238049C>G	ENST00000314673.3	-	20	2102	c.1926G>C	c.(1924-1926)aaG>aaC	p.K642N	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.K589N|SNX14_ENST00000369627.2_Missense_Mutation_p.K633N|SNX14_ENST00000505648.1_Missense_Mutation_p.K590N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	642	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.K642N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAATGATCCTCTTAGAAGGAA	0.318																																							uc003pkr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1924-1926)AAG>AAC		sorting nexin 14 isoform a							141.0	157.0	152.0					6																	86238049		2203	4299	6502	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86238049C>G	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1926G>C	6.37:g.86238049C>G	ENSP00000313121:p.Lys642Asn					SNX14_uc003pkp.2_Missense_Mutation_p.K505N|SNX14_uc003pkq.2_Missense_Mutation_p.K248N|SNX14_uc011dzg.1_Missense_Mutation_p.K590N|SNX14_uc003pks.2_Missense_Mutation_p.K589N|SNX14_uc003pkt.2_Missense_Mutation_p.K633N	p.K642N	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	20	2119	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	642			PX.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1926G>C	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632257	0.67015	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.6	2.85	0.33270	Phox homologous domain (5);	0.096367	0.64402	D	0.000001	T	0.58452	0.2123	M	0.92507	3.315	0.58432	D	0.99999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.957;0.979;0.975;0.957	T	0.64300	-0.6440	10	0.87932	D	0	-13.6051	8.2862	0.31930	0.0:0.696:0.0:0.304	.	633;589;642;590	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	N	589;99;642;590;633;560;7	ENSP00000257769:K589N;ENSP00000313121:K642N;ENSP00000427380:K590N;ENSP00000358641:K633N;ENSP00000425630:K560N;ENSP00000391981:K7N	ENSP00000313121:K642N	K	-	3	2	SNX14	86294768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.777000	0.26718	0.315000	0.23110	0.585000	0.79938	AAG		0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		91	98	0	0	0	0.00361	0	91	98				
CNR1	1268	broad.mit.edu	37	6	88854965	88854965	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:88854965T>C	ENST00000537554.1	-	2	3591	c.29A>G	c.(28-30)gAt>gGt	p.D10G	CNR1_ENST00000369501.2_Missense_Mutation_p.D10G|CNR1_ENST00000369499.2_Missense_Mutation_p.D10G|CNR1_ENST00000535130.1_Missense_Mutation_p.D10G|CNR1_ENST00000468898.1_Missense_Mutation_p.D10G|CNR1_ENST00000549716.1_Missense_Mutation_p.I5V|CNR1_ENST00000549890.1_Missense_Mutation_p.D10G|CNR1_ENST00000362094.5_Missense_Mutation_p.D10G|CNR1_ENST00000428600.2_Missense_Mutation_p.D10G	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	10					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)	p.D10G(1)		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)	GAAGGTGGTATCTGCAAGGCC	0.483																																							uc011dzq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(28-30)GAT>GGT		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						162.0	138.0	147.0					6																	88854965		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.chr6:88854965T>C	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.29A>G	6.37:g.88854965T>C	ENSP00000441046:p.Asp10Gly					CNR1_uc010kbz.2_Missense_Mutation_p.D10G|CNR1_uc011dzr.1_Missense_Mutation_p.D10G|CNR1_uc011dzs.1_Missense_Mutation_p.D10G|CNR1_uc003pmq.3_Missense_Mutation_p.D10G|CNR1_uc011dzt.1_Missense_Mutation_p.D10G|CNR1_uc010kca.2_Missense_Mutation_p.D10G	p.D10G	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3592	-		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)	10			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.29A>G	CCDS5015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.35|11.35	1.613353|1.613353	0.28712|0.28712	.|.	.|.	ENSG00000118432|ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000362094;ENST00000468898;ENST00000428600;ENST00000551417|ENST00000549716	T;T;T;T;T;D;T|T	0.88741|0.73897	-0.98;-0.98;-0.98;-0.98;-0.98;-2.42;-0.98|-0.79	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.141326|.	0.64402|.	D|.	0.000008|.	T|T	0.60418|0.60418	0.2267|0.2267	L|L	0.27053|0.27053	0.805|0.805	0.34009|0.34009	D|D	0.651221|0.651221	P;B|.	0.48162|.	0.906;0.0|.	B;B|.	0.43386|.	0.418;0.001|.	T|T	0.64550|0.64550	-0.6381|-0.6381	10|7	0.87932|0.33141	D|T	0|0.24	.|.	16.1022|16.1022	0.81184|0.81184	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	10;10|.	P21554-3;P21554|.	.;CNR1_HUMAN|.	G|V	10|5	ENSP00000358513:D10G;ENSP00000442689:D10G;ENSP00000441046:D10G;ENSP00000358511:D10G;ENSP00000446819:D10G;ENSP00000420188:D10G;ENSP00000412192:D10G|ENSP00000449549:I5V	ENSP00000355418:D10G|ENSP00000449549:I5V	D|I	-|-	2|1	0|0	CNR1|CNR1	88911684|88911684	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.963000|0.963000	0.63663|0.63663	7.698000|7.698000	0.84413|0.84413	2.205000|2.205000	0.71048|0.71048	0.460000|0.460000	0.39030|0.39030	GAT|ATA		0.483	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			60	58	0	0	0	0.00361	0	60	58				
MAP3K7	6885	broad.mit.edu	37	6	91257081	91257081	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:91257081C>G	ENST00000369329.3	-	11	1267	c.1106G>C	c.(1105-1107)gGa>gCa	p.G369A	MAP3K7_ENST00000369320.1_Missense_Mutation_p.G50A|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G369A|MAP3K7_ENST00000369325.3_Missense_Mutation_p.G369A|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G369A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	369					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.G369A(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGGAGGCTCCCAAGCTTAA	0.473																																							uc003pnz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1105-1107)GGA>GCA		mitogen-activated protein kinase kinase kinase 7							135.0	138.0	137.0					6																	91257081		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91257081C>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1106G>C	6.37:g.91257081C>G	ENSP00000358335:p.Gly369Ala					MAP3K7_uc003poa.1_Missense_Mutation_p.G369A|MAP3K7_uc003pob.1_Missense_Mutation_p.G369A|MAP3K7_uc003poc.1_Missense_Mutation_p.G369A	p.G369A	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	11	1268	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	369					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1106G>C	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	4.664	0.123477	0.08931	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.75050	-0.89;-0.9;-0.89;-0.9	5.95	5.95	0.96441	.	0.151564	0.56097	D	0.000021	T	0.34019	0.0883	N	0.08118	0	0.40274	D	0.978324	B;B;B;B	0.20052	0.009;0.006;0.041;0.002	B;B;B;B	0.17979	0.006;0.004;0.02;0.004	T	0.33599	-0.9862	10	0.05959	T	0.93	.	14.1742	0.65529	0.0:0.7532:0.2468:0.0	.	369;369;369;369	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	A	369;369;369;369;50;296	ENSP00000358338:G369A;ENSP00000358335:G369A;ENSP00000358331:G369A;ENSP00000358333:G369A	ENSP00000358326:G50A	G	-	2	0	MAP3K7	91313802	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.336000	0.52113	2.826000	0.97356	0.491000	0.48974	GGA		0.473	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		73	102	0	0	0	0.00361	0	73	102				
TAAR8	83551	broad.mit.edu	37	6	132874098	132874098	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:132874098G>T	ENST00000275200.1	+	1	267	c.267G>T	c.(265-267)atG>atT	p.M89I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	89					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)	p.M89I(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTTTCAGCATGGTCAGGACGG	0.458																																							uc011ecj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)ATG>ATT		trace amine associated receptor 8							176.0	159.0	165.0					6																	132874098		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874098G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.267G>T	6.37:g.132874098G>T	ENSP00000275200:p.Met89Ile						p.M89I	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	267	+	Breast(56;0.112)		89			Extracellular (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.267G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859993	0.51482	.	.	ENSG00000146385	ENST00000275200	T	0.34859	1.34	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.069847	0.51477	D	0.000081	T	0.25419	0.0618	L	0.38692	1.165	0.44123	D	0.996908	B	0.27498	0.18	B	0.37387	0.248	T	0.19549	-1.0302	10	0.54805	T	0.06	-21.1287	17.3234	0.87241	0.0:0.0:1.0:0.0	.	89	Q969N4	TAAR8_HUMAN	I	89	ENSP00000275200:M89I	ENSP00000275200:M89I	M	+	3	0	TAAR8	132915791	0.171000	0.23029	1.000000	0.80357	0.568000	0.35870	0.446000	0.21694	2.375000	0.81037	0.655000	0.94253	ATG		0.458	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		113	71	1	0	6.46527e-39	0.00361	1.01948e-38	113	71				
ECT2L	345930	broad.mit.edu	37	6	139159550	139159550	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:139159550T>A	ENST00000423192.1	+	4	402	c.241T>A	c.(241-243)Tta>Ata	p.L81I	ECT2L_ENST00000541398.1_Missense_Mutation_p.L12I|ECT2L_ENST00000367682.2_Missense_Mutation_p.L81I			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	81	F-box.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L81I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTACAGTGTTACCACGCTT	0.403			"""N, Splice, Mis"""		ETP ALL																																		uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(241-243)TTA>ATA		epithelial cell transforming sequence 2							110.0	104.0	106.0					6																	139159550		1838	4083	5921	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139159550T>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.241T>A	6.37:g.139159550T>A	ENSP00000387388:p.Leu81Ile					ECT2L_uc011edq.1_Missense_Mutation_p.L12I	p.L81I	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			3	344	+			81			F-box.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.241T>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930238	0.73327	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.78481	-1.18;-1.18;-1.18	5.76	3.41	0.39046	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.090140	0.45867	D	0.000338	T	0.79799	0.4508	M	0.91612	3.225	0.27983	N	0.935953	P;P	0.52692	0.944;0.955	P;P	0.54706	0.646;0.759	T	0.75637	-0.3249	10	0.87932	D	0	-1.0269	7.2959	0.26393	0.0:0.2351:0.0:0.7649	.	12;81	F5H7S9;Q008S8	.;ECT2L_HUMAN	I	81;81;12	ENSP00000387388:L81I;ENSP00000356655:L81I;ENSP00000442307:L12I	ENSP00000356655:L81I	L	+	1	2	ECT2L	139201243	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.625000	0.37029	0.474000	0.27392	0.477000	0.44152	TTA		0.403	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		11	52	0	0	0	0.001855	0	11	52				
VTA1	51534	broad.mit.edu	37	6	142510618	142510618	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:142510618T>C	ENST00000367630.4	+	5	525	c.467T>C	c.(466-468)tTa>tCa	p.L156S	VTA1_ENST00000452973.2_Missense_Mutation_p.L98S|VTA1_ENST00000367621.1_Missense_Mutation_p.L98S|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	156	Interaction with IST1.			CL -> V (in Ref. 3; AAF36148). {ECO:0000305}.	endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L156S(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CATAATTGTTTAAAGAATGGG	0.343																																							uc003qiw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(466-468)TTA>TCA		Vps20-associated 1 homolog							106.0	109.0	108.0					6																	142510618		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142510618T>C	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.467T>C	6.37:g.142510618T>C	ENSP00000356602:p.Leu156Ser					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.L98S	p.L156S	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	5	482	+	Breast(32;0.155)		156	CL -> V (in Ref. 3; AAF36148).		Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.467T>C	CCDS5197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.333684|4.333684	0.81801|0.81801	.|.	.|.	ENSG00000009844|ENSG00000009844	ENST00000427932|ENST00000367630;ENST00000367621;ENST00000452973	.|T;T;T	.|0.54071	.|0.59;0.59;0.59	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Vacuolar protein sorting-associate Vta1, N-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.73458	.|0.3589	M|M	0.91612|0.91612	3.225|3.225	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	.|T	.|0.80982	.|-0.1139	.|10	.|0.87932	.|D	.|0	.|-8.1104	14.5256|14.5256	0.67887|0.67887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|98;156	.|E7ETQ7;Q9NP79	.|.;VTA1_HUMAN	.|S	-1|156;98;98	.|ENSP00000356602:L156S;ENSP00000356593:L98S;ENSP00000395767:L98S	.|ENSP00000356593:L98S	.|L	+|+	.|2	.|0	VTA1|VTA1	142552311|142552311	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.978000|0.978000	0.69477|0.69477	6.819000|6.819000	0.75262|0.75262	2.065000|2.065000	0.61736|0.61736	0.455000|0.455000	0.32223|0.32223	.|TTA		0.343	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		58	37	0	0	0	0.00361	0	58	37				
HIVEP2	3097	broad.mit.edu	37	6	143080987	143080987	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:143080987G>A	ENST00000367604.1	-	8	7077	c.6438C>T	c.(6436-6438)ccC>ccT	p.P2146P	HIVEP2_ENST00000012134.2_Silent_p.P2146P|HIVEP2_ENST00000367603.2_Silent_p.P2146P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2146	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P2146P(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAGCCCTTCTGGGAGATGGCG	0.463																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6436-6438)CCC>CCT		human immunodeficiency virus type I enhancer							195.0	179.0	184.0					6																	143080987		1906	4118	6024	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143080987G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6438C>T	6.37:g.143080987G>A							p.P2146P	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7181	-			2146			10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|10.|Arg-rich.		Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.6438C>T	CCDS43510.1																																																																																				0.463	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			54	39	0	0	0	0.00361	0	54	39				
LATS1	9113	broad.mit.edu	37	6	150001196	150001196	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:150001196C>G	ENST00000543571.1	-	5	2955	c.2408G>C	c.(2407-2409)aGt>aCt	p.S803T	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S803T	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.S803T(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCGTGCCAGACTTTCTGGAAA	0.338																																							uc003qmu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(2407-2409)AGT>ACT		LATS homolog 1							124.0	123.0	123.0					6																	150001196		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001196C>G	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2408G>C	6.37:g.150001196C>G	ENSP00000437550:p.Ser803Thr					LATS1_uc010kif.1_Missense_Mutation_p.S698T|LATS1_uc003qmv.1_Missense_Mutation_p.S803T	p.S803T	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2956	-		Ovarian(120;0.0164)	803			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2408G>C	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139749	0.37728	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.65178	-0.14;-0.14	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095085	0.45361	D	0.000376	T	0.28067	0.0692	N	0.21097	0.63	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.11494	-1.0585	9	.	.	.	.	11.7611	0.51903	0.0:0.0692:0.0:0.9308	.	803	O95835	LATS1_HUMAN	T	803	ENSP00000437550:S803T;ENSP00000253339:S803T	.	S	-	2	0	LATS1	150042889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.147000	0.64851	1.019000	0.39547	-0.360000	0.07572	AGT		0.338	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		14	112	0	0	0	0.001855	0	14	112				
MYCT1	80177	broad.mit.edu	37	6	153019179	153019179	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:153019179A>G	ENST00000367245.5	+	1	150	c.142A>G	c.(142-144)Att>Gtt	p.I48V	MYCT1_ENST00000529453.1_Missense_Mutation_p.I48V	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	48						nucleus (GO:0005634)		p.I48V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCTTGTGGATATTATGGCTAA	0.313																																							uc003qpd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)ATT>GTT		myc target 1							50.0	51.0	50.0					6																	153019179		2203	4294	6497	SO:0001583	missense	80177					nucleus		g.chr6:153019179A>G	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.142A>G	6.37:g.153019179A>G	ENSP00000356214:p.Ile48Val					MYCT1_uc010kjc.1_Missense_Mutation_p.I48V|MYCT1_uc003qpc.3_Missense_Mutation_p.I48V	p.I48V	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	150	+		Ovarian(120;0.0654)	48					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.142A>G	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.55|10.55	1.381411|1.381411	0.24944|0.24944	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245;ENST00000529453	.|T	.|0.30448	.|1.53	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.297237|0.297237	0.24111|0.24111	N|N	0.041457|0.041457	T|T	0.09818|0.09818	0.0241|0.0241	L|L	0.38531|0.38531	1.155|1.155	0.23743|0.23743	N|N	0.996965|0.996965	.|B	.|0.14438	.|0.01	.|B	.|0.12156	.|0.007	T|T	0.11324|0.11324	-1.0592|-1.0592	6|10	.|0.20046	.|T	.|0.44	-9.5802|-9.5802	10.4718|10.4718	0.44642|0.44642	0.9184:0.0:0.0815:0.0|0.9184:0.0:0.0815:0.0	.|.	.|48	.|Q8N699	.|MYCT1_HUMAN	M|V	28|48	.|ENSP00000356214:I48V	.|ENSP00000356214:I48V	I|I	+|+	3|1	3|0	MYCT1|MYCT1	153060872|153060872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.500000|3.500000	0.53318|0.53318	2.127000|2.127000	0.65507|0.65507	0.528000|0.528000	0.53228|0.53228	ATA|ATT		0.313	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		8	57	0	0	0	0.004482	0	8	57				
TIAM2	26230	broad.mit.edu	37	6	155450561	155450561	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:155450561T>A	ENST00000461783.3	+	6	1477	c.204T>A	c.(202-204)ttT>ttA	p.F68L	TIAM2_ENST00000360366.4_Missense_Mutation_p.F68L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F68L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F68L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.F68L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	68					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F68L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTTCTCACTTTAAGAGTAACC	0.547																																							uc003qqb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(202-204)TTT>TTA		T-cell lymphoma invasion and metastasis 2							75.0	70.0	71.0					6																	155450561		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450561T>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.204T>A	6.37:g.155450561T>A	ENSP00000437188:p.Phe68Leu					TIAM2_uc003qqe.2_Missense_Mutation_p.F68L	p.F68L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1477	+		Ovarian(120;0.196)	68					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.204T>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444169	0.63067	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000538270;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05258	3.59;3.47;3.54;3.59;3.6;3.54	5.22	-7.96	0.01144	.	0.233894	0.45606	N	0.000347	T	0.03053	0.0090	M	0.68317	2.08	0.80722	D	1	P	0.49185	0.92	B	0.43508	0.422	T	0.02398	-1.1165	10	0.38643	T	0.18	.	13.2537	0.60066	0.0:0.6403:0.1165:0.2432	.	68	Q8IVF5	TIAM2_HUMAN	L	68;314;68;68;68;68;68;68;68	ENSP00000437188:F68L;ENSP00000434901:F68L;ENSP00000407746:F68L;ENSP00000327315:F68L;ENSP00000353528:F68L;ENSP00000433348:F68L	ENSP00000327315:F68L	F	+	3	2	TIAM2	155492253	0.002000	0.14202	0.466000	0.27168	0.670000	0.39368	-1.363000	0.02592	-1.972000	0.01001	-0.441000	0.05720	TTT		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		23	18	0	0	0	0.003954	0	23	18				
NOX3	50508	broad.mit.edu	37	6	155728268	155728268	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:155728268G>C	ENST00000159060.2	-	12	1678	c.1576C>G	c.(1576-1578)Ccc>Gcc	p.P526A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	526					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.P526A(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCTTACCTGGGGTGATTGTAG	0.488																																							uc003qqm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)CCC>GCC		NADPH oxidase 3							221.0	176.0	191.0					6																	155728268		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155728268G>C	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1576C>G	6.37:g.155728268G>C	ENSP00000159060:p.Pro526Ala						p.P526A	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	12	1679	-		Breast(66;0.0183)	526			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1576C>G	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093178	0.56075	.	.	ENSG00000074771	ENST00000159060	D	0.94931	-3.56	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000003	D	0.96654	0.8908	M	0.72576	2.205	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	D	0.95522	0.8595	10	0.41790	T	0.15	.	19.3973	0.94612	0.0:0.0:1.0:0.0	.	526	Q9HBY0	NOX3_HUMAN	A	526	ENSP00000159060:P526A	ENSP00000159060:P526A	P	-	1	0	NOX3	155769960	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	4.601000	0.61090	2.660000	0.90430	0.655000	0.94253	CCC		0.488	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			27	42	0	0	0	0.008361	0	27	42				
C6orf118	168090	broad.mit.edu	37	6	165715189	165715189	+	Missense_Mutation	SNP	C	C	T	rs376435891		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:165715189C>T	ENST00000230301.8	-	2	642	c.622G>A	c.(622-624)Gga>Aga	p.G208R	C6orf118_ENST00000543069.1_Missense_Mutation_p.G104R	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	208								p.G208R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGGTGGCTCCGGCCAGGTAG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17138	0.0		0.0	False		,,,				2504	0.001						uc003qum.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(622-624)GGA>AGA		hypothetical protein LOC168090		C	ARG/GLY	0,4406		0,0,2203	61.0	61.0	61.0		622	4.1	0.0	6		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf118	NM_144980.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	208/470	165715189	1,13005	2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715189C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.622G>A	6.37:g.165715189C>T	ENSP00000230301:p.Gly208Arg					C6orf118_uc011egi.1_RNA	p.G208R	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	658	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	208					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.622G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979398	0.34942	0.0	1.16E-4	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13778	2.56;2.56	4.92	4.05	0.47172	.	0.269389	0.31648	N	0.007290	T	0.17874	0.0429	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.05632	-1.0873	10	0.66056	D	0.02	.	7.9507	0.30012	0.0:0.7506:0.1616:0.0878	.	208	Q5T5N4	CF118_HUMAN	R	208;104	ENSP00000230301:G208R;ENSP00000439288:G104R	ENSP00000230301:G208R	G	-	1	0	C6orf118	165635179	0.538000	0.26394	0.000000	0.03702	0.002000	0.02628	3.360000	0.52299	1.061000	0.40601	0.591000	0.81541	GGA		0.602	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		35	25	0	0	0	0.003271	0	35	25				
MICALL2	79778	broad.mit.edu	37	7	1474755	1474755	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1474755C>A	ENST00000297508.7	-	16	2795	c.2620G>T	c.(2620-2622)Gac>Tac	p.D874Y	MICALL2_ENST00000471899.1_Intron|MICALL2_ENST00000405088.4_Missense_Mutation_p.D662Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	874	Mediates interaction with RAB13 and is required for transition from the closed to the opened conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.D874Y(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCAATCATGTCCCGCAGCATC	0.647																																							uc003skj.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2620-2622)GAC>TAC		MICAL-like 2 isoform 1							108.0	100.0	102.0					7																	1474755		2202	4299	6501	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1474755C>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2620G>T	7.37:g.1474755C>A	ENSP00000297508:p.Asp874Tyr					MICALL2_uc003skh.3_Intron|MICALL2_uc003ski.3_Missense_Mutation_p.D361Y	p.D874Y	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	16	2767	-		Ovarian(82;0.0253)	874					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2620G>T	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	7.188	0.590949	0.13812	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69926	2.45;-0.44	3.92	-1.61	0.08399	.	1.900900	0.03101	N	0.161021	T	0.64148	0.2572	N	0.19112	0.55	0.09310	N	1	D;P	0.56746	0.977;0.896	P;P	0.56343	0.796;0.678	T	0.56098	-0.8035	10	0.51188	T	0.08	.	7.7058	0.28648	0.163:0.6536:0.0:0.1833	.	874;662	Q8IY33;D3YTD2	MILK2_HUMAN;.	Y	662;874	ENSP00000385928:D662Y;ENSP00000297508:D874Y	ENSP00000297508:D874Y	D	-	1	0	MICALL2	1441281	0.003000	0.15002	0.078000	0.20375	0.019000	0.09904	0.344000	0.19962	-0.415000	0.07484	-0.377000	0.06932	GAC		0.647	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		28	107	1	0	4.2108e-06	0.009535	4.84409e-06	28	107				
INTS1	26173	broad.mit.edu	37	7	1517560	1517560	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1517560A>G	ENST00000404767.3	-	34	4728	c.4643T>C	c.(4642-4644)cTg>cCg	p.L1548P	INTS1_ENST00000389470.4_Missense_Mutation_p.L1747P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1548					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L1747P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCTCGATCAGCCCCTGGAG	0.647																																							uc003skn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4642-4644)CTG>CCG		integrator complex subunit 1							36.0	42.0	40.0					7																	1517560		2064	4157	6221	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1517560A>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4643T>C	7.37:g.1517560A>G	ENSP00000385722:p.Leu1548Pro					INTS1_uc003skm.1_5'Flank	p.L1548P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	34	4744	-		Ovarian(82;0.0253)	1548					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.4643T>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593255	0.46214	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66280	0.04;-0.2	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73547	-0.3948	10	0.72032	D	0.01	.	14.1203	0.65182	1.0:0.0:0.0:0.0	.	1548	Q8N201	INT1_HUMAN	P	1548;1747	ENSP00000385722:L1548P;ENSP00000374121:L1747P	ENSP00000374121:L1747P	L	-	2	0	INTS1	1484086	1.000000	0.71417	0.487000	0.27428	0.063000	0.16089	8.587000	0.90810	1.750000	0.51863	0.459000	0.35465	CTG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	97	0	0	0	0.001168	0	5	97				
INTS1	26173	broad.mit.edu	37	7	1536898	1536898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1536898C>A	ENST00000404767.3	-	11	1563	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	INTS1_ENST00000389470.4_Missense_Mutation_p.R621L|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	493					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.R621L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGCGAGGCCCGCAGGTAGTC	0.652																																							uc003skn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)CGG>CTG		integrator complex subunit 1							43.0	47.0	46.0					7																	1536898		1996	4157	6153	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1536898C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1478G>T	7.37:g.1536898C>A	ENSP00000385722:p.Arg493Leu						p.R493L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	11	1579	-		Ovarian(82;0.0253)	493					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1478G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829013	0.71258	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.56275	2.77;0.47	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76282	-0.3016	10	0.87932	D	0	.	18.9313	0.92566	0.0:1.0:0.0:0.0	.	493	Q8N201	INT1_HUMAN	L	493;621	ENSP00000385722:R493L;ENSP00000374121:R621L	ENSP00000374121:R621L	R	-	2	0	INTS1	1503424	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	7.632000	0.83247	2.471000	0.83476	0.655000	0.94253	CGG		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			9	50	1	0	0.000274275	0.004482	0.000300085	9	50				
MAD1L1	8379	broad.mit.edu	37	7	2255624	2255624	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:2255624C>T	ENST00000406869.1	-	9	1377	c.820G>A	c.(820-822)Gag>Aag	p.E274K	MAD1L1_ENST00000402746.1_Missense_Mutation_p.E182K|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E274K|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E274K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	274					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.E274K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCGTTGGTCTCTCTCATCTCC	0.612																																							uc003slh.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(820-822)GAG>AAG		MAD1-like 1 protein							97.0	115.0	109.0					7																	2255624		2103	4221	6324	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255624C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.820G>A	7.37:g.2255624C>T	ENSP00000385334:p.Glu274Lys					MAD1L1_uc003sle.1_Missense_Mutation_p.E3K|MAD1L1_uc003slf.1_Missense_Mutation_p.E274K|MAD1L1_uc003slg.1_Missense_Mutation_p.E274K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E274K|MAD1L1_uc003sli.1_Missense_Mutation_p.E182K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E227K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E274K	p.E274K	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	9	1086	-		Ovarian(82;0.0272)	274			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.820G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387278	0.61956	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625	T;T;T;T;T;T	0.79653	1.89;1.89;1.89;1.89;-1.29;-1.29	5.16	4.24	0.50183	.	0.053040	0.64402	D	0.000001	D	0.84660	0.5521	L	0.60455	1.87	0.47009	D	0.999287	P;D;D;D	0.76494	0.616;0.999;0.993;0.996	B;D;D;P	0.66716	0.396;0.946;0.946;0.894	T	0.80439	-0.1382	10	0.14656	T	0.56	-19.5716	13.2007	0.59765	0.0:0.8415:0.1585:0.0	.	203;273;182;274	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	K	182;274;274;274;151;203	ENSP00000384155:E182K;ENSP00000382562:E274K;ENSP00000385334:E274K;ENSP00000265854:E274K;ENSP00000401901:E151K;ENSP00000413139:E203K	ENSP00000265854:E274K	E	-	1	0	MAD1L1	2222150	0.999000	0.42202	0.994000	0.49952	0.984000	0.73092	4.542000	0.60677	2.433000	0.82419	0.561000	0.74099	GAG		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		11	133	0	0	0	0.000978	0	11	133				
SNX8	29886	broad.mit.edu	37	7	2303980	2303980	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:2303980C>A	ENST00000222990.3	-	6	777	c.735G>T	c.(733-735)cgG>cgT	p.R245R		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	245					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R245R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGTCGATGGCCCGCGATGCGA	0.577																																							uc003slw.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(733-735)CGG>CGT		sorting nexin 8							84.0	70.0	75.0					7																	2303980		2203	4300	6503	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2303980C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.735G>T	7.37:g.2303980C>A							p.R245R	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	6	778	-		Ovarian(82;0.11)	245					A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.735G>T	CCDS5331.1																																																																																				0.577	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			11	56	1	0	5.16669e-11	0.000978	6.61579e-11	11	56				
FSCN1	6624	broad.mit.edu	37	7	5632887	5632887	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5632887C>A	ENST00000382361.3	+	1	434	c.320C>A	c.(319-321)gCg>gAg	p.A107E	FSCN1_ENST00000340250.6_Missense_Mutation_p.A86E	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	107					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.A107E(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CAGTCCGAGGCGCACCGGCGC	0.697																																							uc003sou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)GCG>GAG		fascin 1							17.0	15.0	16.0					7																	5632887		2191	4284	6475	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5632887C>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.320C>A	7.37:g.5632887C>A	ENSP00000371798:p.Ala107Glu						p.A107E	NM_003088	NP_003079	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	1	434	+		Ovarian(82;0.0694)	107					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.320C>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019203	0.35606	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.24538	1.85;1.85	3.9	0.767	0.18482	Fascin domain (1);Actin cross-linking (1);	0.440032	0.21086	N	0.080410	T	0.12475	0.0303	N	0.11427	0.14	0.38135	D	0.938266	B	0.26577	0.153	B	0.30646	0.118	T	0.09751	-1.0660	10	0.87932	D	0	0.0367	5.058	0.14542	0.1641:0.6423:0.0:0.1936	.	107	Q16658	FSCN1_HUMAN	E	86;107	ENSP00000339729:A86E;ENSP00000371798:A107E	ENSP00000339729:A86E	A	+	2	0	FSCN1	5599413	0.984000	0.35163	0.996000	0.52242	0.997000	0.91878	1.024000	0.30077	0.161000	0.19458	0.462000	0.41574	GCG		0.697	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		10	19	1	0	0.00829132	0.008291	0.00878497	10	19				
RNF216	54476	broad.mit.edu	37	7	5662683	5662684	+	Missense_Mutation	DNP	CG	CG	GC	rs201457738|rs139859373		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5662683_5662684CG>GC	ENST00000425013.2	-	17	2632_2633	c.2408_2409CG>GC	c.(2407-2409)gCG>gGC	p.A803G	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.A860G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	803	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A860G(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGGGTGGGTGCGCGAAGGCATA	0.663																																							uc003soy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2407-2409)GCG>GGC		ring finger protein 216 isoform b																																				SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662683_5662684CG>GC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2408_2409delinsGC	7.37:g.5662683_5662684delinsGC	ENSP00000404602:p.Ala803Gly					RNF216_uc010ksz.1_Missense_Mutation_p.A425G|RNF216_uc010kta.1_Missense_Mutation_p.A425G|RNF216_uc011jwj.1_Missense_Mutation_p.A425G|RNF216_uc003sox.1_Missense_Mutation_p.A860G	p.A803G	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2598_2599	-		Ovarian(82;0.07)	803			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	DNP	ENST00000425013.2	37	c.2408_2409CG>GC	CCDS34595.1																																																																																				0.663	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		47	152	0	0	0	0.004672	0	47	152				
RNF216	54476	broad.mit.edu	37	7	5752387	5752387	+	Silent	SNP	G	G	A	rs200434435		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5752387G>A	ENST00000425013.2	-	12	1994	c.1770C>T	c.(1768-1770)gcC>gcT	p.A590A	RNF216_ENST00000389902.3_Silent_p.A647A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	590					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A647A(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTCCTCCTCGGCTTTTCGCT	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13759	0.0		0.0	False		,,,				2504	0.0						uc003soy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(1768-1770)GCC>GCT		ring finger protein 216 isoform b							60.0	55.0	56.0					7																	5752387		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5752387G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1770C>T	7.37:g.5752387G>A						RNF216_uc010ksz.1_Silent_p.A212A|RNF216_uc010kta.1_Silent_p.A212A|RNF216_uc011jwj.1_Silent_p.A212A|RNF216_uc003sox.1_Silent_p.A647A	p.A590A	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	12	1960	-		Ovarian(82;0.07)	590			IBR-type.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.1770C>T	CCDS34595.1																																																																																				0.562	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		12	44	0	0	0	0.001855	0	12	44				
COL28A1	340267	broad.mit.edu	37	7	7412926	7412926	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:7412926G>C	ENST00000399429.3	-	32	2751	c.2611C>G	c.(2611-2613)Ctg>Gtg	p.L871V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	871	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L871V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTCCCCCAGATACTGCATG	0.478																																							uc003src.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2611-2613)CTG>GTG		collagen, type XXVIII precursor							93.0	88.0	90.0					7																	7412926		2028	4198	6226	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412926G>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2611C>G	7.37:g.7412926G>C	ENSP00000382356:p.Leu871Val					COL28A1_uc011jxe.1_Missense_Mutation_p.L554V	p.L871V	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2728	-		Ovarian(82;0.0789)	871			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2611C>G	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954594	0.53293	.	.	ENSG00000215018	ENST00000399429	T	0.78364	-1.17	4.33	3.42	0.39159	von Willebrand factor, type A (3);	0.114303	0.35436	U	0.003202	T	0.80711	0.4675	M	0.66439	2.03	0.42993	D	0.994496	P	0.51537	0.946	D	0.66497	0.944	T	0.76955	-0.2767	10	0.16896	T	0.51	-4.3478	3.516	0.07725	0.2206:0.2385:0.5409:0.0	.	871	Q2UY09	COSA1_HUMAN	V	871	ENSP00000382356:L871V	ENSP00000382356:L871V	L	-	1	2	COL28A1	7379451	0.558000	0.26554	0.998000	0.56505	0.995000	0.86356	0.447000	0.21710	1.127000	0.42034	0.655000	0.94253	CTG		0.478	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	119	0	0	0	0.000602	0	5	119				
THSD7A	221981	broad.mit.edu	37	7	11418709	11418709	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:11418709G>A	ENST00000423059.4	-	26	5040	c.4789C>T	c.(4789-4791)Cca>Tca	p.P1597S	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1597					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1597S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCCCAAATGGCTGTAGAAAC	0.458										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4789-4791)CCA>TCA		thrombospondin, type I, domain containing 7A							87.0	86.0	87.0					7																	11418709		1878	4110	5988	SO:0001583	missense	221981					integral to membrane		g.chr7:11418709G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4789C>T	7.37:g.11418709G>A	ENSP00000406482:p.Pro1597Ser	HNSCC(18;0.044)				uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.P101S	p.P1597S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	25	5041	-			1597			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.4789C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903476	0.92035	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.79352	-1.26	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64687	0.904;0.928	D	0.86263	0.1656	10	0.54805	T	0.06	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1597;1597	Q9UPZ6;C9JL67	THS7A_HUMAN;.	S	1597	ENSP00000406482:P1597S	ENSP00000262042:P1597S	P	-	1	0	THSD7A	11385234	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.476000	0.97823	2.831000	0.97527	0.650000	0.86243	CCA		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	64	0	0	0	0.000978	0	10	64				
DGKB	1607	broad.mit.edu	37	7	14378256	14378256	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:14378256C>A	ENST00000403951.2	-	23	2428	c.2009G>T	c.(2008-2010)gGa>gTa	p.G670V	DGKB_ENST00000444700.2_Missense_Mutation_p.G651V|DGKB_ENST00000407950.1_Missense_Mutation_p.G662V|DGKB_ENST00000258767.5_Missense_Mutation_p.G670V|DGKB_ENST00000402815.1_Missense_Mutation_p.G669V|DGKB_ENST00000406247.3_Missense_Mutation_p.G670V|DGKB_ENST00000399322.3_Missense_Mutation_p.G670V|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	670					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)	p.G670V(1)		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						AAGATTGGATCCTCCATGCAT	0.403																																							uc003ssz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2008-2010)GGA>GTA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						139.0	125.0	130.0					7																	14378256		1850	4097	5947	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.chr7:14378256C>A	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.2009G>T	7.37:g.14378256C>A	ENSP00000385780:p.Gly670Val					DGKB_uc011jxt.1_Missense_Mutation_p.G651V|DGKB_uc003sta.2_Missense_Mutation_p.G670V|DGKB_uc011jxu.1_Missense_Mutation_p.G669V	p.G670V	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2196	-			670					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2009G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791747	0.90453	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	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	0.94782	0.7954	10	0.87932	D	0	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	669;651;670;670	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	V	670;670;670;669;662;651;670	ENSP00000385780:G670V;ENSP00000382260:G670V;ENSP00000258767:G670V;ENSP00000384909:G669V;ENSP00000385031:G662V;ENSP00000388451:G651V;ENSP00000386066:G670V	ENSP00000258767:G670V	G	-	2	0	DGKB	14344781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.570000	0.86706	0.650000	0.86243	GGA		0.403	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	176	1	0	3.86212e-05	0.008291	4.30661e-05	11	176				
DGKB	1607	broad.mit.edu	37	7	14797349	14797349	+	Silent	SNP	T	T	A	rs368114427		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:14797349T>A	ENST00000403951.2	-	3	497	c.78A>T	c.(76-78)acA>acT	p.T26T	DGKB_ENST00000444700.2_Silent_p.T26T|DGKB_ENST00000407950.1_Silent_p.T26T|DGKB_ENST00000258767.5_Silent_p.T26T|DGKB_ENST00000402815.1_Silent_p.T26T|DGKB_ENST00000406247.3_Silent_p.T26T|DGKB_ENST00000399322.3_Silent_p.T26T|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	26					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)	p.T26T(1)		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						TTAATTTCTTTGTAGAATCTA	0.323																																							uc003ssz.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(76-78)ACA>ACT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						57.0	55.0	56.0					7																	14797349		1797	4064	5861	SO:0001819	synonymous_variant	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.chr7:14797349T>A	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.78A>T	7.37:g.14797349T>A						DGKB_uc011jxt.1_Silent_p.T26T|DGKB_uc003sta.2_Silent_p.T26T|DGKB_uc011jxu.1_Silent_p.T26T|DGKB_uc011jxv.1_Silent_p.T26T	p.T26T	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			2	265	-			26					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.78A>T	CCDS47547.1																																																																																				0.323	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	87	0	0	0	0.000978	0	11	87				
AGMO	392636	broad.mit.edu	37	7	15430530	15430530	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:15430530C>G	ENST00000342526.3	-	7	846	c.677G>C	c.(676-678)gGc>gCc	p.G226A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	226					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.G226A(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACGATTTCTGCCTATGAGACA	0.224																																							uc003stb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GGC>GCC		transmembrane protein 195							24.0	25.0	25.0					7																	15430530		2150	4263	6413	SO:0001630	splice_region_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430530C>G		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.677-1G>C	7.37:g.15430530C>G							p.G226A	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			7	847	-			226					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.677G>C	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765300	0.69878	.	.	ENSG00000187546	ENST00000342526	T	0.29655	1.56	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.31476	0.935	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.05699	-1.0869	10	0.05620	T	0.96	.	18.9343	0.92579	0.0:1.0:0.0:0.0	.	226	Q6ZNB7	ALKMO_HUMAN	A	226	ENSP00000341662:G226A	ENSP00000341662:G226A	G	-	2	0	AGMO	15397055	1.000000	0.71417	0.961000	0.40146	0.914000	0.54420	6.697000	0.74603	2.542000	0.85734	0.591000	0.81541	GGC		0.224	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	Missense_Mutation	13	24	0	0	0	0.004007	0	13	24				
SNX13	23161	broad.mit.edu	37	7	17836494	17836494	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:17836494C>T	ENST00000409389.1	-	25	2787	c.2615G>A	c.(2614-2616)aGa>aAa	p.R872K	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.R861K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	872					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R861K(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TACTCTTGTTCTCATTCGAAT	0.328																																							uc003stw.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(2614-2616)AGA>AAA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							206.0	188.0	194.0					7																	17836494		1837	4097	5934	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17836494C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2615G>A	7.37:g.17836494C>T	ENSP00000386705:p.Arg872Lys					SNX13_uc003stv.2_Missense_Mutation_p.R861K|SNX13_uc010kuc.2_Missense_Mutation_p.R658K|SNX13_uc010kub.2_Missense_Mutation_p.R267K	p.R872K			Q9Y5W8	SNX13_HUMAN			25	2828	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		872					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2615G>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869104	0.91587	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.29655	1.56;1.56	5.41	4.52	0.55395	.	0.040629	0.85682	D	0.000000	T	0.50086	0.1595	M	0.66506	2.035	0.80722	D	1	D;P;D	0.69078	0.997;0.592;0.996	D;B;D	0.65874	0.939;0.444;0.929	T	0.45818	-0.9235	10	0.18710	T	0.47	-12.2318	16.1062	0.81223	0.0:0.866:0.134:0.0	.	658;872;861	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	K	872;861;909	ENSP00000386705:R872K;ENSP00000398789:R861K	ENSP00000242044:R909K	R	-	2	0	SNX13	17803019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	1.254000	0.44035	0.557000	0.71058	AGA		0.328	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		92	168	0	0	0	0.00361	0	92	168				
TMEM196	256130	broad.mit.edu	37	7	19761724	19761724	+	Missense_Mutation	SNP	G	G	T	rs368789087		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:19761724G>T	ENST00000405764.3	-	4	1189	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	TMEM196_ENST00000433641.1_3'UTR|AC004543.1_ENST00000408649.2_RNA|TMEM196_ENST00000422233.1_3'UTR|TMEM196_ENST00000405844.1_3'UTR|TMEM196_ENST00000493519.1_Missense_Mutation_p.Q97K	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	171						integral component of membrane (GO:0016021)		p.Q97K(1)|p.Q165K(1)		breast(1)|large_intestine(1)|lung(4)	6						AATATCAGCTGTGGTCCTCCA	0.318																																							uc011jyg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(493-495)CAG>AAG		transmembrane protein 196							153.0	134.0	141.0					7																	19761724		2202	4300	6502	SO:0001583	missense	256130					integral to membrane		g.chr7:19761724G>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.493C>A	7.37:g.19761724G>T	ENSP00000384234:p.Gln165Lys					TMEM196_uc003sur.2_RNA	p.Q165K	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			4	578	-			171					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.493C>A	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	G	12.07	1.829082	0.32329	.	.	ENSG00000173452	ENST00000405764;ENST00000493519	.	.	.	5.84	4.94	0.65067	.	0.768496	0.12964	N	0.424775	T	0.44932	0.1317	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	9	0.29301	T	0.29	.	15.1217	0.72450	0.0:0.1408:0.8592:0.0	.	165	Q5HYL7-4	.	K	165;97	.	ENSP00000384234:Q165K	Q	-	1	0	TMEM196	19728249	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	5.056000	0.64287	1.432000	0.47375	0.655000	0.94253	CAG		0.318	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		13	128	1	0	1.02788e-11	0.00499	1.33778e-11	13	128				
ITGB8	3696	broad.mit.edu	37	7	20421493	20421493	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:20421493C>T	ENST00000222573.4	+	6	1629	c.945C>T	c.(943-945)gtC>gtT	p.V315V	ITGB8_ENST00000537992.1_Silent_p.V180V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	315	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.V315V(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACGTCTATGTCAAATCGACAA	0.398																																							uc003suu.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(943-945)GTC>GTT		integrin, beta 8 precursor							128.0	111.0	117.0					7																	20421493		2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20421493C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.945C>T	7.37:g.20421493C>T						ITGB8_uc011jyh.1_Silent_p.V180V|ITGB8_uc003sut.2_Silent_p.V315V	p.V315V	NM_002214	NP_002205	P26012	ITB8_HUMAN			6	1650	+			315			VWFA.|Extracellular (Potential).		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.945C>T	CCDS5370.1																																																																																				0.398	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		49	24	0	0	0	0.00361	0	49	24				
ABCB5	340273	broad.mit.edu	37	7	20762679	20762679	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:20762679C>G	ENST00000404938.2	+	21	3114	c.2462C>G	c.(2461-2463)aCt>aGt	p.T821S	ABCB5_ENST00000258738.6_Missense_Mutation_p.T376S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	821	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.T376S(1)|p.T821S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAAAATGCAACTAACATGGGA	0.378																																							uc003suw.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1126-1128)ACT>AGT		ATP-binding cassette, sub-family B, member 5							176.0	171.0	173.0					7																	20762679		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20762679C>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2462C>G	7.37:g.20762679C>G	ENSP00000384881:p.Thr821Ser					ABCB5_uc010kuh.2_Missense_Mutation_p.T821S|ABCB5_uc003sux.1_5'UTR	p.T376S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			12	1673	+			376			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1127C>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227617	0.22542	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.89270	-2.49;-2.49	4.75	2.78	0.32641	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.981557	0.08330	N	0.962448	T	0.79661	0.4484	N	0.20610	0.595	0.23089	N	0.998315	B;B	0.16166	0.016;0.002	B;B	0.21360	0.034;0.006	T	0.65121	-0.6245	10	0.22109	T	0.4	.	6.7831	0.23657	0.0:0.5628:0.3431:0.0941	.	821;376	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	821;376	ENSP00000384881:T821S;ENSP00000258738:T376S	ENSP00000258738:T376S	T	+	2	0	ABCB5	20729204	0.665000	0.27466	0.993000	0.49108	0.975000	0.68041	1.593000	0.36686	1.337000	0.45525	0.655000	0.94253	ACT		0.378	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		11	142	0	0	0	0.001855	0	11	142				
HOXA9	3205	broad.mit.edu	37	7	27203226	27203226	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:27203226T>C	ENST00000343483.6	-	2	887	c.815A>G	c.(814-816)gAg>gGg	p.E272G	RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E112G	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	272					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)	p.E272G(1)		central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						ATGGCATCACTCGTCTTTTGC	0.493			T	"""NUP98, MSI2"""	AML*																																		uc003syt.2		NA		Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	NUP98|MSI2		AML*		1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(814-816)GAG>GGG		homeobox A9							219.0	228.0	225.0					7																	27203226		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203226T>C		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.815A>G	7.37:g.27203226T>C	ENSP00000343619:p.Glu272Gly						p.E272G	NM_152739	NP_689952	P31269	HXA9_HUMAN			2	888	-			272					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.815A>G	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280602	0.80692	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.94650	-3.27;-3.48	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000009	D	0.94272	0.8160	L	0.60455	1.87	0.80722	D	1	P	0.42203	0.773	P	0.46543	0.52	D	0.94770	0.7944	10	0.72032	D	0.01	.	14.5807	0.68288	0.0:0.0:0.0:1.0	.	272	P31269	HXA9_HUMAN	G	272;196;263;112	ENSP00000343619:E272G;ENSP00000421799:E112G	ENSP00000242050:E263G	E	-	2	0	RP1-170O19.20;HOXA9	27169751	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.269000	0.72558	2.120000	0.65058	0.459000	0.35465	GAG		0.493	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			106	147	0	0	0	0.00361	0	106	147				
TBX20	57057	broad.mit.edu	37	7	35288379	35288379	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:35288379A>G	ENST00000408931.3	-	3	981	c.455T>C	c.(454-456)aTc>aCc	p.I152T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	152			I -> M (in ASD4). {ECO:0000269|PubMed:17668378}.		aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I152T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CACAGGGACGATGTCCATCAG	0.597																																							uc011kas.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(454-456)ATC>ACC		T-box transcription factor TBX20							105.0	95.0	98.0					7																	35288379		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35288379A>G	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.455T>C	7.37:g.35288379A>G	ENSP00000386170:p.Ile152Thr						p.I152T	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			3	466	-			152		I -> M (in ASD4).	T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.455T>C	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846855	0.91277	.	.	ENSG00000164532	ENST00000408931	D	0.91295	-2.82	5.87	5.87	0.94306	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	M	0.91872	3.25	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97069	0.9776	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	152	Q9UMR3	TBX20_HUMAN	T	152	ENSP00000386170:I152T	ENSP00000386170:I152T	I	-	2	0	TBX20	35254904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATC		0.597	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		36	39	0	0	0	0.003271	0	36	39				
Unknown	0	broad.mit.edu	37	7	39873503	39873503	+	IGR	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:39873503C>A								LINC00265 (40812 upstream) : RN7SL496P (54468 downstream)																							CGATGGGATGCCGGGAGGCCC	0.592																																							uc010kxp.2		NA																	0					NA						c.(334-336)CCG>ACG		SubName: Full=Similar to sequence-specific single-stranded-DNA-binding protein;																																				SO:0001628	intergenic_variant	0							g.chr7:39873503C>A																													7.37:g.39873503C>A							p.P112T							1	691	+									Missense_Mutation	SNP		37	c.334C>A																																																																																				0	0.592									19	23	1	0	8.34094e-07	0.008871	9.72366e-07	19	23				
MYL7	58498	broad.mit.edu	37	7	44180373	44180373	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:44180373A>T	ENST00000223364.3	-	3	157	c.131T>A	c.(130-132)aTc>aAc	p.I44N	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.I17N	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.I44N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						ATTCTGGTCGATACAGCTGAA	0.647																																							uc003tkg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)ATC>AAC		myosin light chain 2a							48.0	40.0	43.0					7																	44180373		2203	4299	6502	SO:0001583	missense	58498				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	g.chr7:44180373A>T	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.131T>A	7.37:g.44180373A>T	ENSP00000223364:p.Ile44Asn						p.I44N	NM_021223	NP_067046	Q01449	MLRA_HUMAN			3	143	-			44			EF-hand 1.		B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	c.131T>A	CCDS5478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.405634|4.405634	0.83230|0.83230	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;T;T;T|.	0.72725|.	-0.68;-0.68;-0.68;0.67|.	4.91|4.91	4.91|4.91	0.64330|0.64330	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85596|.	0.5733|.	H|H	0.94620|0.94620	3.56|3.56	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.85130|.	0.997|.	D|.	0.89549|.	0.3798|.	10|.	0.87932|.	D|.	0|.	.|.	13.4982|13.4982	0.61438|0.61438	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	44|.	Q01449|.	MLRA_HUMAN|.	N|X	44;17;66;43|56	ENSP00000223364:I44N;ENSP00000403360:I17N;ENSP00000389202:I66N;ENSP00000403988:I43N|.	ENSP00000223364:I44N|.	I|Y	-|-	2|3	0|2	MYL7|MYL7	44146898|44146898	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.963000|0.963000	0.63663|0.63663	8.253000|8.253000	0.89842|0.89842	1.847000|1.847000	0.53656|0.53656	0.523000|0.523000	0.50628|0.50628	ATC|TAT		0.647	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		8	14	0	0	0	0.008291	0	8	14				
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	T	rs148252365		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:47882629C>T	ENST00000289672.2	-	34	5426	c.5376G>A	c.(5374-5376)ctG>ctA	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L1792L(3)	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						GATGGCCCGGCAGGGAAGCTT	0.468																																							uc003tny.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5374-5376)CTG>CTA		polycystin-1L1							60.0	61.0	60.0					7																	47882629		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47882629C>T	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.5376G>A	7.37:g.47882629C>T							p.L1792L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			34	5376	-			1792			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5376G>A	CCDS34633.1																																																																																				0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	57	0	0	0	0.006214	0	10	57				
ABCA13	154664	broad.mit.edu	37	7	48319268	48319268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:48319268G>A	ENST00000435803.1	+	18	8501	c.8477G>A	c.(8476-8478)tGg>tAg	p.W2826*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2826					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W2826*(1)|p.W2771*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATAGCTCTCTGGAGGAAAGGA	0.333																																							uc003toq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(8476-8478)TGG>TAG		ATP binding cassette, sub-family A (ABC1),							82.0	84.0	84.0					7																	48319268		1820	4076	5896	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319268G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8477G>A	7.37:g.48319268G>A	ENSP00000411096:p.Trp2826*					ABCA13_uc010kys.1_5'Flank	p.W2826*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	8502	+			2826					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.8477G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	48	14.097901	0.99779	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.29	-1.29	0.09288	.	1.372950	0.05092	N	0.485365	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.19	0.20518	0.0:0.3036:0.4045:0.2919	.	.	.	.	X	2826	.	ENSP00000411096:W2826X	W	+	2	0	ABCA13	48289814	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.012000	0.13287	-0.186000	0.10533	0.650000	0.86243	TGG		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		60	97	0	0	0	0.00361	0	60	97				
POM121L12	285877	broad.mit.edu	37	7	53104131	53104131	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:53104131T>A	ENST00000408890.4	+	1	783	c.767T>A	c.(766-768)cTg>cAg	p.L256Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	256								p.L256Q(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTTCCGTGCTGGTCCAGCCC	0.647																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(766-768)CTG>CAG		POM121 membrane glycoprotein-like 12							50.0	57.0	55.0					7																	53104131		2019	4173	6192	SO:0001583	missense	285877							g.chr7:53104131T>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.767T>A	7.37:g.53104131T>A	ENSP00000386133:p.Leu256Gln						p.L256Q	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	783	+			256					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.767T>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.465349	0.26335	.	.	ENSG00000221900	ENST00000408890	T	0.34859	1.34	1.9	0.719	0.18208	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15983	-1.0418	9	0.23302	T	0.38	.	3.6739	0.08284	0.0:0.2039:0.0:0.7961	.	256	Q8N7R1	P1L12_HUMAN	Q	256	ENSP00000386133:L256Q	ENSP00000386133:L256Q	L	+	2	0	POM121L12	53071625	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-3.521000	0.00443	0.210000	0.20664	0.260000	0.18958	CTG		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	61	0	0	0	0.006214	0	10	61				
ZNF716	441234	broad.mit.edu	37	7	57528880	57528880	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:57528880A>T	ENST00000420713.1	+	4	825	c.713A>T	c.(712-714)gAg>gTg	p.E238V		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E238V(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATACTGGAGAGAAACCCTAC	0.378																																							uc011kdi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(712-714)GAG>GTG		zinc finger protein 716							28.0	27.0	27.0					7																	57528880		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528880A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.713A>T	7.37:g.57528880A>T	ENSP00000394248:p.Glu238Val						p.E238V	NM_001159279	NP_001152751					4	825	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.713A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885649	0.33255	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.26810	1.71	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.64630	1.985	0.31330	N	0.684921	D	0.76494	0.999	D	0.85130	0.997	T	0.42515	-0.9447	9	0.56958	D	0.05	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	226	A6NP11	ZN716_HUMAN	V	238;226	ENSP00000394248:E238V	ENSP00000387687:E226V	E	+	2	0	ZNF716	57532822	1.000000	0.71417	0.122000	0.21767	0.121000	0.20230	2.647000	0.46639	0.257000	0.21650	0.254000	0.18369	GAG		0.378	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	9	0	0	0	0.004482	0	8	9				
WBSCR28	135886	broad.mit.edu	37	7	73275552	73275552	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:73275552A>T	ENST00000320531.2	+	1	64	c.28A>T	c.(28-30)Agc>Tgc	p.S10C		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	10						integral component of membrane (GO:0016021)		p.S10C(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGTCAGATCCAGCCTTTTGGG	0.622																																							uc003tzk.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(28-30)AGC>TGC		hypothetical protein LOC135886							55.0	53.0	54.0					7																	73275552		1911	4121	6032	SO:0001583	missense	135886					integral to membrane		g.chr7:73275552A>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.28A>T	7.37:g.73275552A>T	ENSP00000316775:p.Ser10Cys					RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	p.S10C	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			1	64	+		Lung NSC(55;0.159)	10					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.28A>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	A	1.122	-0.655036	0.03480	.	.	ENSG00000175877	ENST00000320531	T	0.24350	1.86	4.21	-2.7	0.06004	.	0.329132	0.22355	N	0.061156	T	0.26629	0.0651	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.13737	-1.0498	10	0.66056	D	0.02	-6.2243	5.3937	0.16257	0.377:0.1754:0.4476:0.0	.	10	Q6UE05	WBS28_HUMAN	C	10	ENSP00000316775:S10C	ENSP00000316775:S10C	S	+	1	0	WBSCR28	72913488	0.072000	0.21174	0.011000	0.14972	0.038000	0.13279	0.140000	0.16056	-0.558000	0.06118	-0.256000	0.11100	AGC		0.622	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		13	30	0	0	0	0.004007	0	13	30				
GTF2IRD1	9569	broad.mit.edu	37	7	74004251	74004251	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:74004251A>T	ENST00000265755.3	+	23	2830	c.2437A>T	c.(2437-2439)Aaa>Taa	p.K813*	GTF2IRD1_ENST00000455841.2_Nonsense_Mutation_p.K830*|GTF2IRD1_ENST00000424337.2_Nonsense_Mutation_p.K798*|GTF2IRD1_ENST00000476977.1_Nonsense_Mutation_p.K798*	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	813					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K813*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCAACGAGAAATACGGTCA	0.607																																							uc003uaq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(2437-2439)AAA>TAA		GTF2I repeat domain containing 1 isoform 1							77.0	63.0	68.0					7																	74004251		2203	4300	6503	SO:0001587	stop_gained	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74004251A>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2437A>T	7.37:g.74004251A>T	ENSP00000265755:p.Lys813*					GTF2IRD1_uc010lbq.2_Nonsense_Mutation_p.K830*|GTF2IRD1_uc003uap.2_Nonsense_Mutation_p.K798*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.K798*	p.K813*	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			23	2830	+			813			GTF2I-like 5.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Nonsense_Mutation	SNP	ENST00000265755.3	37	c.2437A>T	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	53|53	20.783196|20.783196	0.99934|0.99934	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T|.	0.44083|.	0.93|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34019|.	0.0883|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35919|.	-0.9769|.	5|.	0.29301|0.02654	T|T	0.29|1	-14.3399|-14.3399	13.0873|13.0873	0.59149|0.59149	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	175|813;830;798;798	ENSP00000417909:E175V|.	ENSP00000417909:E175V|ENSP00000265755:K813X	E|K	+|+	2|1	0|0	GTF2IRD1|GTF2IRD1	73642187|73642187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.762000|7.762000	0.85270|0.85270	2.042000|2.042000	0.60477|0.60477	0.454000|0.454000	0.30748|0.30748	GAA|AAA		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		3	24	0	0	0	0.004672	0	3	24				
HGF	3082	broad.mit.edu	37	7	81381537	81381537	+	Missense_Mutation	SNP	T	T	C	rs73381183		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:81381537T>C	ENST00000222390.5	-	5	750	c.524A>G	c.(523-525)aAc>aGc	p.N175S	HGF_ENST00000453411.1_Missense_Mutation_p.N170S|HGF_ENST00000457544.2_Missense_Mutation_p.N170S|HGF_ENST00000423064.2_Missense_Mutation_p.N175S|HGF_ENST00000444829.2_Missense_Mutation_p.N175S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	175	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.N175S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGACAGTAGTTTTCCTGTAG	0.423													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16631	0.0		0.0	False		,,,				2504	0.0						uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(523-525)AAC>AGC		hepatocyte growth factor isoform 1							125.0	113.0	117.0					7																	81381537		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381537T>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.524A>G	7.37:g.81381537T>C	ENSP00000222390:p.Asn175Ser					HGF_uc003uhm.2_Missense_Mutation_p.N170S|HGF_uc003uhn.1_Missense_Mutation_p.N175S|HGF_uc003uho.1_Missense_Mutation_p.N170S|HGF_uc003uhp.2_Missense_Mutation_p.N175S	p.N175S	NM_000601	NP_000592	P14210	HGF_HUMAN			5	689	-			175			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.524A>G	CCDS5597.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	27.0	4.786850	0.90367	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.997	D;D;D;D;D	0.91635	0.982;0.999;0.997;0.994;0.992	D	0.87638	0.2520	10	0.62326	D	0.03	.	16.4216	0.83760	0.0:0.0:0.0:1.0	.	210;170;175;170;175	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	S	175;170;175;170;175;175	ENSP00000222390:N175S;ENSP00000391238:N170S;ENSP00000389854:N175S;ENSP00000408270:N170S;ENSP00000413829:N175S	ENSP00000222390:N175S	N	-	2	0	HGF	81219473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.285000	0.76669	0.533000	0.62120	AAC		0.423	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		28	50	0	0	0	0.007291	0	28	50				
GRM3	2913	broad.mit.edu	37	7	86415918	86415918	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:86415918C>G	ENST00000361669.2	+	3	1909	c.810C>G	c.(808-810)cgC>cgG	p.R270R	AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.R268R|GRM3_ENST00000439827.1_Silent_p.R270R|GRM3_ENST00000536043.1_Silent_p.R142R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	270					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R270R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAACGCGCGCGTCGTGGTCC	0.652																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(808-810)CGC>CGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						45.0	50.0	48.0					7																	86415918		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415918C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.810C>G	7.37:g.86415918C>G						GRM3_uc010lef.2_Silent_p.R268R|GRM3_uc010leg.2_Silent_p.R142R|GRM3_uc010leh.2_Intron	p.R270R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1909	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		270			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.810C>G	CCDS5600.1																																																																																				0.652	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			15	59	0	0	0	0.003163	0	15	59				
ABCB1	5243	broad.mit.edu	37	7	87179246	87179246	+	Missense_Mutation	SNP	C	C	A	rs199941458		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:87179246C>A	ENST00000265724.3	-	14	1892	c.1475G>T	c.(1474-1476)cGt>cTt	p.R492L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R428L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	492	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R492L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GACATTTTCACGGCCATAGCG	0.438																																							uc003uiz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1474-1476)CGT>CTT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						247.0	230.0	236.0					7																	87179246		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179246C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1475G>T	7.37:g.87179246C>A	ENSP00000265724:p.Arg492Leu					ABCB1_uc011khc.1_Missense_Mutation_p.R428L	p.R492L	NM_000927	NP_000918	P08183	MDR1_HUMAN			14	1893	-	Esophageal squamous(14;0.00164)		492			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1475G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426083	0.62733	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90324	-2.65;-2.65	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.108244	0.64402	D	0.000005	D	0.91703	0.7377	L	0.28504	0.86	0.80722	D	1	P;D	0.67145	0.735;0.996	B;P	0.57283	0.14;0.817	D	0.91573	0.5273	10	0.59425	D	0.04	-4.723	20.8598	0.99761	0.0:1.0:0.0:0.0	.	428;492	B5AK60;P08183	.;MDR1_HUMAN	L	273;492;428	ENSP00000265724:R492L;ENSP00000444095:R428L	ENSP00000265724:R492L	R	-	2	0	ABCB1	87017182	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	4.981000	0.63819	2.937000	0.99478	0.650000	0.86243	CGT		0.438	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		80	183	1	0	2.17451e-35	0.00361	3.4227e-35	80	183				
AKAP9	10142	broad.mit.edu	37	7	91691630	91691630	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:91691630G>T	ENST00000359028.2	+	25	6068	c.5843G>T	c.(5842-5844)aGg>aTg	p.R1948M	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1936M|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1948M|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1948	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R1936M(1)|p.R1948M(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTTTTGAAAGGCAAATTCAG	0.348			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5806-5808)AGG>ATG		A-kinase anchor protein 9 isoform 2							106.0	117.0	113.0					7																	91691630		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691630G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5843G>T	7.37:g.91691630G>T	ENSP00000351922:p.Arg1948Met					AKAP9_uc003ulf.2_Missense_Mutation_p.R1936M|AKAP9_uc003uli.2_Missense_Mutation_p.R1559M	p.R1936M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	6032	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1948			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5807G>T		.	.	.	.	.	.	.	.	.	.	G	16.30	3.084226	0.55861	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03386	3.96;3.96;3.95	5.63	4.74	0.60224	.	0.148340	0.31772	N	0.007085	T	0.09555	0.0235	M	0.65975	2.015	0.30421	N	0.778153	P;P;P	0.52692	0.924;0.955;0.955	P;P;P	0.53360	0.533;0.724;0.724	T	0.03043	-1.1079	10	0.72032	D	0.01	.	7.3451	0.26658	0.2843:0.0:0.7157:0.0	.	1948;1936;1936	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	M	1936;1948;1948;1948;151	ENSP00000348573:R1936M;ENSP00000351922:R1948M;ENSP00000350813:R1948M	ENSP00000265737:R151M	R	+	2	0	AKAP9	91529566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.827000	0.48112	1.485000	0.48380	0.655000	0.94253	AGG		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	119	1	0	1.45105e-14	0.006122	1.97706e-14	18	119				
CDK6	1021	broad.mit.edu	37	7	92244466	92244466	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:92244466C>T	ENST00000265734.4	-	8	1380	c.969G>A	c.(967-969)ctG>ctA	p.L323L	CDK6_ENST00000424848.2_Silent_p.L323L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	323					astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L323L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGGCTGTATTCAGCTCCGAGG	0.587			T	MLLT10	ALL																																		uc011khw.1		NA		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(967-969)CTG>CTA		cyclin-dependent kinase 6							75.0	67.0	70.0					7																	92244466		2203	4300	6503	SO:0001819	synonymous_variant	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92244466C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.969G>A	7.37:g.92244466C>T						CDK6_uc010lez.2_Silent_p.L323L	p.L323L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		8	1381	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		323					A4D1G0	Silent	SNP	ENST00000265734.4	37	c.969G>A	CCDS5628.1																																																																																				0.587	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			12	33	0	0	0	0.001368	0	12	33				
COL1A2	1278	broad.mit.edu	37	7	94039100	94039100	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:94039100T>C	ENST00000297268.6	+	19	1473	c.1002T>C	c.(1000-1002)ggT>ggC	p.G334G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	334			G -> C (in OI2).		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G334G(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCCCTGTTGGTGCTGCCGGTG	0.567										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1000-1002)GGT>GGC		alpha 2 type I collagen precursor	Collagenase(DB00048)						108.0	103.0	105.0					7																	94039100		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039100T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1002T>C	7.37:g.94039100T>C		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G334G	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1473	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		334		G -> C (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.1002T>C	CCDS34682.1																																																																																				0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		13	64	0	0	0	0.001368	0	13	64				
TECPR1	25851	broad.mit.edu	37	7	97862145	97862145	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:97862145C>G	ENST00000447648.2	-	12	2111	c.1812G>C	c.(1810-1812)gtG>gtC	p.V604V	TECPR1_ENST00000542604.1_Silent_p.V534V|TECPR1_ENST00000379795.3_Silent_p.V605V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	604					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V604V(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACCTGCTCCACGGCCTGCT	0.567																																							uc003upg.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1810-1812)GTG>GTC		tectonin beta-propeller repeat containing 1							34.0	37.0	36.0					7																	97862145		2097	4226	6323	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97862145C>G		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1812G>C	7.37:g.97862145C>G						TECPR1_uc003uph.1_Silent_p.V534V	p.V604V	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			12	2017	-			604					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.1812G>C	CCDS47648.1																																																																																				0.567	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		7	11	0	0	0	0.001984	0	7	11				
ARPC1B	10095	broad.mit.edu	37	7	98985702	98985702	+	Nonsense_Mutation	SNP	C	C	A	rs374160496		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:98985702C>A	ENST00000451682.1	+	6	519	c.210C>A	c.(208-210)tgC>tgA	p.C70*	ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Nonsense_Mutation_p.C70*			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	70					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)	p.C70*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGACCTGCGGCACAGACC	0.642																																							uc003upz.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(208-210)TGC>TGA		actin related protein 2/3 complex subunit 1B							73.0	73.0	73.0					7																	98985702		2203	4300	6503	SO:0001587	stop_gained	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98985702C>A	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.210C>A	7.37:g.98985702C>A	ENSP00000389631:p.Cys70*					ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqb.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqc.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqd.2_5'Flank	p.C70*	NM_005720	NP_005711	O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	299	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		70			WD 2.		Q9BU00	Nonsense_Mutation	SNP	ENST00000451682.1	37	c.210C>A	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187077	0.57909	.	.	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	.	.	.	5.39	-1.11	0.09840	.	0.042778	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.1052	7.4501	0.27234	0.0:0.4217:0.1093:0.4689	.	.	.	.	X	70	.	ENSP00000252725:C70X	C	+	3	2	ARPC1B	98823638	0.000000	0.05858	0.995000	0.50966	0.618000	0.37518	-2.376000	0.01070	-0.116000	0.11893	-1.090000	0.02178	TGC		0.642	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		16	55	1	0	3.45872e-05	0.004007	3.8816e-05	16	55				
GAL3ST4	79690	broad.mit.edu	37	7	99757918	99757918	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:99757918A>T	ENST00000360039.4	-	4	1486	c.1094T>A	c.(1093-1095)cTg>cAg	p.L365Q	GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L303Q|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L365Q|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	365					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.L365Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCCAGTCCAGGTTGTTCCA	0.637																																							uc003utt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1093-1095)CTG>CAG		galactose-3-O-sulfotransferase 4							52.0	55.0	54.0					7																	99757918		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757918A>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1094T>A	7.37:g.99757918A>T	ENSP00000353142:p.Leu365Gln					C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.L365Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.L303Q	p.L365Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2111	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		365			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1094T>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898038	0.72639	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.27720	1.65;1.65;1.65	5.12	5.12	0.69794	.	0.000000	0.52532	U	0.000065	T	0.53594	0.1806	M	0.78456	2.415	0.42229	D	0.991886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52638	-0.8549	10	0.23891	T	0.37	-4.9918	12.9182	0.58216	1.0:0.0:0.0:0.0	.	303;365	B4DWL8;Q96RP7	.;G3ST4_HUMAN	Q	365;365;303	ENSP00000400451:L365Q;ENSP00000353142:L365Q;ENSP00000398304:L303Q	ENSP00000353142:L365Q	L	-	2	0	GAL3ST4	99595854	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	6.076000	0.71267	2.156000	0.67533	0.418000	0.28097	CTG		0.637	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		5	67	0	0	0	0.001168	0	5	67				
TSC22D4	81628	broad.mit.edu	37	7	100071909	100071909	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:100071909C>T	ENST00000300181.2	-	3	1671	c.917G>A	c.(916-918)aGc>aAc	p.S306N	TSC22D4_ENST00000393991.1_Missense_Mutation_p.S67N|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	306					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S306N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCATCGTCGCTGTCTAGGTG	0.607																																							uc003uva.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(916-918)AGC>AAC		TSC22 domain family, member 4							87.0	69.0	75.0					7																	100071909		2203	4300	6503	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100071909C>T	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.917G>A	7.37:g.100071909C>T	ENSP00000300181:p.Ser306Asn					TSC22D4_uc003uvb.2_Missense_Mutation_p.S67N|TSC22D4_uc011kjv.1_Missense_Mutation_p.S67N|TSC22D4_uc010lgx.2_Missense_Mutation_p.S306N|TSC22D4_uc003uvc.3_Missense_Mutation_p.S306N	p.S306N	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN			3	1672	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		306					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.917G>A	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591310	0.46214	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	4.75	3.84	0.44239	.	0.113823	0.39834	N	0.001259	T	0.28896	0.0717	N	0.24115	0.695	0.26208	N	0.979344	B;B	0.34290	0.447;0.18	B;B	0.37451	0.25;0.056	T	0.14035	-1.0487	9	0.19590	T	0.45	-12.9856	10.8167	0.46580	0.0:0.8078:0.1921:0.0	.	306;306	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	N	306;67	.	ENSP00000300181:S306N	S	-	2	0	TSC22D4	99909845	0.992000	0.36948	0.995000	0.50966	0.856000	0.48823	2.442000	0.44873	0.972000	0.38314	0.555000	0.69702	AGC		0.607	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		5	56	0	0	0	0.000602	0	5	56				
SLC12A9	56996	broad.mit.edu	37	7	100451828	100451828	+	Missense_Mutation	SNP	C	C	A	rs145131568		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:100451828C>A	ENST00000354161.3	+	2	134	c.9C>A	c.(7-9)agC>agA	p.S3R	SLC12A9_ENST00000428758.1_Missense_Mutation_p.S3R|SLC12A9_ENST00000540482.1_Missense_Mutation_p.S3R|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Missense_Mutation_p.S3R|SLC12A9_ENST00000275729.3_Missense_Mutation_p.S3R	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	3					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.S3R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATGGCCAGCGAGAGCTCAC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13804	0.0		0.0	False		,,,				2504	0.0						uc003uwp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)AGC>AGA		solute carrier family 12 (potassium/chloride		C	ARG/SER	1,4403		0,1,2201	30.0	34.0	32.0		9	-8.4	0.4	7	dbSNP_134	32	0,8598		0,0,4299	no	missense	SLC12A9	NM_020246.2	110	0,1,6500	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	3/915	100451828	1,13001	2202	4299	6501	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451828C>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.9C>A	7.37:g.100451828C>A	ENSP00000275730:p.Ser3Arg					SLC12A9_uc003uwo.1_Missense_Mutation_p.S3R|SLC12A9_uc003uwq.2_Missense_Mutation_p.S3R|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	p.S3R	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			2	151	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		3			Cytoplasmic (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.9C>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935420	0.52866	2.27E-4	0.0	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	D;D;D;D;D;D;D	0.96136	-2.62;-2.62;-2.51;-2.51;-2.89;-2.42;-3.92	4.53	-8.44	0.00950	.	0.057754	0.64402	D	0.000002	D	0.90349	0.6980	L	0.47716	1.5	0.24359	N	0.994888	B;B	0.27498	0.095;0.18	B;B	0.23275	0.041;0.045	T	0.71314	-0.4630	10	0.87932	D	0	.	14.1362	0.65289	0.1118:0.7174:0.0:0.1709	.	3;3	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	R	3	ENSP00000443702:S3R;ENSP00000408301:S3R;ENSP00000275729:S3R;ENSP00000413796:S3R;ENSP00000275730:S3R;ENSP00000410692:S3R;ENSP00000408571:S3R	ENSP00000275729:S3R	S	+	3	2	SLC12A9	100289764	0.000000	0.05858	0.443000	0.26883	0.649000	0.38597	-4.952000	0.00166	-2.323000	0.00639	-1.478000	0.00992	AGC		0.637	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		19	43	1	0	8.10497e-08	0.010504	9.72151e-08	19	43				
PIK3CG	5294	broad.mit.edu	37	7	106508033	106508033	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:106508033C>A	ENST00000359195.3	+	2	337	c.27C>A	c.(25-27)ccC>ccA	p.P9P	PIK3CG_ENST00000496166.1_Silent_p.P9P|PIK3CG_ENST00000440650.2_Silent_p.P9P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	9					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)	p.P9P(1)		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						ATAAACAGCCCGTGGTGCTGA	0.582																																							uc003vdv.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(25-27)CCC>CCA		phosphoinositide-3-kinase, catalytic, gamma							46.0	53.0	50.0					7																	106508033		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.chr7:106508033C>A		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.27C>A	7.37:g.106508033C>A						PIK3CG_uc003vdu.2_Silent_p.P9P|PIK3CG_uc003vdw.2_Silent_p.P9P	p.P9P	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	112	+			9					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.27C>A	CCDS5739.1																																																																																				0.582	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			16	69	1	0	3.99206e-14	0.007413	5.4138e-14	16	69				
PNPLA8	50640	broad.mit.edu	37	7	108155042	108155042	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:108155042T>A	ENST00000422087.1	-	4	1300	c.894A>T	c.(892-894)gtA>gtT	p.V298V	PNPLA8_ENST00000436062.1_Silent_p.V298V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000426128.2_Silent_p.V298V|PNPLA8_ENST00000257694.8_Silent_p.V298V|PNPLA8_ENST00000453144.1_Silent_p.V198V|PNPLA8_ENST00000388728.5_Silent_p.V298V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	298					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.V298V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTAAAGCTTGTACACCTTCCG	0.418																																							uc003vff.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(892-894)GTA>GTT		patatin-like phospholipase domain containing 8							132.0	131.0	131.0					7																	108155042		2203	4300	6503	SO:0001819	synonymous_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155042T>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.894A>T	7.37:g.108155042T>A						PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Silent_p.V298V|PNPLA8_uc003vfi.1_Silent_p.V198V|PNPLA8_uc003vfj.1_Silent_p.V298V|PNPLA8_uc003vfk.1_Silent_p.V198V	p.V298V	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			4	1301	-			298					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	c.894A>T	CCDS34733.1																																																																																				0.418	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		28	94	0	0	0	0.005443	0	28	94				
PPP1R3A	5506	broad.mit.edu	37	7	113518241	113518241	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:113518241G>T	ENST00000284601.3	-	4	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	969					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.P969H(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTAGACTCAGGATAAGGGTG	0.378																																							uc010ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2905-2907)CCT>CAT		protein phosphatase 1, regulatory (inhibitor)							91.0	90.0	90.0					7																	113518241		2202	4298	6500	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518241G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2906C>A	7.37:g.113518241G>T	ENSP00000284601:p.Pro969His						p.P969H	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2937	-			969					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2906C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	7.097	0.573227	0.13623	.	.	ENSG00000154415	ENST00000284601	T	0.19394	2.15	5.71	3.91	0.45181	.	0.291361	0.30028	N	0.010588	T	0.33352	0.0860	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.13045	-1.0524	10	0.87932	D	0	0.1639	9.0383	0.36302	0.2252:0.0:0.7748:0.0	.	969	Q16821	PPR3A_HUMAN	H	969	ENSP00000284601:P969H	ENSP00000284601:P969H	P	-	2	0	PPP1R3A	113305477	0.037000	0.19845	0.001000	0.08648	0.030000	0.12068	1.972000	0.40540	0.761000	0.33130	0.650000	0.86243	CCT		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		39	82	1	0	8.69298e-16	0.006999	1.21284e-15	39	82				
ANKRD7	56311	broad.mit.edu	37	7	117876164	117876164	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:117876164A>T	ENST00000265224.4	+	4	693	c.538A>T	c.(538-540)Aaa>Taa	p.K180*	ANKRD7_ENST00000357099.4_Nonsense_Mutation_p.K200*|ANKRD7_ENST00000433239.1_Nonsense_Mutation_p.K127*|ANKRD7_ENST00000417525.1_Nonsense_Mutation_p.K127*|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	180					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.K200*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TCTTCTGGAGAAAGGGGCTGA	0.299																																							uc003vji.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(538-540)AAA>TAA		ankyrin repeat domain 7							73.0	76.0	75.0					7																	117876164		1804	4081	5885	SO:0001587	stop_gained	56311				male gonad development			g.chr7:117876164A>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.538A>T	7.37:g.117876164A>T	ENSP00000265224:p.Lys180*						p.K180*	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			4	711	+			180			ANK 4.		B4DYF5|Q96QN1|Q9UDM3	Nonsense_Mutation	SNP	ENST00000265224.4	37	c.538A>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164601	0.78339	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	.	.	.	5.3	5.3	0.74995	.	0.251125	0.27876	N	0.017484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-4.9985	6.6003	0.22697	0.7644:0.1565:0.0791:0.0	.	.	.	.	X	200;180;127;127	.	ENSP00000265224:K180X	K	+	1	0	ANKRD7	117663400	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	3.507000	0.53371	2.142000	0.66516	0.402000	0.26972	AAA		0.299	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		43	87	0	0	0	0.00361	0	43	87				
PTPRZ1	5803	broad.mit.edu	37	7	121624102	121624102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:121624102G>T	ENST00000393386.2	+	8	1270	c.859G>T	c.(859-861)Gag>Tag	p.E287*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E287*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	287	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E287*(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATTTTCGAGAGCAACAGTA	0.343																																							uc003vjy.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(859-861)GAG>TAG		protein tyrosine phosphatase, receptor-type,							158.0	153.0	155.0					7																	121624102		2203	4299	6502	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121624102G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.859G>T	7.37:g.121624102G>T	ENSP00000377047:p.Glu287*					PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.E287*	p.E287*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			8	1254	+			287			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.859G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	38	6.670152	0.97751	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	6.08	6.08	0.98989	.	0.147779	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	.	.	.	X	287	.	ENSP00000377047:E287X	E	+	1	0	PTPRZ1	121411338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.437000	0.59955	2.894000	0.99253	0.655000	0.94253	GAG		0.343	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		27	90	1	0	1.26454e-06	0.005443	1.47024e-06	27	90				
RNF133	168433	broad.mit.edu	37	7	122338610	122338610	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:122338610C>A	ENST00000340112.2	-	1	600	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	121	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E121D(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCTTCTCAGTTGCCA	0.458																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(361-363)GAG>GAT		ring finger protein 133							132.0	130.0	131.0					7																	122338610		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338610C>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.363G>T	7.37:g.122338610C>A	ENSP00000344489:p.Glu121Asp					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.E121D	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	599	-			121			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.363G>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	8.833	0.940294	0.18281	.	.	ENSG00000188050	ENST00000340112	T	0.07444	3.19	5.66	0.982	0.19762	Protease-associated domain, PA (1);	0.613340	0.15491	N	0.259574	T	0.06005	0.0156	L	0.37697	1.125	0.20926	N	0.999828	B	0.10296	0.003	B	0.12837	0.008	T	0.34527	-0.9825	10	0.30854	T	0.27	.	4.9391	0.13956	0.0:0.4279:0.3246:0.2475	.	121	Q8WVZ7	RN133_HUMAN	D	121	ENSP00000344489:E121D	ENSP00000344489:E121D	E	-	3	2	RNF133	122125846	0.000000	0.05858	0.422000	0.26621	0.909000	0.53808	-0.126000	0.10563	0.718000	0.32166	0.561000	0.74099	GAG		0.458	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		53	101	1	0	4.25531e-23	0.00361	6.35383e-23	53	101				
ZNF800	168850	broad.mit.edu	37	7	127013766	127013766	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:127013766G>A	ENST00000393313.1	-	5	2215	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.H542Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H542Y|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H542Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GACTTTTTATGAACCACAGTT	0.338																																							uc003vlx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1624-1626)CAT>TAT		zinc finger protein 800							78.0	77.0	77.0					7																	127013766		2202	4300	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013766G>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1624C>T	7.37:g.127013766G>A	ENSP00000376989:p.His542Tyr					ZNF800_uc003vlw.1_Missense_Mutation_p.H445Y|ZNF800_uc003vly.1_Missense_Mutation_p.H542Y|ZNF800_uc010lla.2_Missense_Mutation_p.H542Y	p.H542Y	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1887	-			542			C2H2-type 6.		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1624C>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352849	0.61293	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.85955	-2.05;-2.05;-2.05	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	L	0.32530	0.975	0.36534	D	0.870870	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.86504	0.1805	8	.	.	.	-18.5385	19.6475	0.95784	0.0:0.0:1.0:0.0	.	445;542	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	542	ENSP00000376989:H542Y;ENSP00000265827:H542Y;ENSP00000376988:H542Y	.	H	-	1	0	ZNF800	126801002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.885000	0.99019	0.655000	0.94253	CAT		0.338	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		20	73	0	0	0	0.001882	0	20	73				
FSCN3	29999	broad.mit.edu	37	7	127239488	127239488	+	Silent	SNP	C	C	A	rs192546949		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:127239488C>A	ENST00000265825.5	+	5	1393	c.1174C>A	c.(1174-1176)Cga>Aga	p.R392R	FSCN3_ENST00000420086.2_Silent_p.R258R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	392						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R392R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTGTATTGCGAGGTCGTTA	0.517																																							uc003vmd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1174-1176)CGA>AGA		fascin 3							147.0	127.0	134.0					7																	127239488		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127239488C>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1174C>A	7.37:g.127239488C>A						FSCN3_uc011koh.1_Silent_p.R258R|FSCN3_uc010llc.1_Silent_p.R392R	p.R392R	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			5	1393	+			392					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.1174C>A	CCDS34746.1																																																																																				0.517	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		24	63	1	0	1.85244e-09	0.00333	2.31754e-09	24	63				
CPA5	93979	broad.mit.edu	37	7	130008265	130008265	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:130008265A>C	ENST00000485477.1	+	12	2267	c.1138A>C	c.(1138-1140)Atc>Ctc	p.I380L	CPA5_ENST00000461828.1_Missense_Mutation_p.I380L|CPA5_ENST00000431780.2_Silent_p.G351G|CPA5_ENST00000466363.2_Missense_Mutation_p.I380L|CPA5_ENST00000474905.1_Missense_Mutation_p.I380L|CPA5_ENST00000393213.3_Missense_Mutation_p.I380L|CPA5_ENST00000355388.3_Missense_Mutation_p.I380L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	380						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I380L(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGCCAGTGGGATCACCGTCGA	0.547																																							uc010lmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)ATC>CTC		carboxypeptidase A5 isoform 1							123.0	113.0	116.0					7																	130008265		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008265A>C	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1138A>C	7.37:g.130008265A>C	ENSP00000420237:p.Ile380Leu					CPA5_uc003vps.2_Missense_Mutation_p.I380L|CPA5_uc003vpt.2_Silent_p.G351G|CPA5_uc010lme.1_Missense_Mutation_p.I380L|CPA5_uc003vpu.1_Missense_Mutation_p.I380L|uc003vpv.1_RNA	p.I380L	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			14	1758	+	Melanoma(18;0.0435)		380					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1138A>C	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.591437	0.28357	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	5.81	4.67	0.58626	Peptidase M14, carboxypeptidase A (2);	0.181321	0.39544	N	0.001339	T	0.08223	0.0205	L	0.41710	1.295	0.26724	N	0.970728	B	0.20368	0.044	B	0.22386	0.039	T	0.30995	-0.9959	9	.	.	.	.	3.7681	0.08630	0.6257:0.0:0.2249:0.1494	.	380	Q8WXQ8	CBPA5_HUMAN	L	380	ENSP00000347549:I380L;ENSP00000418183:I380L;ENSP00000419025:I380L;ENSP00000420237:I380L;ENSP00000417314:I380L;ENSP00000376907:I380L	.	I	+	1	0	CPA5	129795501	0.001000	0.12720	0.917000	0.36280	0.016000	0.09150	0.732000	0.26072	1.044000	0.40200	0.533000	0.62120	ATC		0.547	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		7	65	0	0	0	0.007835	0	7	65				
CPA5	93979	broad.mit.edu	37	7	130008287	130008287	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:130008287A>T	ENST00000485477.1	+	12	2289	c.1160A>T	c.(1159-1161)gAc>gTc	p.D387V	CPA5_ENST00000461828.1_Missense_Mutation_p.D387V|CPA5_ENST00000431780.2_Missense_Mutation_p.T359S|CPA5_ENST00000466363.2_Missense_Mutation_p.D387V|CPA5_ENST00000474905.1_Missense_Mutation_p.D387V|CPA5_ENST00000393213.3_Missense_Mutation_p.D387V|CPA5_ENST00000355388.3_Missense_Mutation_p.D387V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	387						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D387V(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGGGCCTATGACAGTGGCATC	0.562																																							uc010lmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1159-1161)GAC>GTC		carboxypeptidase A5 isoform 1							148.0	130.0	136.0					7																	130008287		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008287A>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1160A>T	7.37:g.130008287A>T	ENSP00000420237:p.Asp387Val					CPA5_uc003vps.2_Missense_Mutation_p.D387V|CPA5_uc003vpt.2_Missense_Mutation_p.T359S|CPA5_uc010lme.1_Missense_Mutation_p.D387V|CPA5_uc003vpu.1_Missense_Mutation_p.D387V|uc003vpv.1_RNA	p.D387V	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			14	1780	+	Melanoma(18;0.0435)		387					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1160A>T	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.65|17.65	3.442707|3.442707	0.63067|0.63067	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213|ENST00000431780;ENST00000479492	T;T;T;T;T;T|T	0.10573|0.12255	2.86;2.86;2.86;2.86;2.86;2.86|2.7	5.81|5.81	5.81|5.81	0.92471|0.92471	Peptidase M14, carboxypeptidase A (2);|.	0.086095|.	0.50627|.	D|.	0.000110|.	T|T	0.17959|0.17959	0.0431|0.0431	L|L	0.58969|0.58969	1.84|1.84	0.58432|0.58432	D|D	0.999999|0.999999	D|P	0.57899|0.46142	0.981|0.873	P|B	0.60012|0.41412	0.867|0.356	T|T	0.01337|0.01337	-1.1381|-1.1381	9|8	.|.	.|.	.|.	.|.	15.3432|15.3432	0.74314|0.74314	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	387|359	Q8WXQ8|G3V0G8	CBPA5_HUMAN|.	V|S	387|359;36	ENSP00000347549:D387V;ENSP00000418183:D387V;ENSP00000419025:D387V;ENSP00000420237:D387V;ENSP00000417314:D387V;ENSP00000376907:D387V|ENSP00000393045:T359S	.|.	D|T	+|+	2|1	0|0	CPA5|CPA5	129795523|129795523	0.961000|0.961000	0.32948|0.32948	0.837000|0.837000	0.33122|0.33122	0.010000|0.010000	0.07245|0.07245	7.359000|7.359000	0.79477|0.79477	2.224000|2.224000	0.72417|0.72417	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.562	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		21	65	0	0	0	0.00361	0	21	65				
SLC35B4	84912	broad.mit.edu	37	7	133986824	133986824	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:133986824G>T	ENST00000378509.4	-	5	682	c.383C>A	c.(382-384)tCt>tAt	p.S128Y		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	128					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)	p.S128Y(1)		large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TATCCCCACAGACACCAGGGC	0.368																																							uc003vrn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(382-384)TCT>TAT		solute carrier family 35, member B4							78.0	84.0	82.0					7																	133986824		2203	4300	6503	SO:0001583	missense	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133986824G>T	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.383C>A	7.37:g.133986824G>T	ENSP00000367770:p.Ser128Tyr					SLC35B4_uc010lmk.2_Translation_Start_Site|SLC35B4_uc010lml.1_Missense_Mutation_p.S60Y|SLC35B4_uc003vro.3_Missense_Mutation_p.S128Y	p.S128Y	NM_032826	NP_116215	Q969S0	S35B4_HUMAN			5	707	-			128			Helical; (Potential).		A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	c.383C>A	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816918	0.50633	.	.	ENSG00000205060	ENST00000378509	T	0.36157	1.27	5.73	4.85	0.62838	.	0.108928	0.64402	D	0.000003	T	0.61974	0.2390	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;P;D	0.74023	0.943;0.904;0.982	T	0.68428	-0.5411	10	0.87932	D	0	-7.9141	16.5098	0.84281	0.0:0.1312:0.8688:0.0	.	128;128;128	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	Y	128	ENSP00000367770:S128Y	ENSP00000367770:S128Y	S	-	2	0	SLC35B4	133637364	1.000000	0.71417	0.927000	0.36925	0.037000	0.13140	9.311000	0.96282	1.403000	0.46800	-0.172000	0.13284	TCT		0.368	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		22	104	1	0	9.04412e-07	0.004656	1.05293e-06	22	104				
AKR1B10	57016	broad.mit.edu	37	7	134222393	134222393	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:134222393C>A	ENST00000359579.4	+	7	1041	c.721C>A	c.(721-723)Cac>Aac	p.H241N		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	241					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCTGCAAAGCACAAAAAAAC	0.453																																							uc003vrr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(721-723)CAC>AAC		aldo-keto reductase family 1, member B10							96.0	106.0	102.0					7																	134222393		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222393C>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.721C>A	7.37:g.134222393C>A	ENSP00000352584:p.His241Asn						p.H241N	NM_020299	NP_064695	O60218	AK1BA_HUMAN			7	1041	+			241					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.721C>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	14.53	2.562556	0.45694	.	.	ENSG00000198074	ENST00000359579	T	0.19394	2.15	4.53	3.65	0.41850	NADP-dependent oxidoreductase domain (3);	0.096989	0.64402	D	0.000001	T	0.31231	0.0790	M	0.75615	2.305	0.46542	D	0.999095	B	0.27594	0.182	B	0.40444	0.329	T	0.11941	-1.0567	10	0.56958	D	0.05	.	8.4345	0.32778	0.0:0.8188:0.0:0.1812	.	241	O60218	AK1BA_HUMAN	N	241	ENSP00000352584:H241N	ENSP00000352584:H241N	H	+	1	0	AKR1B10	133872933	1.000000	0.71417	0.974000	0.42286	0.765000	0.43378	1.425000	0.34859	1.041000	0.40125	0.556000	0.70494	CAC		0.453	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		46	69	1	0	3.54909e-21	0.002852	5.2189e-21	46	69				
OR9A4	130075	broad.mit.edu	37	7	141618891	141618891	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:141618891C>T	ENST00000548136.1	+	1	275	c.216C>T	c.(214-216)gtC>gtT	p.V72V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V72V(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGATCCTGGTCACAACCATAA	0.502																																							uc003vwu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(214-216)GTC>GTT		olfactory receptor, family 9, subfamily A,							124.0	129.0	127.0					7																	141618891		2203	4300	6503	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618891C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.216C>T	7.37:g.141618891C>T							p.V72V	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	216	+	Melanoma(164;0.0171)		72			Helical; Name=2; (Potential).		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.216C>T	CCDS43661.1																																																																																				0.502	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		13	136	0	0	0	0.001855	0	13	136				
TAS2R60	338398	broad.mit.edu	37	7	143141164	143141164	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:143141164G>A	ENST00000332690.1	+	1	619	c.619G>A	c.(619-621)Gct>Act	p.A207T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	207					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A207T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AATGCCCACTGCTGTCTTTTT	0.453																																							uc011ktg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(619-621)GCT>ACT		taste receptor, type 2, member 60							155.0	153.0	153.0					7																	143141164		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141164G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.619G>A	7.37:g.143141164G>A	ENSP00000327724:p.Ala207Thr					uc003wda.2_Intron	p.A207T	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	619	+	Melanoma(164;0.172)		207			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.619G>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944099	0.53079	.	.	ENSG00000185899	ENST00000332690	T	0.37915	1.17	5.62	-1.23	0.09465	.	0.739627	0.11299	U	0.578418	T	0.20577	0.0495	N	0.25647	0.755	0.09310	N	1	P	0.35656	0.514	B	0.36030	0.216	T	0.22382	-1.0218	10	0.21014	T	0.42	.	5.7948	0.18381	0.2464:0.4063:0.3473:0.0	.	207	P59551	T2R60_HUMAN	T	207	ENSP00000327724:A207T	ENSP00000327724:A207T	A	+	1	0	TAS2R60	142851286	0.000000	0.05858	0.000000	0.03702	0.614000	0.37383	-0.912000	0.04046	0.023000	0.15187	0.591000	0.81541	GCT		0.453	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			56	89	0	0	0	0.00361	0	56	89				
ARHGEF35	445328	broad.mit.edu	37	7	143884027	143884027	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:143884027G>A	ENST00000378115.2	-	2	1579	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.L484F	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	484								p.L484F(1)		kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						acatatcaaaGTACTGATAGA	0.378																																							uc003wdz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)CTT>TTT		Rho guanine nucleotide exchange factor (GEF)							17.0	17.0	17.0					7																	143884027		2123	4125	6248	SO:0001583	missense	445328							g.chr7:143884027G>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1450C>T	7.37:g.143884027G>A	ENSP00000367355:p.Leu484Phe						p.L484F	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1568	-			484					Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1450C>T	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.184068	0.00305	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	.	.	.	.	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.54965	0.765	T	0.15867	-1.0422	6	0.87932	D	0	.	.	.	.	.	484	A5YM69	ARG35_HUMAN	F	484	.	ENSP00000367355:L484F	L	-	1	0	ARHGEF35	143514960	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	-0.931000	0.03967	-1.641000	0.01523	-1.724000	0.00704	CTT		0.378	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		9	8	0	0	0	0.004482	0	9	8				
CNTNAP2	26047	broad.mit.edu	37	7	146471396	146471396	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:146471396C>T	ENST00000361727.3	+	2	647	c.131C>T	c.(130-132)cCc>cTc	p.P44L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	44	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)	p.P44L(1)		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)			TCTGGACTCCCCCATGTGGCT	0.443										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(130-132)CCC>CTC		cell recognition molecule Caspr2 precursor							73.0	71.0	72.0					7																	146471396		2203	4300	6503	SO:0001583	missense	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.chr7:146471396C>T	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.131C>T	7.37:g.146471396C>T	ENSP00000354778:p.Pro44Leu	HNSCC(39;0.1)					p.P44L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	647	+	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)	44			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.131C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071329	0.36566	.	.	ENSG00000174469	ENST00000361727	D	0.97256	-4.31	5.74	4.86	0.63082	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.228496	0.25241	N	0.032100	D	0.96867	0.8977	M	0.88450	2.955	0.80722	D	1	B	0.16396	0.017	B	0.18263	0.021	D	0.95460	0.8542	10	0.51188	T	0.08	.	13.92	0.63926	0.1534:0.8466:0.0:0.0	.	44	Q9UHC6	CNTP2_HUMAN	L	44	ENSP00000354778:P44L	ENSP00000354778:P44L	P	+	2	0	CNTNAP2	146102329	0.990000	0.36364	0.989000	0.46669	0.290000	0.27261	1.988000	0.40697	1.416000	0.47057	0.650000	0.86243	CCC		0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			5	27	0	0	0	0.000602	0	5	27				
ZNF777	27153	broad.mit.edu	37	7	149152848	149152848	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:149152848T>A	ENST00000247930.4	-	2	589	c.266A>T	c.(265-267)cAa>cTa	p.Q89L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q89L(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGAAGTCTCTTGCTCAGAAGC	0.602																																							uc003wfv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(265-267)CAA>CTA		zinc finger protein 777							84.0	94.0	91.0					7																	149152848		1884	4113	5997	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152848T>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.266A>T	7.37:g.149152848T>A	ENSP00000247930:p.Gln89Leu						p.Q89L	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	429	-	Melanoma(164;0.165)		89					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.266A>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200749	0.58126	.	.	ENSG00000196453	ENST00000247930	T	0.07021	3.23	4.66	4.66	0.58398	.	0.160723	0.29529	N	0.011888	T	0.06050	0.0157	L	0.27053	0.805	0.33388	D	0.575755	B	0.32160	0.358	B	0.29785	0.107	T	0.29671	-1.0004	10	0.22109	T	0.4	-6.9	10.5225	0.44927	0.0:0.0:0.0:1.0	.	89	Q9ULD5-2	.	L	89	ENSP00000247930:Q89L	ENSP00000247930:Q89L	Q	-	2	0	ZNF777	148783781	0.087000	0.21565	0.997000	0.53966	0.493000	0.33554	0.258000	0.18387	1.745000	0.51790	0.379000	0.24179	CAA		0.602	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		58	69	0	0	0	0.00361	0	58	69				
GIMAP4	55303	broad.mit.edu	37	7	150269316	150269316	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150269316G>A	ENST00000255945.2	+	3	333	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R67Q|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	53	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.R53Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGGCCGGAAAGTGTTT	0.473																																							uc003whl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)CGG>CAG		GTPase, IMAP family member 4							87.0	84.0	85.0					7																	150269316		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269316G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.158G>A	7.37:g.150269316G>A	ENSP00000255945:p.Arg53Gln					GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Missense_Mutation_p.R67Q	p.R53Q	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	240	+			53						Missense_Mutation	SNP	ENST00000255945.2	37	c.158G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222492	0.22457	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938;ENST00000479232	T;T;T	0.05513	3.43;3.43;3.43	4.61	2.14	0.27477	AIG1 (1);	1.163860	0.06239	N	0.690014	T	0.05731	0.0150	L	0.31664	0.95	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.001;0.007	T	0.46679	-0.9174	10	0.23302	T	0.38	.	6.528	0.22312	0.8003:0.0:0.1997:0.0	.	67;53	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	Q	53;67;53;67	ENSP00000255945:R53Q;ENSP00000419545:R67Q;ENSP00000418615:R67Q	ENSP00000255945:R53Q	R	+	2	0	GIMAP4	149900249	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	-0.376000	0.07465	0.263000	0.21812	-0.294000	0.09567	CGG		0.473	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		3	50	0	0	0	0.004672	0	3	50				
ASIC3	9311	broad.mit.edu	37	7	150748263	150748263	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150748263C>A	ENST00000349064.5	+	6	1269	c.1071C>A	c.(1069-1071)gcC>gcA	p.A357A	ASIC3_ENST00000357922.4_Silent_p.A357A|ASIC3_ENST00000297512.8_Silent_p.A357A	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	357					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.A357A(2)									CCGCAGATGCCATGCTTCGCA	0.751																																							uc003win.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1069-1071)GCC>GCA		amiloride-sensitive cation channel 3 isoform a							10.0	13.0	12.0					7																	150748263		2175	4234	6409	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150748263C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1071C>A	7.37:g.150748263C>A						ACCN3_uc003wio.2_Silent_p.A357A|ACCN3_uc003wip.2_Silent_p.A357A|ACCN3_uc003wiq.2_Intron	p.A357A	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1439	+			357			Extracellular (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	c.1071C>A	CCDS5916.1																																																																																				0.751	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		6	7	1	0	8.12818e-05	0.001984	8.98324e-05	6	7				
SLC4A2	6522	broad.mit.edu	37	7	150771574	150771574	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150771574A>G	ENST00000485713.1	+	18	3919	c.2879A>G	c.(2878-2880)cAg>cGg	p.Q960R	SLC4A2_ENST00000461735.1_Splice_Site_p.Q946R|SLC4A2_ENST00000392826.2_Splice_Site_p.Q951R|SLC4A2_ENST00000310317.5_Splice_Site_p.Q878R|SLC4A2_ENST00000413384.2_Splice_Site_p.Q960R|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	960	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.Q960R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTATACCCAGGTAAGGTGC	0.582																																							uc003wit.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2878-2880)CAG>CGG		solute carrier family 4, anion exchanger, member							92.0	82.0	85.0					7																	150771574		2203	4300	6503	SO:0001630	splice_region_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771574A>G		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2880+1A>G	7.37:g.150771574A>G						SLC4A2_uc011kve.1_Missense_Mutation_p.Q951R|SLC4A2_uc003wiu.3_Missense_Mutation_p.Q946R|SLC4A2_uc003wiv.3_Missense_Mutation_p.Q154R	p.Q960R	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	18	3135	+			960			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2879A>G	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436709	0.83885	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.54	4.32	0.51571	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.88450	2.955	0.53005	D	0.999967	P;D;D	0.76494	0.863;0.999;0.999	P;D;D	0.74348	0.614;0.972;0.983	D	0.90763	0.4666	10	0.59425	D	0.04	.	11.2644	0.49101	0.8472:0.1527:0.0:0.0	.	951;946;960	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	R	960;960;878;951;946	ENSP00000419412:Q960R;ENSP00000405600:Q960R;ENSP00000311402:Q878R;ENSP00000376571:Q951R;ENSP00000419164:Q946R	ENSP00000311402:Q878R	Q	+	2	0	SLC4A2	150402507	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.334000	0.96470	2.107000	0.64212	0.459000	0.35465	CAG		0.582	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	Missense_Mutation	8	71	0	0	0	0.00308	0	8	71				
KMT2C	58508	broad.mit.edu	37	7	151877045	151877045	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:151877045T>C	ENST00000262189.6	-	37	7534	c.7316A>G	c.(7315-7317)tAt>tGt	p.Y2439C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y2439C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2439	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y2439C(2)									GTTCCCAGGATAGGGAGGTGG	0.532																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7315-7317)TAT>TGT		myeloid/lymphoid or mixed-lineage leukemia 3							152.0	134.0	140.0					7																	151877045		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151877045T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7316A>G	7.37:g.151877045T>C	ENSP00000262189:p.Tyr2439Cys					MLL3_uc003wkz.2_Missense_Mutation_p.Y1500C|MLL3_uc003wky.2_5'Flank	p.Y2439C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	37	7535	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2439			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7316A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783154	0.49891	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.91124	-2.79;-2.73	5.5	5.5	0.81552	.	0.000000	0.42294	D	0.000729	D	0.94751	0.8306	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.95227	0.8339	10	0.72032	D	0.01	.	15.6026	0.76636	0.0:0.0:0.0:1.0	.	2439;1500	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	2439	ENSP00000262189:Y2439C;ENSP00000347325:Y2439C	ENSP00000262189:Y2439C	Y	-	2	0	MLL3	151507978	1.000000	0.71417	0.987000	0.45799	0.625000	0.37756	7.311000	0.78958	2.085000	0.62840	0.528000	0.53228	TAT		0.532	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			52	84	0	0	0	0.00361	0	52	84				
MYOM2	9172	broad.mit.edu	37	8	2007299	2007299	+	Missense_Mutation	SNP	C	C	A	rs142466938	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:2007299C>A	ENST00000262113.4	+	6	727	c.586C>A	c.(586-588)Cag>Aag	p.Q196K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	196	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.Q196K(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTGATTTGCCAGGCGGCTGA	0.512																																							uc003wpx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(586-588)CAG>AAG		myomesin 2							106.0	94.0	98.0					8																	2007299		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2007299C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.586C>A	8.37:g.2007299C>A	ENSP00000262113:p.Gln196Lys					MYOM2_uc011kwi.1_Intron	p.Q196K	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	6	724	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	196			Ig-like C2-type 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.586C>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132891	0.09032	.	.	ENSG00000036448	ENST00000262113	T	0.66815	-0.23	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378675	0.23777	N	0.044674	T	0.56455	0.1986	N	0.17723	0.515	0.80722	D	1	B	0.22276	0.067	B	0.27380	0.079	T	0.52786	-0.8529	10	0.39692	T	0.17	.	18.3566	0.90359	0.0:1.0:0.0:0.0	.	196	P54296	MYOM2_HUMAN	K	196	ENSP00000262113:Q196K	ENSP00000262113:Q196K	Q	+	1	0	MYOM2	1994706	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.167000	0.50793	2.423000	0.82170	0.591000	0.81541	CAG		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		28	53	1	0	1.75199e-13	0.007291	2.34674e-13	28	53				
MYOM2	9172	broad.mit.edu	37	8	2054306	2054306	+	Missense_Mutation	SNP	G	G	A	rs568244508		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:2054306G>A	ENST00000262113.4	+	23	3058	c.2917G>A	c.(2917-2919)Gat>Aat	p.D973N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D398N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	973	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D973N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAGAATCCGGATAAGGAGGA	0.413																																							uc003wpx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2917-2919)GAT>AAT		myomesin 2							113.0	113.0	113.0					8																	2054306		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2054306G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2917G>A	8.37:g.2054306G>A	ENSP00000262113:p.Asp973Asn					MYOM2_uc011kwi.1_Missense_Mutation_p.D398N	p.D973N	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	23	3055	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	973			Ig-like C2-type 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2917G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522495	0.64747	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.43	5.43	0.79202	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200909	0.49916	D	0.000121	T	0.53222	0.1783	M	0.67953	2.075	0.45621	D	0.998555	D	0.58620	0.983	P	0.49999	0.628	T	0.50329	-0.8841	10	0.31617	T	0.26	.	19.242	0.93888	0.0:0.0:1.0:0.0	.	973	P54296	MYOM2_HUMAN	N	973;398	ENSP00000262113:D973N;ENSP00000428396:D398N	ENSP00000262113:D973N	D	+	1	0	MYOM2	2041713	1.000000	0.71417	0.421000	0.26609	0.034000	0.12701	9.503000	0.97984	2.536000	0.85505	0.643000	0.83706	GAT		0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	52	0	0	0	0.00308	0	8	52				
CSMD1	64478	broad.mit.edu	37	8	3046423	3046423	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:3046423C>T	ENST00000520002.1	-	36	6067	c.5512G>A	c.(5512-5514)Ggc>Agc	p.G1838S	CSMD1_ENST00000602557.1_Missense_Mutation_p.G1838S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1838S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1837S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1837S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1838S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1837S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1838	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G1837S(1)|p.G1566S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCCCGAGCCCTCCGTAACT	0.473																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(5512-5514)GGC>AGC		CUB and Sushi multiple domains 1 precursor							58.0	56.0	57.0					8																	3046423		1890	4101	5991	SO:0001583	missense	64478					integral to membrane		g.chr8:3046423C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5512G>A	8.37:g.3046423C>T	ENSP00000430733:p.Gly1838Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.G1230S|CSMD1_uc003wqe.2_Missense_Mutation_p.G994S|CSMD1_uc010lrg.2_5'Flank	p.G1838S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	35	5902	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1838			Extracellular (Potential).|CUB 11.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5512G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.14|17.14	3.312807|3.312807	0.60414|0.60414	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12	5.53|5.53	4.66|4.66	0.58398|0.58398	.|CUB (5);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77651|0.77651	0.4162|0.4162	M|M	0.71920|0.71920	2.185|2.185	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.991;1.0	.|D;D;D	.|0.97110	.|0.999;0.986;1.0	T|T	0.80346|0.80346	-0.1421|-0.1421	6|10	.|0.72032	.|D	.|0.01	.|.	14.4165|14.4165	0.67153|0.67153	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	.|1838;1838;1838	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	E|S	1317|1838;1838;1700;1837;1837;1837	.|ENSP00000383047:G1838S;ENSP00000430733:G1838S;ENSP00000441462:G1837S;ENSP00000446243:G1837S;ENSP00000441675:G1837S	.|ENSP00000320445:G1700S	G|G	-|-	2|1	0|0	CSMD1|CSMD1	3033830|3033830	1.000000|1.000000	0.71417|0.71417	0.039000|0.039000	0.18376|0.18376	0.029000|0.029000	0.11900|0.11900	7.582000|7.582000	0.82546|0.82546	1.330000|1.330000	0.45394|0.45394	0.637000|0.637000	0.83480|0.83480	GGG|GGC		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	9	0	0	0	0.001984	0	7	9				
PRSS55	203074	broad.mit.edu	37	8	10387130	10387130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10387130G>T	ENST00000328655.3	+	2	308	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Nonsense_Mutation_p.E90*	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.E90*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGCAAGAAGTGAACCTTTCTG	0.527																																							uc003wta.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(268-270)GAA>TAA		hypothetical protein LOC203074 precursor							266.0	259.0	261.0					8																	10387130		2203	4300	6503	SO:0001587	stop_gained	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387130G>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.268G>T	8.37:g.10387130G>T	ENSP00000333003:p.Glu90*					uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	p.E90*	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			2	283	+			90			Extracellular (Potential).|Peptidase S1.		E5RJX5	Nonsense_Mutation	SNP	ENST00000328655.3	37	c.268G>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600254	0.28534	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	.	.	.	4.07	-7.2	0.01495	.	4.242690	0.00799	N	0.001407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	6.1762	0.20444	0.1592:0.5636:0.1865:0.0908	.	.	.	.	X	90	.	ENSP00000333003:E90X	E	+	1	0	PRSS55	10424540	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.285000	0.02791	-1.658000	0.01490	-0.304000	0.09214	GAA		0.527	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		92	209	1	0	3.71036e-49	0.00361	5.95844e-49	92	209				
PRSS55	203074	broad.mit.edu	37	8	10396253	10396253	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10396253C>G	ENST00000328655.3	+	5	1049	c.1009C>G	c.(1009-1011)Ctc>Gtc	p.L337V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	337						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.L337V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGATCCTGGCTCCTGCTCTG	0.522																																							uc003wta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1009-1011)CTC>GTC		hypothetical protein LOC203074 precursor							97.0	109.0	105.0					8																	10396253		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10396253C>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.1009C>G	8.37:g.10396253C>G	ENSP00000333003:p.Leu337Val					uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron	p.L337V	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			5	1024	+			337			Helical; (Potential).		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.1009C>G	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074581	0.20227	.	.	ENSG00000184647	ENST00000328655	D	0.89050	-2.46	3.64	0.821	0.18799	.	0.561851	0.13459	N	0.386334	T	0.81484	0.4832	L	0.32530	0.975	0.80722	D	1	P	0.52842	0.956	P	0.45310	0.476	T	0.72824	-0.4176	10	0.23891	T	0.37	.	6.0293	0.19671	0.0:0.6572:0.0:0.3428	.	337	Q6UWB4	PRS55_HUMAN	V	337	ENSP00000333003:L337V	ENSP00000333003:L337V	L	+	1	0	PRSS55	10433663	0.000000	0.05858	0.525000	0.27900	0.013000	0.08279	-0.636000	0.05465	0.161000	0.19458	-0.140000	0.14226	CTC		0.522	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		12	183	0	0	0	0.001368	0	12	183				
RP1L1	94137	broad.mit.edu	37	8	10466457	10466457	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10466457G>A	ENST00000382483.3	-	4	5374	c.5151C>T	c.(5149-5151)ccC>ccT	p.P1717P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1797					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P1717P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TAGTGCTCGTGGGGTCCGTGT	0.657																																							uc003wtc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5149-5151)CCC>CCT		retinitis pigmentosa 1-like 1							75.0	84.0	81.0					8																	10466457		2007	4171	6178	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466457G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5151C>T	8.37:g.10466457G>A							p.P1717P	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5380	-			1717					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5151C>T	CCDS43708.1																																																																																				0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			29	99	0	0	0	0.008361	0	29	99				
MTMR7	9108	broad.mit.edu	37	8	17188770	17188770	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:17188770C>G	ENST00000180173.5	-	7	788	c.754G>C	c.(754-756)Gct>Cct	p.A252P	MTMR7_ENST00000521857.1_Missense_Mutation_p.A252P	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	252	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.A252T(1)|p.A252P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCCCTGCAGCACGATTTGCC	0.383																																							uc003wxm.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(1)	1						c.(754-756)GCT>CCT		myotubularin related protein 7							152.0	129.0	137.0					8																	17188770		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17188770C>G	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.754G>C	8.37:g.17188770C>G	ENSP00000180173:p.Ala252Pro					MTMR7_uc003wxn.2_Missense_Mutation_p.A31P	p.A252P	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	7	993	-			252			Myotubularin phosphatase.|Substrate binding (By similarity).		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.754G>C	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050292	0.93740	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.96011	-3.88;-3.88	4.84	4.84	0.62591	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99383	1.0923	10	0.87932	D	0	.	18.5404	0.91025	0.0:1.0:0.0:0.0	.	252;252	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	P	252	ENSP00000180173:A252P;ENSP00000429733:A252P	ENSP00000180173:A252P	A	-	1	0	MTMR7	17233141	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.630000	0.83225	2.683000	0.91414	0.655000	0.94253	GCT		0.383	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		12	39	0	0	0	0.001368	0	12	39				
LZTS1	11178	broad.mit.edu	37	8	20110354	20110354	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:20110354A>T	ENST00000381569.1	-	3	1445	c.1088T>A	c.(1087-1089)cTc>cAc	p.L363H	LZTS1_ENST00000522290.1_Missense_Mutation_p.L363H|LZTS1_ENST00000265801.6_Missense_Mutation_p.L363H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	363					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L363H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTAGGACCTGAGCTTGGTCTC	0.642																																							uc003wzr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1087-1089)CTC>CAC		leucine zipper, putative tumor suppressor 1							34.0	35.0	35.0					8																	20110354		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110354A>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1088T>A	8.37:g.20110354A>T	ENSP00000370981:p.Leu363His					LZTS1_uc010ltg.1_Missense_Mutation_p.L363H	p.L363H	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	1199	-			363			Potential.		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1088T>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639067	0.67130	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.26518	2.05;2.05;1.73	5.45	5.45	0.79879	.	0.068318	0.64402	D	0.000010	T	0.47060	0.1425	M	0.64997	1.995	0.44395	D	0.997308	D;D	0.89917	1.0;0.999	D;P	0.79108	0.992;0.846	T	0.33879	-0.9851	10	0.34782	T	0.22	-31.3903	14.3373	0.66600	1.0:0.0:0.0:0.0	.	363;363	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	363	ENSP00000370981:L363H;ENSP00000265801:L363H;ENSP00000429263:L363H	ENSP00000265801:L363H	L	-	2	0	LZTS1	20154634	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.235000	0.65348	2.068000	0.61886	0.459000	0.35465	CTC		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		8	28	0	0	0	0.008291	0	8	28				
DOK2	9046	broad.mit.edu	37	8	21766921	21766921	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:21766921G>T	ENST00000276420.4	-	5	1398	c.1140C>A	c.(1138-1140)ggC>ggA	p.G380G	DOK2_ENST00000544659.1_Silent_p.G226G	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	380					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.G380G(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CATGCTGGAGGCCAGCAGGGT	0.617																																							uc003wzy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)GGC>GGA		docking protein 2							44.0	47.0	46.0					8																	21766921		2202	4297	6499	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21766921G>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.1140C>A	8.37:g.21766921G>T						DOK2_uc003wzx.1_Silent_p.G380G|DOK2_uc003wzz.1_Silent_p.G226G|DOK2_uc010lth.1_Silent_p.G226G	p.G380G	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	1233	-			380					Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.1140C>A	CCDS6016.1																																																																																				0.617	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		15	52	1	0	2.32078e-09	0.003163	2.89932e-09	15	52				
LGI3	203190	broad.mit.edu	37	8	22005941	22005941	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:22005941T>A	ENST00000306317.2	-	8	1668	c.1379A>T	c.(1378-1380)cAg>cTg	p.Q460L	LGI3_ENST00000424267.2_Missense_Mutation_p.Q436L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	460					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.Q460L(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGGCAGGGCCTGCACCTCCGA	0.652																																							uc003xav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1378-1380)CAG>CTG		leucine-rich repeat LGI family, member 3							30.0	30.0	30.0					8																	22005941		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22005941T>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1379A>T	8.37:g.22005941T>A	ENSP00000302297:p.Gln460Leu					LGI3_uc010ltu.2_Missense_Mutation_p.Q436L	p.Q460L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1668	-			460			EAR 6.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1379A>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.629148	0.87560	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	D;D	0.89270	-2.49;-2.49	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93278	0.7858	M	0.72353	2.195	0.58432	D	0.999996	D;D	0.59357	0.985;0.985	D;D	0.71414	0.973;0.973	D	0.93907	0.7193	10	0.87932	D	0	-26.814	13.0123	0.58737	0.0:0.0:0.0:1.0	.	436;460	A5PLP2;Q8N145	.;LGI3_HUMAN	L	460;436	ENSP00000302297:Q460L;ENSP00000399121:Q436L	ENSP00000302297:Q460L	Q	-	2	0	LGI3	22061886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.035000	0.88872	1.941000	0.56285	0.459000	0.35465	CAG		0.652	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			4	21	0	0	0	0.009096	0	4	21				
NEFL	4747	broad.mit.edu	37	8	24813237	24813237	+	RNA	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:24813237A>T	ENST00000221169.5	-	0	1387				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.Y265N(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCTTCTCGTACTGCGCGCGG	0.632																																							uc003xee.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(793-795)TAC>AAC		neurofilament, light polypeptide 68kDa							49.0	55.0	53.0					8																	24813237		2159	4273	6432			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813237A>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813237A>T							p.Y265N	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	895	-		Ovarian(32;0.00965)|Prostate(55;0.157)	265			Rod.|Coil 2A.		B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37	c.793T>A																																																																																					0.632	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		4	30	0	0	0	0.009096	0	4	30				
DOCK5	80005	broad.mit.edu	37	8	25101272	25101273	+	Splice_Site	DNP	GG	GG	AT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:25101272_25101273GG>AT	ENST00000276440.7	+	2	170_171	c.126_127GG>AT	c.(124-129)gaGGgt>gaATgt	p.G43C	DOCK5_ENST00000410074.1_Splice_Site_p.G43C|DOCK5_ENST00000481100.1_Splice_Site_p.G43C	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	43	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G43C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGATGTACGAGGGTAAGTCTGG	0.431																																					Pancreas(145;34 1887 3271 10937 30165)	Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(124-129)GAGGGT>GAATGT		dedicator of cytokinesis 5																																				SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25101272_25101273GG>AT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	Exception_encountered	8.37:g.25101272_25101273delinsAT						DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_Missense_Mutation_p.G43C	p.G43C	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	2	263_264	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	43			SH3.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	DNP	ENST00000276440.7	37	c.126_127GG>AT	CCDS6047.1																																																																																				0.431	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation	5	17	0	0	0	0.004672	0	5	17				
DOCK5	80005	broad.mit.edu	37	8	25209284	25209284	+	Missense_Mutation	SNP	G	G	T	rs139516143		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:25209284G>T	ENST00000276440.7	+	27	2836	c.2792G>T	c.(2791-2793)cGg>cTg	p.R931L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	931					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R931L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATAATGGAACGGCTGCTGAGA	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2791-2793)CGG>CTG		dedicator of cytokinesis 5							128.0	93.0	105.0					8																	25209284		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25209284G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2792G>T	8.37:g.25209284G>T	ENSP00000276440:p.Arg931Leu					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R645L|DOCK5_uc003xei.2_Missense_Mutation_p.R501L|DOCK5_uc003xej.2_RNA	p.R931L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	27	2929	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	931					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2792G>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101068	0.56183	.	.	ENSG00000147459	ENST00000276440	T	0.04049	3.72	5.98	5.1	0.69264	.	0.059863	0.64402	D	0.000002	T	0.07548	0.0190	L	0.50919	1.6	0.58432	D	0.99999	B;B;B	0.27971	0.196;0.102;0.196	B;B;B	0.28011	0.085;0.052;0.085	T	0.21245	-1.0251	10	0.30078	T	0.28	.	17.2375	0.87004	0.0:0.1259:0.8741:0.0	.	921;706;931	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	L	931	ENSP00000276440:R931L	ENSP00000276440:R931L	R	+	2	0	DOCK5	25265201	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.211000	0.77933	1.508000	0.48769	0.655000	0.94253	CGG		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	26	1	0	3.59834e-05	0.001168	4.02792e-05	6	26				
NUGGC	389643	broad.mit.edu	37	8	27898609	27898609	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:27898609C>T	ENST00000413272.2	-	13	1712	c.1570G>A	c.(1570-1572)Gcc>Acc	p.A524T	NUGGC_ENST00000341513.6_Missense_Mutation_p.A524T	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	524					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A524T(2)									GAAGTCCTGGCGGTCCTGACC	0.587																																							uc003xgm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1570-1572)GCC>ACC		speckled-like pattern in the germinal center							46.0	48.0	48.0					8																	27898609		2053	4220	6273	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27898609C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1570G>A	8.37:g.27898609C>T	ENSP00000408697:p.Ala524Thr						p.A524T	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	13	1713	-		Ovarian(32;0.0218)	524					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1570G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878720	0.51801	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	.	0.065529	0.64402	D	0.000007	T	0.48714	0.1515	L	0.34521	1.04	0.40252	D	0.978087	D	0.89917	1.0	D	0.68621	0.959	T	0.49244	-0.8960	10	0.66056	D	0.02	-17.207	15.2308	0.73386	0.0:1.0:0.0:0.0	.	524	Q68CJ6	SLIP_HUMAN	T	524	ENSP00000408697:A524T;ENSP00000345031:A524T	ENSP00000345031:A524T	A	-	1	0	C8orf80	27954528	0.994000	0.37717	0.888000	0.34837	0.030000	0.12068	4.089000	0.57685	2.644000	0.89710	0.650000	0.86243	GCC		0.587	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		5	15	0	0	0	0.000602	0	5	15				
FBXO16	157574	broad.mit.edu	37	8	28304710	28304710	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:28304710C>A	ENST00000380254.2	-	7	969	c.821G>T	c.(820-822)aGg>aTg	p.R274M	FBXO16_ENST00000518734.1_Missense_Mutation_p.R262M|FBXO16_ENST00000346498.2_Missense_Mutation_p.R262M|RP11-181B11.2_ENST00000523935.1_RNA|RP11-181B11.2_ENST00000518819.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	274								p.R274M(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTTTCTTAGCCTAGTTCTGTC	0.343																																							uc003xgt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(-82--78)TAGGC>TATGC		zinc finger protein 395							226.0	214.0	218.0					8																	28304710		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28304710C>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.821G>T	8.37:g.28304710C>A	ENSP00000369604:p.Arg274Met					FBXO16_uc003xgu.2_Missense_Mutation_p.R274M|FBXO16_uc003xgv.2_Missense_Mutation_p.R261M|FBXO16_uc003xgw.2_Missense_Mutation_p.R261M		NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	940	-		Ovarian(32;2.06e-05)						Q3T1B2|Q3T1B3|Q3T1B4	Translation_Start_Site	SNP	ENST00000380254.2	37	c.-80G>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077324	0.55753	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.18502	2.28;2.21;2.28	4.87	2.75	0.32379	.	0.596450	0.13963	U	0.350668	T	0.22003	0.0530	L	0.57536	1.79	0.80722	D	1	P;P;P	0.49961	0.859;0.859;0.93	P;P;P	0.49047	0.514;0.514;0.599	T	0.03651	-1.1016	10	0.87932	D	0	0.0	4.4587	0.11656	0.0:0.4938:0.0:0.5062	.	262;262;274	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	M	274;262;262	ENSP00000369604:R274M;ENSP00000341416:R262M;ENSP00000429687:R262M	ENSP00000341416:R262M	R	-	2	0	FBXO16	28360629	0.963000	0.33076	0.991000	0.47740	0.981000	0.71138	1.742000	0.38248	0.432000	0.26286	0.591000	0.81541	AGG		0.343	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		21	100	1	0	7.45023e-12	0.010504	9.75465e-12	21	100				
DDHD2	23259	broad.mit.edu	37	8	38095615	38095615	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:38095615G>C	ENST00000397166.2	+	5	1035	c.510G>C	c.(508-510)gtG>gtC	p.V170V	DDHD2_ENST00000520272.2_Silent_p.V170V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	170					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V170V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGCTTATGGTGCATTACCAGC	0.413																																							uc003xlb.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(508-510)GTG>GTC		DDHD domain containing 2 isoform 1							172.0	159.0	164.0					8																	38095615		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095615G>C	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.510G>C	8.37:g.38095615G>C						DDHD2_uc003xla.2_Silent_p.V170V|DDHD2_uc003xlc.2_Silent_p.V170V|DDHD2_uc011lbl.1_Intron	p.V170V	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		5	887	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	170					B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.510G>C	CCDS34883.1																																																																																				0.413	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		18	70	0	0	0	0.007413	0	18	70				
ANK1	286	broad.mit.edu	37	8	41563755	41563755	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:41563755C>A	ENST00000347528.4	-	18	2086	c.2003G>T	c.(2002-2004)gGa>gTa	p.G668V	ANK1_ENST00000379758.2_Missense_Mutation_p.G668V|ANK1_ENST00000352337.4_Missense_Mutation_p.G668V|ANK1_ENST00000289734.7_Missense_Mutation_p.G668V|ANK1_ENST00000265709.8_Missense_Mutation_p.G701V|ANK1_ENST00000396942.1_Missense_Mutation_p.G668V|ANK1_ENST00000396945.1_Missense_Mutation_p.G668V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	668	89 kDa 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)	p.G701V(1)|p.G668V(1)		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)			GGGAGTGAGTCCGCTCTGCAA	0.522																																							uc003xok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2002-2004)GGA>GTA		ankyrin 1 isoform 1							73.0	57.0	63.0					8																	41563755		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.chr8:41563755C>A	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.2003G>T	8.37:g.41563755C>A	ENSP00000339620:p.Gly668Val					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_5'UTR|ANK1_uc003xoi.2_Missense_Mutation_p.G668V|ANK1_uc003xoj.2_Missense_Mutation_p.G668V|ANK1_uc003xol.2_Missense_Mutation_p.G668V|ANK1_uc003xom.2_Missense_Mutation_p.G701V	p.G668V	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)		18	2087	-	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)	668			ANK 20.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2003G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035449	0.75617	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.14	5.14	0.70334	Ankyrin repeat-containing domain (3);	0.121090	0.56097	D	0.000031	D	0.94922	0.8358	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.982;0.968;0.974;0.999;0.982	D	0.95922	0.8931	10	0.87932	D	0	.	14.2368	0.65932	0.0:0.8508:0.1492:0.0	.	701;668;668;668;668	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	V	668;668;668;668;668;668;701;668	ENSP00000339620:G668V;ENSP00000289734:G668V;ENSP00000369082:G668V;ENSP00000380149:G668V;ENSP00000380147:G668V;ENSP00000309131:G668V;ENSP00000265709:G701V	ENSP00000265709:G701V	G	-	2	0	ANK1	41682912	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.933000	0.70130	2.392000	0.81423	0.561000	0.74099	GGA		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		14	19	1	0	0.000151284	0.001855	0.000166776	14	19				
PRKDC	5591	broad.mit.edu	37	8	48772259	48772259	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:48772259C>G	ENST00000314191.2	-	47	6173	c.6117G>C	c.(6115-6117)atG>atC	p.M2039I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2039I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2040					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.M2040I(1)|p.M2039I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAAATTGACTCATTTCCTCAC	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(6118-6120)ATG>ATC	NHEJ	protein kinase, DNA-activated, catalytic							91.0	88.0	89.0					8																	48772259		1865	4118	5983	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772259C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6117G>C	8.37:g.48772259C>G	ENSP00000313420:p.Met2039Ile					PRKDC_uc003xqj.2_Missense_Mutation_p.M2040I|PRKDC_uc011ldh.1_Intron	p.M2040I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			47	6177	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2040					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6120G>C		.	.	.	.	.	.	.	.	.	.	C	13.95	2.389926	0.42410	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.30714	1.52;1.52	5.9	5.02	0.67125	NUC194 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.28344	0.845	0.58432	D	0.999999	B;B	0.19445	0.034;0.036	B;B	0.22152	0.038;0.038	T	0.02942	-1.1091	10	0.33940	T	0.23	.	13.5683	0.61832	0.0:0.9261:0.0:0.0739	.	2039;2040	E7EUY0;P78527	.;PRKDC_HUMAN	I	2039	ENSP00000313420:M2039I;ENSP00000345182:M2039I	ENSP00000313420:M2039I	M	-	3	0	PRKDC	48934812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.728000	0.68531	2.786000	0.95864	0.561000	0.74099	ATG		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	96	0	0	0	0.001168	0	6	96				
RP1	6101	broad.mit.edu	37	8	55533900	55533900	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:55533900G>T	ENST00000220676.1	+	2	522	c.374G>T	c.(373-375)cGg>cTg	p.R125L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	125					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.R125L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGGCGCCCGCGGCCCTGGCTC	0.706																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(373-375)CGG>CTG		retinitis pigmentosa RP1 protein							27.0	33.0	31.0					8																	55533900		2195	4292	6487	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533900G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.374G>T	8.37:g.55533900G>T	ENSP00000220676:p.Arg125Leu					RP1_uc011ldy.1_Missense_Mutation_p.R125L	p.R125L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	522	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	125						Missense_Mutation	SNP	ENST00000220676.1	37	c.374G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830162	0.16749	.	.	ENSG00000104237	ENST00000220676	D	0.86230	-2.09	4.9	2.77	0.32553	Doublecortin domain (2);	0.367210	0.19636	N	0.109580	T	0.76248	0.3961	L	0.41906	1.305	0.29285	N	0.869762	B	0.14012	0.009	B	0.09377	0.004	T	0.59375	-0.7466	10	0.10636	T	0.68	-2.8436	5.2183	0.15354	0.1226:0.0:0.4065:0.4709	.	125	P56715	RP1_HUMAN	L	125	ENSP00000220676:R125L	ENSP00000220676:R125L	R	+	2	0	RP1	55696453	0.001000	0.12720	0.941000	0.38009	0.847000	0.48162	0.961000	0.29267	0.982000	0.38575	0.650000	0.86243	CGG		0.706	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		16	75	1	0	3.99206e-14	0.007413	5.4138e-14	16	75				
PENK	5179	broad.mit.edu	37	8	57353894	57353894	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:57353894G>T	ENST00000314922.3	-	2	817	c.741C>A	c.(739-741)ggC>ggA	p.G247G	PENK_ENST00000451791.2_Silent_p.G247G|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	247			G -> D (in dbSNP:rs1800567).		aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.G247G(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGTAACTTTCGCCTTCTTCGT	0.498																																							uc003xsz.2		NA																	2	Substitution - coding silent(2)		lung(1)|central_nervous_system(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(739-741)GGC>GGA		proenkephalin							76.0	84.0	81.0					8																	57353894		2203	4300	6503	SO:0001819	synonymous_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353894G>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.741C>A	8.37:g.57353894G>T						PENK_uc003xta.3_Silent_p.G247G	p.G247G	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	822	-		all_lung(136;0.229)	247					B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	c.741C>A	CCDS6168.1																																																																																				0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			24	121	1	0	1.10923e-09	0.00278	1.39173e-09	24	121				
CHD7	55636	broad.mit.edu	37	8	61653994	61653994	+	Start_Codon_SNP	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:61653994G>T	ENST00000423902.2	+	2	482	c.3G>T	c.(1-3)atG>atT	p.M1I	CHD7_ENST00000525508.1_Start_Codon_SNP_p.M1I|CHD7_ENST00000524602.1_Start_Codon_SNP_p.M1I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.M1I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAGAAGATGGCAGATCCAG	0.478																																							uc003xue.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1-3)ATG>ATT		chromodomain helicase DNA binding protein 7							107.0	104.0	105.0					8																	61653994		1945	4142	6087	SO:0001582	initiator_codon_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61653994G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3G>T	8.37:g.61653994G>T	ENSP00000392028:p.Met1Ile						p.M1I	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	480	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590989	0.46214	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.72942	-0.7;0.57;-0.7;-0.7	5.7	5.7	0.88788	.	0.000000	0.45867	D	0.000337	T	0.64136	0.2571	.	.	.	0.31977	N	0.606455	P	0.37864	0.61	B	0.31751	0.135	T	0.74402	-0.3677	9	0.87932	D	0	-16.7906	18.0003	0.89196	0.0:0.0:1.0:0.0	.	1	Q9P2D1	CHD7_HUMAN	I	1	ENSP00000392028:M1I;ENSP00000436492:M1I;ENSP00000437061:M1I;ENSP00000436027:M1I	ENSP00000307304:M1I	M	+	3	0	CHD7	61816548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.276000	0.72601	2.697000	0.92050	0.585000	0.79938	ATG		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Missense_Mutation	3	15	1	0	0.00909568	0.009096	0.00956747	3	15				
CLVS1	157807	broad.mit.edu	37	8	62212449	62212449	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:62212449C>A	ENST00000519846.1	+	3	535	c.63C>A	c.(61-63)gcC>gcA	p.A21A	CLVS1_ENST00000325897.4_Silent_p.A21A|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	21					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.A21A(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGATTTGGCCAAGATGACCC	0.453																																							uc003xuh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(61-63)GCC>GCA		retinaldehyde binding protein 1-like 1							61.0	60.0	60.0					8																	62212449		2203	4300	6503	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212449C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.63C>A	8.37:g.62212449C>A						CLVS1_uc003xug.2_Silent_p.A21A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.A21A	p.A21A	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	387	+			21					B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.63C>A	CCDS6176.1																																																																																				0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		14	58	1	0	4.3838e-07	0.001855	5.15185e-07	14	58				
CSPP1	79848	broad.mit.edu	37	8	68018196	68018196	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:68018196C>G	ENST00000262210.5	+	8	1137	c.1106C>G	c.(1105-1107)gCa>gGa	p.A369G	CSPP1_ENST00000412460.1_Missense_Mutation_p.A75G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	404					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A369G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGTCCTTTTGCAGGGATGCTC	0.348																																							uc003xxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1210-1212)GCA>GGA		centrosome spindle pole associated protein 1							97.0	88.0	91.0					8																	68018196		1831	4088	5919	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68018196C>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1106C>G	8.37:g.68018196C>G	ENSP00000262210:p.Ala369Gly					CSPP1_uc003xxg.1_Missense_Mutation_p.A396G|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A369G|CSPP1_uc003xxk.2_Missense_Mutation_p.A75G	p.A404G	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		10	1242	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	404					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1211C>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599590	0.66332	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.37235	1.26;1.21;1.21	4.59	4.59	0.56863	.	0.100000	0.41823	D	0.000803	T	0.43986	0.1272	L	0.47716	1.5	0.31670	N	0.644536	D;D;D;D	0.55605	0.972;0.962;0.972;0.972	P;P;P;P	0.53912	0.616;0.696;0.737;0.737	T	0.53415	-0.8442	10	0.56958	D	0.05	-9.2251	12.7552	0.57331	0.0:1.0:0.0:0.0	.	75;369;404;404	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	G	369;404;75;75	ENSP00000262210:A369G;ENSP00000415782:A75G;ENSP00000430092:A75G	ENSP00000262210:A369G	A	+	2	0	CSPP1	68180750	0.701000	0.27806	0.997000	0.53966	0.835000	0.47333	0.680000	0.25306	2.406000	0.81754	0.467000	0.42956	GCA		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		11	33	0	0	0	0.001368	0	11	33				
XKR9	389668	broad.mit.edu	37	8	71646054	71646054	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:71646054T>A	ENST00000408926.3	+	5	1051	c.517T>A	c.(517-519)Tgt>Agt	p.C173S	XKR9_ENST00000520030.1_Missense_Mutation_p.C173S|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	173						integral component of membrane (GO:0016021)		p.C173S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GGTCTCTTGCTGTGCTATTTC	0.308																																							uc003xyq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(517-519)TGT>AGT		XK, Kell blood group complex subunit-related							59.0	54.0	56.0					8																	71646054		2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646054T>A	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.517T>A	8.37:g.71646054T>A	ENSP00000386141:p.Cys173Ser					XKR9_uc010lze.2_Missense_Mutation_p.C173S|XKR9_uc010lzd.2_Missense_Mutation_p.C41S	p.C173S	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1051	+	Breast(64;0.0716)		173			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.517T>A	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204449	0.58234	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.62498	0.02;0.02	4.69	3.49	0.39957	.	0.614318	0.18096	N	0.151831	T	0.72277	0.3440	M	0.68317	2.08	0.35172	D	0.771677	D	0.71674	0.998	D	0.66351	0.943	T	0.75320	-0.3359	10	0.33940	T	0.23	-6.8087	9.5808	0.39486	0.2788:0.0:0.0:0.7212	.	173	Q5GH70	XKR9_HUMAN	S	173	ENSP00000386141:C173S;ENSP00000431088:C173S	ENSP00000386141:C173S	C	+	1	0	XKR9	71808608	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.686000	0.37669	0.882000	0.36016	0.460000	0.39030	TGT		0.308	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		11	47	0	0	0	0.008291	0	11	47				
MSC	9242	broad.mit.edu	37	8	72756411	72756411	+	Start_Codon_SNP	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:72756411C>T	ENST00000325509.4	-	1	292	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	1					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.M1I(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGCCCGTGGACATCCCGTTGT	0.706																																							uc003xyx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		musculin							22.0	24.0	24.0					8																	72756411		1687	3521	5208	SO:0001582	initiator_codon_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756411C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.3G>A	8.37:g.72756411C>T	ENSP00000321445:p.Met1Ile					uc011lff.1_Intron|uc003xyy.2_RNA	p.M1I	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	321	-	Breast(64;0.176)		1					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.3G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301213	0.60195	.	.	ENSG00000178860	ENST00000325509	D	0.97811	-4.55	3.86	3.86	0.44501	.	0.163209	0.64402	D	0.000003	D	0.94228	0.8147	.	.	.	0.46396	D	0.999026	P	0.39480	0.675	B	0.27608	0.081	D	0.94411	0.7632	9	0.87932	D;D	0;0	.	11.6643	0.51364	0.0:0.9094:0.0:0.0906	.	1	O60682	MUSC_HUMAN	I	1	ENSP00000321445:M1I	ENSP00000321445:M1I;ENSP00000321445:M1I	M	-	3	0	MSC	72918965	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	1.315000	0.33608	1.964000	0.57103	0.561000	0.74099	ATG		0.706	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098	Missense_Mutation	6	28	0	0	0	0.004482	0	6	28				
ZFHX4	79776	broad.mit.edu	37	8	77766681	77766681	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:77766681G>T	ENST00000521891.2	+	10	7972	c.7524G>T	c.(7522-7524)tgG>tgT	p.W2508C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.W2482C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W2463C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W2463C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2463					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.W2492C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAACTCTGGCAGGAACACC	0.473										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7387-7389)TGG>TGT		zinc finger homeodomain 4							178.0	185.0	183.0					8																	77766681		2065	4226	6291	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766681G>T		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.7524G>T	8.37:g.77766681G>T	ENSP00000430497:p.Trp2508Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.W2508C|ZFHX4_uc003yaw.1_Missense_Mutation_p.W2463C	p.W2463C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7776	+			2463			C2H2-type 16.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7389G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464958	0.43839	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.42053	U	0.000761	T	0.57975	0.2090	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.99;0.996;0.998	T	0.62586	-0.6823	10	0.87932	D	0	.	18.3571	0.90361	0.0:0.0:1.0:0.0	.	2463;2463;2508	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2508;2492;2463;2463;2482	ENSP00000430497:W2508C;ENSP00000399605:W2463C;ENSP00000050961:W2463C;ENSP00000430848:W2482C	ENSP00000050961:W2463C	W	+	3	0	ZFHX4	77929236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.648000	0.98483	2.569000	0.86673	0.650000	0.86243	TGG		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		28	152	1	0	9.39395e-14	0.00632	1.26218e-13	28	152				
RALYL	138046	broad.mit.edu	37	8	85799963	85799963	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:85799963G>T	ENST00000521268.1	+	8	1915	c.810G>T	c.(808-810)atG>atT	p.M270I	RALYL_ENST00000523850.1_Missense_Mutation_p.M197I|RALYL_ENST00000521695.1_Missense_Mutation_p.M270I|RALYL_ENST00000517638.1_Missense_Mutation_p.M283I|RALYL_ENST00000522455.1_Missense_Mutation_p.M270I|RALYL_ENST00000518566.1_Missense_Mutation_p.M259I|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	270							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M270I(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGAAGAGATGACAGATGGGA	0.488																																							uc003ycq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(808-810)ATG>ATT		RALY RNA binding protein-like isoform 2							155.0	159.0	157.0					8																	85799963		2006	4175	6181	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799963G>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.810G>T	8.37:g.85799963G>T	ENSP00000430367:p.Met270Ile					RALYL_uc003ycr.3_Missense_Mutation_p.M270I|RALYL_uc003ycs.3_Missense_Mutation_p.M270I|RALYL_uc010lzy.2_Missense_Mutation_p.M259I|RALYL_uc003yct.3_Missense_Mutation_p.M283I|RALYL_uc003ycu.3_Missense_Mutation_p.M197I|RALYL_uc003ycv.3_Intron	p.M270I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			9	1226	+			270					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.810G>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531404	0.45073	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14516	2.91;2.91;2.91;2.9;2.9;2.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.57536	1.79	0.80722	D	1	B;B;B;B	0.13594	0.008;0.004;0.004;0.008	B;B;B;B	0.15484	0.011;0.013;0.013;0.011	T	0.02132	-1.1208	10	0.36615	T	0.2	-5.8763	19.3008	0.94143	0.0:0.0:1.0:0.0	.	259;197;283;270	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	I	270;270;270;259;283;197	ENSP00000430394:M270I;ENSP00000428667:M270I;ENSP00000430367:M270I;ENSP00000430065:M259I;ENSP00000430128:M283I;ENSP00000428807:M197I	ENSP00000430128:M283I	M	+	3	0	RALYL	85962518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.147000	0.89628	2.562000	0.86427	0.561000	0.74099	ATG		0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			13	128	1	0	3.27435e-08	0.00245	3.94915e-08	13	128				
OSGIN2	734	broad.mit.edu	37	8	90926858	90926858	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:90926858C>A	ENST00000297438.2	+	4	635	c.280C>A	c.(280-282)Cat>Aat	p.H94N	OSGIN2_ENST00000520659.1_Missense_Mutation_p.H138N|OSGIN2_ENST00000451899.2_Missense_Mutation_p.H138N	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	94					meiotic nuclear division (GO:0007126)			p.H94N(1)|p.H138N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TACACTTCTTCATCCAGATGC	0.433																																							uc003yeg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(280-282)CAT>AAT		oxidative stress induced growth inhibitor family							213.0	195.0	201.0					8																	90926858		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90926858C>A	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.280C>A	8.37:g.90926858C>A	ENSP00000297438:p.His94Asn					OSGIN2_uc003yeh.2_Missense_Mutation_p.H138N	p.H94N	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	626	+			94						Missense_Mutation	SNP	ENST00000297438.2	37	c.280C>A	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252657	0.80135	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.10288	2.89;2.89;2.89	5.74	4.87	0.63330	.	0.091374	0.85682	D	0.000000	T	0.34106	0.0886	M	0.77103	2.36	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.959	T	0.15521	-1.0434	10	0.66056	D	0.02	-20.019	15.0436	0.71811	0.0:0.9318:0.0:0.0682	.	138;94	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	N	94;138;138	ENSP00000297438:H94N;ENSP00000396445:H138N;ENSP00000431029:H138N	ENSP00000297438:H94N	H	+	1	0	OSGIN2	90996032	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.097000	0.71452	1.435000	0.47434	-0.194000	0.12790	CAT		0.433	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		5	133	1	0	0.00116845	0.001168	0.00125944	5	133				
PABPC1	26986	broad.mit.edu	37	8	101721762	101721762	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:101721762T>A	ENST00000318607.5	-	8	2298	c.1170A>T	c.(1168-1170)cgA>cgT	p.R390R	PABPC1_ENST00000522387.1_Silent_p.R358R|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.R345R	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	390					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)	p.R390R(1)		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)			TGGGAACAGCTCGTACACTTG	0.502																																							uc003yjs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1168-1170)CGA>CGT		poly(A) binding protein, cytoplasmic 1							161.0	138.0	146.0					8																	101721762		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.chr8:101721762T>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.1170A>T	8.37:g.101721762T>A						PABPC1_uc011lhc.1_Silent_p.R358R|PABPC1_uc011lhd.1_Silent_p.R345R|PABPC1_uc003yjt.1_Silent_p.R387R|PABPC1_uc003yju.2_RNA	p.R390R	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)		8	1674	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		390					Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.1170A>T	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.59|10.59	1.392739|1.392739	0.25118|0.25118	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403;ENST00000519100|ENST00000519596	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|.	.|.	.|.	.|.	T|T	0.61640|0.61640	0.2363|0.2363	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60480|0.60480	-0.7255|-0.7255	4|4	.|.	.|.	.|.	.|.	10.5675|10.5675	0.45181|0.45181	0.1439:0.0:0.0:0.8561|0.1439:0.0:0.0:0.8561	.|.	.|.	.|.	.|.	V|C	43;259|223	.|.	.|.	E|S	-|-	2|1	0|0	PABPC1|PABPC1	101790938|101790938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.978000|0.978000	0.29488|0.29488	2.083000|2.083000	0.62718|0.62718	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.502	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		25	157	0	0	0	0.00333	0	25	157				
NACAP1	83955	broad.mit.edu	37	8	102381147	102381147	+	RNA	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:102381147G>A	ENST00000419462.1	+	0	559					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		AATGCCTGGCGAAGCCACAGA	0.567																																							uc003ykc.1		NA																	0					0						c.(10-12)GAA>AAA		SubName: Full=NACAP1 protein;																																						83955							g.chr8:102381147G>A	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381147G>A						NACAP1_uc010mbs.1_RNA	p.E4K	NR_002182						1	27	+									Missense_Mutation	SNP	ENST00000419462.1	37	c.10G>A																																																																																					0.567	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		14	28	0	0	0	0.001855	0	14	28				
LRP12	29967	broad.mit.edu	37	8	105503299	105503299	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:105503299T>C	ENST00000276654.5	-	7	2290	c.2182A>G	c.(2182-2184)Agt>Ggt	p.S728G	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S709G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	728					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.S728G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGAGTGCACTTGTAAGCTGG	0.498																																							uc003yma.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2182-2184)AGT>GGT		low density lipoprotein-related protein 12							120.0	98.0	105.0					8																	105503299		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503299T>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2182A>G	8.37:g.105503299T>C	ENSP00000276654:p.Ser728Gly					LRP12_uc003ymb.2_Missense_Mutation_p.S709G|LRP12_uc003ylz.2_Missense_Mutation_p.S134G	p.S728G	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2277	-			728			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2182A>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.110427	0.37242	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.86230	-2.09;-2.0	5.28	5.28	0.74379	.	0.166047	0.64402	D	0.000007	T	0.82125	0.4969	L	0.27053	0.805	0.48395	D	0.99964	B;B	0.26147	0.143;0.088	B;B	0.30572	0.117;0.055	T	0.80783	-0.1228	10	0.66056	D	0.02	-22.4854	15.5225	0.75875	0.0:0.0:0.0:1.0	.	709;728	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	G	709;728;93	ENSP00000399148:S709G;ENSP00000276654:S728G	ENSP00000276654:S728G	S	-	1	0	LRP12	105572475	0.925000	0.31364	0.996000	0.52242	0.995000	0.86356	3.460000	0.53028	2.128000	0.65567	0.528000	0.53228	AGT		0.498	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		5	77	0	0	0	0.001984	0	5	77				
ANGPT1	284	broad.mit.edu	37	8	108334269	108334269	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:108334269G>C	ENST00000520734.1	-	3	348	c.63C>G	c.(61-63)ggC>ggG	p.G21G	ANGPT1_ENST00000520052.1_Silent_p.G21G|ANGPT1_ENST00000518386.1_5'Flank			Q15389	ANGP1_HUMAN	angiopoietin 1	221					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.G221G(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAGTAACCAAGCCTTGAAGGT	0.398																																							uc003ymn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(661-663)GGC>GGG		angiopoietin 1 precursor							191.0	176.0	181.0					8																	108334269		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334269G>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.63C>G	8.37:g.108334269G>C						ANGPT1_uc011lhv.1_Silent_p.G21G|ANGPT1_uc003ymo.2_Silent_p.G221G|ANGPT1_uc003ymp.3_Silent_p.G21G	p.G221G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		4	1131	-	Breast(1;5.06e-08)		221			Potential.		Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.663C>G																																																																																					0.398	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		6	89	0	0	0	0.001168	0	6	89				
NUDCD1	84955	broad.mit.edu	37	8	110255340	110255340	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:110255340T>C	ENST00000239690.4	-	10	2024	c.1650A>G	c.(1648-1650)ctA>ctG	p.L550L	NUDCD1_ENST00000427660.2_Silent_p.L521L	NM_032869.3	NP_116258.2			NudC domain containing 1									p.L550L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CATTGGTTTCTAGGCTTGCTA	0.378																																							uc003ynb.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1648-1650)CTA>CTG		NudC domain containing 1 isoform 1							226.0	214.0	218.0					8																	110255340		2203	4300	6503	SO:0001819	synonymous_variant	84955							g.chr8:110255340T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1650A>G	8.37:g.110255340T>C						NUDCD1_uc003yna.2_Silent_p.L521L|NUDCD1_uc010mcl.2_Silent_p.L463L	p.L550L	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		10	1761	-	all_neural(195;0.219)		550						Silent	SNP	ENST00000239690.4	37	c.1650A>G	CCDS6312.1																																																																																				0.378	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		79	271	0	0	0	0.00361	0	79	271				
MTBP	27085	broad.mit.edu	37	8	121483118	121483118	+	Missense_Mutation	SNP	A	A	C	rs375715273		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:121483118A>C	ENST00000305949.1	+	11	1151	c.1106A>C	c.(1105-1107)aAc>aCc	p.N369T		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	369					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.N369T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCACCTCCCAACCAACTCAGT	0.343																																							uc003ypc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1105-1107)AAC>ACC		Mdm2, transformed 3T3 cell double minute 2, p53							135.0	127.0	130.0					8																	121483118		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121483118A>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1106A>C	8.37:g.121483118A>C	ENSP00000303398:p.Asn369Thr					MTBP_uc011lie.1_RNA	p.N369T	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		11	1151	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		369					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1106A>C	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.405764	0.25378	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.08	-4.35	0.03656	.	0.628414	0.17425	N	0.174683	T	0.33962	0.0881	L	0.44542	1.39	0.24389	N	0.99476	B	0.26147	0.143	B	0.26969	0.075	T	0.27020	-1.0086	9	0.22109	T	0.4	-5.1196	13.219	0.59877	0.2964:0.0:0.7036:0.0	.	369	Q96DY7	MTBP_HUMAN	T	369	.	ENSP00000303398:N369T	N	+	2	0	MTBP	121552299	0.176000	0.23096	0.968000	0.41197	0.989000	0.77384	-0.992000	0.03724	-0.596000	0.05821	0.519000	0.50382	AAC		0.343	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		6	76	0	0	0	0.001168	0	6	76				
KLHL38	340359	broad.mit.edu	37	8	124664095	124664095	+	Missense_Mutation	SNP	G	G	C	rs201162881		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:124664095G>C	ENST00000325995.7	-	1	1095	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	358								p.L358V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGAGTTTCAGGGAGAAGATG	0.577																																							uc003yqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)CTG>GTG		kelch-like 38							65.0	66.0	65.0					8																	124664095		2016	4184	6200	SO:0001583	missense	340359							g.chr8:124664095G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1072C>G	8.37:g.124664095G>C	ENSP00000321475:p.Leu358Val						p.L358V	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	1096	-			358			Kelch 2.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1072C>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	7.644	0.681554	0.14907	.	.	ENSG00000175946	ENST00000325995	T	0.68025	-0.3	5.18	1.2	0.21068	Kelch-type beta propeller (1);	0.137493	0.49916	D	0.000140	T	0.63908	0.2551	M	0.84683	2.71	0.33907	D	0.639275	B	0.11235	0.004	B	0.12156	0.007	T	0.60627	-0.7226	10	0.34782	T	0.22	.	6.5522	0.22440	0.1382:0.0:0.6047:0.257	.	358	Q2WGJ6	KLH38_HUMAN	V	358	ENSP00000321475:L358V	ENSP00000321475:L358V	L	-	1	2	KLHL38	124733276	1.000000	0.71417	0.993000	0.49108	0.504000	0.33889	3.794000	0.55492	-0.006000	0.14370	0.561000	0.74099	CTG		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			30	56	0	0	0	0.004878	0	30	56				
OC90	729330	broad.mit.edu	37	8	133036911	133036912	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:133036911_133036912CC>AA	ENST00000443356.2	-	15	1384_1385	c.1298_1299GG>TT	c.(1297-1299)gGG>gTT	p.G433V	OC90_ENST00000254627.3_Missense_Mutation_p.G417V|OC90_ENST00000603859.1_Missense_Mutation_p.G417V|OC90_ENST00000262283.5_Missense_Mutation_p.G629V			Q02509	OC90_HUMAN	otoconin 90	433	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G391V(1)|p.G629V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCCCAGGGCACCCGAGTCTGCT	0.634																																							uc003ytg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1249-1251)GGG>GTT		otoconin 90																																				SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036911_133036912CC>AA	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1298_1299delinsAA	8.37:g.133036911_133036912delinsAA	ENSP00000390050:p.Gly433Val					OC90_uc011lix.1_Missense_Mutation_p.G417V	p.G417V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1250_1251	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		433			Phospholipase A2-like 3.		B4DNG8	Missense_Mutation	DNP	ENST00000443356.2	37	c.1250_1251GG>TT																																																																																					0.634	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		15	15	0	0	0	0.004672	0	15	15				
FAM135B	51059	broad.mit.edu	37	8	139209824	139209824	+	Missense_Mutation	SNP	C	C	T	rs201549461		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:139209824C>T	ENST00000395297.1	-	8	928	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	253								p.R253Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGGAGACCCCGGTAAGCGTG	0.607										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(757-759)CGG>CAG		hypothetical protein LOC51059		C	GLN/ARG	0,4314		0,0,2157	76.0	88.0	84.0		758	-3.5	0.9	8		84	6,8542		0,6,4268	yes	missense	FAM135B	NM_015912.3	43	0,6,6425	TT,TC,CC		0.0702,0.0,0.0466	benign	253/1407	139209824	6,12856	2157	4274	6431	SO:0001583	missense	51059							g.chr8:139209824C>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.758G>A	8.37:g.139209824C>T	ENSP00000378710:p.Arg253Gln	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R154Q|FAM135B_uc003yuz.2_RNA	p.R253Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	929	-	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)		253					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.758G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772024	0.31320	0.0	7.02E-4	ENSG00000147724	ENST00000395297	T	0.78816	-1.21	4.74	-3.45	0.04781	.	0.445538	0.23192	N	0.050899	T	0.57051	0.2027	N	0.17082	0.46	0.26480	N	0.975128	B	0.19200	0.034	B	0.10450	0.005	T	0.43669	-0.9377	10	0.41790	T	0.15	-2.7518	10.83	0.46654	0.0:0.2798:0.0:0.7202	.	253	Q49AJ0	F135B_HUMAN	Q	253	ENSP00000378710:R253Q	ENSP00000276737:R253Q	R	-	2	0	FAM135B	139279006	0.006000	0.16342	0.912000	0.35992	0.897000	0.52465	-0.820000	0.04457	-0.591000	0.05859	-0.251000	0.11542	CGG		0.607	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	58	0	0	0	0.004007	0	15	58				
TRAPPC9	83696	broad.mit.edu	37	8	141370270	141370270	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:141370270C>A	ENST00000438773.2	-	9	1507	c.1374G>T	c.(1372-1374)gcG>gcT	p.A458A	TRAPPC9_ENST00000389327.3_Silent_p.A449A|TRAPPC9_ENST00000389328.4_Silent_p.A556A	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	458					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.A556A(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCATCTGGACCGCAGCCCAGC	0.512																																							uc003yvj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1372-1374)GCG>GCT		trafficking protein particle complex 9 isoform							72.0	63.0	66.0					8																	141370270		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141370270C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1374G>T	8.37:g.141370270C>A						TRAPPC9_uc003yvh.2_Silent_p.A556A|TRAPPC9_uc003yvi.1_Silent_p.A449A	p.A458A	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			9	1508	-			458					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1374G>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187697	0.21870	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.62	-6.5	0.01884	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43988	-0.9357	4	.	.	.	.	1.8315	0.03131	0.4645:0.1547:0.2199:0.161	.	.	.	.	C	302	.	.	G	-	1	0	TRAPPC9	141439452	0.000000	0.05858	0.914000	0.36105	0.970000	0.65996	-3.554000	0.00433	-0.680000	0.05211	-1.193000	0.01689	GGT		0.512	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		16	42	1	0	1.15088e-07	0.004007	1.36725e-07	16	42				
CPSF1	29894	broad.mit.edu	37	8	145619449	145619449	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:145619449C>G	ENST00000349769.3	-	33	3905	c.3811G>C	c.(3811-3813)Gtg>Ctg	p.V1271L	CPSF1_ENST00000531727.1_Intron|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1271					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.V1271L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCCACATACCCAGAAAACCC	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3811-3813)GTG>CTG		cleavage and polyadenylation specific factor 1,							22.0	29.0	26.0					8																	145619449		2171	4258	6429	SO:0001630	splice_region_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145619449C>G	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3811+1G>C	8.37:g.145619449C>G						MIR939_hsa-mir-939|MI0005761_5'Flank	p.V1271L	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		33	3886	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1271					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3811G>C	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192831	0.58017	.	.	ENSG00000071894	ENST00000349769	T	0.45276	0.9	5.06	5.06	0.68205	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.73372	2.23	0.80722	D	1	B	0.28055	0.199	B	0.42214	0.38	T	0.51076	-0.8751	9	.	.	.	-35.4922	16.2654	0.82577	0.0:1.0:0.0:0.0	.	1271	Q10570	CPSF1_HUMAN	L	1271	ENSP00000339353:V1271L	.	V	-	1	0	CPSF1	145590257	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.284000	0.78650	2.514000	0.84764	0.555000	0.69702	GTG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	Missense_Mutation	6	27	0	0	0	0.001984	0	6	27				
FREM1	158326	broad.mit.edu	37	9	14776091	14776091	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:14776091G>T	ENST00000380880.3	-	25	5336	c.4553C>A	c.(4552-4554)gCc>gAc	p.A1518D	FREM1_ENST00000380881.4_Missense_Mutation_p.A1519D|FREM1_ENST00000380894.1_Missense_Mutation_p.A54D|FREM1_ENST00000422223.2_Missense_Mutation_p.A1518D|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1518					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.A1519D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGCCCCTTGGGCCAGTCTCAA	0.607																																							uc003zlm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4552-4554)GCC>GAC		FRAS1 related extracellular matrix 1 precursor							94.0	105.0	102.0					9																	14776091		1997	4151	6148	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14776091G>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4553C>A	9.37:g.14776091G>T	ENSP00000370262:p.Ala1518Asp					FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.A54D	p.A1518D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5143	-			1518			CSPG 11.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4553C>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793473	0.16327	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.70631	0.97;0.97;-0.5;0.97	6.16	-0.807	0.10872	.	0.766293	0.13009	N	0.421019	T	0.45377	0.1339	N	0.12961	0.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25187	-1.0139	10	0.11485	T	0.65	-1.159	7.2434	0.26109	0.6262:0.0:0.2584:0.1154	.	1518;54	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	D	1519;1518;54;1518	ENSP00000370263:A1519D;ENSP00000412940:A1518D;ENSP00000370278:A54D;ENSP00000370262:A1518D	ENSP00000370262:A1518D	A	-	2	0	FREM1	14766091	0.021000	0.18746	0.007000	0.13788	0.715000	0.41141	0.662000	0.25038	-0.331000	0.08501	0.650000	0.86243	GCC		0.607	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		14	91	1	0	1.5842e-08	0.001855	1.9402e-08	14	91				
PLAA	9373	broad.mit.edu	37	9	26928119	26928119	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:26928119T>C	ENST00000397292.3	-	4	961	c.544A>G	c.(544-546)Aga>Gga	p.R182G	PLAA_ENST00000520884.1_Missense_Mutation_p.R182G	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	182					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)	p.R125G(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTCTCACATCTTCCAGCCTTC	0.403																																					Melanoma(175;2670 2735 14091 35526)	Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(544-546)AGA>GGA		phospholipase A2-activating protein							152.0	145.0	147.0					9																	26928119		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26928119T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.544A>G	9.37:g.26928119T>C	ENSP00000380460:p.Arg182Gly					PLAA_uc003zqe.2_Missense_Mutation_p.R182G	p.R182G	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	4	969	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	182			WD 4.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.544A>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.184016|2.184016	0.38609|0.38609	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000523212|ENST00000397292;ENST00000520884	.|T;T	.|0.60299	.|0.2;0.2	5.93|5.93	4.75|4.75	0.60458|0.60458	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.045054	.|0.85682	.|D	.|0.000000	T|T	0.55226|0.55226	0.1907|0.1907	L|L	0.57130|0.57130	1.785|1.785	0.54753|0.54753	D|D	0.999982|0.999982	.|B;P	.|0.39044	.|0.023;0.656	.|B;B	.|0.39339	.|0.018;0.297	T|T	0.59643|0.59643	-0.7416|-0.7416	5|10	.|0.48119	.|T	.|0.1	-16.8913|-16.8913	13.3797|13.3797	0.60761|0.60761	0.0:0.0:0.1308:0.8692|0.0:0.0:0.1308:0.8692	.|.	.|182;182	.|E5RIM3;Q9Y263	.|.;PLAP_HUMAN	R|G	158|182	.|ENSP00000380460:R182G;ENSP00000429372:R182G	.|ENSP00000380460:R182G	K|R	-|-	2|1	0|2	PLAA|PLAA	26918119|26918119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.162000|4.162000	0.58177|0.58177	2.261000|2.261000	0.74972|0.74972	0.477000|0.477000	0.44152|0.44152	AAG|AGA		0.403	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		9	58	0	0	0	0.006214	0	9	58				
UNC13B	10497	broad.mit.edu	37	9	35310542	35310542	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:35310542T>C	ENST00000378495.3	+	9	1062	c.840T>C	c.(838-840)taT>taC	p.Y280Y	UNC13B_ENST00000396787.1_Silent_p.Y292Y|UNC13B_ENST00000378496.4_Silent_p.Y280Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	280					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.Y280Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAGACCAGTATCACGAACAAG	0.507																																							uc003zwq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(838-840)TAT>TAC		UNC13 (C. elegans)-like							129.0	126.0	127.0					9																	35310542		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35310542T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.840T>C	9.37:g.35310542T>C						UNC13B_uc010mkl.1_Silent_p.Y280Y|UNC13B_uc003zwr.2_Silent_p.Y280Y	p.Y280Y	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		9	1132	+	all_epithelial(49;0.212)		280					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.840T>C	CCDS6579.1																																																																																				0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		19	195	0	0	0	0.006122	0	19	195				
CNTNAP3	79937	broad.mit.edu	37	9	39086814	39086814	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:39086814G>A	ENST00000297668.6	-	20	3326	c.3253C>T	c.(3253-3255)Cat>Tat	p.H1085Y	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.H997Y|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.H1004Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1085	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1085Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGATTTTGATGTCTATCTAGC	0.323																																							uc004abi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3253-3255)CAT>TAT		cell recognition molecule CASPR3 precursor							4.0	4.0	4.0					9																	39086814		1789	3726	5515	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39086814G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3253C>T	9.37:g.39086814G>A	ENSP00000297668:p.His1085Tyr					CNTNAP3_uc004abj.2_Missense_Mutation_p.H1004Y|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.H1085Y	p.H1085Y	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	20	3492	-			1085			Laminin G-like 4.|Extracellular (Potential).		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.3253C>T	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.312083	0.00237	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.78707	-1.2;-1.2;-1.2	2.73	0.756	0.18421	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.59528	0.2200	N	0.20685	0.6	0.09310	N	1	B;B;B	0.12013	0.002;0.005;0.005	B;B;B	0.15052	0.007;0.005;0.012	T	0.44003	-0.9356	9	0.33141	T	0.24	.	5.7383	0.18079	0.1132:0.0:0.6965:0.1903	.	1085;1004;1085	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	Y	1085;1004;997	ENSP00000297668:H1085Y;ENSP00000366884:H1004Y;ENSP00000350863:H997Y	ENSP00000297668:H1085Y	H	-	1	0	CNTNAP3	39076814	0.992000	0.36948	0.007000	0.13788	0.749000	0.42624	1.676000	0.37565	0.048000	0.15891	0.306000	0.20318	CAT		0.323	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		16	33	0	0	0	0.006122	0	16	33				
ZNF658	26149	broad.mit.edu	37	9	40774115	40774115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:40774115C>G	ENST00000602553.1	-	5	1454	c.1160G>C	c.(1159-1161)gGg>gCg	p.G387A	ZNF658_ENST00000441795.1_Missense_Mutation_p.G385A|ZNF658_ENST00000377626.3_Missense_Mutation_p.G387A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G387A(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGCATTTCCCATGTTCATC	0.403																																							uc004abs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1159-1161)GGG>GCG		zinc finger protein 658							216.0	215.0	216.0					9																	40774115		2203	4300	6503	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774115C>G	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1160G>C	9.37:g.40774115C>G	ENSP00000473484:p.Gly387Ala					ZNF658_uc010mmm.1_Missense_Mutation_p.G387A|ZNF658_uc010mmn.1_Missense_Mutation_p.G387A	p.G387A	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1312	-			387			C2H2-type 3; degenerate.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1160G>C	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	10.94	1.492757	0.26774	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.22743	1.94;1.94	1.96	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21347	0.0514	N	0.25094	0.71	0.25182	N	0.990199	D;P	0.65815	0.995;0.634	P;B	0.59889	0.865;0.081	T	0.05162	-1.0902	9	0.07325	T	0.83	.	10.0063	0.41959	0.0:1.0:0.0:0.0	.	387;387	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	A	385;387	ENSP00000408462:G385A;ENSP00000366853:G387A	ENSP00000366853:G387A	G	-	2	0	ZNF658	40764115	0.000000	0.05858	0.019000	0.16419	0.101000	0.19017	-1.023000	0.03607	1.437000	0.47472	0.384000	0.25694	GGG		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		105	169	0	0	0	0.00361	0	105	169				
PRUNE2	158471	broad.mit.edu	37	9	79328486	79328486	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:79328486C>A	ENST00000376718.3	-	7	1031	c.908G>T	c.(907-909)tGc>tTc	p.C303F	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	303					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.C303F(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACCTGACTGCACAGCTCCAT	0.522																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(907-909)TGC>TTC		prune homolog 2							76.0	75.0	75.0					9																	79328486		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79328486C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.908G>T	9.37:g.79328486C>A	ENSP00000365908:p.Cys303Phe						p.C303F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			7	1032	-			303					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.908G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413830	0.83449	.	.	ENSG00000106772	ENST00000376718;ENST00000422033	T	0.47528	0.84	6.07	6.07	0.98685	DHHA2 (1);	.	.	.	.	T	0.65883	0.2734	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.61372	-0.7076	9	0.48119	T	0.1	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	303	Q8WUY3	PRUN2_HUMAN	F	303;302	ENSP00000365908:C303F	ENSP00000365908:C303F	C	-	2	0	PRUNE2	78518306	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.840000	0.55843	2.885000	0.99019	0.655000	0.94253	TGC		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	14	1	0	6.4e-05	0.004672	7.10182e-05	3	14				
TLE4	7091	broad.mit.edu	37	9	82340023	82340023	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:82340023G>T	ENST00000376552.2	+	20	3304	c.2286G>T	c.(2284-2286)ggG>ggT	p.G762G	TLE4_ENST00000265284.6_Silent_p.G737G|TLE4_ENST00000376520.4_Silent_p.G794G|TLE4_ENST00000376534.4_Silent_p.G399G|TLE4_ENST00000376544.3_Silent_p.G693G|TLE4_ENST00000376537.4_Silent_p.G794G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	762					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.G762G(1)|p.G794G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCTCTGGGGATAAGAAGG	0.408																																							uc004ald.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(2359-2361)GGG>GGT		transducin-like enhancer protein 4							108.0	106.0	106.0					9																	82340023		1979	4199	6178	SO:0001819	synonymous_variant	7091							g.chr9:82340023G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2286G>T	9.37:g.82340023G>T						TLE4_uc004alc.2_Silent_p.G762G|TLE4_uc010mpr.2_Silent_p.G641G|TLE4_uc004ale.2_Silent_p.G399G|TLE4_uc011lsq.1_Silent_p.G730G|TLE4_uc010mps.2_Silent_p.G686G|TLE4_uc004alf.2_Silent_p.G701G	p.G787G	NM_007005	NP_008936	O60756	BCE1_HUMAN			21	3210	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.2361G>T	CCDS43837.1																																																																																				0.408	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		14	52	1	0	0.00316338	0.003163	0.00338462	14	52				
NTRK2	4915	broad.mit.edu	37	9	87285692	87285692	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:87285692C>A	ENST00000323115.4	+	1	382	c.29C>A	c.(28-30)cCc>cAc	p.P10H	NTRK2_ENST00000376208.1_Missense_Mutation_p.P10H|NTRK2_ENST00000395882.1_Missense_Mutation_p.P10H|NTRK2_ENST00000359847.3_Missense_Mutation_p.P10H|NTRK2_ENST00000376213.1_Missense_Mutation_p.P10H|NTRK2_ENST00000277120.3_Missense_Mutation_p.P10H|NTRK2_ENST00000376214.1_Missense_Mutation_p.P10H|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000304053.6_Missense_Mutation_p.P10H			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	10					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)	p.P10H(3)		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)	TGGCATGGACCCGCCATGGCG	0.682										TSP Lung(25;0.17)																													uc004aoa.1		NA																	3	Substitution - Missense(3)		lung(3)	lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(28-30)CCC>CAC		neurotrophic tyrosine kinase, receptor, type 2							89.0	100.0	97.0					9																	87285692		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.chr9:87285692C>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.29C>A	9.37:g.87285692C>A	ENSP00000314586:p.Pro10His	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Missense_Mutation_p.P10H|NTRK2_uc004any.1_Missense_Mutation_p.P10H|NTRK2_uc004anz.1_Missense_Mutation_p.P10H|NTRK2_uc011lsz.1_Missense_Mutation_p.P10H|NTRK2_uc011lta.1_Missense_Mutation_p.P10H|NTRK2_uc004aob.1_Missense_Mutation_p.P10H|NTRK2_uc011ltb.1_5'Flank	p.P10H	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			4	967	+			10					B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.29C>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454842	0.63290	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.45;-0.45;-0.42;-0.83;-0.83;-0.45	5.01	4.12	0.48240	.	0.319376	0.31210	N	0.008052	T	0.76884	0.4050	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.976;0.999;0.99;0.864;0.936;0.998;0.996	T	0.78401	-0.2218	10	0.51188	T	0.08	.	13.3692	0.60703	0.0:0.9231:0.0:0.0769	.	10;10;10;10;10;56;10	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	H	10	ENSP00000365387:P10H;ENSP00000365386:P10H;ENSP00000379221:P10H;ENSP00000365381:P10H;ENSP00000306167:P10H;ENSP00000277120:P10H;ENSP00000314586:P10H;ENSP00000352906:P10H	ENSP00000277120:P10H	P	+	2	0	NTRK2	86475512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.360000	0.52299	1.332000	0.45431	0.561000	0.74099	CCC		0.682	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			50	59	1	0	3.19069e-20	0.00361	4.66043e-20	50	59				
CENPP	401541	broad.mit.edu	37	9	95142109	95142109	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:95142109G>C	ENST00000375587.3	+	5	1047	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	178					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E178Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GGAGTGGTTTGAATATCGTAA	0.323																																							uc004arz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(532-534)GAA>CAA		centromere protein P							171.0	170.0	170.0					9																	95142109		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95142109G>C	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.532G>C	9.37:g.95142109G>C	ENSP00000364737:p.Glu178Gln					CENPP_uc010mqx.2_Missense_Mutation_p.E66Q|CENPP_uc004ary.1_Missense_Mutation_p.E178Q	p.E178Q	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			5	1072	+			178					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.532G>C	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524992	0.85600	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	4.92	4.92	0.64577	.	0.184033	0.33854	N	0.004495	T	0.73418	0.3584	L	0.50333	1.59	0.80722	D	1	D;D	0.62365	0.991;0.977	P;P	0.62089	0.898;0.812	T	0.75566	-0.3273	9	0.59425	D	0.04	-9.267	18.5051	0.90894	0.0:0.0:1.0:0.0	.	178;137	Q6IPU0;Q7Z672	CENPP_HUMAN;.	Q	178;137	.	ENSP00000364737:E178Q	E	+	1	0	CENPP	94181930	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.889000	0.48601	2.447000	0.82792	0.563000	0.77884	GAA		0.323	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		23	34	0	0	0	0.002299	0	23	34				
GRIN3A	116443	broad.mit.edu	37	9	104335671	104335671	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:104335671C>T	ENST00000361820.3	-	9	3733	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1045					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D1045N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGGGGGATGTCCTGGTGGATC	0.512																																							uc004bbp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3133-3135)GAC>AAC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						149.0	135.0	140.0					9																	104335671		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335671C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3133G>A	9.37:g.104335671C>T	ENSP00000355155:p.Asp1045Asn					GRIN3A_uc004bbo.1_Missense_Mutation_p.D120N	p.D1045N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			9	3734	-		Acute lymphoblastic leukemia(62;0.0568)	1045			Cytoplasmic (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3133G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796600	0.50208	.	.	ENSG00000198785	ENST00000361820	T	0.13196	2.61	5.46	4.55	0.56014	.	1.699100	0.02617	N	0.102799	T	0.14313	0.0346	N	0.22421	0.69	0.40025	D	0.975469	B	0.09022	0.002	B	0.08055	0.003	T	0.08126	-1.0737	10	0.39692	T	0.17	.	14.001	0.64433	0.0:0.927:0.0:0.073	.	1045	Q8TCU5	NMD3A_HUMAN	N	1045	ENSP00000355155:D1045N	ENSP00000355155:D1045N	D	-	1	0	GRIN3A	103375492	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.359000	0.52292	2.728000	0.93425	0.655000	0.94253	GAC		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			5	90	0	0	0	0.001168	0	5	90				
GRIN3A	116443	broad.mit.edu	37	9	104499662	104499662	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:104499662G>T	ENST00000361820.3	-	1	1200	c.600C>A	c.(598-600)ccC>ccA	p.P200P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	200					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P200P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCTGGCTCTGGGGGAAGGCGA	0.597																																							uc004bbp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(598-600)CCC>CCA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						82.0	76.0	78.0					9																	104499662		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499662G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.600C>A	9.37:g.104499662G>T						GRIN3A_uc004bbq.1_Silent_p.P200P	p.P200P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1201	-		Acute lymphoblastic leukemia(62;0.0568)	200			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.600C>A	CCDS6758.1																																																																																				0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			15	20	1	0	6.31663e-08	0.003163	7.59738e-08	15	20				
SVEP1	79987	broad.mit.edu	37	9	113265405	113265405	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:113265405A>T	ENST00000401783.2	-	6	1732	c.1396T>A	c.(1396-1398)Tgt>Agt	p.C466S	SVEP1_ENST00000374461.1_Missense_Mutation_p.C443S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.C466S|SVEP1_ENST00000374469.1_Missense_Mutation_p.C443S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	466	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C466S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTCATCACAGGCAACCAAA	0.463																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(1396-1398)TGT>AGT		polydom							162.0	161.0	161.0					9																	113265405		1982	4156	6138	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265405A>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1396T>A	9.37:g.113265405A>T	ENSP00000384917:p.Cys466Ser					SVEP1_uc010mua.1_Missense_Mutation_p.C466S|SVEP1_uc004beu.2_Missense_Mutation_p.C466S	p.C466S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			6	1733	-			466			Sushi 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1396T>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632338	0.87660	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73	5.52	5.52	0.82312	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.96096	0.9065	10	0.87932	D	0	.	15.6589	0.77165	1.0:0.0:0.0:0.0	.	466;466;466	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	466;443;466;443	ENSP00000384917:C466S;ENSP00000363593:C443S;ENSP00000304118:C466S;ENSP00000363585:C443S	ENSP00000304118:C466S	C	-	1	0	SVEP1	112305226	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	8.516000	0.90552	2.091000	0.63221	0.533000	0.62120	TGT		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	60	0	0	0	0.00874	0	43	60				
PAPPA	5069	broad.mit.edu	37	9	118950340	118950340	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:118950340C>A	ENST00000328252.3	+	2	1692	c.1323C>A	c.(1321-1323)cgC>cgA	p.R441R	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	441	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)	p.R441R(1)		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						GGGATTGCCGCCACCTGCGCC	0.587																																							uc004bjn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(1321-1323)CGC>CGA		pregnancy-associated plasma protein A							76.0	56.0	63.0					9																	118950340		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950340C>A		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.1323C>A	9.37:g.118950340C>A						PAPPA_uc011lxp.1_Silent_p.R234R|PAPPA_uc011lxq.1_Silent_p.R234R	p.R441R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1704	+			441			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1323C>A	CCDS6813.1																																																																																				0.587	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		12	16	1	0	2.27111e-07	0.001368	2.68348e-07	12	16				
ASTN2	23245	broad.mit.edu	37	9	119858333	119858333	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:119858333G>T	ENST00000313400.4	-	5	1366	c.1266C>A	c.(1264-1266)cgC>cgA	p.R422R	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.R422R|ASTN2_ENST00000361209.2_Silent_p.R371R|AL354981.1_ENST00000583553.1_RNA			O75129	ASTN2_HUMAN	astrotactin 2	422					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R371R(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTTGCTGCGGCGGCGACTGC	0.502																																							uc004bjs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1264-1266)CGC>CGA		astrotactin 2 isoform c							111.0	91.0	98.0					9																	119858333		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119858333G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1266C>A	9.37:g.119858333G>T						ASTN2_uc004bjr.1_Silent_p.R422R|ASTN2_uc004bjt.1_Silent_p.R371R	p.R422R	NM_198187	NP_937830	O75129	ASTN2_HUMAN			5	1367	-			422			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1266C>A																																																																																					0.502	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		20	34	1	0	6.33239e-15	0.010504	8.66851e-15	20	34				
ASTN2	23245	broad.mit.edu	37	9	120053691	120053691	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:120053691G>T	ENST00000313400.4	-	2	644	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	ASTN2_ENST00000361209.2_Missense_Mutation_p.Q182K|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q182K			O75129	ASTN2_HUMAN	astrotactin 2	182					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Q182K(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGGCCAGCTGCCCGGAGCTG	0.602																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(544-546)CAG>AAG		astrotactin 2 isoform c							62.0	61.0	62.0					9																	120053691		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:120053691G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.544C>A	9.37:g.120053691G>T	ENSP00000314038:p.Gln182Lys					ASTN2_uc004bjr.1_Missense_Mutation_p.Q182K|ASTN2_uc004bjt.1_Missense_Mutation_p.Q182K	p.Q182K	NM_198187	NP_937830	O75129	ASTN2_HUMAN			2	645	-			182			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.544C>A		.	.	.	.	.	.	.	.	.	.	G	17.33	3.362804	0.61403	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.09630	2.98;2.98;2.96	5.58	5.58	0.84498	.	0.192783	0.37053	N	0.002280	T	0.11239	0.0274	N	0.24115	0.695	0.43259	D	0.995195	B;B;P	0.48834	0.235;0.255;0.916	B;B;B	0.43867	0.062;0.071;0.434	T	0.12863	-1.0531	9	.	.	.	-27.4368	19.9456	0.97181	0.0:0.0:1.0:0.0	.	182;182;182	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	K	182	ENSP00000314038:Q182K;ENSP00000363108:Q182K;ENSP00000354504:Q182K	.	Q	-	1	0	ASTN2	119093512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.534000	0.73833	2.782000	0.95742	0.655000	0.94253	CAG		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		43	33	1	0	1.8453e-21	0.002522	2.72729e-21	43	33				
TLR4	7099	broad.mit.edu	37	9	120475277	120475277	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:120475277G>C	ENST00000355622.6	+	3	972	c.871G>C	c.(871-873)Gca>Cca	p.A291P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A251P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	291					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A291T(1)|p.A291P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATTCCGATTAGCATACTTAGA	0.353																																							uc004bjz.2		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(871-873)GCA>CCA		toll-like receptor 4 precursor							94.0	99.0	97.0					9																	120475277		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475277G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.871G>C	9.37:g.120475277G>C	ENSP00000363089:p.Ala291Pro					TLR4_uc004bka.2_Missense_Mutation_p.A251P|TLR4_uc004bkb.2_Missense_Mutation_p.A91P	p.A291P	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1162	+			291			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.871G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593171	0.46214	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38722	1.43;1.12	5.78	2.92	0.33932	.	0.478464	0.21277	N	0.077219	T	0.54532	0.1864	L	0.59436	1.845	0.09310	N	1	P	0.45531	0.86	P	0.57548	0.823	T	0.49082	-0.8976	10	0.59425	D	0.04	.	12.1884	0.54254	0.282:0.0:0.718:0.0	.	291	O00206	TLR4_HUMAN	P	251;291	ENSP00000377997:A251P;ENSP00000363089:A291P	ENSP00000363089:A291P	A	+	1	0	TLR4	119515098	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.652000	0.24888	0.090000	0.17273	-0.797000	0.03246	GCA		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		39	60	0	0	0	0.00623	0	39	60				
SWI5	375757	broad.mit.edu	37	9	131038432	131038432	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:131038432G>T	ENST00000320188.5	+	1	8	c.8G>T	c.(7-9)cGg>cTg	p.R3L	SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000490628.1_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	3					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.R3L(1)									GCTATGCAGCGGCGTGGCCAG	0.637																																							uc004bup.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)CGG>CTG		hypothetical protein LOC375757							49.0	59.0	56.0					9																	131038432		2042	4137	6179	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038432G>T	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.8G>T	9.37:g.131038432G>T	ENSP00000316609:p.Arg3Leu					GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.R3L	p.R3L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			1	8	+			3					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.8G>T	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431893	0.43122	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.1	-7.62	0.01294	.	.	.	.	.	T	0.15522	0.0374	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28713	-1.0035	8	0.87932	D	0	.	2.668	0.05058	0.1992:0.2324:0.405:0.1635	.	3	Q1ZZU3	SWI5_HUMAN	L	3	.	ENSP00000316609:R3L	R	+	2	0	SWI5	130078253	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.745000	0.04834	-1.344000	0.02216	-0.903000	0.02851	CGG		0.637	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		27	57	1	0	2.12542e-12	0.00632	2.79964e-12	27	57				
AK8	158067	broad.mit.edu	37	9	135690074	135690074	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:135690074C>A	ENST00000298545.3	-	10	1451	c.930G>T	c.(928-930)agG>agT	p.R310S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	310	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.R310S(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAAACGTGGTCCTATCTGCCA	0.498																																							uc004cbu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(928-930)AGG>AGT		putative adenylate kinase-like protein C9orf98							86.0	76.0	79.0					9																	135690074		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135690074C>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.930G>T	9.37:g.135690074C>A	ENSP00000298545:p.Arg310Ser					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.R106S	p.R310S	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	10	1486	-			310			Adenylate kinase.		A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.930G>T	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	1.089	-0.664580	0.03428	.	.	ENSG00000165695	ENST00000298545	T	0.75821	-0.97	5.33	0.711	0.18162	.	0.881458	0.10153	N	0.709308	T	0.55273	0.1910	N	0.12637	0.245	0.09310	N	1	B	0.23990	0.095	B	0.33121	0.158	T	0.50197	-0.8856	10	0.49607	T	0.09	-16.1796	3.1556	0.06503	0.112:0.4776:0.1996:0.2109	.	310	Q96MA6	KAD8_HUMAN	S	310	ENSP00000298545:R310S	ENSP00000298545:R310S	R	-	3	2	AK8	134679895	0.967000	0.33354	0.002000	0.10522	0.129000	0.20672	0.475000	0.22164	0.207000	0.20607	0.563000	0.77884	AGG		0.498	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		28	39	1	0	2.23313e-29	0.002445	3.46492e-29	28	39				
AK8	158067	broad.mit.edu	37	9	135704074	135704075	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:135704074_135704075CC>AA	ENST00000298545.3	-	6	962_963	c.441_442GG>TT	c.(439-444)caGGct>caTTct	p.147_148QA>HS	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	147	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.Q147_A148>HS(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATCCTCAGAGCCTGCTCACGCG	0.545																																							uc004cbu.1		NA																	2	Complex - compound substitution(2)		lung(2)		0						c.(439-444)CAGGCT>CATTCT		putative adenylate kinase-like protein C9orf98																																				SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135704074_135704075CC>AA	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.441_442delinsAA	9.37:g.135704074_135704075delinsAA	ENSP00000298545:p.Q147_A148delinsHS					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	p.147_148QA>HS	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	6	997_998	-			147_148					A8K821|Q8N9W9	Missense_Mutation	DNP	ENST00000298545.3	37	c.441_442GG>TT	CCDS6954.1																																																																																				0.545	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		6	8	0	0	0	0.004672	0	6	8				
FAM166A	401565	broad.mit.edu	37	9	140139769	140139769	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:140139769C>T	ENST00000344774.4	-	3	566	c.512G>A	c.(511-513)aGg>aAg	p.R171K	FAM166A_ENST00000388932.2_Missense_Mutation_p.R171K	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	171						nucleus (GO:0005634)		p.R171K(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTGGTGCTGCCTGGGGGCCTC	0.667																																							uc004cmi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)AGG>AAG		hypothetical protein LOC401565							56.0	56.0	56.0					9																	140139769		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140139769C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.512G>A	9.37:g.140139769C>T	ENSP00000344729:p.Arg171Lys						p.R171K	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			3	567	-			171					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.512G>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	1.646	-0.515342	0.04200	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	0.97	0.19692	.	0.730540	0.12515	N	0.462103	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.31447	-0.9943	9	0.05721	T	0.95	-8.6989	3.5443	0.07823	0.2973:0.4743:0.1444:0.0841	.	171	Q6J272	F166A_HUMAN	K	171;171;198	.	ENSP00000344729:R171K	R	-	2	0	FAM166A	139259590	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.101000	0.03336	0.181000	0.19994	0.561000	0.74099	AGG		0.667	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		24	29	0	0	0	0.00278	0	24	29				
CLCN4	1183	broad.mit.edu	37	X	10181855	10181855	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:10181855A>G	ENST00000380833.4	+	11	2102	c.1711A>G	c.(1711-1713)Atc>Gtc	p.I571V	AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000421085.2_Missense_Mutation_p.I477V|CLCN4_ENST00000380829.1_Missense_Mutation_p.I540V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	571					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I571V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAAGAAGGCATCTACGAGGC	0.567																																					Melanoma(74;1050 1296 1576 30544 38374)	Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1711-1713)ATC>GTC		chloride channel 4							129.0	90.0	103.0					X																	10181855		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10181855A>G	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1711A>G	X.37:g.10181855A>G	ENSP00000370213:p.Ile571Val					CLCN4_uc011mid.1_Missense_Mutation_p.I477V	p.I571V	NM_001830	NP_001821	P51793	CLCN4_HUMAN			11	2141	+			571			Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1711A>G	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003591	0.74932	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94457	-3.43;-3.43;-3.43	5.28	5.28	0.74379	Chloride channel, core (2);	0.048874	0.85682	D	0.000000	D	0.94355	0.8185	M	0.84585	2.705	0.80722	D	1	B	0.29805	0.257	B	0.27608	0.081	D	0.93481	0.6827	10	0.59425	D	0.04	-38.6945	14.3586	0.66754	1.0:0.0:0.0:0.0	.	571	P51793	CLCN4_HUMAN	V	571;540;477	ENSP00000370213:I571V;ENSP00000370209:I540V;ENSP00000405754:I477V	ENSP00000370209:I540V	I	+	1	0	CLCN4	10141855	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.253000	0.78320	1.771000	0.52183	0.486000	0.48141	ATC		0.567	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			34	22	0	0	0	0.002836	0	34	22				
CNKSR2	22866	broad.mit.edu	37	X	21609267	21609267	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:21609267G>T	ENST00000379510.3	+	15	1821	c.1785G>T	c.(1783-1785)tgG>tgT	p.W595C	CNKSR2_ENST00000543067.1_Missense_Mutation_p.W546C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.W595C|CNKSR2_ENST00000425654.2_Missense_Mutation_p.W565C	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	595	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.W595C(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAAATATTGGTTTGTCCTAA	0.363																																							uc004czx.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1783-1785)TGG>TGT		connector enhancer of kinase suppressor of Ras							108.0	103.0	105.0					X																	21609267		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609267G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1785G>T	X.37:g.21609267G>T	ENSP00000368824:p.Trp595Cys					CNKSR2_uc004czw.2_Missense_Mutation_p.W595C|CNKSR2_uc011mjn.1_Missense_Mutation_p.W546C|CNKSR2_uc011mjo.1_Missense_Mutation_p.W565C|CNKSR2_uc004czy.2_Missense_Mutation_p.W187C	p.W595C	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			15	1821	+			595			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1785G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162365	0.78226	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.83505	0.0077	10	0.87932	D	0	-15.4744	18.1345	0.89614	0.0:0.0:1.0:0.0	.	565;546;187;595	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	C	565;546;595;595	ENSP00000397906:W565C;ENSP00000444633:W546C;ENSP00000279451:W595C;ENSP00000368824:W595C	ENSP00000279451:W595C	W	+	3	0	CNKSR2	21519188	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.219000	0.72066	0.523000	0.50628	TGG		0.363	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		46	51	1	0	2.43468e-25	0.00361	3.68584e-25	46	51				
DCAF8L1	139425	broad.mit.edu	37	X	27999166	27999166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:27999166C>A	ENST00000441525.1	-	1	400	c.286G>T	c.(286-288)Gag>Tag	p.E96*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	96	Glu-rich.							p.E96*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCTGTCTCCTCTCCCACTAAC	0.498																																							uc004dbx.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(286-288)GAG>TAG		DDB1 and CUL4 associated factor 8-like 1							150.0	105.0	121.0					X																	27999166		2202	4300	6502	SO:0001587	stop_gained	139425							g.chrX:27999166C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.286G>T	X.37:g.27999166C>A	ENSP00000405222:p.Glu96*						p.E96*	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	401	-			96			Glu-rich.		B3KXX1	Nonsense_Mutation	SNP	ENST00000441525.1	37	c.286G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002164	0.74932	.	.	ENSG00000226372	ENST00000441525	.	.	.	0.775	0.775	0.18527	.	1.367080	0.04767	N	0.427476	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.4001	7.1447	0.25577	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	96	.	ENSP00000405222:E96X	E	-	1	0	DCAF8L1	27909087	0.623000	0.27094	0.004000	0.12327	0.384000	0.30261	0.366000	0.20365	0.650000	0.30769	0.179000	0.17066	GAG		0.498	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		51	44	1	0	4.86159e-25	0.00361	7.34716e-25	51	44				
DMD	1756	broad.mit.edu	37	X	32632526	32632526	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:32632526T>A	ENST00000357033.4	-	12	1582	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	DMD_ENST00000288447.4_Missense_Mutation_p.E451V|DMD_ENST00000378677.2_Missense_Mutation_p.E455V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	459					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E459V(1)|p.E454V(1)|p.E455V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATTCAACTCTTTCAGTTT	0.363																																							uc004dda.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1375-1377)GAG>GTG		dystrophin Dp427m isoform							209.0	168.0	182.0					X																	32632526		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32632526T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1376A>T	X.37:g.32632526T>A	ENSP00000354923:p.Glu459Val					DMD_uc004dcz.2_Missense_Mutation_p.E336V|DMD_uc004dcy.1_Missense_Mutation_p.E455V|DMD_uc004ddb.1_Missense_Mutation_p.E451V|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E451V|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	p.E459V	NM_004006	NP_003997	P11532	DMD_HUMAN			12	1620	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	459			Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1376A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039421	0.55003	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.56275	0.47;0.47;0.47	5.62	4.45	0.53987	.	0.234869	0.21115	U	0.079916	T	0.37999	0.1024	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.35821	0.523;0.144;0.01;0.174	B;B;B;B	0.40199	0.322;0.157;0.055;0.243	T	0.38001	-0.9681	10	0.59425	D	0.04	.	9.3511	0.38138	0.0:0.0868:0.0:0.9132	.	451;451;459;455	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	V	451;455;459;459;336;451	ENSP00000367948:E455V;ENSP00000354923:E459V;ENSP00000288447:E451V	ENSP00000288447:E451V	E	-	2	0	DMD	32542447	1.000000	0.71417	0.989000	0.46669	0.938000	0.57974	4.713000	0.61895	1.990000	0.58119	0.481000	0.45027	GAG		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	20	0	0	0	0.001168	0	6	20				
LANCL3	347404	broad.mit.edu	37	X	37526534	37526535	+	Splice_Site	DNP	GG	GG	TT			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:37526534_37526535GG>TT	ENST00000378619.3	+	4	1114_1115	c.895_896GG>TT	c.(895-897)GGa>TTa	p.G299L	LANCL3_ENST00000378621.3_Splice_Site_p.G299L|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	299							catalytic activity (GO:0003824)	p.?(2)		lung(4)|pancreas(1)	5						TGTTTTCACAGGAATTGCCTAT	0.431																																							uc011mkd.1		NA																	2	Unknown(2)		lung(2)		0						c.e4-1		LanC lantibiotic synthetase component C-like 3																																				SO:0001630	splice_region_variant	347404						catalytic activity	g.chrX:37526534_37526535GG>TT	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	Exception_encountered	X.37:g.37526534_37526535delinsTT						LANCL3_uc004ddp.1_Splice_Site_p.G299_splice	p.G299_splice	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN			4	1198	+								A6NHE3	Splice_Site	DNP	ENST00000378619.3	37	c.896_splice	CCDS55398.1																																																																																				0.431	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511	Missense_Mutation	19	14	0	0	0	0.004672	0	19	14				
ZNF630	57232	broad.mit.edu	37	X	47918444	47918444	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:47918444C>A	ENST00000409324.3	-	5	1613	c.1387G>T	c.(1387-1389)Gac>Tac	p.D463Y	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.D449Y|ZNF630_ENST00000276054.4_Missense_Mutation_p.D339Y	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D463Y(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTCCCACAGTCAGTACACACA	0.433																																							uc004div.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1387-1389)GAC>TAC		zinc finger protein 630							68.0	66.0	67.0					X																	47918444		2194	4288	6482	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918444C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1387G>T	X.37:g.47918444C>A	ENSP00000386393:p.Asp463Tyr					ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.D339Y	p.D463Y	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			5	1639	-			463			C2H2-type 8.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1387G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	7.945	0.743558	0.15642	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.07327	3.2;3.2;3.2	2.38	0.378	0.16204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.04994	-0.135	0.09310	N	1	B	0.29862	0.259	B	0.25291	0.059	T	0.40327	-0.9569	9	0.72032	D	0.01	.	4.6497	0.12589	0.0:0.6262:0.2228:0.151	.	463	Q2M218	ZN630_HUMAN	Y	449;339;463	ENSP00000393163:D449Y;ENSP00000354683:D339Y;ENSP00000386393:D463Y	ENSP00000354683:D339Y	D	-	1	0	ZNF630	47803388	0.000000	0.05858	0.001000	0.08648	0.357000	0.29423	0.029000	0.13666	-0.125000	0.11703	0.534000	0.68092	GAC		0.433	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		16	16	1	0	3.52763e-06	0.00499	4.06353e-06	16	16				
FTSJ1	24140	broad.mit.edu	37	X	48339578	48339578	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:48339578A>C	ENST00000348411.2	+	6	724	c.401A>C	c.(400-402)cAg>cCg	p.Q134P	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.Q134P|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000019019.2_Missense_Mutation_p.Q134P	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)									p.Q134P(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						ATGCAGGCCCAGCTCCTCCTA	0.592																																							uc004djo.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CAG>CCG		FtsJ homolog 1 isoform a							109.0	78.0	88.0					X																	48339578		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48339578A>C	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.401A>C	X.37:g.48339578A>C	ENSP00000326948:p.Gln134Pro					FTSJ1_uc004djl.2_Missense_Mutation_p.Q134P|FTSJ1_uc004djm.2_Missense_Mutation_p.Q134P|FTSJ1_uc004djn.1_Missense_Mutation_p.Q134P|FTSJ1_uc004djp.1_Missense_Mutation_p.Q134P|FTSJ1_uc011mlw.1_Intron	p.Q134P	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			6	724	+			134						Missense_Mutation	SNP	ENST00000348411.2	37	c.401A>C	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	a	11.78	1.741319	0.30865	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33865	1.39;1.39;1.39	4.47	3.28	0.37604	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.215931	0.40554	N	0.001061	T	0.58736	0.2143	M	0.85542	2.76	0.80722	D	1	D;P;D	0.89917	1.0;0.921;0.994	D;P;D	0.80764	0.994;0.863;0.961	T	0.59768	-0.7392	10	0.87932	D	0	-42.9835	7.3381	0.26621	0.7789:0.2211:0.0:0.0	.	134;134;134	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	P	134	ENSP00000019019:Q134P;ENSP00000326948:Q134P;ENSP00000415457:Q134P	ENSP00000019019:Q134P	Q	+	2	0	FTSJ1	48224522	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.448000	0.80631	0.669000	0.31146	-0.565000	0.04167	CAG		0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			15	14	0	0	0	0.004007	0	15	14				
PCDH11X	27328	broad.mit.edu	37	X	91873528	91873528	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:91873528A>G	ENST00000373094.1	+	7	4478	c.3633A>G	c.(3631-3633)ccA>ccG	p.P1211P	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1203P|PCDH11X_ENST00000373097.1_Silent_p.P1201P|PCDH11X_ENST00000373088.1_Silent_p.P1174P|PCDH11X_ENST00000361655.2_Silent_p.P1193P|PCDH11X_ENST00000298274.8_Silent_p.P1174P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1211					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1211P(1)		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						GCCACAGCCCACCACCGATAC	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(3631-3633)CCA>CCG		protocadherin 11 X-linked isoform c							172.0	134.0	147.0					X																	91873528		2203	4297	6500	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873528A>G	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.3633A>G	X.37:g.91873528A>G						PCDH11X_uc004efl.1_Silent_p.P1201P|PCDH11X_uc004efo.1_Silent_p.P1174P|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.P1203P|PCDH11X_uc004efn.1_Silent_p.P1193P	p.P1211P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4478	+			1211			Cytoplasmic (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.3633A>G	CCDS14461.1																																																																																				0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		10	60	0	0	0	0.008291	0	10	60				
NAP1L3	4675	broad.mit.edu	37	X	92926929	92926929	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:92926929C>T	ENST00000373079.3	-	1	1638	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.D452N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	459					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.D459N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGGATAGCATCTTCTCGTGGT	0.393																																							uc004efq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1375-1377)GAT>AAT		nucleosome assembly protein 1-like 3							73.0	60.0	64.0					X																	92926929		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926929C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1375G>A	X.37:g.92926929C>T	ENSP00000362171:p.Asp459Asn					FAM133A_uc004efr.1_5'Flank	p.D459N	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1680	-			459					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1375G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669036	0.47677	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.47177	0.85	3.42	3.42	0.39159	.	0.051450	0.85682	D	0.000000	T	0.48926	0.1527	N	0.20610	0.595	0.34982	D	0.754168	D	0.89917	1.0	D	0.72982	0.979	T	0.60224	-0.7305	10	0.54805	T	0.06	.	9.4677	0.38822	0.0:1.0:0.0:0.0	.	459	Q99457	NP1L3_HUMAN	N	459;452	ENSP00000362171:D459N	ENSP00000362171:D459N	D	-	1	0	NAP1L3	92813585	1.000000	0.71417	0.953000	0.39169	0.985000	0.73830	3.953000	0.56699	1.976000	0.57569	0.529000	0.55759	GAT		0.393	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		8	14	0	0	0	0.00308	0	8	14				
DIAPH2	1730	broad.mit.edu	37	X	96200587	96200587	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:96200587G>C	ENST00000324765.8	+	14	1853	c.1506G>C	c.(1504-1506)aaG>aaC	p.K502N	DIAPH2_ENST00000373049.4_Missense_Mutation_p.K502N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K498N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K502N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K502N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	502					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.K502N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGTTTTCAAAGAAGGTAAGCT	0.303																																							uc004efu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1504-1506)AAG>AAC		diaphanous 2 isoform 156							59.0	58.0	58.0					X																	96200587		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96200587G>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1506G>C	X.37:g.96200587G>C	ENSP00000321348:p.Lys502Asn					DIAPH2_uc004eft.3_Missense_Mutation_p.K502N	p.K502N	NM_006729	NP_006720	O60879	DIAP2_HUMAN			14	1902	+			502			Potential.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1506G>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094051	0.36952	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.27	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	M	0.84773	2.715	0.40277	D	0.978355	D;D	0.76494	0.999;0.998	D;D	0.74674	0.96;0.984	T	0.56673	-0.7940	10	0.62326	D	0.03	.	8.869	0.35305	0.333:0.0:0.667:0.0	.	502;502	O60879;O60879-2	DIAP2_HUMAN;.	N	502;498;502;502;502;509	ENSP00000362152:K502N;ENSP00000362145:K498N;ENSP00000348082:K502N;ENSP00000362140:K502N;ENSP00000321348:K502N	ENSP00000321348:K502N	K	+	3	2	DIAPH2	96087243	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	0.968000	0.29357	0.524000	0.28502	0.600000	0.82982	AAG		0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		22	21	0	0	0	0.010504	0	22	21				
NXF3	56000	broad.mit.edu	37	X	102334690	102334690	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:102334690C>T	ENST00000395065.3	-	13	1262		c.e13+1		NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTGATACTCACGGGGCTGAGT	0.577																																							uc004eju.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.e13+1		nuclear RNA export factor 3							93.0	86.0	88.0					X																	102334690		2203	4300	6503	SO:0001630	splice_region_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334690C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1160+1G>A	X.37:g.102334690C>T						NXF3_uc010noi.1_Splice_Site_p.P237_splice	p.P387_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			13	1231	-								B4DYS7|Q5H9I1|Q9H1A9	Splice_Site	SNP	ENST00000395065.3	37	c.1160_splice	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972167	0.34754	.	.	ENSG00000147206	ENST00000395065;ENST00000425644;ENST00000427570	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5875	0.39526	0.2094:0.7906:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF3	102221346	0.979000	0.34478	0.789000	0.31954	0.058000	0.15608	2.511000	0.45476	2.149000	0.67028	0.600000	0.82982	.		0.577	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	Intron	23	35	0	0	0	0.003954	0	23	35				
GLRA4	441509	broad.mit.edu	37	X	102962361	102962361	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:102962361G>T	ENST00000372617.4	-	9	1585	c.1165C>A	c.(1165-1167)Cca>Aca	p.P389T		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	389						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.P389T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTTCCATTGGACCTCCATCT	0.498																																							uc011mse.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)CCA>ACA		glycine receptor, alpha 4 precursor							100.0	94.0	96.0					X																	102962361		1920	4101	6021	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102962361G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1165C>A	X.37:g.102962361G>T	ENSP00000361700:p.Pro389Thr						p.P389T	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			9	1586	-			389			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.1165C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	g	11.35	1.613342	0.28712	.	.	ENSG00000188828	ENST00000372617	T	0.77750	-1.12	5.09	4.22	0.49857	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.561188	0.19293	N	0.117846	T	0.57607	0.2065	N	0.08118	0	0.25558	N	0.98701	B	0.02656	0.0	B	0.01281	0.0	T	0.42666	-0.9438	10	0.22706	T	0.39	.	11.5309	0.50610	0.0:0.0:0.8201:0.1799	.	389	Q5JXX5	GLRA4_HUMAN	T	389	ENSP00000361700:P389T	ENSP00000361700:P389T	P	-	1	0	GLRA4	102849017	0.548000	0.26473	0.985000	0.45067	0.985000	0.73830	1.617000	0.36943	1.107000	0.41642	0.544000	0.68410	CCA		0.498	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		9	31	1	0	0.000442599	0.006214	0.000483037	9	31				
TEX13B	56156	broad.mit.edu	37	X	107225239	107225239	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:107225239G>A	ENST00000302917.1	-	2	211	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	40								p.S40F(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCAGGATAAGGATATATTCTC	0.597																																							uc004enn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)TCC>TTC		testis expressed 13B							104.0	93.0	97.0					X																	107225239		2198	4300	6498	SO:0001583	missense	56156							g.chrX:107225239G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.119C>T	X.37:g.107225239G>A	ENSP00000303777:p.Ser40Phe						p.S40F	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	212	-			40					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.119C>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433577	0.43224	.	.	ENSG00000170925	ENST00000302917	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	T	0.56108	0.1963	L	0.58510	1.815	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.37619	-0.9698	8	0.87932	D	0	.	8.5557	0.33480	0.0:0.0:1.0:0.0	.	40	Q9BXU2	TX13B_HUMAN	F	40	.	ENSP00000303777:S40F	S	-	2	0	TEX13B	107111895	0.014000	0.17966	0.003000	0.11579	0.062000	0.15995	2.262000	0.43285	1.742000	0.51746	0.519000	0.50382	TCC		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			28	43	0	0	0	0.00632	0	28	43				
COL4A6	1288	broad.mit.edu	37	X	107430488	107430488	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:107430488G>T	ENST00000372216.4	-	23	1892	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	COL4A6_ENST00000545689.1_Missense_Mutation_p.P597T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P597T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P597T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P598T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	598	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P597T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCACCTGGGAAGCCCTGT	0.498									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(1792-1794)CCA>ACA		type IV alpha 6 collagen isoform A precursor							90.0	82.0	85.0					X																	107430488		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430488G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1792C>A	X.37:g.107430488G>T	ENSP00000361290:p.Pro598Thr					COL4A6_uc004env.3_Missense_Mutation_p.P597T|COL4A6_uc011msn.1_Missense_Mutation_p.P597T|COL4A6_uc010npk.2_Missense_Mutation_p.P597T	p.P598T	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			23	1895	-			598			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1792C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161366	0.38119	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.1	5.1	0.69264	.	0.174577	0.27932	N	0.017275	D	0.96806	0.8957	M	0.69248	2.105	0.32342	N	0.559696	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.998;0.998;0.999	D	0.96641	0.9474	10	0.42905	T	0.14	.	11.8295	0.52285	0.0843:0.0:0.9157:0.0	.	597;597;598;597	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	T	598;597;598;597;597;597	ENSP00000361290:P598T;ENSP00000334733:P597T;ENSP00000378340:P598T;ENSP00000443707:P597T;ENSP00000445236:P597T	ENSP00000334733:P597T	P	-	1	0	COL4A6	107317144	1.000000	0.71417	0.957000	0.39632	0.804000	0.45430	3.082000	0.50128	2.451000	0.82905	0.529000	0.55759	CCA		0.498	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			38	37	1	0	2.52449e-32	0.006999	3.94508e-32	38	37				
ZCCHC12	170261	broad.mit.edu	37	X	117959580	117959580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:117959580G>T	ENST00000310164.2	+	4	880	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	125					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E125*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tggggagtctgaaagcagtgt	0.517																																							uc004equ.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(373-375)GAA>TAA		zinc finger, CCHC domain containing 12							174.0	169.0	170.0					X																	117959580		2203	4300	6503	SO:0001587	stop_gained	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959580G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.373G>T	X.37:g.117959580G>T	ENSP00000308921:p.Glu125*						p.E125*	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	846	+			125					B3KV48|Q6PID5|Q8N1C1	Nonsense_Mutation	SNP	ENST00000310164.2	37	c.373G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	39	7.490715	0.98316	.	.	ENSG00000174460	ENST00000310164	.	.	.	3.09	3.09	0.35607	.	0.213089	0.23616	N	0.046295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.3985	8.7855	0.34818	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000308921:E125X	E	+	1	0	ZCCHC12	117843608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.765000	0.55272	1.801000	0.52704	0.594000	0.82650	GAA		0.517	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		73	60	1	0	6.01781e-45	0.00361	9.61085e-45	73	60				
NKRF	55922	broad.mit.edu	37	X	118723347	118723347	+	Missense_Mutation	SNP	G	G	T	rs144536074		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:118723347G>T	ENST00000371527.1	-	2	2693	c.2041C>A	c.(2041-2043)Cat>Aat	p.H681N	NKRF_ENST00000542113.1_Missense_Mutation_p.H696N|NKRF_ENST00000304449.5_Missense_Mutation_p.H681N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	681					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H681N(1)|p.H696N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCTCGTAATGGCCCACTTGG	0.403																																							uc004erq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2041-2043)CAT>AAT		transcription factor NRF							106.0	85.0	92.0					X																	118723347		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723347G>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.2041C>A	X.37:g.118723347G>T	ENSP00000360582:p.His681Asn					NKRF_uc004err.2_Missense_Mutation_p.H681N	p.H681N	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	2694	-			681					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.2041C>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754994	0.31046	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.45276	0.9;0.9;0.9	5.83	5.83	0.93111	.	0.171928	0.53938	D	0.000052	T	0.27027	0.0662	N	0.22421	0.69	0.40088	D	0.976214	P	0.48998	0.918	B	0.37451	0.25	T	0.09907	-1.0653	10	0.45353	T	0.12	-23.3401	11.3935	0.49827	0.0837:0.0:0.9163:0.0	.	681	O15226	NKRF_HUMAN	N	681;681;696	ENSP00000360582:H681N;ENSP00000304803:H681N;ENSP00000442308:H696N	ENSP00000304803:H681N	H	-	1	0	NKRF	118607375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.465000	0.73538	2.443000	0.82685	0.594000	0.82650	CAT		0.403	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		4	48	1	0	1.23904e-05	0.000602	1.405e-05	4	48				
STAG2	10735	broad.mit.edu	37	X	123195708	123195708	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:123195708G>A	ENST00000371160.1	+	17	1912	c.1622G>A	c.(1621-1623)aGa>aAa	p.R541K	STAG2_ENST00000371157.3_Missense_Mutation_p.R541K|STAG2_ENST00000371144.3_Missense_Mutation_p.R541K|STAG2_ENST00000371145.3_Missense_Mutation_p.R541K|STAG2_ENST00000354548.5_Missense_Mutation_p.R472K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R541K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	541					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R541K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCCGTGGGAAGAGGGACAGGA	0.363																																							uc004etz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1621-1623)AGA>AAA		stromal antigen 2 isoform b							67.0	64.0	65.0					X																	123195708		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123195708G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1622G>A	X.37:g.123195708G>A	ENSP00000360202:p.Arg541Lys					STAG2_uc004eua.2_Missense_Mutation_p.R541K|STAG2_uc004eub.2_Missense_Mutation_p.R541K|STAG2_uc004euc.2_Missense_Mutation_p.R541K|STAG2_uc004eud.2_Missense_Mutation_p.R541K|STAG2_uc004eue.2_Missense_Mutation_p.R541K	p.R541K	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			16	1961	+			541					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1622G>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166016	0.78339	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.62364	1.6;0.03;1.25;1.23;1.23;1.6;1.23	4.77	4.77	0.60923	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.74546	2.27	0.80722	D	1	B;B	0.33694	0.421;0.132	B;B	0.33392	0.163;0.05	T	0.70022	-0.4986	10	0.59425	D	0.04	-13.4606	17.2439	0.87021	0.0:0.0:1.0:0.0	.	541;541	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	541;541;472;541;541;541;541	ENSP00000218089:R541K;ENSP00000397265:R541K;ENSP00000346555:R472K;ENSP00000360202:R541K;ENSP00000360199:R541K;ENSP00000360187:R541K;ENSP00000360186:R541K	ENSP00000218089:R541K	R	+	2	0	STAG2	123023389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.083000	0.62718	0.600000	0.82982	AGA		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		20	30	0	0	0	0.010504	0	20	30				
ARHGAP36	158763	broad.mit.edu	37	X	130219647	130219647	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:130219647G>C	ENST00000276211.5	+	8	1386	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	ARHGAP36_ENST00000370921.1_Silent_p.L211L|ARHGAP36_ENST00000370922.1_Silent_p.L335L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	347	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)	GTPase activator activity (GO:0005096)	p.L347L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGAGCGTCTGCTGAAGGCCC	0.478																																							uc004evz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1039-1041)CTG>CTC		hypothetical protein LOC158763 precursor							185.0	184.0	184.0					X																	130219647		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130219647G>C		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1041G>C	X.37:g.130219647G>C						ARHGAP36_uc004ewa.2_Silent_p.L335L|ARHGAP36_uc004ewb.2_Silent_p.L316L|ARHGAP36_uc004ewc.2_Silent_p.L211L	p.L347L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			8	1386	+			347			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.1041G>C	CCDS14628.1																																																																																				0.478	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		85	77	0	0	0	0.00361	0	85	77				
MAGEC2	51438	broad.mit.edu	37	X	141290686	141290686	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:141290686C>A	ENST00000247452.3	-	3	1435	c.1088G>T	c.(1087-1089)aGt>aTt	p.S363I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	363	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.S363I(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATGACACTGAGGCTTTC	0.493										HNSCC(46;0.14)																													uc004fbu.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1087-1089)AGT>ATT		melanoma antigen family C, 2							147.0	121.0	130.0					X																	141290686		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290686C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1088G>T	X.37:g.141290686C>A	ENSP00000354660:p.Ser363Ile	HNSCC(46;0.14)					p.S363I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1436	-	Acute lymphoblastic leukemia(192;6.56e-05)		363					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1088G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.904	-0.721172	0.03182	.	.	ENSG00000046774	ENST00000247452	T	0.02446	4.29	1.2	-2.02	0.07388	.	.	.	.	.	T	0.03695	0.0105	M	0.72118	2.19	0.09310	N	1	D	0.54964	0.969	B	0.40659	0.336	T	0.23940	-1.0174	9	0.44086	T	0.13	.	4.8133	0.13354	0.0:0.4112:0.0:0.5888	.	363	Q9UBF1	MAGC2_HUMAN	I	363	ENSP00000354660:S363I	ENSP00000354660:S363I	S	-	2	0	MAGEC2	141118352	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.586000	0.05787	-0.875000	0.04022	-0.386000	0.06593	AGT		0.493	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		31	47	1	0	1.17478e-05	0.003271	1.33561e-05	31	47				
SLITRK2	84631	broad.mit.edu	37	X	144904933	144904934	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:144904933_144904934CC>AA	ENST00000370490.1	+	1	5245_5246	c.990_991CC>AA	c.(988-993)taCCag>taAAag	p.330_331YQ>*K	SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.330_331YQ>*K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	330	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.Y330_Q331>*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGTGTACCAGACCAAGTC	0.53																																							uc004fcd.2		NA																	1	Complex - deletion inframe(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(988-993)TACCAG>TAAAAG		SLIT and NTRK-like family, member 2 precursor																																				SO:0001587	stop_gained	84631					integral to membrane		g.chrX:144904933_144904934CC>AA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	Exception_encountered	X.37:g.144904933_144904934delinsAA	ENSP00000359521:p.Y330_Q331delins*K					SLITRK2_uc010nsp.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc010nso.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mws.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.330_331YQ>*K	p.330_331YQ>*K	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1980_1981	+	Acute lymphoblastic leukemia(192;6.56e-05)		330_331			Extracellular (Potential).|LRRNT.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	DNP	ENST00000370490.1	37	c.990_991CC>AA	CCDS14680.1																																																																																				0.530	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		4	31	0	0	0	0.004672	0	4	31				
AFF2	2334	broad.mit.edu	37	X	147919203	147919203	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:147919203T>A	ENST00000370460.2	+	5	1598	c.1119T>A	c.(1117-1119)acT>acA	p.T373T	AFF2_ENST00000342251.3_Intron|AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000370457.5_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	373					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.T373T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCACTTCCATGCATA	0.403																																							uc004fcp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1117-1119)ACT>ACA		fragile X mental retardation 2							174.0	138.0	150.0					X																	147919203		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147919203T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1119T>A	X.37:g.147919203T>A						AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.T369T|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	p.T373T	NM_002025	NP_002016	P51816	AFF2_HUMAN			5	1598	+	Acute lymphoblastic leukemia(192;6.56e-05)		373					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1119T>A	CCDS14684.1																																																																																				0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		32	73	0	0	0	0.005524	0	32	73				
CD99L2	83692	broad.mit.edu	37	X	149963906	149963906	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:149963906G>C	ENST00000370377.3	-	5	448	c.331C>G	c.(331-333)Cca>Gca	p.P111A	CD99L2_ENST00000466436.1_Missense_Mutation_p.P62A|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	111					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P111A(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTATTTGCTGGAGCTCTGGTG	0.512																																							uc004fel.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(331-333)CCA>GCA		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							201.0	181.0	188.0					X																	149963906		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963906G>C	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.331C>G	X.37:g.149963906G>C	ENSP00000359403:p.Pro111Ala					CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.P62A|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron	p.P111A	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			5	449	-	Acute lymphoblastic leukemia(192;6.56e-05)		111			Extracellular (Potential).		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.331C>G	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457310	0.43634	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000466436;ENST00000418547	T;T;T	0.32753	1.44;1.44;1.44	3.67	3.67	0.42095	.	0.342816	0.26166	N	0.025945	T	0.58192	0.2105	M	0.87180	2.865	0.49299	D	0.999779	P;D	0.76494	0.93;0.999	P;D	0.87578	0.459;0.998	T	0.65063	-0.6259	9	.	.	.	-7.9479	12.2062	0.54353	0.0:0.0:1.0:0.0	.	62;111	Q8TCZ2-2;Q8TCZ2	.;C99L2_HUMAN	A	111;115;62;74	ENSP00000359403:P111A;ENSP00000417697:P62A;ENSP00000391821:P74A	.	P	-	1	0	CD99L2	149714564	1.000000	0.71417	0.016000	0.15963	0.011000	0.07611	4.177000	0.58276	2.096000	0.63516	0.513000	0.50165	CCA		0.512	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		50	91	0	0	0	0.00361	0	50	91				
GPR50	9248	broad.mit.edu	37	X	150345292	150345292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:150345292C>A	ENST00000218316.3	+	1	168	c.99C>A	c.(97-99)tgC>tgA	p.C33*	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	33					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.C33*(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTATGTTCTGCGCGATGGTTA	0.527																																							uc010ntg.1		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(97-99)TGC>TGA		G protein-coupled receptor 50							124.0	121.0	122.0					X																	150345292		1895	4104	5999	SO:0001587	stop_gained	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345292C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.99C>A	X.37:g.150345292C>A	ENSP00000218316:p.Cys33*					uc004fes.1_RNA|GPR50_uc011myc.1_Nonsense_Mutation_p.C33*	p.C33*	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	234	+	Acute lymphoblastic leukemia(192;6.56e-05)		33			Helical; Name=1; (Potential).		Q0VGG3|Q3ZAR0	Nonsense_Mutation	SNP	ENST00000218316.3	37	c.99C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180866	0.57800	.	.	ENSG00000102195	ENST00000218316	.	.	.	4.21	-1.5	0.08691	.	0.573224	0.18264	N	0.146540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1001	8.3357	0.32213	0.0:0.3809:0.0:0.6191	.	.	.	.	X	33	.	ENSP00000218316:C33X	C	+	3	2	GPR50	150095950	0.661000	0.27430	0.226000	0.23910	0.464000	0.32679	0.075000	0.14686	-0.370000	0.08016	0.292000	0.19580	TGC		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		41	90	1	0	1.07121e-22	0.006999	1.5913e-22	41	90				
GPR50	9248	broad.mit.edu	37	X	150349269	150349269	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:150349269A>T	ENST00000218316.3	+	2	1283	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	405	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.K405M(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCACCACAAGTCTGTCTTT	0.602																																							uc010ntg.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1213-1215)AAG>ATG		G protein-coupled receptor 50							111.0	126.0	121.0					X																	150349269		2089	4199	6288	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349269A>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1214A>T	X.37:g.150349269A>T	ENSP00000218316:p.Lys405Met					uc004fes.1_5'Flank	p.K405M	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1349	+	Acute lymphoblastic leukemia(192;6.56e-05)		405			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1214A>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	A	9.486	1.099421	0.20552	.	.	ENSG00000102195	ENST00000218316	T	0.74421	-0.84	3.91	2.74	0.32292	.	0.198360	0.25086	N	0.033257	T	0.62478	0.2431	N	0.24115	0.695	0.09310	N	1	P	0.50617	0.937	P	0.47206	0.541	T	0.55289	-0.8164	10	0.56958	D	0.05	-3.9516	6.8688	0.24108	0.8792:0.0:0.1208:0.0	.	405	Q13585	MTR1L_HUMAN	M	405	ENSP00000218316:K405M	ENSP00000218316:K405M	K	+	2	0	GPR50	150099927	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.629000	0.24538	0.500000	0.27991	0.430000	0.28490	AAG		0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		66	119	0	0	0	0.00361	0	66	119				
MAGEA12	4111	broad.mit.edu	37	X	151900674	151900674	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:151900674A>C	ENST00000357916.4	-	2	282	c.127T>G	c.(127-129)Tct>Gct	p.S43A	MAGEA12_ENST00000393900.3_Missense_Mutation_p.S43A|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S43A|CSAG1_ENST00000370287.3_5'Flank|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000452779.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	43	Poly-Ser.							p.S43A(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGAGTAGAGGAGGAGGAG	0.637																																							uc010ntp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(127-129)TCT>GCT		melanoma antigen family A, 12							54.0	56.0	55.0					X																	151900674		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900674A>C		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.127T>G	X.37:g.151900674A>C	ENSP00000350592:p.Ser43Ala					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.S43A|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.S43A	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	481	-	Acute lymphoblastic leukemia(192;6.56e-05)		43			Poly-Ser.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.127T>G	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.877338	0.33162	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05717	3.4;3.4;3.4	1.14	-0.573	0.11742	Melanoma associated antigen, MAGE, N-terminal (1);	2.006760	0.02551	N	0.095669	T	0.22666	0.0547	M	0.84511	2.7	0.09310	N	1	D	0.64830	0.994	D	0.63703	0.917	T	0.10941	-1.0608	10	0.42905	T	0.14	.	2.8103	0.05440	0.5841:0.0:0.0:0.4159	.	43	P43365	MAGAC_HUMAN	A	43	ENSP00000350592:S43A;ENSP00000377447:S43A;ENSP00000377478:S43A	ENSP00000350592:S43A	S	-	1	0	MAGEA12	151651330	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	-0.366000	0.07563	-0.199000	0.10317	0.150000	0.16122	TCT		0.637	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		14	70	0	0	0	0.003163	0	14	70				
AVPR2	554	broad.mit.edu	37	X	153171805	153171805	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:153171805T>G	ENST00000358927.2	+	3	1054	c.845T>G	c.(844-846)cTg>cGg	p.L282R	AVPR2_ENST00000337474.5_Missense_Mutation_p.L282R|AVPR2_ENST00000370049.1_Missense_Mutation_p.L282R			P30518	V2R_HUMAN	arginine vasopressin receptor 2	282			L -> P (in XNDI).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.L282R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTCTATGTGCTGTGCTGGGCA	0.662																																							uc004fjh.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1	GRCh37	CM001635	AVPR2	M		c.(844-846)CTG>CGG		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						183.0	139.0	154.0					X																	153171805		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171805T>G	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.845T>G	X.37:g.153171805T>G	ENSP00000351805:p.Leu282Arg					AVPR2_uc004fjg.3_Missense_Mutation_p.L71R|AVPR2_uc004fji.2_Missense_Mutation_p.L282R	p.L282R	NM_000054	NP_000045	P30518	V2R_HUMAN			2	916	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		282		L -> P (in XNDI).	Helical; Name=6; (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.845T>G	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	t	17.85	3.491047	0.64074	.	.	ENSG00000126895	ENST00000358927;ENST00000337474;ENST00000370049	T;T;T	0.46451	0.87;0.87;0.87	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.307547	0.30593	N	0.009291	T	0.65657	0.2712	M	0.88310	2.945	0.48087	D	0.99958	D;D	0.57257	0.973;0.979	P;D	0.65573	0.851;0.936	T	0.71928	-0.4444	10	0.72032	D	0.01	.	11.0587	0.47933	0.0:0.0:0.0:1.0	.	282;282	P30518-2;P30518	.;V2R_HUMAN	R	282	ENSP00000351805:L282R;ENSP00000338072:L282R;ENSP00000359066:L282R	ENSP00000338072:L282R	L	+	2	0	AVPR2	152824999	0.001000	0.12720	0.992000	0.48379	0.904000	0.53231	0.988000	0.29616	1.396000	0.46663	0.218000	0.17770	CTG		0.662	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			29	46	0	0	0	0.008361	0	29	46				
DOCK7	85440	broad.mit.edu	37	1	63128718	63128719	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:63128718_63128719insA	ENST00000340370.5	-	2	138_139	c.121_122insT	c.(121-123)ggcfs	p.G41fs	DOCK7_ENST00000251157.5_Frame_Shift_Ins_p.G41fs|DOCK7_ENST00000404627.2_Frame_Shift_Ins_p.G41fs	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	41					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGATATATTGCCAACAATATTA	0.391																																							uc001daq.2		NA																	0				ovary(2)	2						c.(121-123)GGCfs		dedicator of cytokinesis 7																																				SO:0001589	frameshift_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63128718_63128719insA		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.121_122insT	1.37:g.63128718_63128719insA	ENSP00000340742:p.Gly41fs					DOCK7_uc001dap.2_Frame_Shift_Ins_p.G41fs|DOCK7_uc009wah.1_Frame_Shift_Ins_p.G41fs	p.G41fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			2	155_156	-			41					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Frame_Shift_Ins	INS	ENST00000340370.5	37	c.121_122insT	CCDS30734.1																																																																																				0.391	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		26	159	NA	NA	NA	NA	NA	26	159	---	---	---	---
GOLPH3L	55204	broad.mit.edu	37	1	150636173	150636173	+	Frame_Shift_Del	DEL	C	C	-	rs372580751	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:150636173delC	ENST00000271732.3	-	3	294	c.250delG	c.(250-252)gccfs	p.A84fs	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	84					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCGCATGGCCAGCTCTATC	0.498																																							uc001evj.2		NA																	0				ovary(1)	1						c.(250-252)GCCfs		Golgi phosphoprotein 3-like							91.0	87.0	88.0					1																	150636173		2203	4300	6503	SO:0001589	frameshift_variant	55204					Golgi cisterna membrane		g.chr1:150636173delC	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.250delG	1.37:g.150636173delC	ENSP00000271732:p.Ala84fs					GOLPH3L_uc010pci.1_Intron	p.A84fs	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	467	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		84					B1AN09|B7Z6N3|Q9NVK0	Frame_Shift_Del	DEL	ENST00000271732.3	37	c.250delG	CCDS966.1																																																																																				0.498	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		75	58	NA	NA	NA	NA	NA	75	58	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433228	55433228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55433228delT	ENST00000314259.3	+	1	615	c.586delT	c.(586-588)ttafs	p.L196fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTGGGCCTCTTAGTTACCCT	0.443																																							uc001nht.3		NA																	0				skin(2)	2						c.(586-588)TTAfs		olfactory receptor, family 4, subfamily C,							137.0	122.0	127.0					11																	55433228		2200	4296	6496	SO:0001589	frameshift_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433228delT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.586delT	11.37:g.55433228delT	ENSP00000324769:p.Leu196fs					OR4C6_uc010rik.1_Frame_Shift_Del_p.L196fs	p.L196fs	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	851	+			196			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Frame_Shift_Del	DEL	ENST00000314259.3	37	c.586delT	CCDS31506.1																																																																																				0.443	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		34	104	NA	NA	NA	NA	NA	34	104	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189574	124189574	+	Frame_Shift_Del	DEL	C	C	-	rs575308677	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:124189574delC	ENST00000357438.2	-	1	610	c.520delG	c.(520-522)gtcfs	p.V174fs		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAATGACTGACCGTATGAGAC	0.438																																							uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(520-522)GTCfs		olfactory receptor, family 8, subfamily D,							108.0	99.0	102.0					11																	124189574		2201	4299	6500	SO:0001589	frameshift_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189574delC	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.520delG	11.37:g.124189574delC	ENSP00000350022:p.Val174fs						p.V174fs	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	520	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	174			Extracellular (Potential).		B9EH49|Q6IFR0	Frame_Shift_Del	DEL	ENST00000357438.2	37	c.520delG	CCDS31707.1																																																																																				0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		21	86	NA	NA	NA	NA	NA	21	86	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48934152	48934152	+	Splice_Site	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:48934152delG	ENST00000267163.4	+	7	745		c.e7-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTTTTTTCAGGGGAAGTATT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		20	Whole gene deletion(15)|Unknown(5)	p.?(3)	bone(11)|breast(4)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|urinary_tract(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS030549	RB1	S		c.e7-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						75.0	76.0	76.0					13																	48934152		2203	4297	6500	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934152delG	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.608-1G>-	13.37:g.48934152delG		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Splice_Site|RB1_uc010act.1_5'Flank	p.G203_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	774	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	DEL	ENST00000267163.4	37	c.608_splice	CCDS31973.1																																																																																				0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	23	25	NA	NA	NA	NA	NA	23	25	---	---	---	---
PRDM7	11105	broad.mit.edu	37	16	90127890	90127890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:90127890delC	ENST00000449207.2	-	8	939	c.920delG	c.(919-921)ggafs	p.G307fs	PRDM7_ENST00000407825.1_Frame_Shift_Del_p.G101fs|PRDM7_ENST00000325921.6_Frame_Shift_Del_p.G101fs	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	307	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTTATCTTTTCCATCCACATA	0.408																																							uc010cje.2		NA																	0				ovary(1)	1						c.(919-921)GGAfs		PR domain containing 7 isoform 1							157.0	140.0	146.0					16																	90127890		2198	4300	6498	SO:0001589	frameshift_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90127890delC	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.920delG	16.37:g.90127890delC	ENSP00000396732:p.Gly307fs					PRDM7_uc002fqo.2_Frame_Shift_Del_p.G101fs|PRDM7_uc010cjf.2_Frame_Shift_Del_p.G190fs|PRDM7_uc010cjg.1_Frame_Shift_Del_p.G101fs|PRDM7_uc010cjh.1_RNA	p.G307fs	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	8	940	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	307			SET.		A4Q9G8|Q08EM4|Q9NQW4	Frame_Shift_Del	DEL	ENST00000449207.2	37	c.920delG	CCDS45557.1																																																																																				0.408	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			54	125	NA	NA	NA	NA	NA	54	125	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-	rs56275308		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:7579471delG	ENST00000269305.4	-	4	405	c.216delC	c.(214-216)cccfs	p.P72fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000574684.1_5'Flank	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	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16131611, ECO:0000269|PubMed:1999338, ECO:0000269|Ref.17}.		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.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	CAGGGGCCACGGGGGGAGCAG	0.602		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	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.V73fs*76(2)|p.R72H(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(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.(214-216)CCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							85.0	93.0	90.0					17																	7579471		2202	4299	6501	SO:0001589	frameshift_variant	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.chr17:7579471delG	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.216delC	17.37:g.7579471delG	ENSP00000269305:p.Pro72fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P72fs|TP53_uc002gih.2_Frame_Shift_Del_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P72fs|TP53_uc010cni.1_Frame_Shift_Del_p.P72fs|TP53_uc002gij.2_Frame_Shift_Del_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P87fs	p.P72fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	410	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	72		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.216delC	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		82	112	NA	NA	NA	NA	NA	82	112	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34901617	34901618	+	Frame_Shift_Ins	INS	-	-	C	rs140693226		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:34901617_34901618insC	ENST00000304718.4	+	2	360_361	c.44_45insC	c.(43-48)ttccccfs	p.FP15fs	GGNBP2_ENST00000485685.2_Frame_Shift_Ins_p.FP15fs|MYO19_ENST00000590081.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	15					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGGAGGAGTTCCCCTTCGAGA	0.713																																							uc002hnb.2		NA																	0				ovary(2)	2						c.(43-45)TTCfs		zinc finger protein 403																																				SO:0001589	frameshift_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34901617_34901618insC	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.48dupC	17.37:g.34901621_34901621dupC	ENSP00000307617:p.Phe15fs					GGNBP2_uc002hna.2_Frame_Shift_Ins_p.F15fs	p.F15fs	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	2	293_294	+		Breast(25;0.00957)|Ovarian(249;0.17)	15					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Ins	INS	ENST00000304718.4	37	c.44_45insC	CCDS11314.1																																																																																				0.713	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		3	3	NA	NA	NA	NA	NA	3	3	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32640490	32640490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:32640490delC	ENST00000421745.2	+	10	2265	c.2131delC	c.(2131-2133)cccfs	p.P711fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	711					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTGTTTCCCAAGCCTGG	0.468																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(2131-2133)CCCfs		baculoviral IAP repeat-containing 6							69.0	66.0	67.0					2																	32640490		2203	4300	6503	SO:0001589	frameshift_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640490delC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2131delC	2.37:g.32640490delC	ENSP00000393596:p.Pro711fs						p.P711fs	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2265	+	Acute lymphoblastic leukemia(172;0.155)		711					Q9ULD1	Frame_Shift_Del	DEL	ENST00000421745.2	37	c.2131delC	CCDS33175.2																																																																																				0.468	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		21	67	NA	NA	NA	NA	NA	21	67	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179318348	179318349	+	Splice_Site	INS	-	-	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179318348_179318349insT	ENST00000409117.3	+	2	567		c.e2+1		PRKRA_ENST00000325748.4_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000432031.2_5'Flank|DFNB59_ENST00000375129.4_Splice_Site|PRKRA_ENST00000438687.3_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59						sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATTTCAGCTGGTAAGTTTAAAT	0.327																																							uc002umi.3		NA																	0					0						c.e2+1		deafness, autosomal recessive 59																																				SO:0001630	splice_region_variant	494513				sensory perception of sound			g.chr2:179318348_179318349insT	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.211+1->T	2.37:g.179318349_179318349dupT						PRKRA_uc002umd.2_5'Flank|PRKRA_uc002ume.2_5'Flank|PRKRA_uc002umf.2_5'Flank|PRKRA_uc002umg.2_5'Flank|DFNB59_uc002umj.3_Splice_Site_p.G71_splice	p.G71_splice	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	567	+								A0PK14|B9EJE2	Splice_Site	INS	ENST00000409117.3	37	c.211_splice	CCDS42787.1																																																																																				0.327	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1		Intron	8	17	NA	NA	NA	NA	NA	8	17	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9368137	9368137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:9368137delA	ENST00000378493.1	+	12	1107	c.1092delA	c.(1090-1092)ggafs	p.G364fs	PLCB4_ENST00000278655.4_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000378501.2_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000378473.3_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	364	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTGGGATGGAAAAGGTGAAG	0.308																																							uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(1090-1092)GGAfs		phospholipase C beta 4 isoform b							142.0	141.0	141.0					20																	9368137		2203	4300	6503	SO:0001589	frameshift_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9368137delA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1092delA	20.37:g.9368137delA	ENSP00000367754:p.Gly364fs					PLCB4_uc010gbw.1_Frame_Shift_Del_p.G364fs|PLCB4_uc010gbx.2_Frame_Shift_Del_p.G364fs|PLCB4_uc002wne.2_Frame_Shift_Del_p.G364fs|PLCB4_uc002wnh.2_Frame_Shift_Del_p.G211fs	p.G364fs	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			14	1228	+			364			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Del	DEL	ENST00000378493.1	37	c.1092delA	CCDS13105.1																																																																																				0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			14	139	NA	NA	NA	NA	NA	14	139	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55033542	55033542	+	Frame_Shift_Del	DEL	G	G	-	rs143052505		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:55033542delG	ENST00000360314.3	+	7	2325	c.2100delG	c.(2098-2100)gcgfs	p.A700fs	CASS4_ENST00000371336.3_Frame_Shift_Del_p.A700fs|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Frame_Shift_Del_p.A263fs	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	700					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						GCCAGCCCGCGGAGATCATCA	0.592																																							uc002xxp.2		NA																	0				ovary(2)|skin(1)	3						c.(2098-2100)GCGfs		HEF-like protein isoform a							74.0	66.0	69.0					20																	55033542		2203	4300	6503	SO:0001589	frameshift_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033542delG	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.2100delG	20.37:g.55033542delG	ENSP00000353462:p.Ala700fs					CASS4_uc002xxr.2_Frame_Shift_Del_p.A700fs|CASS4_uc010zze.1_Frame_Shift_Del_p.A646fs|CASS4_uc010gio.2_Frame_Shift_Del_p.A263fs	p.A700fs	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			7	2325	+			700					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Frame_Shift_Del	DEL	ENST00000360314.3	37	c.2100delG	CCDS33492.1																																																																																				0.592	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		15	119	NA	NA	NA	NA	NA	15	119	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749403	22749404	+	RNA	INS	-	-	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:22749403_22749404insT	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGCTAAACCCATATTCATCGA	0.446																																							uc003gqp.3		NA																	0					0						c.(769-774)CCCATAfs		cytosolic beta-glucosidase isoform a																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749403_22749404insT	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.22749403_22749404insT						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Ins_p.P258fs	p.P257fs	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	862_863	+			257_258					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Frame_Shift_Ins	INS	ENST00000503442.1	37	c.771_772insT																																																																																					0.446	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			20	96	NA	NA	NA	NA	NA	20	96	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62903472	62903472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:62903472delC	ENST00000514591.1	+	23	3740	c.3411delC	c.(3409-3411)tgcfs	p.C1137fs	LPHN3_ENST00000504896.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000512091.2_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.C1196fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1115					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						ATGGGAAATGCCTGCGAACAC	0.423																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3409-3411)TGCfs		latrophilin 3 precursor							140.0	140.0	140.0					4																	62903472		1939	4158	6097	SO:0001589	frameshift_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903472delC	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.3411delC	4.37:g.62903472delC	ENSP00000422533:p.Cys1137fs					LPHN3_uc003hcq.3_Frame_Shift_Del_p.C1137fs|LPHN3_uc003hct.2_Frame_Shift_Del_p.C521fs	p.C1137fs	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			21	3584	+			1115			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Frame_Shift_Del	DEL	ENST00000514591.1	37	c.3411delC	CCDS54768.1																																																																																				0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			28	67	NA	NA	NA	NA	NA	28	67	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166199558	166199558	+	Intron	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:166199558delC	ENST00000226725.6	+	5	803				KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000514860.1_Intron|KLHL2_ENST00000509028.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ATTCCACAGTCTCGATTCATG	0.408																																							uc003ird.3		NA																	0					0						c.(1240-1242)GACfs		glycerol kinase isoform b																																				SO:0001627	intron_variant	2713							g.chr4:166199558delC	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.544+15047C>-	4.37:g.166199558delC						KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	p.D414fs	NM_000167	NP_000158					1	1618	-								A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Frame_Shift_Del	DEL	ENST00000226725.6	37	c.1240delG	CCDS34094.1																																																																																				0.408	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			52	43	NA	NA	NA	NA	NA	52	43	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97854161	97854161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:97854161delG	ENST00000447648.2	-	19	2941	c.2642delC	c.(2641-2643)ccgfs	p.P881fs	TECPR1_ENST00000379795.3_Frame_Shift_Del_p.P883fs|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	881					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGCCCCCCGGAACGCTGAA	0.637																																							uc003upg.2		NA																	0				pancreas(1)	1						c.(2641-2643)CCGfs		tectonin beta-propeller repeat containing 1							20.0	25.0	23.0					7																	97854161		1991	4139	6130	SO:0001589	frameshift_variant	25851					integral to membrane	protein binding	g.chr7:97854161delG		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2642delC	7.37:g.97854161delG	ENSP00000404923:p.Pro881fs						p.P881fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			19	2847	-			881					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2642delC	CCDS47648.1																																																																																				0.637	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		3	4	NA	NA	NA	NA	NA	3	4	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105111238	105111239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:105111238_105111239insA	ENST00000356362.2	-	11	1508_1509	c.1294_1295insT	c.(1294-1296)actfs	p.T432fs	PUS7_ENST00000469408.1_Frame_Shift_Ins_p.T432fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	432	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.T432I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAGGGCAGCAGTTGGGTCTTTG	0.455																																					Colon(138;2387 3051 17860)	Colon(138;2387 3051 17860)	uc003vcx.2		NA																	1	Substitution - Missense(1)		kidney(1)	breast(1)	1						c.(1294-1296)ACTfs		pseudouridylate synthase 7 homolog																																				SO:0001589	frameshift_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105111238_105111239insA	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1294_1295insT	7.37:g.105111238_105111239insA	ENSP00000348722:p.Thr432fs					PUS7_uc010lji.2_Frame_Shift_Ins_p.T438fs|PUS7_uc003vcy.2_Frame_Shift_Ins_p.T432fs|PUS7_uc003vcz.1_Frame_Shift_Ins_p.T432fs	p.T432fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			11	1513_1514	-			432			TRUD.		Q75MG4|Q9NX19	Frame_Shift_Ins	INS	ENST00000356362.2	37	c.1294_1295insT	CCDS34725.1																																																																																				0.455	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		39	147	NA	NA	NA	NA	NA	39	147	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107335136	107335137	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:107335136_107335137delTG	ENST00000265715.3	+	12	1636_1637	c.1412_1413delTG	c.(1411-1413)ctgfs	p.L471fs	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Frame_Shift_Del_p.L32fs|SLC26A4_ENST00000543100.1_Frame_Shift_Del_p.L40fs|SLC26A4_ENST00000544569.1_Frame_Shift_Del_p.L58fs	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	471					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATTCCTCGTCTGTGGAGACAGA	0.421									Pendred syndrome																														uc003vep.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1411-1413)CTGfs		pendrin																																				SO:0001589	frameshift_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107335136_107335137delTG	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1412_1413delTG	7.37:g.107335138_107335139delTG	ENSP00000265715:p.Leu471fs					SLC26A4_uc011kmb.1_Frame_Shift_Del_p.L58fs|SLC26A4_uc011kmc.1_Frame_Shift_Del_p.L32fs|SLC26A4_uc011kmd.1_Frame_Shift_Del_p.L40fs	p.L471fs	NM_000441	NP_000432	O43511	S26A4_HUMAN			12	1636_1637	+			471			Extracellular (Potential).		B7Z266|O43170	Frame_Shift_Del	DEL	ENST00000265715.3	37	c.1412_1413delTG	CCDS5746.1																																																																																				0.421	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		36	60	NA	NA	NA	NA	NA	36	60	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18906824	18906824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:18906824delC	ENST00000380548.4	+	28	5435	c.5096delC	c.(5095-5097)accfs	p.T1699fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.T400fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1699	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CATGCCCGCACCAACAAGGCA	0.612																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(5095-5097)ACCfs		ADAMTS-like 1 isoform 4 precursor							67.0	80.0	75.0					9																	18906824		2113	4212	6325	SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906824delC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5096delC	9.37:g.18906824delC	ENSP00000369921:p.Thr1699fs					ADAMTSL1_uc003znf.3_Frame_Shift_Del_p.T400fs|ADAMTSL1_uc003zng.1_Frame_Shift_Del_p.T90fs	p.T1699fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5223	+			1699			TSP type-1 9.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	ENST00000380548.4	37	c.5096delC	CCDS47954.1																																																																																				0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			26	46	NA	NA	NA	NA	NA	26	46	---	---	---	---
OR1L1	26737	broad.mit.edu	37	9	125424827	125424827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:125424827delC	ENST00000373686.1	+	1	983	c.983delC	c.(982-984)accfs	p.T328fs	OR1L1_ENST00000309623.1_Frame_Shift_Del_p.T278fs			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	328						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						ATTATCTACACCGTACTGACT	0.403																																							uc011lza.1		NA																	0				skin(3)|ovary(1)	4						c.(982-984)ACCfs		olfactory receptor, family 1, subfamily L,							136.0	130.0	132.0					9																	125424827		2203	4300	6503	SO:0001589	frameshift_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424827delC		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.983delC	9.37:g.125424827delC	ENSP00000362790:p.Thr328fs						p.T328fs	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	983	+			328			Helical; Name=7; (Potential).		Q5T7Z3|Q6IFN2	Frame_Shift_Del	DEL	ENST00000373686.1	37	c.983delC																																																																																					0.403	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				36	57	NA	NA	NA	NA	NA	36	57	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78426763	78426763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:78426763delG	ENST00000276077.1	+	1	295	c.259delG	c.(259-261)gggfs	p.G87fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCCATTTGGGCCTGGTCT	0.418										HNSCC(63;0.18)																													uc004edg.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(259-261)GGGfs		putative purinergic receptor FKSG79							129.0	103.0	112.0					X																	78426763		2203	4300	6503	SO:0001589	frameshift_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426763delG	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.259delG	X.37:g.78426763delG	ENSP00000276077:p.Gly87fs	HNSCC(63;0.18)					p.G87fs	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	295	+			87			Extracellular (Potential).		Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	37	c.259delG	CCDS14443.1																																																																																				0.418	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		19	10	NA	NA	NA	NA	NA	19	10	---	---	---	---
