#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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
MTOR	2475	broad.mit.edu	37	1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:11190804C>T	ENST00000361445.4	-	39	5471	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_ENST00000376838.1_Missense_Mutation_p.E4K|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1799	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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.E1799K(4)		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)	AGCACAGCTTCGAAGTTCATC	0.582																																						uc001asd.3																			4	Substitution - Missense(4)	p.E1799K(8)	endometrium(2)|large_intestine(1)|prostate(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						c.(5395-5397)Gaa>Aaa		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							121.0	74.0	90.0					1																	11190804		2200	4300	6500	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.chr1:11190804C>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.5395G>A	1.37:g.11190804C>T	ENSP00000354558:p.Glu1799Lys					MTOR_uc001asc.3_Missense_Mutation_p.E4K	p.E1799K	NM_004958	NP_004949	P42345	MTOR_HUMAN			38	5516	-			1799			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5395G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414915	0.83449	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.71934	-0.61;-0.61	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.052549	0.85682	D	0.000000	T	0.71273	0.3320	L	0.49126	1.545	0.80722	D	1	P	0.46457	0.878	P	0.44897	0.463	T	0.71540	-0.4562	10	0.41790	T	0.15	-10.2886	19.5023	0.95100	0.0:1.0:0.0:0.0	.	1799	P42345	MTOR_HUMAN	K	1799;4	ENSP00000354558:E1799K;ENSP00000366034:E4K	ENSP00000354558:E1799K	E	-	1	0	MTOR	11113391	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.447000	0.80620	2.605000	0.88082	0.591000	0.81541	GAA		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
PRAMEF12	390999	broad.mit.edu	37	1	12837525	12837525	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:12837525C>T	ENST00000357726.4	+	3	1262	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	412					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGTATCCTGCCCCTCTG	0.577																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1234-1236)cCt>cTt		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							111.0	120.0	117.0					1																	12837525		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837525C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1235C>T	1.37:g.12837525C>T	ENSP00000350358:p.Pro412Leu						p.P412L	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1262	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	412						Missense_Mutation	SNP	ENST00000357726.4	37	c.1235C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.77	2.633362	0.47049	.	.	ENSG00000116726	ENST00000357726	T	0.21191	2.02	2.72	1.77	0.24775	.	0.205916	0.41194	D	0.000922	T	0.43545	0.1252	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16041	-1.0416	10	0.87932	D	0	.	9.0335	0.36273	0.2207:0.7793:0.0:0.0	.	412	O95522	PRA12_HUMAN	L	412	ENSP00000350358:P412L	ENSP00000350358:P412L	P	+	2	0	PRAMEF12	12760112	0.003000	0.15002	0.001000	0.08648	0.187000	0.23431	1.069000	0.30641	0.663000	0.31027	0.195000	0.17529	CCT		0.577	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
DDI2	84301	broad.mit.edu	37	1	15978327	15978327	+	Silent	SNP	C	C	A	rs373473419		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:15978327C>A	ENST00000480945.1	+	8	1291	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	374							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGGATGTACGGCCAGAGGA	0.512																																						uc001awx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(1120-1122)Cgg>Agg		Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.							85.0	82.0	83.0					1																	15978327		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15978327C>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1120C>A	1.37:g.15978327C>A						RSC1A1_uc009voj.2_5'UTR	p.R374R	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1333	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	374					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.1120C>A	CCDS30607.1																																																																																				0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341	
C1orf64	149563	broad.mit.edu	37	1	16330879	16330879	+	Splice_Site	SNP	C	C	A	rs143498880	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:16330879C>A	ENST00000329454.2	+	1	149	c.81C>A	c.(79-81)tcC>tcA	p.S27S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	27										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCTCCGGTAAGAGGC	0.647																																						uc001axn.3																			0				breast(2)|endometrium(1)|lung(3)	6						c.e1+1		Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.							31.0	31.0	31.0					1																	16330879		2198	4294	6492	SO:0001630	splice_region_variant	149563							g.chr1:16330879C>A	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.82+1C>A	1.37:g.16330879C>A							p.G28_splice	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	1	150	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	28					B3KXI9	Silent	SNP	ENST00000329454.2	37	c.82_splice	CCDS166.1																																																																																				0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840	Silent
CDA	978	broad.mit.edu	37	1	20945033	20945033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:20945033G>A	ENST00000375071.3	+	4	595	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	138					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TCCTCCTTTGGGCCTGAGGAC	0.557																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(412-414)gGg>gAg		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						80.0	68.0	72.0					1																	20945033		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20945033G>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.413G>A	1.37:g.20945033G>A	ENSP00000364212:p.Gly138Glu					CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.G138E	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	592	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	138						Missense_Mutation	SNP	ENST00000375071.3	37	c.413G>A	CCDS210.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963034	0.53507	.	.	ENSG00000158825	ENST00000375071	T	0.49432	0.78	5.83	5.83	0.93111	Cytidine deaminase-like (1);	0.106321	0.64402	D	0.000004	T	0.70141	0.3190	M	0.81614	2.55	0.52501	D	0.999954	D	0.76494	0.999	D	0.77557	0.99	T	0.71543	-0.4561	10	0.52906	T	0.07	.	15.6056	0.76668	0.0:0.0:1.0:0.0	.	138	P32320	CDD_HUMAN	E	138	ENSP00000364212:G138E	ENSP00000364212:G138E	G	+	2	0	CDA	20817620	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.586000	0.74067	2.761000	0.94854	0.491000	0.48974	GGG		0.557	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	
HSPG2	3339	broad.mit.edu	37	1	22163397	22163397	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:22163397T>A	ENST00000374695.3	-	75	10332	c.10253A>T	c.(10252-10254)gAg>gTg	p.E3418V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3418	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACAGTGGAACTCAACGCTGGC	0.662																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10255-10257)gAg>gTg		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						55.0	45.0	48.0					1																	22163397		2191	4292	6483	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163397T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10253A>T	1.37:g.22163397T>A	ENSP00000363827:p.Glu3418Val					HSPG2_uc001bfj.3_Missense_Mutation_p.E3418V	p.E3419V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	74	10296	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3418			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10256A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230684	0.79688	.	.	ENSG00000142798	ENST00000374695	T	0.26373	1.74	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001120	T	0.40862	0.1134	L	0.43598	1.365	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.11494	-1.0585	10	0.36615	T	0.2	.	12.7864	0.57507	0.0:0.0:0.0:1.0	.	1358;3418	Q59EG0;P98160	.;PGBM_HUMAN	V	3418	ENSP00000363827:E3418V	ENSP00000363827:E3418V	E	-	2	0	HSPG2	22035984	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.023000	0.64084	1.891000	0.54761	0.533000	0.62120	GAG		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
ARID1A	8289	broad.mit.edu	37	1	27099916	27099916	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:27099916C>T	ENST00000324856.7	+	15	4166	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Silent_p.G882G|ARID1A_ENST00000457599.2_Silent_p.G1265G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1265					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGCTGCCGGCCCTGGGCTAG	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3793-3795)ggC>ggT		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.							68.0	63.0	65.0					1																	27099916		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099916C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3795C>T	1.37:g.27099916C>T						ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.G1265G	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4168	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1265					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3795C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	4.592	0.110056	0.08780	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56019	-0.8048	4	.	.	.	-2.6541	8.5269	0.33311	0.0:0.7919:0.0:0.2081	.	.	.	.	S	162	.	.	P	+	1	0	ARID1A	26972503	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.806000	0.47947	2.627000	0.88993	0.655000	0.94253	CCC		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
CYP4X1	260293	broad.mit.edu	37	1	47498946	47498946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:47498946G>A	ENST00000371901.3	+	4	648	c.398G>A	c.(397-399)tGg>tAg	p.W133*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.W132*	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	133						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGACCCAAGTGGTTCCAGCAT	0.423																																						uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(397-399)tGg>tAg		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.							109.0	95.0	100.0					1																	47498946		2203	4300	6503	SO:0001587	stop_gained	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47498946G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.398G>A	1.37:g.47498946G>A	ENSP00000360968:p.Trp133*					CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W68*	p.W133*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			3	648	+			133					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Nonsense_Mutation	SNP	ENST00000371901.3	37	c.398G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	39	7.503375	0.98325	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8981	0.96973	0.0:0.0:1.0:0.0	.	.	.	.	X	132;133	.	ENSP00000360968:W133X	W	+	2	0	CYP4X1	47271533	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.017000	0.93651	2.804000	0.96469	0.591000	0.81541	TGG		0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
SYDE2	84144	broad.mit.edu	37	1	85624724	85624724	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:85624724G>C	ENST00000341460.5	-	7	3343	c.3294C>G	c.(3292-3294)aaC>aaG	p.N1098K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1098					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTAAAAAGTAGTTTTCCCCAC	0.388																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(3292-3294)aaC>aaG		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.							91.0	90.0	90.0					1																	85624724		1844	4094	5938	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624724G>C	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3294C>G	1.37:g.85624724G>C	ENSP00000340594:p.Asn1098Lys						p.N1098K	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	6	3343	-			1098					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.3294C>G	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870937	0.51695	.	.	ENSG00000097096	ENST00000341460	T	0.41400	1.0	6.17	6.17	0.99709	.	0.273768	0.46442	D	0.000298	T	0.29491	0.0735	L	0.51422	1.61	0.37417	D	0.913477	B	0.25850	0.136	B	0.23275	0.045	T	0.10428	-1.0630	10	0.72032	D	0.01	.	17.766	0.88477	0.0:0.1218:0.8782:0.0	.	1098	Q5VT97	SYDE2_HUMAN	K	1098	ENSP00000340594:N1098K	ENSP00000340594:N1098K	N	-	3	2	SYDE2	85397312	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	1.649000	0.37281	2.941000	0.99782	0.655000	0.94253	AAC		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
COL24A1	255631	broad.mit.edu	37	1	86377068	86377068	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:86377068C>T	ENST00000370571.2	-	25	2977	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E871K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	871	Collagen-like 6.				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)			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)		ATTACCTTTTCGCCAATGCTT	0.308																																						uc001dlj.3																			0				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						c.(2611-2613)Gaa>Aaa		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							65.0	65.0	65.0					1																	86377068		1809	4061	5870	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86377068C>T	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.2611G>A	1.37:g.86377068C>T	ENSP00000359603:p.Glu871Lys					COL24A1_uc001dli.3_Missense_Mutation_p.E7K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E171K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.E871K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	24	2686	-			871			Collagen-like 6.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2611G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088837	0.36855	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93247	-3.19;-3.19	4.49	4.49	0.54785	.	0.000000	0.34932	N	0.003577	D	0.92861	0.7729	L	0.50993	1.605	0.49299	D	0.99977	D;D	0.76494	0.998;0.999	D;D	0.76071	0.96;0.987	D	0.90352	0.4367	10	0.17369	T	0.5	.	12.5763	0.56365	0.0:1.0:0.0:0.0	.	871;871	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	K	871	ENSP00000359603:E871K;ENSP00000392531:E871K	ENSP00000359603:E871K	E	-	1	0	COL24A1	86149656	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	3.949000	0.56668	2.317000	0.78254	0.563000	0.77884	GAA		0.308	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
NOTCH2	4853	broad.mit.edu	37	1	120510201	120510201	+	Silent	SNP	C	C	A	rs587728761		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:120510201C>A	ENST00000256646.2	-	8	1527	c.1308G>T	c.(1306-1308)acG>acT	p.T436T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	436	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.T436T(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCGCCATCCGTGTTCACAC	0.473			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		1	Substitution - coding silent(1)	p.T436T(2)	lung(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1306-1308)acG>acT		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							159.0	126.0	137.0					1																	120510201		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510201C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1308G>T	1.37:g.120510201C>A						NOTCH2_uc001eil.3_Silent_p.T436T|NOTCH2_uc021osy.1_Silent_p.T397T|NOTCH2_uc001eim.4_Silent_p.T353T	p.T436T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1605	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	436			EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.1308G>T	CCDS908.1																																																																																				0.473	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
TCHH	7062	broad.mit.edu	37	1	152080460	152080460	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:152080460G>A	ENST00000368804.1	-	2	5232	c.5233C>T	c.(5233-5235)Cgc>Tgc	p.R1745C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1745	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCGTTCTTGGCGG	0.587																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5233-5235)Cgc>Tgc		Homo sapiens trichohyalin (TCHH), mRNA.							40.0	42.0	41.0					1																	152080460		1905	4120	6025	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080460G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5233C>T	1.37:g.152080460G>A	ENSP00000357794:p.Arg1745Cys					TCHH_uc001ezp.2_Missense_Mutation_p.R1745C	p.R1745C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5505	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1745			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5233C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983583	0.18889	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	3.68	-0.863	0.10669	.	.	.	.	.	T	0.05090	0.0136	L	0.52126	1.63	0.09310	N	1	D	0.76494	0.999	P	0.56563	0.801	T	0.25641	-1.0126	9	0.56958	D	0.05	1.5658	8.1036	0.30872	0.0:0.4576:0.3811:0.1613	.	1745	Q07283	TRHY_HUMAN	C	1745	ENSP00000357794:R1745C	ENSP00000357794:R1745C	R	-	1	0	TCHH	150347084	0.000000	0.05858	0.002000	0.10522	0.220000	0.24768	0.095000	0.15127	-0.272000	0.09259	0.467000	0.42956	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
SHCBP1L	81626	broad.mit.edu	37	1	182922239	182922239	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:182922239G>A	ENST00000367547.3	-	1	266	c.30C>T	c.(28-30)ccC>ccT	p.P10P	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	82										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATGAGTCCGCGGGCACCGAGG	0.716																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(28-30)ccC>ccT		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							4.0	5.0	4.0					1																	182922239		1801	3815	5616	SO:0001819	synonymous_variant	81626							g.chr1:182922239G>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.30C>T	1.37:g.182922239G>A						SHCBP1L_uc001gpv.3_5'UTR|SHCBP1L_uc010pnz.2_5'UTR|SHCBP1L_uc001gpw.3_5'UTR	p.P10P	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			0	315	-			82					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.30C>T	CCDS30955.1																																																																																				0.716	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
PPP1R12B	4660	broad.mit.edu	37	1	202418229	202418229	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:202418229G>A	ENST00000608999.1	+	13	1933	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.G594R	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	594					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CACTGCCAATGGGGTTACAGC	0.507																																						uc001gya.2																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1780-1782)Ggg>Agg		Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.							106.0	87.0	93.0					1																	202418229		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202418229G>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1780G>A	1.37:g.202418229G>A	ENSP00000476755:p.Gly594Arg						p.G594R	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1930	+			594					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1780G>A	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586817	0.86851	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.40476	1.03;1.04	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000010	T	0.53417	0.1795	M	0.72479	2.2	0.80722	D	1	D;P	0.57571	0.98;0.903	P;P	0.52957	0.714;0.484	T	0.47484	-0.9114	10	0.11182	T	0.66	.	17.9463	0.89039	0.0:0.0:1.0:0.0	.	594;594	O60237;F8W8M3	MYPT2_HUMAN;.	R	594	ENSP00000384496:G594R;ENSP00000337897:G594R	ENSP00000337897:G594R	G	+	1	0	PPP1R12B	200684852	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.389000	0.59639	2.745000	0.94114	0.655000	0.94253	GGG		0.507	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
OR2B11	127623	broad.mit.edu	37	1	247614696	247614696	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:247614696C>T	ENST00000318749.6	-	1	612	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			TCATTCACAGCGGTGTCAGCA	0.577																																						uc010pyx.2																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(589-591)Gct>Act		Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.							60.0	62.0	61.0					1																	247614696		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614696C>T		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.589G>A	1.37:g.247614696C>T	ENSP00000325682:p.Ala197Thr						p.A197T	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	589	-	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)	197					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.589G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.264324	0.00262	.	.	ENSG00000177535	ENST00000318749	T	0.00099	8.73	4.96	-0.717	0.11208	GPCR, rhodopsin-like superfamily (1);	1.779580	0.02977	N	0.145206	T	0.00073	0.0002	N	0.01761	-0.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23655	-1.0182	10	0.02654	T	1	.	7.9999	0.30291	0.0:0.4251:0.0:0.5749	.	197	Q5JQS5	OR2BB_HUMAN	T	197	ENSP00000325682:A197T	ENSP00000325682:A197T	A	-	1	0	OR2B11	245681319	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-7.651000	0.00032	-0.076000	0.12775	-0.262000	0.10625	GCT		0.577	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
ITGB1	3688	broad.mit.edu	37	10	33211272	33211272	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:33211272C>A	ENST00000396033.2	-	9	1176	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ITGB1_ENST00000423113.1_Missense_Mutation_p.E347D|ITGB1_ENST00000302278.3_Missense_Mutation_p.E347D|ITGB1_ENST00000374956.4_Missense_Mutation_p.E347D	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	347	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AGTTTTTCAGCTCCTGCAATT	0.348																																						uc001iws.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1039-1041)gaG>gaT		Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.							145.0	135.0	138.0					10																	33211272		2203	4299	6502	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211272C>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1041G>T	10.37:g.33211272C>A	ENSP00000379350:p.Glu347Asp					ITGB1_uc001iwr.4_Missense_Mutation_p.E347D|ITGB1_uc001iwt.4_Missense_Mutation_p.E347D	p.E347D	NM_133376	NP_596867	P05556	ITB1_HUMAN			8	1177	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	347			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1041G>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613966	0.66672	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.84	-0.55	0.11825	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	L	0.56340	1.77	0.54753	D	0.999987	D;D;D;B;D	0.89917	0.999;1.0;0.994;0.068;0.997	D;D;D;B;P	0.91635	0.996;0.999;0.925;0.048;0.904	D	0.95788	0.8822	10	0.49607	T	0.09	.	11.9349	0.52868	0.0:0.4648:0.0:0.5352	.	347;347;347;347;347	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	D	347	ENSP00000379350:E347D;ENSP00000388694:E347D;ENSP00000303351:E347D;ENSP00000364094:E347D	ENSP00000303351:E347D	E	-	3	2	ITGB1	33251278	0.998000	0.40836	0.995000	0.50966	0.852000	0.48524	0.424000	0.21330	-0.063000	0.13065	-0.238000	0.12139	GAG		0.348	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
ALOX5	240	broad.mit.edu	37	10	45936078	45936078	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:45936078C>A	ENST00000374391.2	+	8	1235	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	ALOX5_ENST00000542434.1_Missense_Mutation_p.F394L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	394	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCCATTTTCAAGGTACAGC	0.582																																						uc001jce.3																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1180-1182)ttC>ttA		Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						77.0	54.0	62.0					10																	45936078		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45936078C>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1182C>A	10.37:g.45936078C>A	ENSP00000363512:p.Phe394Leu					ALOX5_uc009xmt.3_Missense_Mutation_p.F394L|ALOX5_uc010qfg.2_Missense_Mutation_p.F394L|ALOX5_uc021ppr.1_Missense_Mutation_p.F394L	p.F394L	NM_000698	NP_000689	P09917	LOX5_HUMAN			7	1281	+		Lung SC(717;0.0257)	394			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1182C>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281637	0.80692	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.79940	-1.32;-1.32	5.96	3.14	0.36123	Lipoxygenase, C-terminal (4);Lipoxygenase, conserved site (1);	0.148685	0.64402	D	0.000011	T	0.76478	0.3993	L	0.55834	1.745	0.52501	D	0.999953	P;P;P	0.49961	0.882;0.698;0.93	P;B;P	0.46253	0.509;0.338;0.509	T	0.74899	-0.3507	10	0.56958	D	0.05	-40.3076	6.88	0.24168	0.0:0.6659:0.0:0.3341	.	394;394;394	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	394	ENSP00000437634:F394L;ENSP00000363512:F394L	ENSP00000363512:F394L	F	+	3	2	ALOX5	45256084	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.592000	0.23984	0.869000	0.35703	0.650000	0.86243	TTC		0.582	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
CDH23	64072	broad.mit.edu	37	10	73405621	73405621	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:73405621G>C	ENST00000224721.6	+	12	1194	c.1189G>C	c.(1189-1191)Ggg>Cgg	p.G397R	CDH23_ENST00000461841.3_Missense_Mutation_p.G437R|CDH23_ENST00000299366.7_Missense_Mutation_p.G437R|CDH23_ENST00000398809.4_Missense_Mutation_p.G392R|CDH23_ENST00000398842.3_Missense_Mutation_p.G392R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	392	Cadherin 4. {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)			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						GTACTTGGTGGGGAACAACTC	0.572																																						uc001jrx.4																			0				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						c.(1168-1170)Ggg>Cgg		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							74.0	77.0	76.0					10																	73405621		2075	4204	6279	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.chr10:73405621G>C	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.1189G>C	10.37:g.73405621G>C	ENSP00000224721:p.Gly397Arg					CDH23_uc001jrw.4_Missense_Mutation_p.G390R|CDH23_uc001jry.3_Missense_Mutation_p.G390R|CDH23_uc001jrz.3_Missense_Mutation_p.G390R|CDH23_uc021psl.1_Missense_Mutation_p.G392R	p.G390R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			11	1558	+			392			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1168G>C		.	.	.	.	.	.	.	.	.	.	G	24.3	4.519390	0.85495	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.60672	0.67;0.17	4.91	4.91	0.64330	Cadherin (3);Cadherin-like (1);	0.080005	0.48767	D	0.000177	T	0.79423	0.4443	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.83617	0.0137	10	0.87932	D	0	.	18.1099	0.89532	0.0:0.0:1.0:0.0	.	392;395;392;392	Q6P152;G3XCN8;Q9H251;Q9H251-5	.;.;CAD23_HUMAN;.	R	397;392;392;392;392;395;395;307	ENSP00000381789:G392R;ENSP00000381822:G392R	ENSP00000224721:G397R	G	+	1	0	CDH23	73075627	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.280000	0.76307	0.561000	0.74099	GGG		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
SYNPO2L	79933	broad.mit.edu	37	10	75407262	75407262	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:75407262A>G	ENST00000394810.2	-	4	2297	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	SYNPO2L_ENST00000372873.4_Silent_p.P492P	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	716	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TAGGAGTCATAGGGGGCGGGG	0.617																																						uc001jut.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2146-2148)ccT>ccC		Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.							47.0	58.0	54.0					10																	75407262		2200	4298	6498	SO:0001819	synonymous_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407262A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2148T>C	10.37:g.75407262A>G						SYNPO2L_uc001jus.4_Silent_p.P492P	p.P716P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			3	2300	-	Prostate(51;0.0112)		716			Pro-rich.		A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	c.2148T>C	CCDS44438.1																																																																																				0.617	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
ZMIZ1	57178	broad.mit.edu	37	10	81061939	81061939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:81061939C>T	ENST00000334512.5	+	18	2667	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	699					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGAAGCGCCTCCTGCCCGC	0.627																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2095-2097)Ctc>Ttc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							97.0	91.0	93.0					10																	81061939		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81061939C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2095C>T	10.37:g.81061939C>T	ENSP00000334474:p.Leu699Phe					ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	p.L699F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2667	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		699					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2095C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554046	0.96501	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.37752	1.18	5.51	5.51	0.81932	.	0.000000	0.37012	N	0.002294	T	0.65995	0.2745	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70256	-0.4922	10	0.72032	D	0.01	-23.433	19.427	0.94746	0.0:1.0:0.0:0.0	.	699	Q9ULJ6	ZMIZ1_HUMAN	F	699;629;604	ENSP00000334474:L699F	ENSP00000334474:L699F	L	+	1	0	ZMIZ1	80731945	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.439000	0.80444	2.577000	0.86979	0.561000	0.74099	CTC		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
RPP30	10556	broad.mit.edu	37	10	92660375	92660375	+	Missense_Mutation	SNP	G	G	A	rs185152546		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:92660375G>A	ENST00000371703.3	+	11	1017	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RPP30_ENST00000413330.1_Missense_Mutation_p.R249Q|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	249					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AAGAAACCTCGGCCATCAGAA	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17487	0.0		0.0	False		,,,				2504	0.0					uc001khd.2																			0		p.R249R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(745-747)cGg>cAg		Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	172.0	182.0	179.0		746,746	3.2	0.8	10		179	0,8600		0,0,4300	no	missense,missense	RPP30	NM_001104546.1,NM_006413.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	249/323,249/269	92660375	1,13005	2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92660375G>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.746G>A	10.37:g.92660375G>A	ENSP00000360768:p.Arg249Gln					RPP30_uc009xtx.3_Missense_Mutation_p.R249Q	p.R249Q	NM_001104546	NP_001098016	P78346	RPP30_HUMAN			10	1016	+			249					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.746G>A	CCDS7411.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.16	1.855569	0.32791	2.27E-4	0.0	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000414836	T;T	0.42513	0.98;0.97	6.07	3.24	0.37175	.	0.536065	0.20251	N	0.096061	T	0.24005	0.0581	N	0.25144	0.715	0.18873	N	0.999987	B;B	0.22480	0.015;0.07	B;B	0.08055	0.001;0.003	T	0.17077	-1.0381	10	0.11485	T	0.65	-12.079	9.4223	0.38559	0.2283:0.0:0.7717:0.0	.	249;249	P78346;E9PB02	RPP30_HUMAN;.	Q	249;249;239;193	ENSP00000360768:R249Q;ENSP00000389182:R249Q	ENSP00000360768:R249Q	R	+	2	0	RPP30	92650355	0.950000	0.32346	0.828000	0.32881	0.575000	0.36095	2.104000	0.41815	0.910000	0.36722	0.585000	0.79938	CGG		0.423	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	
PDLIM1	9124	broad.mit.edu	37	10	96998437	96998437	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:96998437G>C	ENST00000329399.6	-	6	799	c.691C>G	c.(691-693)Ccc>Gcc	p.P231A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	231					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGCTTGTTGGGATCCCCTGAA	0.443																																						uc001kkh.3																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10						c.(691-693)Ccc>Gcc		Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.							80.0	72.0	75.0					10																	96998437		2203	4300	6503	SO:0001583	missense	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:96998437G>C	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.691C>G	10.37:g.96998437G>C	ENSP00000360305:p.Pro231Ala						p.P231A	NM_020992	NP_066272	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	5	800	-		Colorectal(252;0.083)	231					B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	c.691C>G	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	G	9.488	1.099805	0.20552	.	.	ENSG00000107438	ENST00000329399	T	0.22743	1.94	5.23	4.33	0.51752	.	0.292600	0.40908	D	0.000996	T	0.20170	0.0485	L	0.57536	1.79	0.41576	D	0.988713	B	0.31968	0.349	B	0.30646	0.118	T	0.03651	-1.1016	10	0.22109	T	0.4	-7.9005	11.0167	0.47693	0.0863:0.0:0.9137:0.0	.	231	O00151	PDLI1_HUMAN	A	231	ENSP00000360305:P231A	ENSP00000360305:P231A	P	-	1	0	PDLIM1	96988427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.334000	0.43920	1.207000	0.43291	0.555000	0.69702	CCC		0.443	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1		
DMBT1	1755	broad.mit.edu	37	10	124358594	124358594	+	Silent	SNP	C	C	T	rs377379898	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124358594C>T	ENST00000338354.3	+	26	3367	c.3261C>T	c.(3259-3261)gaC>gaT	p.D1087D	DMBT1_ENST00000368955.3_Silent_p.D1077D|DMBT1_ENST00000368909.3_Silent_p.D1087D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.D588D|DMBT1_ENST00000344338.3_Silent_p.D1077D|DMBT1_ENST00000330163.4_Silent_p.D588D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1087	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D1087D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532													c|||	2	0.000399361	0.0015	0.0	5008	,	,		19535	0.0		0.0	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			1	Substitution - coding silent(1)	p.D1087D(1)	prostate(1)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3259-3261)gaC>gaT		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.		T	,,	10,3840		0,10,1915	95.0	89.0	91.0		1764,3261,3231	-7.2	0.0	10		91	0,8264		0,0,4132	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,10,6047	TT,TC,CC		0.0,0.2597,0.0825	,,	588/1786,1087/2414,1077/2404	124358594	10,12104	1925	4132	6057	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358594C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3261C>T	10.37:g.124358594C>T						DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc021qaf.1_Silent_p.D1087D|DMBT1_uc021qag.1_Silent_p.D1077D|DMBT1_uc021qah.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D	p.D1087D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			25	3367	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1087			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.3261C>T																																																																																					0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
DMBT1	1755	broad.mit.edu	37	10	124390740	124390740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124390740C>T	ENST00000338354.3	+	46	6008	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1958*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1968*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R688*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1340*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1958*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1340*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1968	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCCGGAACCGAGGCTGGTT	0.542																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0		p.R1968L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5902-5904)Cga>Tga		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							154.0	151.0	152.0					10																	124390740		2052	4198	6250	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390740C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5902C>T	10.37:g.124390740C>T	ENSP00000342210:p.Arg1968*					DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1968*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1958*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	p.R1968*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			45	6008	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1968			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5902C>T		.	.	.	.	.	.	.	.	.	.	C	44	10.679562	0.99449	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	.	.	.	5.56	-7.25	0.01470	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.2793	0.15666	0.5299:0.2152:0.1907:0.0642	.	.	.	.	X	1968;2097;1968;1968;1968;1968;1340;1958;1340;1340;1968;1958;1340;114;688	.	ENSP00000331522:R1340X	R	+	1	2	DMBT1	124380730	0.000000	0.05858	0.000000	0.03702	0.878000	0.50629	-9.404000	0.00011	-1.798000	0.01250	0.650000	0.86243	CGA		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
DOCK1	1793	broad.mit.edu	37	10	128830507	128830507	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:128830507G>A	ENST00000280333.6	+	18	1881	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	591	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCATGCAGAGCCTTGGGAGC	0.562																																						uc010qun.2																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1834-1836)aGc>aAc		Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.							27.0	28.0	28.0					10																	128830507		2141	4241	6382	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128830507G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1772G>A	10.37:g.128830507G>A	ENSP00000280333:p.Ser591Asn					DOCK1_uc001ljt.3_Missense_Mutation_p.S591N	p.S612N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	17	1899	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	591			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1835G>A		.	.	.	.	.	.	.	.	.	.	G	11.85	1.761669	0.31228	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	3.85	3.85	0.44370	.	0.048363	0.85682	D	0.000000	T	0.02380	0.0073	N	0.10837	0.055	0.33225	D	0.555216	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29027	-1.0025	10	0.25106	T	0.35	.	4.5824	0.12266	0.2677:0.0:0.7323:0.0	.	591;591	B2RUU3;Q14185	.;DOCK1_HUMAN	N	591	ENSP00000280333:S591N	ENSP00000280333:S591N	S	+	2	0	DOCK1	128720497	1.000000	0.71417	0.941000	0.38009	0.947000	0.59692	2.516000	0.45520	2.415000	0.81967	0.655000	0.94253	AGC		0.562	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
ART5	116969	broad.mit.edu	37	11	3660908	3660908	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:3660908G>C	ENST00000397068.3	-	2	1143	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ART5_ENST00000359918.4_Missense_Mutation_p.Q251E|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	251					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAGGTCTGATTATAGCTC	0.522																																						uc001lyb.1																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(751-753)Cag>Gag		Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.							85.0	93.0	90.0					11																	3660908		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660908G>C	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.751C>G	11.37:g.3660908G>C	ENSP00000380258:p.Gln251Glu					ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	p.Q251E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1144	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	251					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.751C>G	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968621|1.968621	0.34754|0.34754	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000359918;ENST00000425767|ENST00000453353	T;T;T|.	0.07688|.	3.17;3.17;3.17|.	5.95|5.95	5.03|5.03	0.67393|0.67393	.|.	0.662303|.	0.15188|.	N|.	0.275718|.	T|.	0.45577|.	0.1349|.	L|L	0.54323|0.54323	1.7|1.7	0.25738|0.25738	N|N	0.985194|0.985194	B|.	0.24132|.	0.098|.	B|.	0.27076|.	0.076|.	T|.	0.36529|.	-0.9744|.	10|.	0.10636|.	T|.	0.68|.	-11.6058|-11.6058	10.0047|10.0047	0.41951|0.41951	0.0:0.1503:0.6938:0.156|0.0:0.1503:0.6938:0.156	.|.	251|.	Q96L15|.	NAR5_HUMAN|.	E|X	251;251;132|207	ENSP00000380258:Q251E;ENSP00000352992:Q251E;ENSP00000413852:Q132E|.	ENSP00000352992:Q251E|.	Q|S	-|-	1|2	0|0	ART5|ART5	3617484|3617484	0.864000|0.864000	0.29904|0.29904	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.396000|1.396000	0.34531|0.34531	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.522	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017	
HBE1	3046	broad.mit.edu	37	11	5290821	5290821	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:5290821T>C	ENST00000380237.1	-	4	522	c.178A>G	c.(178-180)Aag>Gag	p.K60E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K60E			P02100	HBE_HUMAN	hemoglobin, epsilon 1	60					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTGACCTTGGGGTTGCCC	0.507																																						uc001mal.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(178-180)Aag>Gag		Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.							104.0	96.0	99.0					11																	5290821		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5290821T>C	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.178A>G	11.37:g.5290821T>C	ENSP00000369586:p.Lys60Glu					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	p.K60E	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	60					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.178A>G	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	T	32	5.131008	0.94473	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.92965	-3.14;-3.14;-3.14	6.06	6.06	0.98353	Globin-like (1);Globin, structural domain (1);	0.312805	0.29602	U	0.011685	D	0.95214	0.8448	M	0.90369	3.11	0.39006	D	0.959455	P	0.37781	0.608	P	0.46208	0.507	D	0.96328	0.9241	10	0.87932	D	0	-18.0649	15.4367	0.75152	0.0:0.0:0.0:1.0	.	60	P02100	HBE_HUMAN	E	60	ENSP00000369586:K60E;ENSP00000292896:K60E;ENSP00000380104:K60E	ENSP00000292896:K60E	K	-	1	0	HBE1	5247397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.361000	0.66092	2.322000	0.78497	0.528000	0.53228	AAG		0.507	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330	
OR52L1	338751	broad.mit.edu	37	11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:6008078G>A	ENST00000332249.4	-	1	137	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			0		p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(82-84)cCt>cTt		Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.							47.0	46.0	47.0					11																	6008078		1848	4093	5941	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008078G>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.83C>T	11.37:g.6008078G>A	ENSP00000330338:p.Pro28Leu						p.P28L	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	138	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.83C>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908287	0.17833	.	.	ENSG00000183313	ENST00000332249	T	0.00316	8.13	3.8	2.84	0.33178	.	0.428864	0.17351	N	0.177413	T	0.00144	0.0004	N	0.12471	0.22	0.34901	D	0.746518	B	0.13145	0.007	B	0.09377	0.004	T	0.59888	-0.7369	10	0.40728	T	0.16	.	10.9754	0.47463	0.1046:0.0:0.8954:0.0	.	28	Q8NGH7	O52L1_HUMAN	L	28	ENSP00000330338:P28L	ENSP00000330338:P28L	P	-	2	0	OR52L1	5964654	0.878000	0.30173	0.983000	0.44433	0.415000	0.31203	3.281000	0.51685	1.827000	0.53221	0.313000	0.20887	CCT		0.468	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173	
SLC1A2	6506	broad.mit.edu	37	11	35313908	35313908	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:35313908C>T	ENST00000278379.3	-	7	1299	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SLC1A2_ENST00000395753.1_Silent_p.V330V|SLC1A2_ENST00000606205.1_Silent_p.V339V|SLC1A2_ENST00000395750.1_Silent_p.V330V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	339					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TTTTCCTGGTCACTACAAAGT	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.3																			0		p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1015-1017)gtG>gtA		Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						184.0	184.0	184.0					11																	35313908		2202	4298	6500	SO:0001819	synonymous_variant	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313908C>T	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1017G>A	11.37:g.35313908C>T						SLC1A2_uc021qfx.1_Silent_p.V330V|SLC1A2_uc001mwe.3_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	p.V339V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	1609	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	339					B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	c.1017G>A	CCDS31459.1																																																																																				0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171	
CREB3L1	90993	broad.mit.edu	37	11	46321656	46321656	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46321656C>T	ENST00000529193.1	+	2	724	c.273C>T	c.(271-273)agC>agT	p.S91S	CREB3L1_ENST00000288400.3_Silent_p.S91S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	91					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACTCCCTGAGCGGCGACTCAG	0.607			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc021qil.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(271-273)agC>agT		Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.							50.0	52.0	51.0					11																	46321656		2073	4221	6294	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46321656C>T		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.273C>T	11.37:g.46321656C>T						CREB3L1_uc021qik.1_Silent_p.S91S	p.S91S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	1	708	+			91					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.273C>T	CCDS53620.1																																																																																				0.607	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	
LRP4	4038	broad.mit.edu	37	11	46916320	46916320	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46916320G>A	ENST00000378623.1	-	12	1602	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	454					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTGTGGCAGCACCTGCCGG	0.567																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1360-1362)Ctg>Ttg		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							109.0	107.0	108.0					11																	46916320		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916320G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1360C>T	11.37:g.46916320G>A							p.L454L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	11	1603	-			454					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.1360C>T	CCDS31478.1																																																																																				0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR5D14	219436	broad.mit.edu	37	11	55563704	55563704	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:55563704G>C	ENST00000335605.1	+	1	673	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	225						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)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCATTTTTGTGACTGTACT	0.478																																						uc010rim.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(673-675)Gtg>Ctg		Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.							164.0	154.0	158.0					11																	55563704		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563704G>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.673G>C	11.37:g.55563704G>C	ENSP00000334456:p.Val225Leu						p.V225L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			0	673	+		all_epithelial(135;0.196)	225					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.673G>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	4.742	0.137937	0.09083	.	.	ENSG00000186113	ENST00000335605	T	0.35973	1.28	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000975	T	0.28067	0.0692	L	0.28274	0.84	0.09310	N	1	B	0.16802	0.019	B	0.23852	0.049	T	0.18398	-1.0338	10	0.45353	T	0.12	-19.5672	12.9041	0.58141	0.0:0.1635:0.8365:0.0	.	225	Q8NGL3	OR5DE_HUMAN	L	225	ENSP00000334456:V225L	ENSP00000334456:V225L	V	+	1	0	OR5D14	55320280	0.000000	0.05858	0.914000	0.36105	0.023000	0.10783	-0.910000	0.04054	2.363000	0.80096	0.643000	0.83706	GTG		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
OR6Q1	219952	broad.mit.edu	37	11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T	rs369989982		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:57798590C>T	ENST00000302622.3	+	1	189	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTGGACCACCGACTACGGAG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20831	0.0		0.0	False		,,,				2504	0.001					uc010rjz.2																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(166-168)Cga>Tga		Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.		C	stop/ARG	0,4402		0,0,2201	220.0	208.0	212.0		166	3.0	0.0	11		212	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	OR6Q1	NM_001005186.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		56/318	57798590	2,12992	2201	4296	6497	SO:0001587	stop_gained	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798590C>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.166C>T	11.37:g.57798590C>T	ENSP00000307734:p.Arg56*					OR9Q1_uc001nmj.3_Intron	p.R56*	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			0	166	+		Breast(21;0.0707)|all_epithelial(135;0.142)	56					B9EKW1|Q6IFH1|Q96R34	Nonsense_Mutation	SNP	ENST00000302622.3	37	c.166C>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058064	0.36277	0.0	2.33E-4	ENSG00000172381	ENST00000302622	.	.	.	5.04	2.99	0.34606	.	0.258733	0.19558	N	0.111396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1669	0.15090	0.3441:0.5479:0.0:0.108	.	.	.	.	X	56	.	ENSP00000307734:R56X	R	+	1	2	OR6Q1	57555166	0.000000	0.05858	0.018000	0.16275	0.336000	0.28762	0.019000	0.13444	1.121000	0.41925	0.643000	0.83706	CGA		0.478	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186	
OOSP2	219990	broad.mit.edu	37	11	59812205	59812205	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:59812205A>T	ENST00000278855.2	+	3	490	c.305A>T	c.(304-306)gAt>gTt	p.D102V	PLAC1L_ENST00000532905.1_Missense_Mutation_p.D71V	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		102						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAATATAGATCATGACCCT	0.408																																						uc001nol.3																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(304-306)gAt>gTt		Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							116.0	107.0	110.0					11																	59812205		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59812205A>T																												ENST00000278855.2:c.305A>T	11.37:g.59812205A>T	ENSP00000278855:p.Asp102Val						p.D102V	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			2	490	+			102					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.305A>T	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	A	7.615	0.675641	0.14841	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.83163	-1.69;-1.69	3.02	-2.4	0.06583	.	1.480420	0.04814	N	0.435793	T	0.62097	0.2400	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.45862	-0.9232	10	0.42905	T	0.14	0.016	0.3156	0.00295	0.3392:0.2016:0.2622:0.197	.	102	Q86WS3	PLACL_HUMAN	V	102;71	ENSP00000278855:D102V;ENSP00000433831:D71V	ENSP00000278855:D102V	D	+	2	0	PLAC1L	59568781	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.061000	0.11693	-0.532000	0.06332	0.460000	0.39030	GAT		0.408	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		
AHNAK	79026	broad.mit.edu	37	11	62299512	62299512	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:62299512T>A	ENST00000378024.4	-	5	2651	c.2377A>T	c.(2377-2379)Agc>Tgc	p.S793C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	793					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTCAATGCTCACATCAGGA	0.502																																						uc001ntl.3																			0				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						c.(2377-2379)Agc>Tgc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							147.0	150.0	149.0					11																	62299512		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299512T>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.2377A>T	11.37:g.62299512T>A	ENSP00000367263:p.Ser793Cys					AHNAK_uc001ntk.1_Intron	p.S793C	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	2677	-		Melanoma(852;0.155)	793					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2377A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921089	0.33908	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	5.46	4.31	0.51392	.	1.078080	0.07240	N	0.864055	T	0.04318	0.0119	M	0.78049	2.395	0.24864	N	0.992328	D	0.61697	0.99	D	0.63703	0.917	T	0.43163	-0.9408	10	0.52906	T	0.07	-0.9326	3.931	0.09285	0.0:0.1866:0.1884:0.625	.	793	Q09666	AHNK_HUMAN	C	793	ENSP00000367263:S793C	ENSP00000367263:S793C	S	-	1	0	AHNAK	62056088	0.000000	0.05858	0.598000	0.28837	0.226000	0.24999	0.298000	0.19120	0.889000	0.36185	0.374000	0.22700	AGC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
DPP3	10072	broad.mit.edu	37	11	66252660	66252660	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:66252660C>T	ENST00000360510.2	+	3	352	c.287C>T	c.(286-288)gCc>gTc	p.A96V	DPP3_ENST00000453114.1_Missense_Mutation_p.A96V|DPP3_ENST00000532677.1_Missense_Mutation_p.A115V|DPP3_ENST00000531863.1_Missense_Mutation_p.A116V|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000541961.1_Missense_Mutation_p.A96V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	96					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTCTATGCCGCGGGTGTT	0.592																																						uc001oig.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(286-288)gCc>gTc		Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.							94.0	79.0	84.0					11																	66252660		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66252660C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.287C>T	11.37:g.66252660C>T	ENSP00000353701:p.Ala96Val					DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	p.A96V	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN			2	349	+			96					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.287C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611084	0.46631	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000347422;ENST00000531354	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.0	5.0	0.66597	.	0.053275	0.85682	D	0.000000	T	0.35393	0.0930	L	0.33753	1.03	0.58432	D	0.999996	B	0.21071	0.051	B	0.17979	0.02	T	0.18147	-1.0346	10	0.62326	D	0.03	.	15.8206	0.78638	0.0:1.0:0.0:0.0	.	96	Q9NY33	DPP3_HUMAN	V	116;115;96;96;96;96;96	ENSP00000432782:A116V;ENSP00000435284:A115V;ENSP00000353701:A96V;ENSP00000389943:A96V;ENSP00000440502:A96V;ENSP00000432618:A96V	ENSP00000309957:A96V	A	+	2	0	DPP3	66009236	1.000000	0.71417	0.597000	0.28824	0.379000	0.30106	6.731000	0.74785	2.331000	0.79229	0.467000	0.42956	GCC		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
MMP7	4316	broad.mit.edu	37	11	102395756	102395756	+	Missense_Mutation	SNP	G	G	A	rs542899524		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:102395756G>A	ENST00000260227.4	-	4	576	c.524C>T	c.(523-525)aCg>aTg	p.T175M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	175					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ATGAGCCAGCGTGTTTCCTGG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.001		0.0	False		,,,				2504	0.0					uc001phb.3																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(523-525)aCg>aTg		Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.							96.0	80.0	86.0					11																	102395756		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395756G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.524C>T	11.37:g.102395756G>A	ENSP00000260227:p.Thr175Met					MMP7_uc009yxd.3_Missense_Mutation_p.T175M	p.T175M	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	3	571	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	175					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.524C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887638	0.52014	.	.	ENSG00000137673	ENST00000260227	T	0.21734	1.99	5.12	2.21	0.28008	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.208606	0.33144	N	0.005226	T	0.45216	0.1331	M	0.92649	3.33	0.09310	N	0.999999	D;D	0.60575	0.973;0.988	P;P	0.57324	0.749;0.818	T	0.40098	-0.9581	10	0.59425	D	0.04	-29.6816	8.8158	0.34996	0.293:0.0:0.707:0.0	.	175;175	Q53GF1;P09237	.;MMP7_HUMAN	M	175	ENSP00000260227:T175M	ENSP00000260227:T175M	T	-	2	0	MMP7	101900966	0.000000	0.05858	0.710000	0.30468	0.797000	0.45037	0.050000	0.14120	0.578000	0.29487	0.655000	0.94253	ACG		0.478	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
PPP2R1B	5519	broad.mit.edu	37	11	111631562	111631562	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:111631562C>G	ENST00000527614.1	-	4	585	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.V110L|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.V174L|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.V174L|PPP2R1B_ENST00000427203.2_Intron|PPP2R1B_ENST00000393055.2_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	174					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTGCTTTAACAGCATTTGAT	0.438																																						uc001plw.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(520-522)Gtt>Ctt		Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.							73.0	68.0	70.0					11																	111631562		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111631562C>G	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.520G>C	11.37:g.111631562C>G	ENSP00000437193:p.Val174Leu					PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc001plx.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron|PPP2R1B_uc010rwj.1_Intron	p.V174L	NM_181699	NP_859050	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	3	604	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	174					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.520G>C	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510270	0.27036	.	.	ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000341980	T;T;T;T	0.06142	3.34;3.34;3.34;3.34	6.17	-0.166	0.13351	Armadillo-like helical (1);Armadillo-type fold (1);	0.172219	0.50627	N	0.000113	T	0.03305	0.0096	N	0.20445	0.575	0.80722	D	1	B;B;B;B	0.13594	0.008;0.002;0.001;0.001	B;B;B;B	0.17433	0.018;0.001;0.004;0.008	T	0.50021	-0.8876	10	0.15066	T	0.55	-1.6272	6.2062	0.20604	0.0:0.5184:0.119:0.3626	.	174;110;174;174	F8W8G1;B4DWW5;P30154;P30154-2	.;.;2AAB_HUMAN;.	L	174;110;174;174	ENSP00000311344:V174L;ENSP00000410671:V110L;ENSP00000437193:V174L;ENSP00000343317:V174L	ENSP00000311344:V174L	V	-	1	0	PPP2R1B	111136772	0.990000	0.36364	0.968000	0.41197	0.829000	0.46940	1.531000	0.36018	-0.268000	0.09312	0.655000	0.94253	GTT		0.438	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	
OR8D1	283159	broad.mit.edu	37	11	124180313	124180313	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124180313G>C	ENST00000357821.2	-	1	420	c.350C>G	c.(349-351)gCc>gGc	p.A117G		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		ATATGCCATGGCAGTCAGGAG	0.478																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(349-351)gCc>gGc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							78.0	71.0	73.0					11																	124180313		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180313G>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.350C>G	11.37:g.124180313G>C	ENSP00000350474:p.Ala117Gly						p.A117G	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	350	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.350C>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.802275	0.31869	.	.	ENSG00000196341	ENST00000357821	T	0.03124	4.04	4.29	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.478549	0.15041	U	0.283863	T	0.13500	0.0327	M	0.89478	3.035	0.09310	N	1	D	0.55385	0.971	P	0.54431	0.752	T	0.04090	-1.0978	10	0.87932	D	0	.	8.3887	0.32516	0.4186:0.0:0.5814:0.0	.	117	Q8WZ84	OR8D1_HUMAN	G	117	ENSP00000350474:A117G	ENSP00000350474:A117G	A	-	2	0	OR8D1	123685523	0.000000	0.05858	0.046000	0.18839	0.070000	0.16714	-1.197000	0.03038	0.390000	0.25115	0.508000	0.49915	GCC		0.478	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917	
CCDC15	80071	broad.mit.edu	37	11	124910501	124910501	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124910501T>C	ENST00000344762.5	+	16	3009	c.2750T>C	c.(2749-2751)cTa>cCa	p.L917P	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.L928P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	917						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACTCGGGCACTACATTCATTC	0.393																																						uc001qbm.4																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2749-2751)cTa>cCa		Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.							61.0	61.0	61.0					11																	124910501		1848	4089	5937	SO:0001583	missense	80071					centrosome		g.chr11:124910501T>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2750T>C	11.37:g.124910501T>C	ENSP00000341684:p.Leu917Pro						p.L917P	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	15	3009	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	917					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2750T>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797432	0.70567	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.63580	0.16;-0.05	5.13	5.13	0.70059	.	.	.	.	.	T	0.76870	0.4048	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.79667	-0.1708	9	0.87932	D	0	-5.1244	14.0603	0.64795	0.0:0.0:0.0:1.0	.	917	Q0P6D6	CCD15_HUMAN	P	928;917	ENSP00000435403:L928P;ENSP00000341684:L917P	ENSP00000341684:L917P	L	+	2	0	CCDC15	124415711	0.958000	0.32768	0.771000	0.31576	0.979000	0.70002	5.139000	0.64801	2.150000	0.67090	0.533000	0.62120	CTA		0.393	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
VWF	7450	broad.mit.edu	37	12	6153612	6153612	+	Missense_Mutation	SNP	T	T	C	rs61748469		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:6153612T>C	ENST00000261405.5	-	18	2541	c.2287A>G	c.(2287-2289)Agg>Ggg	p.R763G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	763					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATAGGCTCCTTTTGCCTCGA	0.522																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM064355	VWF	M		c.(2287-2289)Agg>Ggg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						51.0	47.0	48.0					12																	6153612		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153612T>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2287A>G	12.37:g.6153612T>C	ENSP00000261405:p.Arg763Gly					VWF_uc010set.1_Intron	p.R763G	NM_000552	NP_000543	P04275	VWF_HUMAN			17	2537	-			763					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2287A>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480154	0.63849	.	.	ENSG00000110799	ENST00000261405	T	0.36699	1.24	4.11	2.92	0.33932	.	0.000000	0.40554	N	0.001070	T	0.37892	0.1020	M	0.77820	2.39	0.80722	D	1	B	0.27351	0.176	B	0.24974	0.057	T	0.28459	-1.0043	10	0.56958	D	0.05	.	9.797	0.40742	0.0:0.0:0.1738:0.8262	rs61748469	763	P04275	VWF_HUMAN	G	763	ENSP00000261405:R763G	ENSP00000261405:R763G	R	-	1	2	VWF	6023873	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.379000	0.34340	0.606000	0.29965	0.460000	0.39030	AGG		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
A2M	2	broad.mit.edu	37	12	9251275	9251275	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:9251275G>C	ENST00000318602.7	-	15	2086	c.1779C>G	c.(1777-1779)tcC>tcG	p.S593S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	593					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGGCGCAGACGGACTGAGGAG	0.582																																						uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1777-1779)tcC>tcG		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)						40.0	41.0	40.0					12																	9251275		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9251275G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1779C>G	12.37:g.9251275G>C						A2M_uc009zgk.1_Silent_p.S443S	p.S593S	NM_000014	NP_000005	P01023	A2MG_HUMAN			14	1892	-			593					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1779C>G	CCDS44827.1																																																																																				0.582	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
KMT2D	8085	broad.mit.edu	37	12	49416568	49416568	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:49416568C>A	ENST00000301067.7	-	51	16142	c.16143G>T	c.(16141-16143)gtG>gtT	p.V5381V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5381					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACTTGGAGTGCACAAACTGCT	0.587																																						uc001rta.4										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(16141-16143)gtG>gtT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							117.0	130.0	126.0					12																	49416568		2109	4232	6341	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416568C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16143G>T	12.37:g.49416568C>A		HNSCC(34;0.089)					p.V5381V	NM_003482	NP_003473	O14686	MLL2_HUMAN			50	16143	-			5381					O14687	Silent	SNP	ENST00000301067.7	37	c.16143G>T	CCDS44873.1																																																																																				0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT84	3890	broad.mit.edu	37	12	52771859	52771859	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52771859G>A	ENST00000257951.3	-	9	1828	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	588	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACAAAGCGGACGCTGGAG	0.677																																						uc001sah.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1762-1764)Cgc>Tgc		Homo sapiens keratin 84 (KRT84), mRNA.							20.0	20.0	20.0					12																	52771859		2201	4295	6496	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52771859G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1762C>T	12.37:g.52771859G>A	ENSP00000257951:p.Arg588Cys						p.R588C	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	8	1810	-	all_hematologic(5;0.12)		588			Tail.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1762C>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245425	0.22796	.	.	ENSG00000161849	ENST00000257951	D	0.82803	-1.65	3.75	3.75	0.43078	.	0.236039	0.22094	N	0.064701	T	0.75413	0.3846	N	0.14661	0.345	0.36669	D	0.878361	D	0.76494	0.999	P	0.50082	0.63	T	0.81927	-0.0709	10	0.87932	D	0	.	11.2604	0.49080	0.0:0.0:1.0:0.0	.	588	Q9NSB2	KRT84_HUMAN	C	588	ENSP00000257951:R588C	ENSP00000257951:R588C	R	-	1	0	KRT84	51058126	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	4.495000	0.60353	2.095000	0.63458	0.462000	0.41574	CGC		0.677	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT74	121391	broad.mit.edu	37	12	52960950	52960950	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52960950C>T	ENST00000305620.2	-	9	1440	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	KRT74_ENST00000549343.1_Missense_Mutation_p.V479I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	465	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607																																						uc001sap.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1393-1395)Gtc>Atc		Homo sapiens keratin 74 (KRT74), mRNA.							23.0	22.0	22.0					12																	52960950		2203	4299	6502	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52960950C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1393G>A	12.37:g.52960950C>T	ENSP00000307240:p.Val465Ile						p.V465I	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	8	1441	-			465			Tail.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1393G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876589	0.17395	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.83075	-1.68;-1.68	4.39	2.56	0.30785	.	0.262304	0.20304	N	0.094974	T	0.76343	0.3974	L	0.56280	1.765	0.28144	N	0.929677	B	0.02656	0.0	B	0.01281	0.0	T	0.68823	-0.5307	10	0.62326	D	0.03	.	6.922	0.24393	0.0:0.7864:0.0:0.2136	.	465	Q7RTS7	K2C74_HUMAN	I	479;465	ENSP00000447447:V479I;ENSP00000307240:V465I	ENSP00000307240:V465I	V	-	1	0	KRT74	51247217	0.000000	0.05858	0.605000	0.28930	0.183000	0.23260	-0.772000	0.04694	0.602000	0.29896	-0.137000	0.14449	GTC		0.607	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
ZBTB39	9880	broad.mit.edu	37	12	57397937	57397937	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:57397937G>T	ENST00000300101.2	-	2	850	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTTTTTACTGAAGTCTCCAT	0.517																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(763-765)ttC>ttA		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							78.0	70.0	73.0					12																	57397937		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397937G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.765C>A	12.37:g.57397937G>T	ENSP00000300101:p.Phe255Leu					ZBTB39_uc021qzg.1_Missense_Mutation_p.F255L	p.F255L	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	918	-			255					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.765C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	6.591	0.477311	0.12521	.	.	ENSG00000166860	ENST00000300101	T	0.08008	3.14	5.29	3.32	0.38043	.	0.503034	0.20536	N	0.090416	T	0.05273	0.0140	N	0.19112	0.55	0.28400	N	0.918693	P	0.34662	0.462	B	0.29077	0.098	T	0.21724	-1.0237	10	0.66056	D	0.02	-19.0479	8.9735	0.35921	0.1943:0.0:0.8057:0.0	.	255	O15060	ZBT39_HUMAN	L	255	ENSP00000300101:F255L	ENSP00000300101:F255L	F	-	3	2	ZBTB39	55684204	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.608000	0.36847	1.459000	0.47892	0.650000	0.86243	TTC		0.517	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
OS9	10956	broad.mit.edu	37	12	58112083	58112083	+	Missense_Mutation	SNP	G	G	A	rs193011962		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:58112083G>A	ENST00000315970.7	+	11	1330	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	OS9_ENST00000389142.5_Missense_Mutation_p.R430Q|OS9_ENST00000551035.1_Missense_Mutation_p.R398Q|OS9_ENST00000435406.2_Missense_Mutation_p.R378Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Missense_Mutation_p.R224Q|OS9_ENST00000439210.2_Missense_Mutation_p.R371Q|OS9_ENST00000552285.1_Missense_Mutation_p.R430Q|OS9_ENST00000389146.6_Missense_Mutation_p.R430Q|OS9_ENST00000257966.8_Missense_Mutation_p.R431Q	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	430					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.R430Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			gaggatgaACGGCAGTTACTG	0.547																																						uc001spj.3																			1	Substitution - Missense(1)	p.R430Q(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1288-1290)cGg>cAg		Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.							227.0	195.0	205.0					12																	58112083		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58112083G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1289G>A	12.37:g.58112083G>A	ENSP00000318165:p.Arg430Gln					OS9_uc010srx.2_Missense_Mutation_p.R224Q|OS9_uc001spk.3_Missense_Mutation_p.R430Q|OS9_uc001spl.3_Missense_Mutation_p.R430Q|OS9_uc001spm.3_Missense_Mutation_p.R430Q|OS9_uc001spn.3_Missense_Mutation_p.R431Q|OS9_uc010sry.2_Missense_Mutation_p.R398Q|OS9_uc010srz.2_Missense_Mutation_p.R371Q	p.R430Q	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1496	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		430					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1289G>A	CCDS31843.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.759	0.923047	0.18056	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.29397	2.04;2.04;2.0;2.03;1.57;2.01;2.01;2.01;2.03	5.54	0.137	0.14787	.	0.687185	0.14284	N	0.329354	T	0.11793	0.0287	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B;B	0.27192	0.123;0.012;0.171;0.015;0.007;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.22152	0.005;0.005;0.038;0.002;0.002;0.001;0.001;0.001	T	0.32508	-0.9904	10	0.05959	T	0.93	.	11.3609	0.49642	0.5767:0.0:0.4233:0.0	.	371;398;224;431;430;430;430;430	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	Q	430;430;371;430;224;398;431;378;430	ENSP00000450010:R430Q;ENSP00000318165:R430Q;ENSP00000407360:R371Q;ENSP00000373798:R430Q;ENSP00000413112:R224Q;ENSP00000447866:R398Q;ENSP00000257966:R431Q;ENSP00000389632:R378Q;ENSP00000373794:R430Q	ENSP00000257966:R431Q	R	+	2	0	OS9	56398350	0.001000	0.12720	0.360000	0.25837	0.942000	0.58702	-0.186000	0.09670	-0.363000	0.08101	-0.797000	0.03246	CGG		0.547	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812	
PAH	5053	broad.mit.edu	37	12	103246597	103246597	+	Missense_Mutation	SNP	C	C	T	rs199475668|rs62508698|rs281865429		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:103246597C>T	ENST00000553106.1	-	7	1310	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	PAH_ENST00000307000.2_Missense_Mutation_p.E275K|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	280			E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity). {ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:2564729, ECO:0000269|PubMed:8889590}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCACGGTTCGGGGGTATAC	0.547																																						uc001tjq.1																			0		p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CM890094	PAH	M	rs62508698	c.(838-840)Gaa>Aaa		Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	C	LYS/GLU	0,4406		0,0,2203	133.0	127.0	129.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	838	5.7	1.0	12	dbSNP_129	129	2,8598	2.2+/-6.3	0,2,4298	no	missense	PAH	NM_000277.1	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	280/453	103246597	2,13004	2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246597C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.838G>A	12.37:g.103246597C>T	ENSP00000448059:p.Glu280Lys						p.E280K	NM_000277	NP_000268	P00439	PH4H_HUMAN			6	1311	-			280		E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.838G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956694	0.92726	0.0	2.33E-4	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99755	-6.64;-6.64	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.99104	4.43	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96231	0.9168	9	0.87932	D	0	.	19.8956	0.96956	0.0:1.0:0.0:0.0	.	280	P00439	PH4H_HUMAN	K	280;275	ENSP00000448059:E280K;ENSP00000303500:E275K	ENSP00000303500:E275K	E	-	1	0	PAH	101770727	1.000000	0.71417	0.973000	0.42090	0.358000	0.29455	7.818000	0.86416	2.708000	0.92522	0.563000	0.77884	GAA		0.547	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
TCTN2	79867	broad.mit.edu	37	12	124156084	124156084	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:124156084G>A	ENST00000303372.5	+	2	241	c.113G>A	c.(112-114)gGc>gAc	p.G38D	TCTN2_ENST00000426174.2_Missense_Mutation_p.G38D	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	38					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGAATGTCCGGCCCTGCGGTC	0.617																																						uc001ufp.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(112-114)gGc>gAc		Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.							82.0	77.0	79.0					12																	124156084		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124156084G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.113G>A	12.37:g.124156084G>A	ENSP00000304941:p.Gly38Asp					TCTN2_uc009zya.3_Missense_Mutation_p.G38D	p.G38D	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	1	241	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		38					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.113G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.030051	0.35797	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.84146	-1.81;-1.81	4.65	4.65	0.58169	.	0.350112	0.30151	N	0.010281	T	0.81861	0.4912	L	0.54323	1.7	0.39501	D	0.968202	B;B	0.33494	0.414;0.414	B;B	0.28638	0.092;0.092	D	0.84533	0.0634	10	0.72032	D	0.01	-7.7042	16.2433	0.82426	0.0:0.0:1.0:0.0	.	38;38	A8K7Y8;Q96GX1	.;TECT2_HUMAN	D	38	ENSP00000395171:G38D;ENSP00000304941:G38D	ENSP00000304941:G38D	G	+	2	0	TCTN2	122722037	0.978000	0.34361	0.216000	0.23742	0.208000	0.24298	3.461000	0.53035	2.519000	0.84933	0.650000	0.86243	GGC		0.617	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
RNF17	56163	broad.mit.edu	37	13	25363875	25363875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:25363875C>A	ENST00000255324.5	+	9	952	c.900C>A	c.(898-900)aaC>aaA	p.N300K	RNF17_ENST00000381921.1_Missense_Mutation_p.N300K|RNF17_ENST00000255325.6_Missense_Mutation_p.N300K|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	300					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATGTTCAACAATATGGGAA	0.308																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(898-900)aaC>aaA		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							165.0	166.0	166.0					13																	25363875		2203	4296	6499	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25363875C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.900C>A	13.37:g.25363875C>A	ENSP00000255324:p.Asn300Lys					RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010tde.2_Missense_Mutation_p.N300K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	p.N300K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	8	941	+		Lung SC(185;0.0225)|Breast(139;0.077)	300					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.900C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292392	0.10567	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.16324	3.63;3.63;2.35	4.85	1.93	0.25924	.	0.362765	0.23863	N	0.043838	T	0.06416	0.0165	N	0.11560	0.145	0.24812	N	0.992634	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.11329	0.0;0.0;0.006	T	0.40421	-0.9564	10	0.07175	T	0.84	.	5.6205	0.17455	0.4445:0.459:0.0:0.0966	.	300;300;300	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	K	300;300;159;301;300	ENSP00000255324:N300K;ENSP00000371346:N300K;ENSP00000255325:N301K	ENSP00000255324:N300K	N	+	3	2	RNF17	24261875	1.000000	0.71417	0.729000	0.30791	0.983000	0.72400	0.901000	0.28445	0.658000	0.30925	-0.158000	0.13435	AAC		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
BRCA2	675	broad.mit.edu	37	13	32903619	32903619	+	Missense_Mutation	SNP	A	A	T	rs397507878		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:32903619A>T	ENST00000380152.3	+	8	904	c.671A>T	c.(670-672)gAt>gTt	p.D224V	BRCA2_ENST00000544455.1_Missense_Mutation_p.D224V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	224					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCCTCATGATACTACTGCT	0.259			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM085287	BRCA2	M		c.(670-672)gAt>gTt	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							58.0	57.0	57.0					13																	32903619		2199	4283	6482	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32903619A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.671A>T	13.37:g.32903619A>T	ENSP00000369497:p.Asp224Val	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.D101V	p.D224V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	7	898	+		Lung SC(185;0.0262)	224					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.671A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638647	0.67130	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01092	5.35;5.35	5.54	4.36	0.52297	.	0.177858	0.39407	N	0.001363	T	0.03651	0.0104	L	0.49126	1.545	0.51012	D	0.999907	D;D	0.89917	0.999;1.0	D;D	0.71414	0.95;0.973	T	0.43327	-0.9398	10	0.87932	D	0	.	7.6191	0.28175	0.9066:0.0:0.0934:0.0	.	224;224	P51587;A1YBP1	BRCA2_HUMAN;.	V	224;224;222	ENSP00000369497:D224V;ENSP00000439902:D224V	ENSP00000369497:D224V	D	+	2	0	BRCA2	31801619	0.114000	0.22134	0.899000	0.35326	0.949000	0.60115	1.804000	0.38873	2.234000	0.73211	0.459000	0.35465	GAT		0.259	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
TUBGCP3	10426	broad.mit.edu	37	13	113181294	113181294	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:113181294A>T	ENST00000261965.3	-	13	1703	c.1517T>A	c.(1516-1518)aTg>aAg	p.M506K	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.M506K	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	506					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACAGCTATCATCTTTGTAGT	0.413																																						uc001vse.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1516-1518)aTg>aAg		Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.							196.0	156.0	169.0					13																	113181294		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181294A>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1517T>A	13.37:g.113181294A>T	ENSP00000261965:p.Met506Lys					TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.M506K	p.M506K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			12	1704	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		506					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1517T>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244533	0.22796	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.06449	3.3;3.3	4.67	4.67	0.58626	.	0.112845	0.64402	D	0.000001	T	0.01905	0.0060	N	0.01352	-0.895	0.44447	D	0.997379	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38001	-0.9681	10	0.05959	T	0.93	-31.4113	8.8329	0.35096	0.9145:0.0:0.0855:0.0	.	496;506;506	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	K	506	ENSP00000261965:M506K;ENSP00000364821:M506K	ENSP00000261965:M506K	M	-	2	0	TUBGCP3	112229295	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	6.725000	0.74752	1.751000	0.51876	0.165000	0.16767	ATG		0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	T	rs549195122		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24729739C>T	ENST00000206765.6	-	4	797	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	225			R -> H (in ARCI1).|R -> P (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587																																						uc001wod.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24	GRCh37	CM981915	TGM1	M		c.(673-675)cGc>cAc		Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	L-Glutamine(DB00130)						193.0	163.0	173.0					14																	24729739		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729739C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.674G>A	14.37:g.24729739C>T	ENSP00000206765:p.Arg225His					TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	p.R225H	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	798	-			225		R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.674G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965181	0.53507	.	.	ENSG00000092295	ENST00000206765	D	0.84660	-1.88	6.02	6.02	0.97574	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.400337	0.29376	N	0.012331	D	0.85168	0.5635	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.83872	0.0274	10	0.44086	T	0.13	-23.9883	9.3387	0.38067	0.0:0.8486:0.0:0.1514	.	225	P22735	TGM1_HUMAN	H	225	ENSP00000206765:R225H	ENSP00000206765:R225H	R	-	2	0	TGM1	23799579	0.966000	0.33281	0.997000	0.53966	0.326000	0.28443	1.335000	0.33839	2.865000	0.98341	0.655000	0.94253	CGC		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
NYNRIN	57523	broad.mit.edu	37	14	24886187	24886187	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24886187G>A	ENST00000382554.3	+	9	5550	c.5232G>A	c.(5230-5232)ctG>ctA	p.L1744L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1744	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTTTGCTGCACCTGGCCT	0.622																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5230-5232)ctG>ctA		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							25.0	28.0	27.0					14																	24886187		2045	4189	6234	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886187G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5232G>A	14.37:g.24886187G>A							p.L1744L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			8	5550	+			1744			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5232G>A	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
FOXA1	3169	broad.mit.edu	37	14	38061688	38061688	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:38061688C>T	ENST00000250448.2	-	2	362	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FOXA1_ENST00000540786.1_Missense_Mutation_p.V68M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	101					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGCCGTCACGCCGGCCGCA	0.741																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(301-303)Gtg>Atg		Homo sapiens forkhead box A1 (FOXA1), mRNA.							19.0	20.0	19.0					14																	38061688		2131	4147	6278	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061688C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.301G>A	14.37:g.38061688C>T	ENSP00000250448:p.Val101Met					FOXA1_uc010tpz.2_Missense_Mutation_p.V68M	p.V101M	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	613	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		101					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.301G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346212	0.41599	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.15487	2.42;2.42	4.2	4.2	0.49525	Fork-head N-terminal (1);	0.237375	0.33419	N	0.004931	T	0.12689	0.0308	L	0.27053	0.805	0.48395	D	0.999646	B	0.34226	0.443	B	0.31946	0.138	T	0.14392	-1.0474	10	0.21014	T	0.42	.	16.3284	0.82996	0.0:1.0:0.0:0.0	.	101	P55317	FOXA1_HUMAN	M	101;68	ENSP00000250448:V101M;ENSP00000440178:V68M	ENSP00000250448:V101M	V	-	1	0	FOXA1	37131439	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	3.391000	0.52530	2.164000	0.68074	0.511000	0.50034	GTG		0.741	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
PPM1A	5494	broad.mit.edu	37	14	60749967	60749967	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:60749967A>G	ENST00000395076.4	+	2	976	c.546A>G	c.(544-546)gtA>gtG	p.V182V	PPM1A_ENST00000325642.3_Silent_p.V255V|PPM1A_ENST00000325658.3_Silent_p.V182V|PPM1A_ENST00000529574.1_Silent_p.V182V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	182					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTGGCTCTGTAATGATTCAGC	0.443																																						uc001xew.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(763-765)gtA>gtG		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.							91.0	88.0	89.0					14																	60749967		2203	4300	6503	SO:0001819	synonymous_variant	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749967A>G	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.546A>G	14.37:g.60749967A>G						PPM1A_uc010apn.3_Silent_p.V182V|PPM1A_uc001xex.4_Silent_p.V182V|PPM1A_uc001xey.4_Silent_p.V182V	p.V255V	NM_177952	NP_808821	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	1	861	+			182					B5BU11|J3KNM0|O75551	Silent	SNP	ENST00000395076.4	37	c.765A>G	CCDS9744.1																																																																																				0.443	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
AHNAK2	113146	broad.mit.edu	37	14	105409035	105409035	+	Silent	SNP	A	A	G	rs367653109		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:105409035A>G	ENST00000333244.5	-	7	12872	c.12753T>C	c.(12751-12753)gaT>gaC	p.D4251D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4251						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)				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)			GGGTCATCACATCCGCCTTGG	0.642																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12751-12753)gaT>gaC		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							118.0	130.0	126.0					14																	105409035		1909	4118	6027	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409035A>G	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.12753T>C	14.37:g.105409035A>G						AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4151D	p.D4251D	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)		6	12873	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4251					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12753T>C	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
GABRB3	2562	broad.mit.edu	37	15	26866466	26866466	+	Silent	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:26866466C>G	ENST00000311550.5	-	4	567	c.456G>C	c.(454-456)ggG>ggC	p.G152G	GABRB3_ENST00000545868.1_Silent_p.G67G|GABRB3_ENST00000299267.4_Silent_p.G152G|GABRB3_ENST00000541819.2_Silent_p.G208G|GABRB3_ENST00000400188.3_Silent_p.G81G	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	152					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.G152G(2)|p.G208G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGACCTGAGCCCATACAGCA	0.448																																						uc001zbb.3																			3	Substitution - coding silent(3)	p.G152G(2)|p.G208G(1)	endometrium(3)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(622-624)ggG>ggC		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						131.0	109.0	117.0					15																	26866466		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866466C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.456G>C	15.37:g.26866466C>G						GABRB3_uc021sgg.1_Silent_p.G81G|GABRB3_uc021sgh.1_Silent_p.G67G|GABRB3_uc001zaz.3_Silent_p.G152G|GABRB3_uc001zba.3_Silent_p.G152G|GABRB3_uc001zbc.3_Non-coding_Transcript	p.G208G	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	727	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	152					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.624G>C	CCDS10019.1																																																																																				0.448	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
TCF12	6938	broad.mit.edu	37	15	57543615	57543615	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:57543615C>G	ENST00000267811.5	+	14	1486	c.1182C>G	c.(1180-1182)caC>caG	p.H394Q	TCF12_ENST00000543579.1_Missense_Mutation_p.H224Q|TCF12_ENST00000343827.3_Missense_Mutation_p.H224Q|TCF12_ENST00000438423.2_Missense_Mutation_p.H394Q|TCF12_ENST00000537840.1_Missense_Mutation_p.H158Q|TCF12_ENST00000559703.1_Missense_Mutation_p.H28Q|TCF12_ENST00000559710.1_Missense_Mutation_p.H28Q|TCF12_ENST00000452095.2_Missense_Mutation_p.H390Q|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Missense_Mutation_p.H394Q|TCF12_ENST00000333725.5_Missense_Mutation_p.H394Q	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	394					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTCACTCCACTCCCTGGTAA	0.448			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1180-1182)caC>caG		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.							135.0	109.0	118.0					15																	57543615		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57543615C>G	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1182C>G	15.37:g.57543615C>G	ENSP00000267811:p.His394Gln					TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.3_Missense_Mutation_p.H394Q|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H394Q|TCF12_uc002aed.3_Missense_Mutation_p.H394Q|TCF12_uc010ugo.2_Missense_Mutation_p.H158Q|TCF12_uc002aee.3_Missense_Mutation_p.H224Q|TCF12_uc010bft.3_Missense_Mutation_p.H224Q|TCF12_uc010ugp.2_Missense_Mutation_p.H28Q|TCF12_uc010ugq.2_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	p.H394Q	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	13	1466	+		Colorectal(260;0.0907)	394					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1182C>G	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859419	0.91433	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.73	5.73	0.89815	.	0.088881	0.85682	D	0.000000	T	0.78426	0.4281	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.995;0.998;1.0;0.99;0.998;0.999;0.997;0.995;0.997	D;D;D;D;D;D;D;D;D	0.79784	0.979;0.983;0.991;0.989;0.935;0.993;0.991;0.979;0.991	T	0.76729	-0.2852	10	0.51188	T	0.08	-8.1125	20.2786	0.98501	0.0:1.0:0.0:0.0	.	28;224;158;390;446;224;224;394;394	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;HTF4_HUMAN;.	Q	446;394;394;390;394;224;158;224	ENSP00000267811:H394Q;ENSP00000388940:H394Q;ENSP00000396881:H390Q;ENSP00000331057:H394Q;ENSP00000440017:H224Q;ENSP00000444696:H158Q;ENSP00000342459:H224Q	ENSP00000267811:H394Q	H	+	3	2	TCF12	55330907	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.631000	0.61304	2.868000	0.98415	0.557000	0.71058	CAC		0.448	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
AQP9	366	broad.mit.edu	37	15	58476317	58476317	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:58476317C>T	ENST00000219919.4	+	6	1241	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L226F|AQP9_ENST00000536493.1_Missense_Mutation_p.L291F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	291					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAAATATGAACTCAGTGTCAT	0.438																																						uc002aez.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(871-873)Ctc>Ttc		Homo sapiens aquaporin 9 (AQP9), mRNA.							113.0	105.0	108.0					15																	58476317		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58476317C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.871C>T	15.37:g.58476317C>T	ENSP00000219919:p.Leu291Phe					ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	p.L291F	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	5	1228	+			291					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.871C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708333	0.48517	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.85013	-1.93;-1.93	5.84	3.87	0.44632	.	0.205097	0.33834	N	0.004510	T	0.69860	0.3158	N	0.08118	0	0.49582	D	0.999806	B	0.18013	0.025	B	0.18561	0.022	T	0.65886	-0.6059	10	0.42905	T	0.14	.	10.2721	0.43489	0.1348:0.7934:0.0:0.0718	.	291	O43315	AQP9_HUMAN	F	291	ENSP00000219919:L291F;ENSP00000441390:L291F	ENSP00000219919:L291F	L	+	1	0	AQP9	56263609	1.000000	0.71417	0.979000	0.43373	0.887000	0.51463	0.848000	0.27710	1.450000	0.47717	0.655000	0.94253	CTC		0.438	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980	
BNC1	646	broad.mit.edu	37	15	83933192	83933192	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:83933192C>G	ENST00000345382.2	-	4	896	c.811G>C	c.(811-813)Gac>Cac	p.D271H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.D264H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	271					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGACTTTGGTCATGACCCTGC	0.488																																						uc002bjt.1																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(811-813)Gac>Cac		Homo sapiens basonuclin 1 (BNC1), mRNA.							96.0	93.0	94.0					15																	83933192		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83933192C>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.811G>C	15.37:g.83933192C>G	ENSP00000307041:p.Asp271His					BNC1_uc010uos.1_Missense_Mutation_p.D259H	p.D271H	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	899	-			271					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.811G>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802412	0.50315	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03272	3.99	5.51	5.51	0.81932	.	0.305128	0.35407	N	0.003225	T	0.15739	0.0379	L	0.54323	1.7	0.44937	D	0.997956	P;D	0.89917	0.913;1.0	P;D	0.87578	0.568;0.998	T	0.00540	-1.1681	10	0.38643	T	0.18	-30.2225	19.4315	0.94772	0.0:1.0:0.0:0.0	.	264;271	F5GY04;Q01954	.;BNC1_HUMAN	H	271;264	ENSP00000307041:D271H	ENSP00000307041:D271H	D	-	1	0	BNC1	81724196	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.092000	0.64511	2.600000	0.87896	0.655000	0.94253	GAC		0.488	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
CHSY1	22856	broad.mit.edu	37	15	101775678	101775678	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:101775678G>T	ENST00000254190.3	-	2	900	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCGGGTAGGAGTCGTCCAC	0.483																																						uc021sxt.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(424-426)tCc>tAc		Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.							115.0	112.0	113.0					15																	101775678		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775678G>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.425C>A	15.37:g.101775678G>T	ENSP00000254190:p.Ser142Tyr						p.S142Y	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	901	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		142					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.425C>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826034	0.90955	.	.	ENSG00000131873	ENST00000254190	T	0.39229	1.09	5.21	5.21	0.72293	.	0.164709	0.41938	D	0.000784	T	0.56601	0.1996	L	0.54908	1.71	0.80722	D	1	D	0.60575	0.988	P	0.56751	0.805	T	0.59182	-0.7502	10	0.62326	D	0.03	-31.7926	18.7824	0.91939	0.0:0.0:1.0:0.0	.	142	Q86X52	CHSS1_HUMAN	Y	142	ENSP00000254190:S142Y	ENSP00000254190:S142Y	S	-	2	0	CHSY1	99593201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.434000	0.82447	0.655000	0.94253	TCC		0.483	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
PTX4	390667	broad.mit.edu	37	16	1537375	1537375	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:1537375A>T	ENST00000447419.2	-	2	763	c.738T>A	c.(736-738)agT>agA	p.S246R	PTX4_ENST00000293922.1_Missense_Mutation_p.S241R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	246						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTCCCACTGAGTACCC	0.677																																						uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(721-723)agT>agA		Homo sapiens pentraxin 4, long (PTX4), mRNA.							39.0	44.0	42.0					16																	1537375		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537375A>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.738T>A	16.37:g.1537375A>T	ENSP00000445277:p.Ser246Arg						p.S241R	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	723	-			246						Missense_Mutation	SNP	ENST00000447419.2	37	c.723T>A		.	.	.	.	.	.	.	.	.	.	A	1.630	-0.519174	0.04171	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05258	3.62;3.47	2.42	-3.68	0.04463	.	3.536760	0.02020	U	0.047713	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40001	-0.9586	10	0.44086	T	0.13	.	3.6322	0.08135	0.3179:0.0:0.4581:0.224	.	241	Q96A99-2	.	R	246;241	ENSP00000445277:S246R;ENSP00000293922:S241R	ENSP00000293922:S241R	S	-	3	2	PTX4	1477376	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.345000	0.02637	-0.759000	0.04684	-0.274000	0.10170	AGT		0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
PKD1	5310	broad.mit.edu	37	16	2160687	2160687	+	Missense_Mutation	SNP	C	C	T	rs559596651		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:2160687C>T	ENST00000262304.4	-	15	4689	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1494H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1494	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGGGGCGCCCACGGCC	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		16904	0.001		0.0	False		,,,				2504	0.0					uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4480-4482)cGc>cAc		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							15.0	19.0	17.0					16																	2160687		2157	4268	6425	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160687C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4481G>A	16.37:g.2160687C>T	ENSP00000262304:p.Arg1494His					TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1494H	p.R1494H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			14	4690	-			1494			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4481G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	1.601	-0.526545	0.04141	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62105	0.05;0.05	5.5	-5.23	0.02798	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.785050	0.02334	N	0.074181	T	0.37489	0.1005	N	0.04297	-0.235	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.11329	0.005;0.006	T	0.25813	-1.0121	10	0.30854	T	0.27	.	8.7671	0.34708	0.0:0.2196:0.2771:0.5032	.	1494;1494	P98161-3;P98161	.;PKD1_HUMAN	H	1494;1494;1175	ENSP00000262304:R1494H;ENSP00000399501:R1494H	ENSP00000262304:R1494H	R	-	2	0	PKD1	2100688	0.057000	0.20700	0.007000	0.13788	0.004000	0.04260	0.207000	0.17395	-1.391000	0.02085	-0.399000	0.06403	CGC		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
ADCY7	113	broad.mit.edu	37	16	50349362	50349362	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:50349362G>T	ENST00000394697.2	+	26	3529	c.3189G>T	c.(3187-3189)agG>agT	p.R1063S	ADCY7_ENST00000254235.3_Missense_Mutation_p.R1063S			P51828	ADCY7_HUMAN	adenylate cyclase 7	1063					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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGAGCTGAGGACTTACTTTG	0.572																																						uc002egd.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(3187-3189)agG>agT		Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	Bromocriptine(DB01200)						105.0	99.0	101.0					16																	50349362		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50349362G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.3189G>T	16.37:g.50349362G>T	ENSP00000378187:p.Arg1063Ser						p.R1063S	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	24	3457	+		all_cancers(37;0.0127)	1063					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.3189G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424218	0.25639	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29142	1.58;1.58	4.93	1.83	0.25207	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.45126	U	0.000387	T	0.30293	0.0760	L	0.35854	1.095	0.80722	D	1	B	0.27229	0.172	B	0.43155	0.41	T	0.03060	-1.1077	10	0.08599	T	0.76	.	13.123	0.59338	0.2014:0.0:0.7986:0.0	.	1063	P51828	ADCY7_HUMAN	S	1063	ENSP00000378187:R1063S;ENSP00000254235:R1063S	ENSP00000254235:R1063S	R	+	3	2	ADCY7	48906863	1.000000	0.71417	0.985000	0.45067	0.470000	0.32858	2.382000	0.44345	0.285000	0.22329	-1.598000	0.00824	AGG		0.572	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
CES5A	221223	broad.mit.edu	37	16	55907825	55907825	+	Silent	SNP	C	C	T	rs113880150	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:55907825C>T	ENST00000290567.9	-	2	319	c.198G>A	c.(196-198)ccG>ccA	p.P66P	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Silent_p.P66P|CES5A_ENST00000319165.9_Silent_p.P66P|CES5A_ENST00000521992.1_Silent_p.P95P|CES5A_ENST00000518005.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	66						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATCCCAGCGGGGGAGCAG	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		19052	0.004		0.0	False		,,,				2504	0.0					uc021tir.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(283-285)ccG>ccA		Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.							76.0	70.0	72.0					16																	55907825		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907825C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.198G>A	16.37:g.55907825C>T						CES5A_uc002eip.2_Silent_p.P66P|CES5A_uc002eio.2_Silent_p.P66P|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	p.P95P	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN			2	431	-			66					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.285G>A	CCDS45490.1																																																																																				0.597	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
E2F4	1874	broad.mit.edu	37	16	67226947	67226947	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:67226947C>G	ENST00000379378.3	+	3	340	c.281C>G	c.(280-282)gCt>gGt	p.A94G	EXOC3L1_ENST00000562887.1_5'Flank|E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000314586.6_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	94	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CGGGAGATTGCTGACAAACTG	0.612																																						uc002erz.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(280-282)gCt>gGt		Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.							34.0	29.0	31.0					16																	67226947		2189	4290	6479	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67226947C>G	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.281C>G	16.37:g.67226947C>G	ENSP00000368686:p.Ala94Gly					EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	p.A94G	NM_001950	NP_001941	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	2	344	+		Ovarian(137;0.0563)	94			Dimerization (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.281C>G	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028159	0.35797	.	.	ENSG00000205250	ENST00000379378	D	0.84298	-1.83	4.43	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	N	0.24115	0.695	0.58432	D	0.999997	P	0.47762	0.9	P	0.46237	0.508	T	0.71800	-0.4483	10	0.19590	T	0.45	-13.5363	11.1757	0.48598	0.0:0.9087:0.0:0.0913	.	94	Q16254	E2F4_HUMAN	G	94	ENSP00000368686:A94G	ENSP00000368686:A94G	A	+	2	0	E2F4	65784448	1.000000	0.71417	0.042000	0.18584	0.975000	0.68041	5.879000	0.69690	1.084000	0.41184	0.467000	0.42956	GCT		0.612	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950	
C17orf100	388327	broad.mit.edu	37	17	6555309	6555309	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:6555309C>A	ENST00000391428.2	+	1	339	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	MED31_ENST00000574128.1_5'Flank|CTC-281F24.1_ENST00000576138.1_RNA|MED31_ENST00000575197.1_5'Flank|MED31_ENST00000225728.3_5'Flank	NM_001105520.1	NP_001098990.1	A8MU93	CQ100_HUMAN	chromosome 17 open reading frame 100	26																	GTCCACGGTCCGCGTGGAGAC	0.736																																						uc010clp.1																			0											c.(76-78)Cgc>Agc		Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.							5.0	7.0	7.0					17																	6555309		1869	4010	5879	SO:0001583	missense	388327							g.chr17:6555309C>A	BC028174, BC038956, BC052606	CCDS73952.1	17p13.2	2014-04-10			ENSG00000212734	ENSG00000256806			34494	protein-coding gene	gene with protein product							Standard	NM_001105520		Approved	LOC388327	uc010clp.1	A8MU93	OTTHUMG00000188340	ENST00000391428.2:c.76C>A	17.37:g.6555309C>A	ENSP00000375247:p.Arg26Ser					MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	p.R26S	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN			0	251	+			26						Missense_Mutation	SNP	ENST00000391428.2	37	c.76C>A		.	.	.	.	.	.	.	.	.	.	C	11.63	1.696143	0.30052	.	.	ENSG00000212734	ENST00000391428	.	.	.	4.27	0.807	0.18714	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.21360	0.034	T	0.19289	-1.0310	8	0.45353	T	0.12	-8.0626	4.6248	0.12472	0.3845:0.509:0.0:0.1065	.	26	A8MU93	CQ100_HUMAN	S	26	.	ENSP00000375247:R26S	R	+	1	0	C17orf100	6496033	0.423000	0.25482	0.224000	0.23877	0.029000	0.11900	0.222000	0.17699	0.509000	0.28195	-0.126000	0.14955	CGC		0.736	C17orf100-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255575.2	NM_001105520	
SLFN13	146857	broad.mit.edu	37	17	33771684	33771684	+	Missense_Mutation	SNP	C	C	T	rs148604980	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:33771684C>T	ENST00000285013.6	-	3	1291	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SLFN13_ENST00000360502.2_Missense_Mutation_p.R21H|SLFN13_ENST00000533791.1_Missense_Mutation_p.R339H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R339H|SLFN13_ENST00000534689.1_Missense_Mutation_p.R21H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R339H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	339						intracellular (GO:0005622)	ATP binding (GO:0005524)			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)		TGTCAAGGGGCGGATGTACTT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		19542	0.0		0.0	False		,,,				2504	0.002					uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1015-1017)cGc>cAc		Homo sapiens schlafen family member 13 (SLFN13), mRNA.		C	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	134.0	122.0	126.0		1016	-0.5	0.0	17	dbSNP_134	126	0,8600		0,0,4300	no	missense	SLFN13	NM_144682.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	339/898	33771684	1,13005	2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33771684C>T	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.1016G>A	17.37:g.33771684C>T	ENSP00000285013:p.Arg339His					SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H	p.R339H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	0	1346	-			339					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1016G>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	6.330	0.428961	0.11987	2.27E-4	0.0	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.59502	0.26;3.92;0.26;0.26;3.92;2.24	3.53	-0.537	0.11872	.	1.067590	0.07395	N	0.889801	T	0.39963	0.1098	L	0.38175	1.15	0.09310	N	1	P;P	0.48407	0.592;0.91	B;B	0.38921	0.244;0.285	T	0.31475	-0.9942	10	0.39692	T	0.17	.	3.0178	0.06065	0.0:0.3952:0.2276:0.3772	.	21;339	Q68D06-2;Q68D06	.;SLN13_HUMAN	H	339;21;339;339;21;8	ENSP00000285013:R339H;ENSP00000353692:R21H;ENSP00000434439:R339H;ENSP00000444016:R339H;ENSP00000435442:R21H;ENSP00000435328:R8H	ENSP00000285013:R339H	R	-	2	0	SLFN13	30795797	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.055000	0.01397	0.068000	0.16574	0.508000	0.49915	CGC		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
IKZF3	22806	broad.mit.edu	37	17	37985642	37985642	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:37985642C>G	ENST00000346872.3	-	3	222	c.161G>C	c.(160-162)gGa>gCa	p.G54A	IKZF3_ENST00000350532.3_Missense_Mutation_p.G54A|IKZF3_ENST00000377958.2_Missense_Mutation_p.G54A|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.G54A|IKZF3_ENST00000351680.3_Missense_Mutation_p.G54A|IKZF3_ENST00000377952.2_Missense_Mutation_p.G54A|IKZF3_ENST00000439016.2_Missense_Mutation_p.G54A|IKZF3_ENST00000467757.1_Missense_Mutation_p.G54A|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.G54A|IKZF3_ENST00000394189.2_Missense_Mutation_p.G54A|IKZF3_ENST00000377945.3_Missense_Mutation_p.G54A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	54					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCTCACCTCCTATGTCTTC	0.428																																						uc002hsu.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(160-162)gGa>gCa		Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.							176.0	141.0	153.0					17																	37985642		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37985642C>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.161G>C	17.37:g.37985642C>G	ENSP00000344544:p.Gly54Ala					IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.G54A|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.G54A|IKZF3_uc010cwf.3_Missense_Mutation_p.G54A|IKZF3_uc010cwg.3_Missense_Mutation_p.G54A|IKZF3_uc002hsw.3_Missense_Mutation_p.G54A|IKZF3_uc002hsx.3_Missense_Mutation_p.G54A|IKZF3_uc002hsy.3_Missense_Mutation_p.G54A|IKZF3_uc002hsz.3_Missense_Mutation_p.G54A|IKZF3_uc002hta.3_Missense_Mutation_p.G54A|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G54A|IKZF3_uc002htc.3_5'UTR	p.G54A	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	223	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		54					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.161G>C	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	8.409	0.843699	0.16963	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.08546	3.43;3.23;3.12;3.19;3.08;3.6;3.42;3.45;3.35;4.34	5.42	4.45	0.53987	.	0.138036	0.32430	N	0.006101	T	0.11879	0.0289	N	0.12746	0.255	0.21950	N	0.999457	D;B;B;B;B;B;B;B;B;B;B	0.67145	0.996;0.44;0.44;0.44;0.44;0.007;0.234;0.002;0.001;0.007;0.004	D;B;B;B;B;B;B;B;B;B;B	0.77557	0.99;0.337;0.337;0.337;0.337;0.007;0.198;0.005;0.004;0.007;0.003	T	0.19877	-1.0292	10	0.30854	T	0.27	-15.5139	10.1325	0.42687	0.0:0.9074:0.0:0.0926	.	54;54;54;54;54;54;54;54;54;54;54	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9	.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	A	54	ENSP00000344544:G54A;ENSP00000367180:G54A;ENSP00000377741:G54A;ENSP00000367179:G54A;ENSP00000367194:G54A;ENSP00000367188:G54A;ENSP00000345622:G54A;ENSP00000341977:G54A;ENSP00000344471:G54A;ENSP00000420463:G54A	ENSP00000341977:G54A	G	-	2	0	IKZF3	35239168	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	2.522000	0.45572	1.286000	0.44565	0.563000	0.77884	GGA		0.428	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
NAGS	162417	broad.mit.edu	37	17	42085912	42085912	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:42085912C>A	ENST00000293404.3	+	7	1666	c.1548C>A	c.(1546-1548)aaC>aaA	p.N516K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	516	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTTGGTCAACCACGCCAAGG	0.557																																						uc010czn.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1570-1572)aaC>aaA		Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	L-Glutamic Acid(DB00142)						186.0	175.0	179.0					17																	42085912		2203	4300	6503	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42085912C>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1548C>A	17.37:g.42085912C>A	ENSP00000293404:p.Asn516Lys					NAGS_uc002ies.3_Missense_Mutation_p.N516K|NAGS_uc002iet.3_Missense_Mutation_p.N140K	p.N524K	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1572	+		Breast(137;0.00536)|Prostate(33;0.0724)	516			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1572C>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977088	0.53720	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.93659	-3.26	5.33	4.35	0.52113	GCN5-related N-acetyltransferase (GNAT) domain (1);Domain of unknown function DUF619 (1);	0.256146	0.37906	N	0.001884	D	0.91236	0.7238	N	0.22421	0.69	0.37470	D	0.91556	D;D	0.61080	0.989;0.989	P;P	0.60117	0.869;0.869	D	0.88456	0.3052	10	0.13470	T	0.59	-40.8669	10.918	0.47148	0.0:0.9062:0.0:0.0938	.	350;516	Q2NKP2;Q8N159	.;NAGS_HUMAN	K	350;516	ENSP00000293404:N516K	ENSP00000293404:N516K	N	+	3	2	NAGS	39441438	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.516000	0.35856	1.205000	0.43262	0.462000	0.41574	AAC		0.557	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006	
SEPT4	5414	broad.mit.edu	37	17	56603127	56603127	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:56603127C>T	ENST00000317268.3	-	4	643	c.467G>A	c.(466-468)gGc>gAc	p.G156D	SEPT4_ENST00000579371.1_Missense_Mutation_p.G57D|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.G137D|SEPT4_ENST00000426861.1_Missense_Mutation_p.G137D|SEPT4_ENST00000412945.3_Missense_Mutation_p.G148D|SEPT4_ENST00000457347.2_Missense_Mutation_p.G171D|SEPT4_ENST00000580844.1_Missense_Mutation_p.G57D|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.G137D|SEPT4_ENST00000580809.1_Missense_Mutation_p.G38D|SEPT4_ENST00000583114.1_Missense_Mutation_p.G9D|SEPT4_ENST00000580791.1_5'Flank	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	156	Septin-type G.			G -> D (in Ref. 7; BAG37789). {ECO:0000305}.	apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGATTTGCCCAGGCCAGA	0.502																																						uc010wnx.2																			0		p.R171R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(511-513)gGc>gAc		Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.							88.0	77.0	80.0					17																	56603127		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56603127C>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.467G>A	17.37:g.56603127C>T	ENSP00000321674:p.Gly156Asp					SEPT4_uc002iwk.2_Missense_Mutation_p.G9D|SEPT4_uc010wnw.2_Missense_Mutation_p.G9D|SEPT4_uc002iwl.2_Missense_Mutation_p.G9D|SEPT4_uc002iwm.2_Missense_Mutation_p.G156D|SEPT4_uc002iwo.2_Missense_Mutation_p.G137D|SEPT4_uc002iwp.2_Missense_Mutation_p.G137D|SEPT4_uc010wny.2_Missense_Mutation_p.G148D|SEPT4_uc010dcy.2_Missense_Mutation_p.G38D	p.G171D	NM_080416	NP_536341	O43236	SEPT4_HUMAN			4	657	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		156					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.512G>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363568	0.41902	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	4.79	4.79	0.61399	.	0.169261	0.52532	D	0.000076	D	0.98899	0.9627	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.996;1.0;1.0;0.999;0.998;0.999	D;P;D;D;D;D;D	0.81914	0.979;0.87;0.993;0.995;0.979;0.982;0.987	D	0.99053	1.0828	10	0.87932	D	0	.	15.7066	0.77588	0.0:1.0:0.0:0.0	.	148;171;9;137;137;9;156	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	D	148;170;137;156;137;137	ENSP00000414779:G148D;ENSP00000321071:G137D;ENSP00000321674:G156D;ENSP00000376801:G137D;ENSP00000402348:G137D	ENSP00000321071:G137D	G	-	2	0	SEPT4	53958126	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.651000	0.83577	2.649000	0.89929	0.655000	0.94253	GGC		0.502	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
CD7	924	broad.mit.edu	37	17	80274632	80274632	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80274632C>T	ENST00000312648.3	-	2	414	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CD7_ENST00000584284.1_Missense_Mutation_p.R103H|CD7_ENST00000578509.1_Missense_Mutation_p.R3H|CD7_ENST00000583376.1_Missense_Mutation_p.R3H	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	103	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGCTGCAGGCGGTGCATGGT	0.612																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(307-309)cGc>cAc		Homo sapiens CD7 molecule (CD7), mRNA.							133.0	123.0	126.0					17																	80274632		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274632C>T	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.308G>A	17.37:g.80274632C>T	ENSP00000312027:p.Arg103His					CD7_uc010din.3_Missense_Mutation_p.R103H|CD7_uc010wvk.1_Missense_Mutation_p.R103H	p.R103H	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		1	417	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		103			Ig-like.			Missense_Mutation	SNP	ENST00000312648.3	37	c.308G>A	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488338	0.12641	.	.	ENSG00000173762	ENST00000312648	T	0.65178	-0.14	3.8	-7.59	0.01308	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.011830	0.02368	N	0.077554	T	0.46268	0.1384	L	0.39245	1.2	0.09310	N	1	B;B;B	0.24882	0.113;0.113;0.113	B;B;B	0.15870	0.014;0.013;0.013	T	0.28681	-1.0036	10	0.30078	T	0.28	-4.5069	5.1857	0.15184	0.0963:0.4764:0.1951:0.2322	.	103;103;103	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	H	103	ENSP00000312027:R103H	ENSP00000312027:R103H	R	-	2	0	CD7	77867921	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-5.730000	0.00102	-3.662000	0.00124	-1.225000	0.01585	CGC		0.612	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137	
B3GNTL1	146712	broad.mit.edu	37	17	80915279	80915279	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80915279C>G	ENST00000320865.3	-	9	830	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.G162R|B3GNTL1_ENST00000571954.1_5'Flank	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	273							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCCGGCGCCCCTGCTTGCCA	0.692																																						uc002kgg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(817-819)Ggg>Cgg		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.							22.0	24.0	23.0					17																	80915279		2201	4298	6499	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80915279C>G	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.817G>C	17.37:g.80915279C>G	ENSP00000319979:p.Gly273Arg					B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_Non-coding_Transcript	p.G273R	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		8	831	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	273					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.817G>C	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839939	0.91117	.	.	ENSG00000175711	ENST00000320865	T	0.57273	0.41	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82198	-0.0576	9	.	.	.	-31.3549	14.8429	0.70237	0.0:1.0:0.0:0.0	.	273	Q67FW5	B3GNL_HUMAN	R	273	ENSP00000319979:G273R	.	G	-	1	0	B3GNTL1	78508568	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.479000	0.73600	2.163000	0.67991	0.591000	0.81541	GGG		0.692	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905	
SMCHD1	23347	broad.mit.edu	37	18	2700592	2700592	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:2700592A>T	ENST00000320876.6	+	11	1736	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R466S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	466					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGCAGCTAGAGGGAAAAGGC	0.303																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1396-1398)agA>agT		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							142.0	129.0	133.0					18																	2700592		1838	4089	5927	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700592A>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.1398A>T	18.37:g.2700592A>T	ENSP00000326603:p.Arg466Ser					SMCHD1_uc002klk.4_5'Flank	p.R466S	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			10	1587	+			466					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1398A>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691474	0.68271	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25414	1.8;1.81	5.5	5.5	0.81552	.	.	.	.	.	T	0.40498	0.1119	L	0.40543	1.245	0.33566	D	0.597989	D	0.76494	0.999	D	0.78314	0.991	T	0.55055	-0.8200	9	0.87932	D	0	.	10.7984	0.46474	0.8588:0.0:0.0:0.1412	.	466	A6NHR9	SMHD1_HUMAN	S	466	ENSP00000326603:R466S;ENSP00000261598:R466S	ENSP00000261598:R466S	R	+	3	2	SMCHD1	2690592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.184000	0.42575	2.084000	0.62774	0.533000	0.62120	AGA		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
C18orf8	29919	broad.mit.edu	37	18	21089223	21089223	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:21089223C>G	ENST00000269221.3	+	5	498	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	C18orf8_ENST00000590868.1_Intron	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	130						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAACAGATCAAGGAATCGA	0.294																																						uc021uie.1																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(388-390)Caa>Gaa		Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.							63.0	62.0	62.0					18																	21089223		2203	4297	6500	SO:0001583	missense	29919							g.chr18:21089223C>G	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.388C>G	18.37:g.21089223C>G	ENSP00000269221:p.Gln130Glu					C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron	p.Q130E	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			4	509	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		130					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.388C>G	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919502	0.52653	.	.	ENSG00000141452	ENST00000269221	T	0.10573	2.86	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049451	0.85682	D	0.000000	T	0.12050	0.0293	M	0.63428	1.95	0.80722	D	1	B	0.30406	0.278	B	0.22386	0.039	T	0.08576	-1.0715	10	0.02654	T	1	-19.9844	18.5469	0.91050	0.0:1.0:0.0:0.0	.	130	Q96DM3	MIC1_HUMAN	E	130	ENSP00000269221:Q130E	ENSP00000269221:Q130E	Q	+	1	0	C18orf8	19343221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.258000	0.78371	2.894000	0.99253	0.655000	0.94253	CAA		0.294	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
DSG4	147409	broad.mit.edu	37	18	28968938	28968938	+	Silent	SNP	G	G	A	rs201177179		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:28968938G>A	ENST00000308128.4	+	5	609	c.474G>A	c.(472-474)tcG>tcA	p.S158S	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Silent_p.S158S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGTCTTTTCGCAAAGTGTAT	0.413																																						uc002kwr.2																			0		p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(472-474)tcG>tcA		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							103.0	98.0	100.0					18																	28968938		2203	4299	6502	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968938G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.474G>A	18.37:g.28968938G>A						DSG4_uc002kwq.2_Silent_p.S158S	p.S158S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	609	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.474G>A	CCDS11897.1																																																																																				0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
NOL4	8715	broad.mit.edu	37	18	31432915	31432915	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:31432915G>A	ENST00000261592.5	-	11	2105	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	NOL4_ENST00000538587.1_Missense_Mutation_p.P529L|NOL4_ENST00000535384.1_Missense_Mutation_p.P318L|NOL4_ENST00000535475.1_Missense_Mutation_p.P384L|NOL4_ENST00000269185.4_Missense_Mutation_p.P387L|NOL4_ENST00000589544.1_Missense_Mutation_p.P501L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	603						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GATTTCAGTTGGACTCAGCTG	0.448																																						uc010dmi.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1807-1809)cCa>cTa		Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.							110.0	97.0	101.0					18																	31432915		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432915G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1808C>T	18.37:g.31432915G>A	ENSP00000261592:p.Pro603Leu					NOL4_uc010xbs.2_Missense_Mutation_p.P318L|NOL4_uc002kxr.4_Missense_Mutation_p.P375L|NOL4_uc010xbt.2_Missense_Mutation_p.P529L|NOL4_uc010dmh.3_Missense_Mutation_p.P465L|NOL4_uc010xbu.2_Missense_Mutation_p.P539L|NOL4_uc002kxt.4_Missense_Mutation_p.P501L	p.P603L	NM_003787	NP_001185478	O94818	NOL4_HUMAN			10	2106	-			603					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1808C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036866	0.54896	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.79112	0.4391	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;1.0;0.993;0.986;0.992;0.995	P;D;D;P;D;D	0.91635	0.775;0.999;0.976;0.775;0.985;0.961	T	0.79135	-0.1928	9	0.87932	D	0	-11.8039	20.4082	0.99013	0.0:0.0:1.0:0.0	.	318;529;603;318;501;384	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	L	603;387;318;384;529	.	ENSP00000261592:P603L	P	-	2	0	NOL4	29686913	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.975000	0.56859	2.814000	0.96858	0.655000	0.94253	CCA		0.448	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	
MYO5B	4645	broad.mit.edu	37	18	47405384	47405384	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:47405384G>T	ENST00000285039.7	-	24	3506	c.3207C>A	c.(3205-3207)aaC>aaA	p.N1069K	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.N210K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1069					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)			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)		CCTTCACAAGGTTCTGGTACC	0.488																																						uc002leb.2																			0				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						c.(3205-3207)aaC>aaA		Homo sapiens myosin VB (MYO5B), mRNA.							103.0	105.0	104.0					18																	47405384		1917	4121	6038	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47405384G>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.3207C>A	18.37:g.47405384G>T	ENSP00000285039:p.Asn1069Lys					MYO5B_uc002lea.2_Missense_Mutation_p.N210K	p.N1069K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	23	3495	-			1069					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3207C>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592032	0.46214	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.21734	1.99;1.99	5.28	3.48	0.39840	.	0.104396	0.64402	D	0.000006	T	0.22475	0.0542	L	0.47716	1.5	0.51767	D	0.999935	B;D	0.59357	0.057;0.985	B;P	0.52672	0.032;0.706	T	0.10847	-1.0612	10	0.07325	T	0.83	.	8.4548	0.32893	0.2384:0.0:0.7616:0.0	.	1069;210	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	K	1069;210	ENSP00000285039:N1069K;ENSP00000315531:N210K	ENSP00000285039:N1069K	N	-	3	2	MYO5B	45659382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.078000	0.30754	1.230000	0.43646	0.563000	0.77884	AAC		0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
CCBE1	147372	broad.mit.edu	37	18	57105364	57105364	+	Silent	SNP	C	C	T	rs144169027	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:57105364C>T	ENST00000439986.4	-	10	1003	c.966G>A	c.(964-966)gcG>gcA	p.A322A	CCBE1_ENST00000398179.2_Silent_p.A51A	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	322	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGGGCCCAGGCGCTCCTCTCT	0.507																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(964-966)gcG>gcA		Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.		T		0,4406		0,0,2203	49.0	45.0	47.0		966	-11.2	0.4	18	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	CCBE1	NM_133459.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		322/407	57105364	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57105364C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.966G>A	18.37:g.57105364C>T						CCBE1_uc010dpq.3_Silent_p.A51A|CCBE1_uc002lia.3_Silent_p.A175A	p.A322A	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			9	1036	-		Colorectal(73;0.175)	322			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	c.966G>A	CCDS32838.1																																																																																				0.507	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
TNFRSF11A	8792	broad.mit.edu	37	18	60033975	60033975	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:60033975C>T	ENST00000586569.1	+	8	803	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	255					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGGCTTGTGGCCGCCTAAGTG	0.403																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(763-765)ggC>ggT		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							188.0	179.0	182.0					18																	60033975		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60033975C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.765C>T	18.37:g.60033975C>T						TNFRSF11A_uc010dpv.3_Intron	p.G255G	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			7	803	+		Colorectal(73;0.188)	255					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.765C>T	CCDS11980.1																																																																																				0.403	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
RTTN	25914	broad.mit.edu	37	18	67718720	67718720	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:67718720G>T	ENST00000255674.6	-	39	5536	c.5250C>A	c.(5248-5250)ctC>ctA	p.L1750L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1750					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCCTCAGGAGCATGGCCA	0.408																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5248-5250)ctC>ctA		Homo sapiens rotatin (RTTN), mRNA.							90.0	82.0	84.0					18																	67718720		1908	4140	6048	SO:0001819	synonymous_variant	25914						binding	g.chr18:67718720G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5250C>A	18.37:g.67718720G>T						RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	p.L1750L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			38	5318	-		Esophageal squamous(42;0.129)	1750					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5250C>A	CCDS42443.1																																																																																				0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
SALL3	27164	broad.mit.edu	37	18	76757007	76757007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:76757007delC	ENST00000537592.2	+	3	3588	c.3588delC	c.(3586-3588)ttcfs	p.F1196fs	SALL3_ENST00000536229.3_Frame_Shift_Del_p.F991fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.F1124fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1196					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGAAATGTTCCAGAAGGACC	0.577																																						uc002lmt.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3586-3588)ttcfs		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							62.0	63.0	63.0					18																	76757007		2203	4300	6503	SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757007delC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3588delC	18.37:g.76757007delC	ENSP00000441823:p.Phe1196fs					SALL3_uc010dra.3_Frame_Shift_Del_p.F731fs	p.F1196fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3588	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1196					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.3588delC	CCDS12013.1																																																																																				0.577	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
TCF3	6929	broad.mit.edu	37	19	1619469	1619469	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:1619469C>G	ENST00000262965.5	-	15	1516	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	TCF3_ENST00000395423.3_Missense_Mutation_p.S340T|TCF3_ENST00000588136.1_Missense_Mutation_p.S391T|TCF3_ENST00000344749.5_Missense_Mutation_p.S391T|TCF3_ENST00000453954.2_Missense_Mutation_p.S307T|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TTCTATCTTACTCTGCTGCAG	0.682			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	uc002ltr.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1171-1173)aGt>aCt		Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.							30.0	29.0	30.0					19																	1619469		2177	4238	6415	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1619469C>G	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1172G>C	19.37:g.1619469C>G	ENSP00000262965:p.Ser391Thr					TCF3_uc002lto.3_Splice_Site_p.S152_splice|TCF3_uc002ltt.4_Missense_Mutation_p.S391T|TCF3_uc002ltq.3_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	p.S391T	NM_003200	NP_003191	P15923	TFE2_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)	14	1241	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	391			Leucine-zipper.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1172G>C	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753384	0.31046	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.59502	0.26;0.26;0.26	4.6	-4.83	0.03161	.	0.469266	0.25138	N	0.032860	T	0.36054	0.0953	L	0.27053	0.805	0.30434	N	0.776869	B;B;B;B	0.14438	0.005;0.002;0.009;0.01	B;B;B;B	0.15870	0.014;0.002;0.009;0.014	T	0.10337	-1.0634	10	0.62326	D	0.03	-4.0871	8.5094	0.33208	0.0:0.1789:0.1195:0.7016	.	391;391;340;328	P15923-2;P15923;Q2TB39;Q6PJU3	.;TFE2_HUMAN;.;.	T	391;391;391;340	ENSP00000262965:S391T;ENSP00000344375:S391T;ENSP00000378813:S340T	ENSP00000262965:S391T	S	-	2	0	TCF3	1570469	0.012000	0.17670	0.267000	0.24556	0.435000	0.31806	-1.108000	0.03313	-0.730000	0.04869	-0.379000	0.06801	AGT		0.682	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
RFX2	5990	broad.mit.edu	37	19	6007158	6007158	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:6007158C>T	ENST00000303657.5	-	12	1416	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	RFX2_ENST00000592546.1_Missense_Mutation_p.A398T|RFX2_ENST00000359161.3_Missense_Mutation_p.A423T|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGGACGGCGCCCTCGGGG	0.662																																					Colon(38;171 817 19800 47433 48051)	uc002meb.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1267-1269)Gcc>Acc		Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.							66.0	63.0	64.0					19																	6007158		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6007158C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1267G>A	19.37:g.6007158C>T	ENSP00000306335:p.Ala423Thr					RFX2_uc002mec.3_Missense_Mutation_p.A398T|AX748210_uc002med.1_3'UTR	p.A423T	NM_000635	NP_000626	P48378	RFX2_HUMAN			11	1536	-			423					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1267G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316627	0.23908	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.63744	-0.06	4.01	-0.787	0.10943	.	0.763188	0.12730	N	0.443974	T	0.35158	0.0922	N	0.05383	-0.06	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.17228	-1.0376	10	0.46703	T	0.11	-22.179	5.2304	0.15418	0.0:0.3693:0.1519:0.4788	.	398;423	P48378-2;P48378	.;RFX2_HUMAN	T	423;398;210	ENSP00000306335:A423T	ENSP00000306335:A423T	A	-	1	0	RFX2	5958158	0.000000	0.05858	0.052000	0.19188	0.258000	0.26162	0.056000	0.14256	-0.015000	0.14150	-0.140000	0.14226	GCC		0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635	
MAN2B1	4125	broad.mit.edu	37	19	12757445	12757445	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:12757445C>A	ENST00000456935.2	-	24	3065	c.3025G>T	c.(3025-3027)Gtg>Ttg	p.V1009L	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.G195V|MAN2B1_ENST00000221363.4_Missense_Mutation_p.V1008L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	1009					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACCATCCACCTCCTTCCAT	0.602																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(3025-3027)Gtg>Ttg		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							145.0	114.0	125.0					19																	12757445		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12757445C>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.3025G>T	19.37:g.12757445C>A	ENSP00000395473:p.Val1009Leu					MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	p.V1009L	NM_000528	NP_000519	O00754	MA2B1_HUMAN			23	3101	-			1009					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.3025G>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	4.584	0.108445	0.08780	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.81330	-1.48;-1.48	5.19	-4.21	0.03812	.	3.072470	0.01190	N	0.007319	T	0.56093	0.1962	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50841	-0.8780	10	0.16420	T	0.52	0.5344	5.6095	0.17398	0.0:0.2617:0.2896:0.4486	.	1008;1009	G5E928;O00754	.;MA2B1_HUMAN	L	1009;948;1008	ENSP00000395473:V1009L;ENSP00000221363:V1008L	ENSP00000221363:V1008L	V	-	1	0	MAN2B1	12618445	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.248000	0.08854	-0.840000	0.04206	-0.345000	0.07892	GTG		0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
DCAF15	90379	broad.mit.edu	37	19	14065391	14065391	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:14065391G>A	ENST00000254337.6	+	3	305	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538517.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	95					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTACACCAGCAGCAGTGGG	0.582																																						uc002mxt.3																			0		p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(283-285)aGc>aAc		Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.							112.0	97.0	102.0					19																	14065391		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14065391G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.284G>A	19.37:g.14065391G>A	ENSP00000254337:p.Ser95Asn					PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	p.S95N	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			2	290	+			95					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.284G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194190	0.58017	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	U	0.000000	T	0.63733	0.2536	L	0.33485	1.01	0.52501	D	0.999954	D	0.63880	0.993	D	0.63033	0.91	T	0.60193	-0.7311	9	0.27082	T	0.32	-19.6857	16.8766	0.86053	0.0:0.0:1.0:0.0	.	95	Q66K64	DCA15_HUMAN	N	95	.	ENSP00000254337:S95N	S	+	2	0	DCAF15	13926391	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.857000	0.92250	2.264000	0.75181	0.651000	0.88453	AGC		0.582	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353	
MAP1S	55201	broad.mit.edu	37	19	17844118	17844118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:17844118C>T	ENST00000324096.4	+	6	3056	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	MAP1S_ENST00000544059.2_Nonsense_Mutation_p.Q943*|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	969	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTTCTTCCAGCGCGTGCG	0.687																																						uc002nhe.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2905-2907)Cag>Tag		Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.							36.0	29.0	31.0					19																	17844118		2196	4296	6492	SO:0001587	stop_gained	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17844118C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2905C>T	19.37:g.17844118C>T	ENSP00000325313:p.Gln969*					MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	p.Q969*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2914	+			969			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Nonsense_Mutation	SNP	ENST00000324096.4	37	c.2905C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230152	0.95207	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	.	.	.	4.63	1.29	0.21616	.	0.499074	0.16747	N	0.201190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3988	3.6901	0.08343	0.1712:0.5399:0.0:0.2889	.	.	.	.	X	969;943	.	ENSP00000325313:Q969X	Q	+	1	0	MAP1S	17705118	0.004000	0.15560	0.204000	0.23530	0.005000	0.04900	0.040000	0.13905	0.069000	0.16605	-0.140000	0.14226	CAG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
ATP13A1	57130	broad.mit.edu	37	19	19756301	19756301	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:19756301C>G	ENST00000357324.6	-	26	3571	c.3545G>C	c.(3544-3546)tGc>tCc	p.C1182S	ATP13A1_ENST00000291503.5_Missense_Mutation_p.C1064S|GMIP_ENST00000445806.2_5'Flank|GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000203556.4_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCGCCAGGCAGAAGTCCAG	0.647																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.4																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(3544-3546)tGc>tCc		Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.							40.0	41.0	41.0					19																	19756301		2202	4298	6500	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756301C>G	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3545G>C	19.37:g.19756301C>G	ENSP00000349877:p.Cys1182Ser					GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.4_Missense_Mutation_p.C550S|ATP13A1_uc002nng.3_Missense_Mutation_p.C1064S	p.C1182S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			25	3573	-			1182					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.3545G>C	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526991	0.44969	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88277	-2.36;-2.36	5.69	3.47	0.39725	.	0.232697	0.44902	D	0.000415	T	0.77909	0.4201	N	0.08118	0	0.32305	N	0.56446	B;B	0.14438	0.01;0.0	B;B	0.15870	0.014;0.003	T	0.78038	-0.2360	10	0.51188	T	0.08	-15.2596	13.198	0.59749	0.2872:0.7128:0.0:0.0	.	1182;1064	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	1064;1182	ENSP00000291503:C1064S;ENSP00000349877:C1182S	ENSP00000291503:C1064S	C	-	2	0	ATP13A1	19617301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.613000	0.46351	1.401000	0.46761	0.561000	0.74099	TGC		0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
GRAMD1A	57655	broad.mit.edu	37	19	35512755	35512755	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:35512755C>A	ENST00000317991.5	+	15	1932	c.1740C>A	c.(1738-1740)ggC>ggA	p.G580G	GRAMD1A_ENST00000411896.2_Silent_p.G573G|GRAMD1A_ENST00000599564.1_Silent_p.G667G|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Silent_p.G346G	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	580						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGGGCCGGCATTCACACCT	0.711																																						uc010xsf.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1753-1755)ggC>ggA		Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.							22.0	27.0	25.0					19																	35512755		1946	4129	6075	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512755C>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1740C>A	19.37:g.35512755C>A						GRAMD1A_uc010xse.1_Silent_p.G580G|GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc002nxn.1_Silent_p.G195G	p.G585G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1755	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		580					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1755C>A	CCDS42546.1																																																																																				0.711	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895	
ZNF565	147929	broad.mit.edu	37	19	36673611	36673611	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:36673611G>A	ENST00000355114.5	-	5	2103	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	ZNF565_ENST00000392173.2_Silent_p.Y419Y|ZNF565_ENST00000304116.5_Silent_p.Y419Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	459					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCTTACATTCGTAGGGTTTGT	0.448																																						uc002odn.3																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1255-1257)taC>taT		Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.							108.0	89.0	95.0					19																	36673611		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673611G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1377C>T	19.37:g.36673611G>A						ZNF565_uc010ees.3_Silent_p.Y354Y|ZNF565_uc002odo.3_Silent_p.Y419Y	p.Y419Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		4	1365	-	Esophageal squamous(110;0.162)		419					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.1257C>T																																																																																					0.448	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
SIRT2	22933	broad.mit.edu	37	19	39371782	39371782	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:39371782A>C	ENST00000249396.7	-	11	1006	c.705T>G	c.(703-705)ttT>ttG	p.F235L	SIRT2_ENST00000358931.5_Missense_Mutation_p.F235L|SIRT2_ENST00000392081.2_Missense_Mutation_p.F198L|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	235	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGCTCTCACCAAAAAAGACGA	0.617																																						uc002ojt.2																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(703-705)ttT>ttG		Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.							78.0	70.0	73.0					19																	39371782		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39371782A>C	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.705T>G	19.37:g.39371782A>C	ENSP00000249396:p.Phe235Leu					RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Missense_Mutation_p.F198L|SIRT2_uc002ojs.2_Missense_Mutation_p.F215L|SIRT2_uc002oju.2_Missense_Mutation_p.F198L|SIRT2_uc010egh.2_Missense_Mutation_p.F198L|SIRT2_uc002ojv.2_Missense_Mutation_p.F233L	p.F235L	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		10	1046	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		235			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.705T>G	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964957	0.74131	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.96	-7.52	0.01341	.	0.061993	0.64402	D	0.000004	D	0.83899	0.5354	H	0.99357	4.53	0.53005	D	0.999966	D;D;D;D	0.89917	0.998;0.998;1.0;0.998	D;D;D;D	0.87578	0.955;0.955;0.998;0.994	D	0.87576	0.2481	10	0.87932	D	0	-13.4168	14.2545	0.66043	0.8326:0.0:0.1674:0.0	.	235;198;235;215	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	L	235;198;235;220;198	ENSP00000249396:F235L;ENSP00000375931:F198L;ENSP00000351809:F235L;ENSP00000404309:F198L	ENSP00000249396:F235L	F	-	3	2	SIRT2	44063622	0.313000	0.24554	0.604000	0.28916	0.515000	0.34225	-0.394000	0.07296	-0.916000	0.03818	-0.744000	0.03518	TTT		0.617	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1		
PSG5	5673	broad.mit.edu	37	19	43689016	43689016	+	Silent	SNP	G	G	A	rs143404539		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:43689016G>A	ENST00000366175.3	-	2	478	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PSG5_ENST00000404580.1_Silent_p.D116D|PSG5_ENST00000599812.1_Silent_p.D116D|PSG5_ENST00000407356.1_Silent_p.D116D|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Silent_p.D116D|PSG5_ENST00000407568.1_Silent_p.D116D			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	116	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCCGGG	0.438													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22284	0.0		0.0	False		,,,				2504	0.0					uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(346-348)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.		A	,	4,4402		0,4,2199	351.0	321.0	331.0		348,348	-0.8	0.0	19	dbSNP_134	331	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	PSG5	NM_001130014.1,NM_002781.3	,	0,6,6492	AA,AG,GG		0.0233,0.0908,0.0462	,	116/336,116/336	43689016	6,12990	2203	4295	6498	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43689016G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.348C>T	19.37:g.43689016G>A						PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.D116D	p.D116D	NM_002781	NP_002772	Q15238	PSG5_HUMAN			1	479	-		Prostate(69;0.00899)	116			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.348C>T	CCDS12617.1																																																																																				0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	
PRKD2	25865	broad.mit.edu	37	19	47197301	47197301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47197301G>A	ENST00000291281.4	-	10	1632	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	PRKD2_ENST00000601806.1_Silent_p.I312I|PRKD2_ENST00000433867.1_Silent_p.I469I|PRKD2_ENST00000600194.1_Silent_p.I312I|PRKD2_ENST00000595515.1_Silent_p.I469I			Q9BZL6	KPCD2_HUMAN	protein kinase D2	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCAGTGACGATCTCAAAGC	0.647																																						uc002pfh.3																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1405-1407)atC>atT		Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.							70.0	56.0	61.0					19																	47197301		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197301G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1407C>T	19.37:g.47197301G>A						PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.I312I|PRKD2_uc002pfi.3_Silent_p.I469I|PRKD2_uc002pfj.3_Silent_p.I469I|PRKD2_uc010xye.2_Silent_p.I469I|PRKD2_uc002pfk.3_Silent_p.I312I	p.I469I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	10	1749	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	469			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1407C>T	CCDS12689.1																																																																																				0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	
DHX34	9704	broad.mit.edu	37	19	47879753	47879753	+	Silent	SNP	C	C	T	rs571902778		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47879753C>T	ENST00000328771.4	+	12	2884	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	845					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGTCTTCGCTGGCAGCC	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18015	0.0		0.0	False		,,,				2504	0.0					uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2533-2535)ttC>ttT		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							21.0	20.0	20.0					19																	47879753		2197	4299	6496	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879753C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2535C>T	19.37:g.47879753C>T						DHX34_uc010xyo.1_5'Flank	p.F845F	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	11	2884	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	845					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2535C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167389	0.01660	.	.	ENSG00000134815	ENST00000257252	.	.	.	5.38	-4.25	0.03766	.	.	.	.	.	T	0.67107	0.2858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72643	-0.4231	5	0.87932	D	0	-22.7127	11.7174	0.51661	0.0:0.4168:0.0:0.5832	.	.	.	.	L	550	.	ENSP00000257252:S550L	S	+	2	0	DHX34	52571551	0.003000	0.15002	0.268000	0.24571	0.022000	0.10575	-1.733000	0.01850	-0.431000	0.07307	-1.287000	0.01368	TCG		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
ZNF649	65251	broad.mit.edu	37	19	52394397	52394397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:52394397C>T	ENST00000354957.3	-	5	1276	c.992G>A	c.(991-993)gGc>gAc	p.G331D	ZNF649_ENST00000600738.1_Missense_Mutation_p.G303D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTTGAGATTGCCCTTCTGAAT	0.453																																						uc002pxy.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(991-993)gGc>gAc		Homo sapiens zinc finger protein 649 (ZNF649), mRNA.							169.0	132.0	145.0					19																	52394397		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394397C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.992G>A	19.37:g.52394397C>T	ENSP00000347043:p.Gly331Asp					ZNF577_uc010ydf.1_5'Flank	p.G331D	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	4	1318	-		all_neural(266;0.0602)	331					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.992G>A	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514568	0.27123	.	.	ENSG00000198093	ENST00000354957	T	0.10099	2.91	2.52	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	L	0.27975	0.815	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.13953	-1.0490	9	0.72032	D	0.01	.	4.3748	0.11265	0.0:0.4144:0.4203:0.1653	.	331	Q9BS31	ZN649_HUMAN	D	331	ENSP00000347043:G331D	ENSP00000347043:G331D	G	-	2	0	ZNF649	57086209	0.000000	0.05858	0.996000	0.52242	0.247000	0.25773	-0.443000	0.06862	1.246000	0.43901	0.404000	0.27445	GGC		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
ZNF347	84671	broad.mit.edu	37	19	53645153	53645153	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:53645153T>A	ENST00000334197.7	-	5	996	c.928A>T	c.(928-930)Atc>Ttc	p.I310F	ZNF347_ENST00000452676.2_Missense_Mutation_p.I311F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.I311F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGGATCACCTGATGG	0.388																																					Melanoma(64;205 1597 17324 45721)	uc002qbc.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(931-933)Atc>Ttc		Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.							163.0	155.0	158.0					19																	53645153		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645153T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.928A>T	19.37:g.53645153T>A	ENSP00000334146:p.Ile310Phe					ZNF347_uc002qbb.2_Missense_Mutation_p.I310F|ZNF347_uc010eql.2_Missense_Mutation_p.I311F	p.I311F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	4	1358	-			310					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.931A>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406926	0.42715	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.18338	2.22;2.22	2.58	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26882	0.0658	L	0.41492	1.28	0.09310	N	1	D;P	0.89917	1.0;0.615	D;B	0.71414	0.973;0.331	T	0.08411	-1.0723	9	0.72032	D	0.01	.	5.7109	0.17935	0.0:0.1456:0.0:0.8544	.	311;310	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	310;311	ENSP00000334146:I310F;ENSP00000405218:I311F	ENSP00000334146:I310F	I	-	1	0	ZNF347	58336965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.004000	0.13106	0.258000	0.21686	-0.326000	0.08463	ATC		0.388	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	G	A	rs571211521	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:55447703G>A	ENST00000590030.1	-	5	2266	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_ENST00000446217.1_Silent_p.I770I|NLRP7_ENST00000588756.1_Silent_p.I742I|NLRP7_ENST00000328092.5_Silent_p.I714I|NLRP7_ENST00000592784.1_Silent_p.I742I|NLRP7_ENST00000340844.2_Silent_p.I742I|NLRP7_ENST00000448121.2_Silent_p.I714I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	742							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552													.|||	3	0.000599042	0.0	0.0	5008	,	,		18339	0.0		0.0	False		,,,				2504	0.0031					uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2224-2226)atC>atT		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							117.0	88.0	98.0					19																	55447703		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55447703G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2226C>T	19.37:g.55447703G>A						NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	p.I742I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2302	-			742					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2226C>T	CCDS33109.1																																																																																				0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
ZNF329	79673	broad.mit.edu	37	19	58640193	58640193	+	Silent	SNP	G	G	A	rs116840582	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:58640193G>A	ENST00000598312.1	-	4	911	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF329_ENST00000358067.4_Silent_p.T226T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCTTCTCTCCGGTGTGAGTTC	0.433													G|||	14	0.00279553	0.0091	0.0	5008	,	,		20104	0.002		0.0	False		,,,				2504	0.0					uc002qrn.3																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(676-678)acC>acT		Homo sapiens zinc finger protein 329 (ZNF329), mRNA.		G		29,4377	35.2+/-66.4	0,29,2174	145.0	137.0	140.0		678	2.2	1.0	19	dbSNP_132	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF329	NM_024620.3		0,30,6473	AA,AG,GG		0.0116,0.6582,0.2307		226/542	58640193	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640193G>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.678C>T	19.37:g.58640193G>A						ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.T226T	p.T226T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	3	915	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	226					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.678C>T	CCDS12972.1																																																																																				0.433	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
CIB4	130106	broad.mit.edu	37	2	26805768	26805768	+	Missense_Mutation	SNP	G	G	A	rs370969445		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:26805768G>A	ENST00000288861.4	-	6	505	c.452C>T	c.(451-453)tCg>tTg	p.S151L	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	151	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGATCCGACTCACTCAG	0.542																																						uc002rhm.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10						c.(451-453)tCg>tTg		Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.							115.0	94.0	101.0					2																	26805768		2203	4300	6503	SO:0001583	missense	130106						calcium ion binding	g.chr2:26805768G>A		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.452C>T	2.37:g.26805768G>A	ENSP00000288861:p.Ser151Leu						p.S151L	NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN			5	481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		151			EF-hand 3.		B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	c.452C>T	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010154	0.54361	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.68479	-0.33	5.46	4.58	0.56647	EF-hand-like domain (1);	0.120797	0.36972	N	0.002302	T	0.44286	0.1286	N	0.05414	-0.055	0.34771	D	0.733759	B	0.32829	0.386	B	0.29663	0.105	T	0.59473	-0.7448	10	0.87932	D	0	.	10.3543	0.43954	0.0907:0.0:0.9093:0.0	.	151	A0PJX0	CIB4_HUMAN	L	151;106;153	ENSP00000288861:S151L	ENSP00000288861:S151L	S	-	2	0	CIB4	26659272	0.998000	0.40836	0.962000	0.40283	0.915000	0.54546	3.450000	0.52957	1.312000	0.45043	0.650000	0.86243	TCG		0.542	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1		
CAD	790	broad.mit.edu	37	2	27465508	27465508	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:27465508G>T	ENST00000403525.1	+	40	6198	c.6054G>T	c.(6052-6054)ctG>ctT	p.L2018L	CAD_ENST00000264705.4_Silent_p.L2081L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	305					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)			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)					TGGGTGACCTGAAGCACGGAC	0.587																																						uc002rji.3																			0				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						c.(6241-6243)ctG>ctT		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						95.0	90.0	92.0					2																	27465508		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.chr2:27465508G>T	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.6054G>T	2.37:g.27465508G>T						CAD_uc010eyw.3_Silent_p.L2018L	p.L2081L	NM_004341	NP_004332	P27708	PYR1_HUMAN			40	6405	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2081			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.6243G>T		.	.	.	.	.	.	.	.	.	.	G	6.569	0.473211	0.12461	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.34	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6407	16.4259	0.83814	0.0:0.1433:0.8567:0.0	.	.	.	.	L	117	.	.	X	+	2	2	CAD	27319012	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.920000	0.63390	2.498000	0.84270	0.561000	0.74099	TGA		0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
BIRC6	57448	broad.mit.edu	37	2	32710744	32710744	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:32710744G>A	ENST00000421745.2	+	40	7865	c.7731G>A	c.(7729-7731)caG>caA	p.Q2577Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2577					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)					GACTTGAACAGCAAGCAGAAC	0.373																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				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						c.(7729-7731)caG>caA		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							120.0	112.0	114.0					2																	32710744		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32710744G>A	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.7731G>A	2.37:g.32710744G>A							p.Q2577Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			39	7865	+	Acute lymphoblastic leukemia(172;0.155)		2577					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.7731G>A	CCDS33175.2																																																																																				0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
PRKCE	5581	broad.mit.edu	37	2	46228662	46228662	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:46228662A>G	ENST00000306156.3	+	7	1270	c.943A>G	c.(943-945)Aac>Gac	p.N315D	PRKCE_ENST00000394874.1_Missense_Mutation_p.N38D	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	315					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAAAATCACCAACAGCGGCCA	0.552																																						uc002rut.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(943-945)Aac>Gac		Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.							67.0	63.0	64.0					2																	46228662		1778	3767	5545	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46228662A>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.943A>G	2.37:g.46228662A>G	ENSP00000306124:p.Asn315Asp						p.N315D	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		6	1140	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	315					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.943A>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120130	0.37436	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.67698	-0.28;0.44	5.64	5.64	0.86602	.	0.143577	0.64402	D	0.000008	T	0.45518	0.1346	N	0.14661	0.345	0.50632	D	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.40572	-0.9556	10	0.12766	T	0.61	.	10.3487	0.43922	0.9277:0.0:0.0722:0.0	.	315	Q02156	KPCE_HUMAN	D	315;38	ENSP00000306124:N315D;ENSP00000378341:N38D	ENSP00000306124:N315D	N	+	1	0	PRKCE	46082166	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.383000	0.79741	2.367000	0.80283	0.528000	0.53228	AAC		0.552	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2		
RAB11FIP5	26056	broad.mit.edu	37	2	73316179	73316179	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:73316179T>C	ENST00000258098.6	-	2	936	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	232					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAGCCTTTGGCTTTGC	0.602																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(694-696)aaA>aaG		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							146.0	131.0	136.0					2																	73316179		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316179T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.696A>G	2.37:g.73316179T>C						RAB11FIP5_uc002sit.4_Silent_p.K154K	p.K232K	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	937	-			232					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.696A>G	CCDS1923.1																																																																																				0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
PAX8	7849	broad.mit.edu	37	2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:113999249G>T	ENST00000429538.3	-	7	850	c.656C>A	c.(655-657)cCc>cAc	p.P219H	AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000556070.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P219H|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P219H|PAX8_ENST00000348715.5_Missense_Mutation_p.P219H|PAX8_ENST00000397647.3_Missense_Mutation_p.P219H|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	219					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.2				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(655-657)cCc>cAc		Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.							72.0	79.0	77.0					2																	113999249		2140	4245	6385	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113999249G>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.656C>A	2.37:g.113999249G>T	ENSP00000395498:p.Pro219His					PAX8_uc010yxu.2_Missense_Mutation_p.P219H|PAX8_uc002tjm.3_Missense_Mutation_p.P219H|PAX8_uc002tjn.3_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	p.P219H	NM_003466	NP_003457	Q06710	PAX8_HUMAN			6	822	-			219					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.656C>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776792	0.70107	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.97791	-4.54;-4.53;-4.29;-3.86;-4.29	4.69	4.69	0.59074	.	0.277140	0.35708	N	0.003028	D	0.97102	0.9053	L	0.34521	1.04	0.37068	D	0.898373	D;D;D;P;P	0.76494	0.99;0.999;0.992;0.867;0.948	P;D;P;P;B	0.65443	0.726;0.935;0.615;0.689;0.438	D	0.97999	1.0359	10	0.56958	D	0.05	.	11.379	0.49746	0.0:0.1838:0.8162:0.0	.	219;219;219;219;219	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	219	ENSP00000263335:P219H;ENSP00000380768:P219H;ENSP00000314750:P219H;ENSP00000395498:P219H;ENSP00000263334:P219H	ENSP00000263334:P219H	P	-	2	0	PAX8	113715719	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.270000	0.72563	2.334000	0.79466	0.650000	0.86243	CCC		0.597	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5		
TTN	7273	broad.mit.edu	37	2	179407009	179407009	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179407009C>G	ENST00000591111.1	-	299	92775	c.92551G>C	c.(92551-92553)Gag>Cag	p.E30851Q	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23552Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23619Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32492Q|TTN_ENST00000342992.6_Missense_Mutation_p.E29924Q|TTN_ENST00000460472.2_Missense_Mutation_p.E23427Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30851	Fibronectin type-III 124. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCGACACTCTATGACCTCA	0.463																																						uc021vsy.1																			0				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						c.(89770-89772)Gag>Cag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							52.0	49.0	50.0					2																	179407009		2037	4190	6227	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407009C>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.92551G>C	2.37:g.179407009C>G	ENSP00000465570:p.Glu30851Gln					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23619Q|TTN_uc021vta.1_Missense_Mutation_p.E23552Q|TTN_uc021vtb.1_Missense_Mutation_p.E23427Q	p.E29924Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	89995	-			30851			Fibronectin type-III 118.		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.89770G>C		.	.	.	.	.	.	.	.	.	.	C	23.1	4.370698	0.82573	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.25;0.23;0.22	6.17	6.17	0.99709	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.73410	0.3583	L	0.39147	1.195	0.52099	D	0.999942	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;P;P;D	0.63488	0.852;0.852;0.852;0.915	T	0.73322	-0.4019	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23427;23552;23619;30851	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29924;23427;23619;23552;23424	ENSP00000343764:E29924Q;ENSP00000434586:E23427Q;ENSP00000340554:E23619Q;ENSP00000352154:E23552Q	ENSP00000340554:E23619Q	E	-	1	0	TTN	179115255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.879000	0.63100	2.941000	0.99782	0.655000	0.94253	GAG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179634616	179634616	+	Frame_Shift_Del	DEL	T	T	-	rs78680811		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179634616delT	ENST00000591111.1	-	37	8916	c.8692delA	c.(8692-8694)actfs	p.T2898fs	TTN_ENST00000359218.5_Frame_Shift_Del_p.T2852fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.T2852fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.T2898fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T2898fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T2852fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.T2898fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13228	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAGGCAGTTTTGGTCTCA	0.368																																						uc021vsy.1																			0				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						c.(8692-8694)actfs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							98.0	99.0	99.0					2																	179634616		2203	4300	6503	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634616delT	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.8692delA	2.37:g.179634616delT	ENSP00000465570:p.Thr2898fs					TTN_uc021vsz.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vta.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	p.T2898fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8917	-			2898			Ig-like 16.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.8692delA																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYO1B	4430	broad.mit.edu	37	2	192255148	192255148	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:192255148T>C	ENST00000392318.3	+	18	2159	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000339514.4_Missense_Mutation_p.Y638H|MYO1B_ENST00000304164.4_Missense_Mutation_p.Y638H|MYO1B_ENST00000392316.1_Missense_Mutation_p.Y638H	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	638	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGGCAGGCCTATGAACCTTG	0.468																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1912-1914)Tat>Cat		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							83.0	79.0	80.0					2																	192255148		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192255148T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1912T>C	2.37:g.192255148T>C	ENSP00000376132:p.Tyr638His					MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	p.Y638H	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		17	2167	+			638			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1912T>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733432	0.89482	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.93759	0.7065	10	0.87932	D	0	.	15.6515	0.77099	0.0:0.0:0.0:1.0	.	638;638	O43795;O43795-2	MYO1B_HUMAN;.	H	638	ENSP00000341903:Y638H;ENSP00000376132:Y638H;ENSP00000306382:Y638H;ENSP00000376130:Y638H	ENSP00000306382:Y638H	Y	+	1	0	MYO1B	191963393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.270000	0.75569	0.533000	0.62120	TAT		0.468	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
TMEFF2	23671	broad.mit.edu	37	2	193049126	193049126	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:193049126T>C	ENST00000272771.5	-	3	1550	c.366A>G	c.(364-366)aaA>aaG	p.K122K	TMEFF2_ENST00000392314.1_Silent_p.K122K|TMEFF2_ENST00000409056.3_Silent_p.K122K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	122	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACTCTGCTGTTTGCATGCAG	0.473																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(364-366)aaA>aaG		Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.							201.0	162.0	175.0					2																	193049126		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193049126T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.366A>G	2.37:g.193049126T>C						TMEFF2_uc002utd.1_Silent_p.K122K	p.K122K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		2	760	-			122			Kazal-like 1.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.366A>G	CCDS2314.1																																																																																				0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
PAX3	5077	broad.mit.edu	37	2	223096854	223096854	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:223096854G>C	ENST00000350526.4	-	5	871	c.735C>G	c.(733-735)gaC>gaG	p.D245E	PAX3_ENST00000409551.3_Missense_Mutation_p.D244E|PAX3_ENST00000336840.6_Missense_Mutation_p.D245E|PAX3_ENST00000344493.4_Missense_Mutation_p.D245E|PAX3_ENST00000392069.2_Missense_Mutation_p.D245E|PAX3_ENST00000392070.2_Missense_Mutation_p.D245E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	245					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGTATAAATGTCAGGGTAAT	0.527			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0		p.D245Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(733-735)gaC>gaG		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							135.0	134.0	134.0					2																	223096854		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096854G>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.735C>G	2.37:g.223096854G>C	ENSP00000343052:p.Asp245Glu					PAX3_uc002vmt.2_Missense_Mutation_p.D245E|PAX3_uc002vmy.2_Missense_Mutation_p.D244E|PAX3_uc002vmv.2_Missense_Mutation_p.D245E|PAX3_uc002vmw.2_Missense_Mutation_p.D245E|PAX3_uc002vmx.2_Missense_Mutation_p.D245E	p.D245E	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1116	-		Renal(207;0.0183)	245					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.735C>G	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802915	0.70682	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.37	0.436	0.16549	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.90650	3.135	0.80722	D	1	D;D;D;P;D	0.89917	0.985;1.0;1.0;0.828;1.0	D;D;D;P;D	0.87578	0.932;0.998;0.997;0.54;0.996	D	0.96653	0.9483	10	0.87932	D	0	.	10.478	0.44676	0.4109:0.0:0.5891:0.0	.	245;244;245;245;245	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	E	245;245;245;245;245;244	ENSP00000375921:D245E;ENSP00000342092:D245E;ENSP00000343052:D245E;ENSP00000375922:D245E;ENSP00000338767:D245E;ENSP00000386750:D244E	ENSP00000338767:D245E	D	-	3	2	PAX3	222805098	0.983000	0.35010	0.997000	0.53966	0.985000	0.73830	0.223000	0.17719	0.080000	0.16959	-0.484000	0.04775	GAC		0.527	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
ESPNL	339768	broad.mit.edu	37	2	239036280	239036280	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:239036280G>C	ENST00000343063.3	+	7	1383	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	ESPNL_ENST00000409506.1_Missense_Mutation_p.A6P|ESPNL_ENST00000409169.1_Missense_Mutation_p.A330P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	374	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAGCCCGGCCTGGCCTGG	0.672																																						uc002vxq.4																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1120-1122)Gcc>Ccc		Homo sapiens espin-like (ESPNL), mRNA.							36.0	33.0	34.0					2																	239036280		2203	4298	6501	SO:0001583	missense	339768							g.chr2:239036280G>C	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1120G>C	2.37:g.239036280G>C	ENSP00000339115:p.Ala374Pro					ESPNL_uc010fyw.3_Missense_Mutation_p.A70P	p.A374P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	6	1230	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	374			Pro-rich.		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1120G>C	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441125	0.04604	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506;ENST00000423032	T;T;T	0.64260	-0.09;1.04;0.58	2.99	-0.0333	0.13901	.	1.296990	0.05630	N	0.581529	T	0.57301	0.2044	L	0.51422	1.61	0.09310	N	1	B;B	0.31009	0.25;0.303	B;B	0.37091	0.241;0.121	T	0.49799	-0.8901	10	0.42905	T	0.14	-8.5552	5.2103	0.15312	0.4772:0.0:0.5228:0.0	.	330;374	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	P	374;330;6;6	ENSP00000339115:A374P;ENSP00000386577:A330P;ENSP00000386579:A6P	ENSP00000339115:A374P	A	+	1	0	ESPNL	238701019	0.001000	0.12720	0.158000	0.22627	0.009000	0.06853	-0.124000	0.10595	-0.020000	0.14032	-0.387000	0.06579	GCC		0.672	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
OR6B3	150681	broad.mit.edu	37	2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T	rs201073756		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:240985270C>T	ENST00000319423.4	-	1	219	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557													c|||	1	0.000199681	0.0	0.0	5008	,	,		21750	0.001		0.0	False		,,,				2504	0.0					uc010zoe.2																			0				endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18						c.(220-222)Gtg>Atg		Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.							101.0	106.0	104.0					2																	240985270		2092	4212	6304	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240985270C>T		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.220G>A	2.37:g.240985270C>T	ENSP00000322435:p.Val74Met					PRR21_uc010zod.2_5'Flank	p.V74M	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	0	220	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	74					Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.220G>A	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863075	0.32884	.	.	ENSG00000178586	ENST00000319423	T	0.00438	7.42	3.96	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.924705	0.08879	N	0.880296	T	0.00666	0.0022	M	0.76727	2.345	0.09310	N	1	D	0.63046	0.992	P	0.54060	0.741	T	0.51624	-0.8682	10	0.72032	D	0.01	.	3.4818	0.07605	0.1998:0.5882:0.0:0.212	.	74	Q8NGW1	OR6B3_HUMAN	M	74	ENSP00000322435:V74M	ENSP00000322435:V74M	V	-	1	0	OR6B3	240633943	0.000000	0.05858	0.011000	0.14972	0.713000	0.41058	-0.412000	0.07132	0.620000	0.30215	0.505000	0.49811	GTG		0.557	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
MYEOV2	150678	broad.mit.edu	37	2	241066064	241066064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241066064delT	ENST00000307266.3	-	5	674	c.675delA	c.(673-675)aaafs	p.K225fs		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTAAAACATTTACCCCTCC	0.488																																						uc002vyu.1																			0				breast(1)|lung(5)|pancreas(1)	7						c.(673-675)aaafs		Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.							183.0	143.0	157.0					2																	241066064		2203	4300	6503	SO:0001589	frameshift_variant	150678							g.chr2:241066064delT	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.675delA	2.37:g.241066064delT	ENSP00000304147:p.Lys225fs						p.K225fs	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	675	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Frame_Shift_Del	DEL	ENST00000307266.3	37	c.675delA	CCDS2532.1																																																																																				0.488	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336	
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	IGR	SNP	C	C	T	rs551865042		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241069334C>T	ENST00000607357.1	-	0	418				MYEOV2_ENST00000489698.1_5'Flank|MYEOV2_ENST00000307266.3_Silent_p.S125S	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0					uc002vyu.1																			0				breast(1)|lung(5)|pancreas(1)	7						c.(373-375)tcG>tcA		Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.							110.0	85.0	93.0					2																	241069334		2203	4300	6503	SO:0001628	intergenic_variant	150678							g.chr2:241069334C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352		2.37:g.241069334C>T							p.S125S	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	3	375	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Silent	SNP	ENST00000607357.1	37	c.375G>A																																																																																					0.617	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336	
D2HGDH	728294	broad.mit.edu	37	2	242683078	242683078	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:242683078A>G	ENST00000321264.4	+	5	741	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	D2HGDH_ENST00000403782.1_Missense_Mutation_p.S44G|D2HGDH_ENST00000537090.1_Missense_Mutation_p.S178G|D2HGDH_ENST00000342518.6_Missense_Mutation_p.S178G	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	178	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGAGGAGCTGAGCCGGTATGT	0.642																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(532-534)Agc>Ggc		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							51.0	49.0	50.0					2																	242683078		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242683078A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.532A>G	2.37:g.242683078A>G	ENSP00000315351:p.Ser178Gly					D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.S178G	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	705	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	178			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.532A>G	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.50|11.50	1.655983|1.655983	0.29425|0.29425	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000417686|ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	.|D;D;D;D	.|0.95690	.|-3.78;-3.78;-3.78;-3.78	5.15|5.15	3.98|3.98	0.46160|0.46160	.|FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	.|0.320775	.|0.36134	.|N	.|0.002772	D|D	0.93145|0.93145	0.7817|0.7817	L|L	0.58354|0.58354	1.805|1.805	0.33666|0.33666	D|D	0.610293|0.610293	.|B	.|0.09022	.|0.002	.|B	.|0.13407	.|0.009	D|D	0.92354|0.92354	0.5892|0.5892	5|10	.|0.72032	.|D	.|0.01	.|.	10.6316|10.6316	0.45541|0.45541	0.9239:0.0:0.0761:0.0|0.9239:0.0:0.0761:0.0	.|.	.|178	.|Q8N465	.|D2HDH_HUMAN	G|G	19|178;178;44;178	.|ENSP00000442796:S178G;ENSP00000315351:S178G;ENSP00000384723:S44G;ENSP00000339536:S178G	.|ENSP00000315351:S178G	E|S	+|+	2|1	0|0	D2HGDH|D2HGDH	242331751|242331751	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.243000|0.243000	0.25628|0.25628	4.210000|4.210000	0.58500|0.58500	0.814000|0.814000	0.34374|0.34374	0.379000|0.379000	0.24179|0.24179	GAG|AGC		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783	
RBCK1	10616	broad.mit.edu	37	20	409649	409649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:409649C>T	ENST00000356286.5	+	11	2068	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	RBCK1_ENST00000382181.2_Nonsense_Mutation_p.Q285*|RBCK1_ENST00000353660.3_Nonsense_Mutation_p.Q413*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	455					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GATCGTGGTACAGAAGAAGGA	0.682																																						uc002wdp.4																			0				kidney(1)|lung(4)	5						c.(1363-1365)Cag>Tag		Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.							33.0	33.0	33.0					20																	409649		2203	4300	6503	SO:0001587	stop_gained	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409649C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1363C>T	20.37:g.409649C>T	ENSP00000348632:p.Gln455*					RBCK1_uc002wdq.4_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q285*	p.Q455*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			10	2056	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	455					O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	37	c.1363C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	43	10.506387	0.99418	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7614	15.8931	0.79315	0.0:1.0:0.0:0.0	.	.	.	.	X	455;413;285	.	ENSP00000254960:Q413X	Q	+	1	0	RBCK1	357649	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.306000	0.78905	2.619000	0.88677	0.650000	0.86243	CAG		0.682	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	
RBPJL	11317	broad.mit.edu	37	20	43936878	43936878	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:43936878G>T	ENST00000343694.3	+	2	190	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	MATN4_ENST00000372751.4_5'UTR|MATN4_ENST00000372756.1_5'Flank|RBPJL_ENST00000372743.1_Missense_Mutation_p.G40C|RBPJL_ENST00000372741.3_Missense_Mutation_p.G40C|MATN4_ENST00000342716.4_5'UTR|MATN4_ENST00000537548.1_5'UTR|MATN4_ENST00000372754.1_5'Flank|MATN4_ENST00000360607.6_5'UTR|MATN4_ENST00000353917.5_5'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	40					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCCTCCCGGGCACTTGGAC	0.642																																						uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(118-120)Ggc>Tgc		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							41.0	45.0	43.0					20																	43936878		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43936878G>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.118G>T	20.37:g.43936878G>T	ENSP00000341243:p.Gly40Cys					MATN4_uc002xnp.2_5'UTR|MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.3_Missense_Mutation_p.G40C	p.G40C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			1	190	+		Myeloproliferative disorder(115;0.0122)	40					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.118G>T	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190345	0.58017	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.59083	1.11;0.29;1.11	4.19	3.16	0.36331	.	0.702414	0.12679	N	0.448127	T	0.43500	0.1250	N	0.14661	0.345	0.09310	N	1	D;D	0.58620	0.983;0.97	P;B	0.46975	0.533;0.436	T	0.25117	-1.0141	10	0.62326	D	0.03	-15.5085	8.6602	0.34088	0.0:0.0:0.7723:0.2277	.	40;40	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	C	40	ENSP00000361828:G40C;ENSP00000361826:G40C;ENSP00000341243:G40C	ENSP00000341243:G40C	G	+	1	0	RBPJL	43370292	0.913000	0.31002	0.639000	0.29394	0.881000	0.50899	2.475000	0.45162	2.332000	0.79248	0.462000	0.41574	GGC		0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	
GGTLC2	91227	broad.mit.edu	37	22	22989259	22989259	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:22989259T>A	ENST00000480559.1	+	2	212	c.212T>A	c.(211-213)aTc>aAc	p.I71N	GGTLC2_ENST00000448514.1_Missense_Mutation_p.I71N|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	71					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GTCAGCGAGATCCTGTTCAAT	0.592																																						uc010gts.2																			0		p.E70G(1)|p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(211-213)aTc>aAc		Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.							78.0	82.0	81.0					22																	22989259		2203	4298	6501	SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989259T>A	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.212T>A	22.37:g.22989259T>A	ENSP00000419751:p.Ile71Asn					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.I71N	p.I71N	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	246	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	71					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.212T>A	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	t	13.39	2.223119	0.39300	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.11169	2.8;2.8	.	.	.	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	H	0.98178	4.165	0.39883	D	0.97366	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.25152	-1.0140	9	0.87932	D	0	-27.8664	4.4758	0.11739	0.0:8.0E-4:0.0:0.9992	.	71;71	Q14390;B7WND7	GGTL2_HUMAN;.	N	71	ENSP00000419751:I71N;ENSP00000415676:I71N	ENSP00000415676:I71N	I	+	2	0	GGTLC2	21319259	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.272000	0.51616	0.000000	0.14550	0.000000	0.15137	ATC		0.592	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127	
PLA2G6	8398	broad.mit.edu	37	22	38541510	38541510	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:38541510C>G	ENST00000332509.3	-	3	543	c.360G>C	c.(358-360)tgG>tgC	p.W120C	PLA2G6_ENST00000402064.1_Missense_Mutation_p.W120C|PLA2G6_ENST00000447598.2_3'UTR|PLA2G6_ENST00000335539.3_Missense_Mutation_p.W120C|PLA2G6_ENST00000436218.1_Missense_Mutation_p.W120C	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	120					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCCACTGACCAGCTGGGGT	0.577																																						uc003auy.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(358-360)tgG>tgC		Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	Quinacrine(DB01103)						67.0	48.0	54.0					22																	38541510		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38541510C>G	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.360G>C	22.37:g.38541510C>G	ENSP00000333142:p.Trp120Cys					PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	p.W120C	NM_003560	NP_003551	O60733	PA2G6_HUMAN			2	496	-	Melanoma(58;0.045)		120					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.360G>C	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308846	0.81247	.	.	ENSG00000184381	ENST00000332509;ENST00000335539;ENST00000402064;ENST00000396860;ENST00000451461	T;T;T	0.65364	-0.15;-0.11;-0.11	5.3	5.3	0.74995	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.76321	-0.3002	10	0.62326	D	0.03	-18.5657	16.1222	0.81365	0.0:1.0:0.0:0.0	.	120;120;120	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	C	120	ENSP00000333142:W120C;ENSP00000335149:W120C;ENSP00000386100:W120C	ENSP00000333142:W120C	W	-	3	0	PLA2G6	36871456	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.437000	0.73421	2.472000	0.83506	0.655000	0.94253	TGG		0.577	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
RANGAP1	5905	broad.mit.edu	37	22	41652054	41652054	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:41652054G>T	ENST00000455915.2	-	9	2513	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	RANGAP1_ENST00000407260.4_Missense_Mutation_p.F293L|RANGAP1_ENST00000405486.1_Missense_Mutation_p.F348L|RANGAP1_ENST00000356244.3_Missense_Mutation_p.F348L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	348					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCATGTTGAAGCCCTCCA	0.597																																						uc003azs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1042-1044)ttC>ttA		Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.							56.0	45.0	49.0					22																	41652054		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652054G>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1044C>A	22.37:g.41652054G>T	ENSP00000401470:p.Phe348Leu					RANGAP1_uc003azt.3_Missense_Mutation_p.F348L|RANGAP1_uc003azu.3_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.2_Missense_Mutation_p.F293L	p.F348L	NM_002883	NP_002874	P46060	RAGP1_HUMAN			8	2514	-			348					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1044C>A	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.10|14.10	2.434554|2.434554	0.43224|0.43224	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260|ENST00000446258	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.9|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.197947|.	0.53938|.	D|.	0.000054|.	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.39397|0.39397	1.21|1.21	0.41054|0.41054	D|D	0.985322|0.985322	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.17433|.	0.018;0.002|.	T|T	0.52162|0.52162	-0.8612|-0.8612	10|5	0.09843|.	T|.	0.71|.	-14.0954|-14.0954	9.5553|9.5553	0.39334|0.39334	0.1546:0.0:0.8454:0.0|0.1546:0.0:0.8454:0.0	.|.	293;348|.	F8W7I9;P46060|.	.;RAGP1_HUMAN|.	L|K	348;348;348;348;293|244	ENSP00000385866:F348L;ENSP00000348577:F348L;ENSP00000401470:F348L;ENSP00000385354:F293L|.	ENSP00000348577:F348L|.	F|Q	-|-	3|1	2|0	RANGAP1|RANGAP1	39982000|39982000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.900000|3.900000	0.56295|0.56295	2.467000|2.467000	0.83353|0.83353	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.597	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883	
SBF1	6305	broad.mit.edu	37	22	50904674	50904674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:50904674G>A	ENST00000390679.3	-	8	986	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SBF1_ENST00000348911.6_Missense_Mutation_p.P269S|SBF1_ENST00000380817.3_Missense_Mutation_p.P268S			O95248	MTMR5_HUMAN	SET binding factor 1	268	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGATGGGCACATAGGTG	0.672																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(802-804)Ccc>Tcc		Homo sapiens SET binding factor 1 (SBF1), mRNA.							30.0	37.0	34.0					22																	50904674		2113	4229	6342	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904674G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.802C>T	22.37:g.50904674G>A	ENSP00000375097:p.Pro268Ser					SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S	p.P268S	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	7	997	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	268			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.802C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.209942	0.79240	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.27557	1.66;1.66;1.66	4.44	3.39	0.38822	.	0.063978	0.64402	D	0.000005	T	0.68485	0.3006	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80464	-0.1371	10	0.72032	D	0.01	.	13.8658	0.63588	0.0:0.1544:0.8456:0.0	.	269;268	G5E933;O95248-4	.;.	S	268;269;279;278;268	ENSP00000370196:P268S;ENSP00000252027:P269S;ENSP00000375097:P268S	ENSP00000336522:P278S	P	-	1	0	SBF1	49251540	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	4.348000	0.59379	1.062000	0.40625	0.462000	0.41574	CCC		0.672	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
DNAH1	25981	broad.mit.edu	37	3	52393305	52393305	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:52393305C>G	ENST00000420323.2	+	26	4571	c.4310C>G	c.(4309-4311)aCc>aGc	p.T1437S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1437	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCAGGTGACCATCGCTGGG	0.627																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4309-4311)aCc>aGc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							26.0	33.0	31.0					3																	52393305		1962	4145	6107	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393305C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4310C>G	3.37:g.52393305C>G	ENSP00000401514:p.Thr1437Ser						p.T1437S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	4571	+			1437			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4310C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823030	0.50739	.	.	ENSG00000114841	ENST00000420323	T	0.55930	0.49	5.53	3.73	0.42828	.	0.000000	0.52532	D	0.000062	T	0.41534	0.1163	L	0.38953	1.18	0.35274	D	0.780742	B	0.20887	0.049	B	0.19946	0.027	T	0.51379	-0.8713	10	0.49607	T	0.09	.	10.4778	0.44676	0.0:0.7887:0.0:0.2113	.	1437	C9JXH6	.	S	1437	ENSP00000401514:T1437S	ENSP00000401514:T1437S	T	+	2	0	DNAH1	52368345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.026000	0.49689	1.336000	0.45506	0.655000	0.94253	ACC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
OR5K2	402135	broad.mit.edu	37	3	98216751	98216751	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:98216751C>G	ENST00000427338.1	+	1	304	c.227C>G	c.(226-228)gCt>gGt	p.A76G		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCCTGTGCTATTACCCCC	0.413																																						uc011bgx.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(226-228)gCt>gGt		Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.							142.0	151.0	148.0					3																	98216751		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216751C>G	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.227C>G	3.37:g.98216751C>G	ENSP00000393889:p.Ala76Gly						p.A76G	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			0	227	+			76					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.227C>G	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	C	8.871	0.949224	0.18356	.	.	ENSG00000231861	ENST00000427338	T	0.00444	7.4	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.164825	0.28549	N	0.014944	T	0.00637	0.0021	M	0.70903	2.155	0.09310	N	1	P	0.51351	0.944	P	0.51866	0.682	T	0.47774	-0.9091	10	0.66056	D	0.02	-5.2766	11.338	0.49516	0.0:1.0:0.0:0.0	.	76	Q8NHB8	OR5K2_HUMAN	G	76	ENSP00000393889:A76G	ENSP00000393889:A76G	A	+	2	0	OR5K2	99699441	0.000000	0.05858	0.025000	0.17156	0.045000	0.14185	0.235000	0.17948	1.747000	0.51819	0.298000	0.19748	GCT		0.413	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2		
PPP2R3A	5523	broad.mit.edu	37	3	135721607	135721607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:135721607G>T	ENST00000264977.3	+	2	1884	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	423					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTCAGATGGAAAGAAAGC	0.358																																						uc003eqv.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1267-1269)Gga>Tga		Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.							70.0	76.0	74.0					3																	135721607		2182	4294	6476	SO:0001587	stop_gained	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721607G>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1267G>T	3.37:g.135721607G>T	ENSP00000264977:p.Gly423*					PPP2R3A_uc011blz.2_Intron	p.G423*	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			1	1884	+			423					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Nonsense_Mutation	SNP	ENST00000264977.3	37	c.1267G>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	42	9.277660	0.99122	.	.	ENSG00000073711	ENST00000264977	.	.	.	5.45	4.58	0.56647	.	0.675506	0.14277	N	0.329798	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.472	0.32991	0.0774:0.0:0.7707:0.1519	.	.	.	.	X	423	.	ENSP00000264977:G423X	G	+	1	0	PPP2R3A	137204297	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.350000	0.44063	1.294000	0.44707	0.655000	0.94253	GGA		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
PXYLP1	92370	broad.mit.edu	37	3	141006223	141006223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:141006223G>T	ENST00000286353.4	+	5	570	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	ACPL2_ENST00000502783.1_Nonsense_Mutation_p.E107*|ACPL2_ENST00000508812.1_Nonsense_Mutation_p.E136*|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Nonsense_Mutation_p.E128*|ACPL2_ENST00000393010.2_Nonsense_Mutation_p.E145*|ACPL2_ENST00000393007.1_Nonsense_Mutation_p.E129*	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		145						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCTCTTTCGAAAGCCCCTT	0.493																																						uc003etu.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(433-435)Gaa>Taa		Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.							144.0	143.0	143.0					3																	141006223		2203	4300	6503	SO:0001587	stop_gained	92370					extracellular region	acid phosphatase activity	g.chr3:141006223G>T																												ENST00000286353.4:c.433G>T	3.37:g.141006223G>T	ENSP00000286353:p.Glu145*					ACPL2_uc003etv.3_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.2_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.E128*	p.E145*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			6	732	+			145					D3DNF5|Q49AJ2|W0TR04	Nonsense_Mutation	SNP	ENST00000286353.4	37	c.433G>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	38	6.806258	0.97853	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	.	.	.	5.67	5.67	0.87782	.	0.155161	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.2762	0.87116	0.0:0.0:1.0:0.0	.	.	.	.	X	145;145;107;145;107;128;136;129	.	ENSP00000286353:E145X	E	+	1	0	ACPL2	142488913	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.771000	0.98977	2.677000	0.91161	0.561000	0.74099	GAA		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		
PLCH1	23007	broad.mit.edu	37	3	155198910	155198910	+	Missense_Mutation	SNP	T	T	A	rs200248330	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:155198910T>A	ENST00000340059.7	-	23	4928	c.4929A>T	c.(4927-4929)aaA>aaT	p.K1643N	PLCH1_ENST00000334686.6_Missense_Mutation_p.K1605N|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1605N|PLCH1_ENST00000460012.1_Missense_Mutation_p.K1605N|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1643					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCACCCCCTTTCGTGTTCT	0.562																																						uc021xge.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4927-4929)aaA>aaT		Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.							58.0	62.0	60.0					3																	155198910		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198910T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4929A>T	3.37:g.155198910T>A	ENSP00000345988:p.Lys1643Asn					PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1605N	p.K1643N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	5206	-			1643					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4929A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	3.439	-0.114533	0.06881	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.86	-6.86	0.01676	.	1.617270	0.03121	N	0.163765	T	0.13329	0.0323	L	0.46157	1.445	0.09310	N	1	B;B	0.24823	0.112;0.068	B;B	0.17979	0.02;0.009	T	0.16217	-1.0410	10	0.21540	T	0.41	.	1.233	0.01947	0.2229:0.3566:0.181:0.2394	.	1605;1643	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1605;1643;1605;1605	ENSP00000417502:K1605N;ENSP00000345988:K1643N;ENSP00000335469:K1605N;ENSP00000412977:K1605N	ENSP00000335469:K1605N	K	-	3	2	PLCH1	156681604	.	.	0.000000	0.03702	0.278000	0.26855	.	.	-1.550000	0.01708	-0.256000	0.11100	AAA		0.562	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
MECOM	2122	broad.mit.edu	37	3	168834168	168834168	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:168834168C>T	ENST00000464456.1	-	7	2128	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	MECOM_ENST00000433243.2_Missense_Mutation_p.G311S|MECOM_ENST00000468789.1_Missense_Mutation_p.G310S|MECOM_ENST00000264674.3_Missense_Mutation_p.G375S|MECOM_ENST00000472280.1_Missense_Mutation_p.G311S|MECOM_ENST00000392736.3_Missense_Mutation_p.G310S|MECOM_ENST00000460814.1_Missense_Mutation_p.G310S|MECOM_ENST00000494292.1_Missense_Mutation_p.G498S	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)			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						TGGTACAAGCCGGAAGGAAAC	0.473																																						uc011bpj.1																			0				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						c.(1492-1494)Ggc>Agc		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							309.0	273.0	285.0					3																	168834168		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834168C>T	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.928G>A	3.37:g.168834168C>T	ENSP00000419770:p.Gly310Ser					MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc003ffi.3_Missense_Mutation_p.G310S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpk.1_Missense_Mutation_p.G310S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S	p.G498S	NM_004991	NP_004982	Q13465	MDS1_HUMAN			7	1895	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1492G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159814	0.09287	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04406	3.67;3.67;3.63;3.78;3.63;3.67;3.64;3.78	5.93	5.93	0.95920	.	0.245923	0.36200	N	0.002739	T	0.02649	0.0080	N	0.01761	-0.735	0.53005	D	0.999962	D;P;P;P;P	0.60575	0.988;0.855;0.907;0.855;0.944	P;B;B;B;B	0.48552	0.581;0.201;0.261;0.201;0.158	T	0.54234	-0.8324	10	0.02654	T	1	-11.4532	13.5241	0.61584	0.0:0.9291:0.0:0.0709	.	498;311;498;375;310	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	375;310;310;311;498;310;310;311	ENSP00000264674:G375S;ENSP00000376493:G310S;ENSP00000419770:G310S;ENSP00000420048:G311S;ENSP00000417899:G498S;ENSP00000419995:G310S;ENSP00000420466:G310S;ENSP00000394302:G311S	ENSP00000264674:G375S	G	-	1	0	MECOM	170316862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.823000	0.55715	2.805000	0.96524	0.655000	0.94253	GGC		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
PIK3CA	5290	broad.mit.edu	37	3	178928108	178928127	+	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-	rs372316575		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	ENST00000263967.3	+	8	1543_1561	c.1386_1404delTGGATCAAATCCAAATAAAG	c.(1384-1404)actggatcaaatccaaataaa>ac	p.TGSNPNK462fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	462	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P466S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	0.332		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1	Substitution - Missense(1)	p.P466S(1)	NS(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e8+1		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1404+1TGGATCAAATCCAAATAAAG>-	3.37:g.178928108_178928127delTGGATCAAATCCAAATAAAG		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K468_splice	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1561	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		468			C2 PI3K-type.		Q14CW1|Q99762	Splice_Site	DEL	ENST00000263967.3	37	c.1404_splice	CCDS43171.1																																																																																				0.332	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Frame_Shift_Del
HRG	3273	broad.mit.edu	37	3	186394875	186394875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:186394875C>A	ENST00000232003.4	+	7	861	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	261					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCATTTGGGACATCCCTTCCA	0.468																																						uc003fqq.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(781-783)Cat>Aat		Homo sapiens histidine-rich glycoprotein (HRG), mRNA.							175.0	150.0	159.0					3																	186394875		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394875C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.781C>A	3.37:g.186394875C>A	ENSP00000232003:p.His261Asn						p.H261N	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	6	804	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		261					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.781C>A	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601360	0.13939	.	.	ENSG00000113905	ENST00000232003	T	0.19532	2.14	4.57	2.74	0.32292	.	0.568557	0.15895	N	0.239364	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.33694	0.421	B	0.32533	0.147	T	0.25433	-1.0132	10	0.13470	T	0.59	-0.0031	6.0267	0.19658	0.1847:0.7172:0.0:0.0981	.	261	P04196	HRG_HUMAN	N	261	ENSP00000232003:H261N	ENSP00000232003:H261N	H	+	1	0	HRG	187877569	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.318000	0.19504	0.648000	0.30732	-0.263000	0.10527	CAT		0.468	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
TNK2	10188	broad.mit.edu	37	3	195611779	195611779	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:195611779G>C	ENST00000333602.6	-	4	977	c.360C>G	c.(358-360)ctC>ctG	p.L120L	TNK2_ENST00000316664.3_Silent_p.L120L|TNK2_ENST00000381916.2_Silent_p.L183L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Silent_p.L120L|TNK2_ENST00000428187.1_Silent_p.L152L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	120					cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTCCCCAATGAGGCAGGTGA	0.672																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(358-360)ctC>ctG		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						38.0	39.0	39.0					3																	195611779		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611779G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.360C>G	3.37:g.195611779G>C						TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	p.L120L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	3	903	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	120					Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.360C>G	CCDS33928.1																																																																																				0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
FGFR3	2261	broad.mit.edu	37	4	1807639	1807639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1807639G>A	ENST00000260795.2	+	12	1910	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	FGFR3_ENST00000440486.2_Missense_Mutation_p.R603Q|FGFR3_ENST00000412135.2_Missense_Mutation_p.R491Q|FGFR3_ENST00000481110.2_Missense_Mutation_p.R604Q|FGFR3_ENST00000340107.4_Missense_Mutation_p.R605Q|FGFR3_ENST00000352904.1_Missense_Mutation_p.R491Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CAGGTGGCCCGGGGCATGGAG	0.692		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0		p.R603R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1807-1809)cGg>cAg		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)						43.0	51.0	48.0					4																	1807639		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807639G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1808G>A	4.37:g.1807639G>A	ENSP00000260795:p.Arg603Gln					FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	p.R603Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		12	2064	+		Breast(71;0.212)|all_epithelial(65;0.241)	603			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1808G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.065387	0.76187	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.18	4.18	0.49190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	N	0.05534	-0.03	0.80722	D	1	P;D;D;D	0.89917	0.917;0.999;1.0;1.0	B;D;D;D	0.83275	0.243;0.975;0.996;0.977	D	0.87477	0.2418	10	0.87932	D	0	.	16.916	0.86152	0.0:0.0:1.0:0.0	.	605;491;603;604	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	Q	604;605;603;491;603;491	ENSP00000420533:R604Q;ENSP00000339824:R605Q;ENSP00000414914:R603Q;ENSP00000412903:R491Q;ENSP00000260795:R603Q;ENSP00000231803:R491Q	ENSP00000260795:R603Q	R	+	2	0	FGFR3	1777437	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	6.404000	0.73268	2.057000	0.61298	0.289000	0.19496	CGG		0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142	
NELFA	7469	broad.mit.edu	37	4	1986590	1986590	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1986590G>A	ENST00000411638.2	-	8	996	c.981C>T	c.(979-981)tcC>tcT	p.S327S	NELFA_ENST00000542778.1_Silent_p.S192S|NELFA_ENST00000382882.3_Silent_p.S338S|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	327					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CGCTGGGCGTGGAGGGAAGGT	0.617																																						uc003gem.3																			0				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18						c.(1012-1014)tcC>tcT		Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.							89.0	83.0	85.0					4																	1986590		2187	4296	6483	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1986590G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.981C>T	4.37:g.1986590G>A						WHSC2_uc003gek.3_Silent_p.S64S|WHSC2_uc003gel.3_Silent_p.S252S|WHSC2_uc003gen.3_Silent_p.S192S	p.S338S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		7	1257	-			327					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1014C>T		.	.	.	.	.	.	.	.	.	.	G	11.10	1.540397	0.27563	.	.	ENSG00000185049	ENST00000453740	.	.	.	4.96	-6.11	0.02131	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	-21.9331	4.0511	0.09796	0.5821:0.084:0.1516:0.1823	.	.	.	.	L	228	.	.	P	-	2	0	WHSC2	1956388	0.957000	0.32711	0.360000	0.25837	0.987000	0.75469	0.030000	0.13688	-1.082000	0.03101	-0.123000	0.14984	CCA		0.617	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
CC2D2A	57545	broad.mit.edu	37	4	15589458	15589458	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:15589458C>T	ENST00000503292.1	+	33	4265	c.4085C>T	c.(4084-4086)gCa>gTa	p.A1362V	CC2D2A_ENST00000424120.1_Missense_Mutation_p.A1362V|CC2D2A_ENST00000413206.1_Missense_Mutation_p.A1362V|CC2D2A_ENST00000389652.5_Missense_Mutation_p.A1254V	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1362					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATCTCCTGGCAGGGGATGAA	0.383																																						uc010idv.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4084-4086)gCa>gTa		Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.							90.0	82.0	85.0					4																	15589458		1873	4105	5978	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15589458C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4085C>T	4.37:g.15589458C>T	ENSP00000421809:p.Ala1362Val					CC2D2A_uc003gnx.3_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	p.A1362V	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			32	4330	+			1362					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4085C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918994	0.73098	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.966	D;D	0.80764	0.994;0.91	D	0.85029	0.0916	10	0.54805	T	0.06	.	20.1043	0.97884	0.0:1.0:0.0:0.0	.	1362;1254	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	V	1362;1362;1254;1254;1362;1254	ENSP00000403465:A1362V;ENSP00000398391:A1362V;ENSP00000421809:A1362V;ENSP00000374303:A1254V	ENSP00000374303:A1254V	A	+	2	0	CC2D2A	15198556	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.891000	0.63185	2.745000	0.94114	0.585000	0.79938	GCA		0.383	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
SLIT2	9353	broad.mit.edu	37	4	20598280	20598280	+	Splice_Site	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:20598280T>A	ENST00000504154.1	+	32	3813		c.e32+2		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						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)			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						ACACTTCAGGTAAGAGATCTC	0.358																																						uc003gpr.1																			0				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						c.e32+2		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							52.0	53.0	53.0					4																	20598280		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:20598280T>A	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.3561+2T>A	4.37:g.20598280T>A						SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice	p.Q1187_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3765	+			1187			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37	c.3561_splice	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834326	0.91036	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20207378	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.630000	0.83225	2.371000	0.80710	0.533000	0.62120	.		0.358	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:66361196T>A	ENST00000273854.3	-	4	1576	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.S326C|EPHA5_ENST00000354839.4_Missense_Mutation_p.S326C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	326	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(976-978)Agt>Tgt		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							152.0	150.0	150.0					4																	66361196		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361196T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.976A>T	4.37:g.66361196T>A	ENSP00000273854:p.Ser326Cys	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.S257C|EPHA5_uc003hcz.3_Missense_Mutation_p.S326C|EPHA5_uc011cah.2_Missense_Mutation_p.S326C|EPHA5_uc011cai.2_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	p.S326C	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1169	-			326			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.976A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710820	0.89112	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.80909	1.53;1.53;-1.43	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000005	D	0.91603	0.7347	M	0.89715	3.055	0.58432	D	0.999993	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.957;0.997;0.981;0.969	D	0.93161	0.6558	10	0.87932	D	0	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	326;326;326;326	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	326	ENSP00000273854:S326C;ENSP00000346899:S326C;ENSP00000427638:S326C	ENSP00000273854:S326C	S	-	1	0	EPHA5	66043791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.608000	0.82898	2.263000	0.75096	0.377000	0.23210	AGT		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
FGB	2244	broad.mit.edu	37	4	155490852	155490852	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:155490852C>T	ENST00000302068.4	+	7	1208	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.A163V	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	382	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCGGTAATGCCCTCATGGAT	0.473																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1144-1146)gCc>gTc		Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	Sucralfate(DB00364)						151.0	121.0	131.0					4																	155490852		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490852C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1145C>T	4.37:g.155490852C>T	ENSP00000306099:p.Ala382Val					FGB_uc010ipv.3_Missense_Mutation_p.A323V	p.A382V	NM_005141	NP_005132	P02675	FIBB_HUMAN			6	1184	+	all_hematologic(180;0.215)	Renal(120;0.0458)	382			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1145C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491716	0.84962	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.82803	-1.65;-1.65	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.208574	0.49916	D	0.000128	D	0.93245	0.7848	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.93693	0.7009	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	365;382	B4E1D3;P02675	.;FIBB_HUMAN	V	382;365;163	ENSP00000306099:A382V;ENSP00000426757:A163V	ENSP00000306099:A382V	A	+	2	0	FGB	155710302	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.067000	0.71193	2.861000	0.98227	0.655000	0.94253	GCC		0.473	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
PALLD	23022	broad.mit.edu	37	4	169824985	169824985	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:169824985C>A	ENST00000505667.1	+	15	2723	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	PALLD_ENST00000507735.1_Silent_p.T346T|PALLD_ENST00000512127.1_Silent_p.T451T|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Silent_p.T833T|PALLD_ENST00000335742.7_Silent_p.T675T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1057	Interaction with ACTN.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCGATGGGACCTGCTCCCTCC	0.438									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2548-2550)acC>acA		Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.							114.0	112.0	113.0					4																	169824985		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169824985C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2550C>A	4.37:g.169824985C>A						CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.T833T|PALLD_uc003irv.3_Silent_p.T451T|PALLD_uc003irw.3_Silent_p.T346T|PALLD_uc003irx.3_Silent_p.T59T	p.T850T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	14	2761	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1057			Interaction with ACTN.|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.2550C>A	CCDS54818.1																																																																																				0.438	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
ADAMTS16	170690	broad.mit.edu	37	5	5200249	5200249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:5200249G>T	ENST00000274181.7	+	9	1456	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G440C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	440	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						tcATAGCTTTGGCATGATTCA	0.438																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1318-1320)Ggc>Tgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							40.0	40.0	40.0					5																	5200249		1933	4132	6065	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200249G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1318G>T	5.37:g.5200249G>T	ENSP00000274181:p.Gly440Cys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	p.G440C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			8	1456	+			440			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1318G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475422	0.84640	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.99194	-5.54;-5.54	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97365	3.99	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	0.97774	1.0228	10	0.87932	D	0	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	440;440;440	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	440	ENSP00000274181:G440C;ENSP00000421631:G440C	ENSP00000274181:G440C	G	+	1	0	ADAMTS16	5253249	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.122000	0.94380	2.535000	0.85469	0.655000	0.94253	GGC		0.438	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
CDH18	1016	broad.mit.edu	37	5	19503108	19503108	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:19503108G>C	ENST00000507958.1	-	13	2613	c.1623C>G	c.(1621-1623)gaC>gaG	p.D541E	CDH18_ENST00000506372.1_Missense_Mutation_p.D541E|CDH18_ENST00000382275.1_Missense_Mutation_p.D541E|CDH18_ENST00000511273.1_Missense_Mutation_p.D541E|CDH18_ENST00000274170.4_Missense_Mutation_p.D541E|CDH18_ENST00000502796.1_Missense_Mutation_p.D541E			Q13634	CAD18_HUMAN	cadherin 18, type 2	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCTTCATTGTCCTTCAGAG	0.353																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1621-1623)gaC>gaG		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							110.0	102.0	105.0					5																	19503108		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503108G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1623C>G	5.37:g.19503108G>C	ENSP00000425093:p.Asp541Glu					CDH18_uc011cnm.2_Missense_Mutation_p.D541E|CDH18_uc003jgc.3_Missense_Mutation_p.D541E|CDH18_uc021xwu.1_Missense_Mutation_p.D541E	p.D541E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			10	2157	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		541			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1623C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476901	0.63849	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.60299	0.82;0.82;0.82;0.24;0.2;2.15	5.18	3.4	0.38934	Cadherin (4);Cadherin-like (1);	0.049959	0.85682	D	0.000000	T	0.64080	0.2566	L	0.56340	1.77	0.36541	D	0.871282	P;D	0.56521	0.903;0.976	P;P	0.62089	0.459;0.898	T	0.66830	-0.5824	9	.	.	.	.	7.3396	0.26630	0.3342:0.0:0.6658:0.0	.	541;541	B4DHG6;Q13634	.;CAD18_HUMAN	E	541	ENSP00000371710:D541E;ENSP00000425093:D541E;ENSP00000274170:D541E;ENSP00000424931:D541E;ENSP00000422138:D541E;ENSP00000425854:D541E	.	D	-	3	2	CDH18	19538865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.637000	0.54324	0.698000	0.31739	-0.142000	0.14014	GAC		0.353	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PRDM9	56979	broad.mit.edu	37	5	23522791	23522791	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:23522791G>T	ENST00000296682.3	+	8	861	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	227					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTTGTAAAGGACAGTGCAGT	0.552										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(679-681)Gac>Tac		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							52.0	51.0	51.0					5																	23522791		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522791G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.679G>T	5.37:g.23522791G>T	ENSP00000296682:p.Asp227Tyr	HNSCC(3;0.000094)					p.D227Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	861	+			227					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.679G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705171	0.68615	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.56611	0.45	4.28	4.28	0.50868	.	0.000000	0.36134	N	0.002767	T	0.75817	0.3901	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.81328	-0.0982	10	0.87932	D	0	-39.3078	12.6273	0.56636	0.0:0.0:1.0:0.0	.	227	Q9NQV7	PRDM9_HUMAN	Y	227;21	ENSP00000296682:D227Y	ENSP00000253473:D21Y	D	+	1	0	PRDM9	23558548	1.000000	0.71417	0.273000	0.24645	0.821000	0.46438	4.535000	0.60629	2.095000	0.63458	0.597000	0.82753	GAC		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
NIPBL	25836	broad.mit.edu	37	5	37064646	37064646	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:37064646A>G	ENST00000282516.8	+	47	8566	c.8067A>G	c.(8065-8067)aaA>aaG	p.K2689K		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2689					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGGTCAAAACGAAATTCAG	0.378																																						uc003jkl.4																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8065-8067)aaA>aaG		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							86.0	85.0	85.0					5																	37064646		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064646A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8067A>G	5.37:g.37064646A>G						NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	p.K2689K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8566	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2689					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.8067A>G	CCDS3920.1																																																																																				0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C9	735	broad.mit.edu	37	5	39288825	39288825	+	Splice_Site	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:39288825C>A	ENST00000263408.4	-	10	1740	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	549					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTGTCCTCACCTTCAGAAATT	0.333																																						uc003jlv.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e10+1		Homo sapiens complement component 9 (C9), mRNA.							89.0	86.0	87.0					5																	39288825		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39288825C>A		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.1645+1G>T	5.37:g.39288825C>A							p.G549_splice	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		10	1734	-	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)	549						Nonsense_Mutation	SNP	ENST00000263408.4	37	c.1645_splice	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295859	0.81025	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.79	4.92	0.64577	.	1.892250	0.03467	N	0.213024	.	.	.	.	.	.	0.40414	D	0.979776	.	.	.	.	.	.	.	.	.	.	.	.	.	17.256	9.4417	0.38673	0.1444:0.784:0.0:0.0716	.	.	.	.	X	549	.	.	G	-	1	0	C9	39324582	1.000000	0.71417	0.965000	0.40720	0.027000	0.11550	3.299000	0.51826	1.442000	0.47568	0.655000	0.94253	GGA		0.333	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Nonsense_Mutation
SETD9	133383	broad.mit.edu	37	5	56207282	56207282	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:56207282A>G	ENST00000285947.2	+	2	771	c.385A>G	c.(385-387)Agc>Ggc	p.S129G	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Missense_Mutation_p.S129G|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	129	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										CCAAGCAACTAGCTCATTGAT	0.403																																						uc003jqx.3																			0											c.(385-387)Agc>Ggc		Homo sapiens chromosome 5 open reading frame 35 (C5orf35), transcript variant 1, mRNA.							100.0	103.0	102.0					5																	56207282		2203	4300	6503	SO:0001583	missense	133383							g.chr5:56207282A>G	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.385A>G	5.37:g.56207282A>G	ENSP00000285947:p.Ser129Gly					SETD9_uc021xyu.1_Missense_Mutation_p.S129G	p.S129G	NM_153706	NP_714917	Q8NE22	CE035_HUMAN			1	771	+			129					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.385A>G	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999751	0.74818	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.45668	0.89;1.06	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.79123	2.44	0.53688	D	0.999979	D	0.89917	1.0	D	0.70227	0.968	T	0.67360	-0.5690	10	0.48119	T	0.1	1.7246	15.0363	0.71751	1.0:0.0:0.0:0.0	.	129	Q8NE22	CE035_HUMAN	G	129	ENSP00000285947:S129G;ENSP00000442886:S129G	ENSP00000285947:S129G	S	+	1	0	C5orf35	56243039	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.457000	0.90361	1.969000	0.57287	0.533000	0.62120	AGC		0.403	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706	
MTX3	345778	broad.mit.edu	37	5	79279592	79279592	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:79279592G>A	ENST00000512528.1	-	9	874	c.854C>T	c.(853-855)cCt>cTt	p.P285L	MTX3_ENST00000512560.1_Missense_Mutation_p.P224L|MTX3_ENST00000509852.1_3'UTR			Q5HYI7	MTX3_HUMAN	metaxin 3	285					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGGAAGCTGAGGGCTTTGGCG	0.463																																						uc010jag.3																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7						c.(853-855)cCt>cTt		Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.							123.0	124.0	124.0					5																	79279592		2021	4180	6201	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79279592G>A	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.854C>T	5.37:g.79279592G>A	ENSP00000424798:p.Pro285Leu					MTX3_uc010jah.3_3'UTR|MTX3_uc003kge.4_Missense_Mutation_p.P224L	p.P285L	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	8	881	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	285					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.854C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.061444	0.93846	.	.	ENSG00000177034	ENST00000512560;ENST00000512528	T;T	0.66638	-0.22;0.05	6.06	6.06	0.98353	.	.	.	.	.	T	0.76772	0.4034	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76908	-0.2785	9	0.66056	D	0.02	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	285	Q5HYI7	MTX3_HUMAN	L	224;285	ENSP00000423600:P224L;ENSP00000424798:P285L	ENSP00000424798:P285L	P	-	2	0	MTX3	79315348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.556000	0.90697	2.879000	0.98667	0.650000	0.86243	CCT		0.463	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	
SLC23A1	9963	broad.mit.edu	37	5	138716553	138716553	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:138716553C>A	ENST00000348729.3	-	4	377	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.A111S	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	111					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AATGCAAAGGCACTGGCCTGG	0.602																																						uc003leg.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(331-333)Gcc>Tcc		Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	Vitamin C(DB00126)						14.0	14.0	14.0					5																	138716553		2196	4297	6493	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138716553C>A	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.331G>T	5.37:g.138716553C>A	ENSP00000302701:p.Ala111Ser					SLC23A1_uc003leh.3_Missense_Mutation_p.A111S	p.A111S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	428	-			111					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.331G>T	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670821	0.88348	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000453898	T;T	0.10477	2.87;2.87	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.13072	0.0317	N	0.10733	0.035	0.80722	D	1	D;B	0.89917	1.0;0.072	D;B	0.91635	0.999;0.076	T	0.06698	-1.0812	10	0.02654	T	1	-5.7074	16.1656	0.81754	0.0:1.0:0.0:0.0	.	111;111	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	S	111	ENSP00000302851:A111S;ENSP00000302701:A111S	ENSP00000302701:A111S	A	-	1	0	SLC23A1	138744452	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.629000	0.83207	2.677000	0.91161	0.561000	0.74099	GCC		0.602	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
KIF4B	285643	broad.mit.edu	37	5	154396908	154396908	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:154396908C>A	ENST00000435029.4	+	1	3649	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1163	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTGCCACCCCCAATAGCA	0.532																																						uc010jih.1																			0		p.A1162S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3487-3489)acC>acA		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							90.0	92.0	91.0					5																	154396908		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396908C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3489C>A	5.37:g.154396908C>A							p.T1163T	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3649	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1163			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3489C>A	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
FAM217A	222826	broad.mit.edu	37	6	4068936	4068938	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:4068936_4068938delTTG	ENST00000274673.3	-	7	1922_1924	c.1519_1521delCAA	c.(1519-1521)caadel	p.Q507del	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	507																	AGAGTTATTTTTGTTCAATGGGT	0.36																																						uc003mvx.3																			0											c.(1519-1521)caadel		Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.																																				SO:0001651	inframe_deletion	222826							g.chr6:4068936_4068938delTTG	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1519_1521delCAA	6.37:g.4068936_4068938delTTG	ENSP00000274673:p.Gln507del					FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_In_Frame_Del_p.Q444del	p.Q507del	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN			6	1925_1927	-			507					Q5JYK1	In_Frame_Del	DEL	ENST00000274673.3	37	c.1519_1521delCAA	CCDS4489.1																																																																																				0.360	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563	
CFB	629	broad.mit.edu	37	6	31915244	31915244	+	Missense_Mutation	SNP	C	C	T	rs537478097		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:31915244C>T	ENST00000425368.2	+	4	1117	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CFB_ENST00000456570.1_Missense_Mutation_p.R704W|CFB_ENST00000556679.1_Missense_Mutation_p.R704W|CFB_ENST00000477310.1_Missense_Mutation_p.R553W	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	202	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCAGCGGCGAACGTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19054	0.0		0.001	False		,,,				2504	0.0					uc003nyj.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(604-606)Cgg>Tgg		Homo sapiens complement factor B (CFB), mRNA.							96.0	92.0	93.0					6																	31915244		1509	2708	4217	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915244C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.604C>T	6.37:g.31915244C>T	ENSP00000416561:p.Arg202Trp					CFB_uc011dor.2_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	p.R202W	NM_001710	NP_001701	P00751	CFAB_HUMAN			3	882	+			202			Sushi 3.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.604C>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609917	0.66558	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.17	2.06	0.26882	Complement control module (2);Sushi/SCR/CCP (3);	1.503290	0.04097	N	0.312167	T	0.64746	0.2626	M	0.74881	2.28	0.22457	N	0.999088	D;D;D	0.76494	0.999;0.979;0.999	P;P;P	0.60949	0.881;0.67;0.788	T	0.42849	-0.9427	10	0.72032	D	0.01	-1.7706	7.9687	0.30115	0.4737:0.386:0.1403:0.0	.	704;202;202	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	W	704;202;704;553	ENSP00000451848:R704W;ENSP00000416561:R202W;ENSP00000410815:R704W;ENSP00000418996:R553W	ENSP00000416561:R202W	R	+	1	2	CFB;XXbac-BPG116M5.17	32023223	0.127000	0.22367	0.964000	0.40570	0.955000	0.61496	0.836000	0.27545	0.708000	0.31955	0.655000	0.94253	CGG		0.632	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
PSMB8	5696	broad.mit.edu	37	6	32806007	32806007	+	IGR	SNP	G	G	A	rs61736918	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:32806007G>A	ENST00000374882.3	-	0	1124				TAP2_ENST00000452392.2_Missense_Mutation_p.R2W|TAP2_ENST00000374897.2_Missense_Mutation_p.R2W|TAP2_ENST00000374899.4_Missense_Mutation_p.R2W	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCAGGGAGCCGCATGGCTCTG	0.622													G|||	27	0.00539137	0.0136	0.0086	5008	,	,		11969	0.0		0.003	False		,,,				2504	0.0				NSCLC(48;53 1172 10859 13624 22883)	uc011dqf.1																			0											c.(4-6)Cgg>Tgg		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG	38,2982		0,38,1472	40.0	39.0	40.0		4,4	-5.5	0.0	6	dbSNP_129	40	4,5414		0,4,2705	yes	missense,missense	TAP2	NM_018833.2,NM_000544.3	101,101	0,42,4177	AA,AG,GG		0.0738,1.2583,0.4977	benign,benign	2/654,2/704	32806007	42,8396	1510	2709	4219	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32806007G>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32806007G>A						TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003occ.3_Missense_Mutation_p.R2W|TAP2_uc003ocd.3_Missense_Mutation_p.R2W	p.R2W	NM_018833	NP_061313	Q03519	TAP2_HUMAN			1	126	-			2					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.4C>T	CCDS4757.1	6	0.0027472527472527475	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	14.02	2.410778	0.42817	0.012583	7.38E-4	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;T	0.90261	-2.64;-2.63;-0.28	4.66	-5.5	0.02576	.	.	.	.	.	T	0.74099	0.3672	L	0.54323	1.7	0.09310	N	1.0	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.58358	-0.7650	8	0.62326	D	0.03	-1.4251	5.8973	0.18947	0.1532:0.5339:0.2076:0.1052	.	2;3;2;2	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	W	2	ENSP00000364034:R2W;ENSP00000364032:R2W;ENSP00000391806:R2W	ENSP00000364032:R2W	R	-	1	2	XXbac-BPG246D15.9;TAP2	32913985	0.063000	0.20901	0.015000	0.15790	0.049000	0.14656	0.086000	0.14935	-1.158000	0.02811	-0.163000	0.13421	CGG		0.622	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919	
LEMD2	221496	broad.mit.edu	37	6	33740529	33740529	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:33740529C>A	ENST00000293760.5	-	9	1407	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	LEMD2_ENST00000508327.1_Missense_Mutation_p.R161L	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	463					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)		p.R463Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCACAGCTCGGTCCCAGAC	0.627																																						uc011drm.2																			1	Substitution - Missense(1)	p.R463Q(2)	endometrium(1)	central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1387-1389)cGa>cTa		Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.							58.0	47.0	51.0					6																	33740529		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33740529C>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1388G>T	6.37:g.33740529C>A	ENSP00000293760:p.Arg463Leu					LEMD2_uc010jvg.3_Missense_Mutation_p.R172L|LEMD2_uc011drl.2_Missense_Mutation_p.R161L	p.R463L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			8	1401	-			463					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1388G>T	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157815	0.94686	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.35	5.35	0.76521	Inner nuclear membrane protein MAN1 (1);	0.100494	0.43260	D	0.000590	T	0.73885	0.3644	M	0.62723	1.935	0.47441	D	0.999425	D;D	0.76494	0.999;0.979	D;D	0.76071	0.987;0.931	T	0.76353	-0.2990	9	0.72032	D	0.01	-3.5656	19.064	0.93103	0.0:1.0:0.0:0.0	.	463;424	Q8NC56;A8MS91	LEMD2_HUMAN;.	L	45;463;161	.	ENSP00000293760:R463L	R	-	2	0	LEMD2	33848507	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.223000	0.51231	2.477000	0.83638	0.563000	0.77884	CGA		0.627	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338	
PGK2	5232	broad.mit.edu	37	6	49754282	49754282	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:49754282G>T	ENST00000304801.3	-	1	771	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	207					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCAGAAAGGGTCTCACTGGG	0.428																																						uc003ozu.3																			0		p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(619-621)Ccc>Acc		Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.							114.0	112.0	113.0					6																	49754282		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754282G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.619C>A	6.37:g.49754282G>T	ENSP00000305995:p.Pro207Thr						p.P207T	NM_138733	NP_620061	P07205	PGK2_HUMAN			0	772	-	Lung NSC(77;0.0402)		207					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.619C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595413	0.66219	.	.	ENSG00000170950	ENST00000304801	D	0.97688	-4.49	4.09	4.09	0.47781	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98027	4.13	0.80722	D	1	D	0.54047	0.964	D	0.65233	0.933	D	0.98710	1.0704	10	0.87932	D	0	-13.9904	14.5839	0.68310	0.0:0.0:1.0:0.0	.	207	P07205	PGK2_HUMAN	T	207	ENSP00000305995:P207T	ENSP00000305995:P207T	P	-	1	0	PGK2	49862241	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	7.506000	0.81665	2.562000	0.86427	0.585000	0.79938	CCC		0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
GOPC	57120	broad.mit.edu	37	6	117892118	117892118	+	Splice_Site	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:117892118C>A	ENST00000368498.2	-	6	892	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	GOPC_ENST00000535237.1_Splice_Site_p.D273Y|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Splice_Site_p.D265Y	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	273					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GAATCTTGATCCTTATTGGGA	0.328			O	ROS1	glioblastoma																																	uc003pxu.3				Dom	yes		6	6q21	57120	T	golgi associated PDZ and coiled-coil motif containing			O	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e6-1		Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.							108.0	107.0	107.0					6																	117892118		2203	4297	6500	SO:0001630	splice_region_variant	57120				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117892118C>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.817-1G>T	6.37:g.117892118C>A						ROS1_uc003pxq.1_Splice_Site_p.D46_splice|ROS1_uc003pxv.3_Splice_Site_p.D265_splice	p.D273_splice	NM_020399	NP_065132	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	6	1071	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	0			Fibronectin type-III 2.		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.817_splice	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161705	0.57368	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.18338	2.22;2.24;2.23	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.139018	0.64402	D	0.000006	T	0.20414	0.0491	L	0.53249	1.67	0.80722	D	1	P;P;D	0.57257	0.804;0.94;0.979	B;B;P	0.53809	0.283;0.332;0.735	T	0.00305	-1.1831	10	0.87932	D	0	-7.1698	14.1845	0.65595	0.0:0.9287:0.0:0.0713	.	265;273;273	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	Y	265;273;273	ENSP00000052569:D265Y;ENSP00000357484:D273Y;ENSP00000445690:D273Y	ENSP00000052569:D265Y	D	-	1	0	GOPC	117998811	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.294000	0.65687	2.740000	0.93945	0.557000	0.71058	GAT		0.328	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	Missense_Mutation
UTRN	7402	broad.mit.edu	37	6	145103130	145103130	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:145103130T>C	ENST00000367545.3	+	60	8705	c.8705T>C	c.(8704-8706)cTc>cCc	p.L2902P	UTRN_ENST00000367526.4_Missense_Mutation_p.L457P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2902	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACCAGCTCCTCAGTGTTCCA	0.403																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8704-8706)cTc>cCc		Homo sapiens utrophin (UTRN), mRNA.							123.0	114.0	117.0					6																	145103130		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145103130T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8705T>C	6.37:g.145103130T>C	ENSP00000356515:p.Leu2902Pro						p.L2902P	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	59	8797	+		Ovarian(120;0.218)	2902			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8705T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487139	0.84854	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.68765	-0.35;-0.35	5.62	5.62	0.85841	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.147163	0.31772	N	0.007086	T	0.67581	0.2908	M	0.72353	2.195	0.80722	D	1	P	0.36599	0.56	P	0.46208	0.507	T	0.73515	-0.3958	10	0.87932	D	0	.	15.8208	0.78644	0.0:0.0:0.0:1.0	.	2902	P46939	UTRO_HUMAN	P	2902;457	ENSP00000356515:L2902P;ENSP00000356496:L457P	ENSP00000356496:L457P	L	+	2	0	UTRN	145144823	0.978000	0.34361	0.567000	0.28434	0.989000	0.77384	6.201000	0.72124	2.142000	0.66516	0.528000	0.53228	CTC		0.403	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
ESR1	2099	broad.mit.edu	37	6	152163775	152163775	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:152163775G>T	ENST00000206249.3	+	2	858	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.A166S|ESR1_ENST00000338799.5_Missense_Mutation_p.A166S|ESR1_ENST00000456483.2_Missense_Mutation_p.A166S|ESR1_ENST00000443427.1_Missense_Mutation_p.A166S|ESR1_ENST00000427531.2_5'UTR	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	166	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	AGAAAGATTGGCCAGTACCAA	0.453																																						uc010kio.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(496-498)Gcc>Tcc		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						96.0	84.0	88.0					6																	152163775		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163775G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.496G>T	6.37:g.152163775G>T	ENSP00000206249:p.Ala166Ser					ESR1_uc021zgx.1_Missense_Mutation_p.A166S|ESR1_uc021zgy.1_Non-coding_Transcript|ESR1_uc003qom.4_Missense_Mutation_p.A166S|ESR1_uc010kin.3_Missense_Mutation_p.A166S|ESR1_uc010kip.3_Missense_Mutation_p.A166S|ESR1_uc003qon.4_Missense_Mutation_p.A166S|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.A166S|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_5'UTR|ESR1_uc011eew.2_5'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_5'UTR|ESR1_uc021zha.1_5'Flank	p.A166S	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	2	714	+		Ovarian(120;0.0448)	166			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.496G>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.317|2.317	-0.356492|-0.356492	0.05138|0.05138	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000431590|ENST00000427531	T;T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75;1.75|.	6.05|6.05	3.24|3.24	0.37175|0.37175	.|.	0.338031|.	0.35739|.	N|.	0.003013|.	T|T	0.08935|0.08935	0.0221|0.0221	N|N	0.03084|0.03084	-0.415|-0.415	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.17979|.	0.02;0.003;0.006|.	T|T	0.10567|0.10567	-1.0624|-1.0624	10|5	0.06625|.	T|.	0.88|.	.|.	6.315|6.315	0.21186|0.21186	0.1401:0.0:0.3874:0.4724|0.1401:0.0:0.3874:0.4724	.|.	166;166;166|.	A8KAF4;G4XH65;P03372|.	.;.;ESR1_HUMAN|.	S|C	166;166;166;166;166;94|70	ENSP00000405330:A166S;ENSP00000342630:A166S;ENSP00000415934:A166S;ENSP00000387500:A166S;ENSP00000206249:A166S|.	ENSP00000206249:A166S|.	A|W	+|+	1|3	0|0	ESR1|ESR1	152205468|152205468	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.871000|0.871000	0.50021|0.50021	0.724000|0.724000	0.25954|0.25954	0.405000|0.405000	0.25532|0.25532	-0.188000|-0.188000	0.12872|0.12872	GCC|TGG		0.453	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
TIAM2	26230	broad.mit.edu	37	6	155451173	155451173	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:155451173G>T	ENST00000461783.3	+	6	2089	c.816G>T	c.(814-816)atG>atT	p.M272I	TIAM2_ENST00000456144.1_Missense_Mutation_p.M272I|TIAM2_ENST00000529824.2_Missense_Mutation_p.M272I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M272I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M272I|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	272					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)			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)		CCCCCGGCATGCCTGACCCCA	0.597																																						uc003qqb.3																			0				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						c.(814-816)atG>atT		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							57.0	56.0	56.0					6																	155451173		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.chr6:155451173G>T		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.816G>T	6.37:g.155451173G>T	ENSP00000437188:p.Met272Ile					TIAM2_uc003qqe.3_Missense_Mutation_p.M272I	p.M272I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	5	2089	+		Ovarian(120;0.196)	272					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.816G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	6.714	0.500352	0.12762	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04654	3.69;3.58;3.64;3.69;3.69;3.64	5.09	-3.89	0.04193	.	0.351156	0.28343	N	0.015692	T	0.00637	0.0021	N	0.14661	0.345	0.21802	N	0.99953	B	0.10296	0.003	B	0.11329	0.006	T	0.44406	-0.9330	10	0.30078	T	0.28	.	2.2582	0.04060	0.167:0.3956:0.1591:0.2783	.	272	Q8IVF5	TIAM2_HUMAN	I	272;518;272;272;272;272;272	ENSP00000437188:M272I;ENSP00000434901:M272I;ENSP00000407746:M272I;ENSP00000327315:M272I;ENSP00000353528:M272I;ENSP00000433348:M272I	ENSP00000327315:M272I	M	+	3	0	TIAM2	155492865	0.011000	0.17503	0.000000	0.03702	0.067000	0.16453	-0.731000	0.04909	-0.618000	0.05656	-0.137000	0.14449	ATG		0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
IGF2R	3482	broad.mit.edu	37	6	160445736	160445736	+	Splice_Site	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:160445736G>T	ENST00000356956.1	+	5	794	c.646G>T	c.(646-648)Gac>Tac	p.D216Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	216					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGAGACATAGGTATGAATCT	0.438																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e5+1		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							118.0	107.0	111.0					6																	160445736		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160445736G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.646+1G>T	6.37:g.160445736G>T							p.D216_splice	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	5	794	+		Breast(66;0.000777)|Ovarian(120;0.0305)	216					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.646_splice	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700523	0.68501	.	.	ENSG00000197081	ENST00000356956	T	0.02085	4.46	5.62	5.62	0.85841	Mannose-6-phosphate receptor, binding (1);	0.412810	0.30464	N	0.009562	T	0.06005	0.0156	M	0.78223	2.4	0.50813	D	0.999896	P	0.48503	0.911	P	0.52267	0.694	T	0.11717	-1.0576	10	0.56958	D	0.05	-4.0139	19.6574	0.95849	0.0:0.0:1.0:0.0	.	216	P11717	MPRI_HUMAN	Y	216	ENSP00000349437:D216Y	ENSP00000349437:D216Y	D	+	1	0	IGF2R	160365726	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.372000	0.66156	2.645000	0.89757	0.462000	0.41574	GAC		0.438	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	Missense_Mutation
AP5Z1	9907	broad.mit.edu	37	7	4830771	4830771	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:4830771A>G	ENST00000348624.4	+	17	2273	c.2179A>G	c.(2179-2181)Agg>Ggg	p.R727G	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	727					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTCAAAGATGAGGACCCTGGC	0.637																																						uc003sne.3																			0											c.(2179-2181)Agg>Ggg		Homo sapiens KIAA0415 (KIAA0415), mRNA.							29.0	37.0	34.0					7																	4830771		2065	4213	6278	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830771A>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2179A>G	7.37:g.4830771A>G	ENSP00000297562:p.Arg727Gly					AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Missense_Mutation_p.R204G|MIR4656_uc021zzb.1_5'Flank	p.R727G	NM_014855	NP_055670	O43299	K0415_HUMAN			16	2264	+			727					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2179A>G	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685380	0.68157	.	.	ENSG00000242802	ENST00000348624	T	0.64803	-0.12	5.26	2.77	0.32553	Armadillo-like helical (1);	.	.	.	.	T	0.76891	0.4051	M	0.77820	2.39	0.80722	D	1	D;P	0.89917	1.0;0.824	D;P	0.83275	0.996;0.473	T	0.76130	-0.3072	9	0.56958	D	0.05	.	11.526	0.50580	0.5335:0.4664:0.0:0.0	.	1438;727	A4D1Z4;O43299	.;K0415_HUMAN	G	727	ENSP00000297562:R727G	ENSP00000297562:R727G	R	+	1	2	KIAA0415	4797297	1.000000	0.71417	0.969000	0.41365	0.808000	0.45660	1.519000	0.35888	0.270000	0.21984	0.523000	0.50628	AGG		0.637	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
STARD3NL	83930	broad.mit.edu	37	7	38254036	38254039	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38254036_38254039delGTAA	ENST00000009041.7	+	3	560		c.e3+1		STARD3NL_ENST00000544203.1_Splice_Site|STARD3NL_ENST00000396013.1_Splice_Site|STARD3NL_ENST00000434197.1_Splice_Site	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like							endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGATATATTTGTAAGTATTTTTTA	0.338																																						uc003tfr.3																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.e3+1		Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.																																				SO:0001630	splice_region_variant	83930					integral to membrane|late endosome membrane		g.chr7:38254036_38254039delGTAA	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.303+1GTAA>-	7.37:g.38254036_38254039delGTAA							p.F101_splice	NM_032016	NP_114405	O95772	MENTO_HUMAN			3	576	+			101			MENTAL.		A4D1X0	Splice_Site	DEL	ENST00000009041.7	37	c.303_splice	CCDS5455.1																																																																																				0.338	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		Intron
AMPH	273	broad.mit.edu	37	7	38516553	38516553	+	Missense_Mutation	SNP	C	C	T	rs375161752		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38516553C>T	ENST00000356264.2	-	6	628	c.413G>A	c.(412-414)cGc>cAc	p.R138H	AMPH_ENST00000428293.2_Missense_Mutation_p.R138H|AMPH_ENST00000325590.5_Missense_Mutation_p.R138H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTGCTGCGCTTGGCGAT	0.502																																						uc003tgu.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(412-414)cGc>cAc		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	116.0	100.0	106.0		413,413	5.5	1.0	7		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	138/696,138/654	38516553	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38516553C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.413G>A	7.37:g.38516553C>T	ENSP00000348602:p.Arg138His					AMPH_uc003tgv.3_Missense_Mutation_p.R138H	p.R138H	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	629	-			138			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.413G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990896	0.93106	0.0	1.16E-4	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.71222	-0.55;-0.55;-0.55	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87679	0.2546	10	0.72032	D	0.01	-12.9834	18.5675	0.91121	0.0:1.0:0.0:0.0	.	138;138	P49418-2;P49418	.;AMPH_HUMAN	H	138	ENSP00000317441:R138H;ENSP00000348602:R138H;ENSP00000390734:R138H	ENSP00000317441:R138H	R	-	2	0	AMPH	38483078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.790000	0.75115	2.757000	0.94681	0.585000	0.79938	CGC		0.502	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
C7orf25	79020	broad.mit.edu	37	7	42949845	42949845	+	Missense_Mutation	SNP	G	G	C	rs372947878		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:42949845G>C	ENST00000350427.4	-	2	930	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V	C7orf25_ENST00000438029.1_Missense_Mutation_p.L219V|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.L219V|C7orf25_ENST00000431882.2_Missense_Mutation_p.L277V			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	219										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACCTGCAAAAGTTCAGGGCCC	0.438																																						uc003thx.4																			0		p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(829-831)Ctt>Gtt		Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.		G	VAL/LEU,VAL/LEU	0,4406		0,0,2203	70.0	70.0	70.0		829,655	3.7	1.0	7		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf25	NM_001099858.1,NM_024054.2	32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	277/480,219/422	42949845	1,13005	2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949845G>C	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.655C>G	7.37:g.42949845G>C	ENSP00000343364:p.Leu219Val					C7orf25_uc010kxq.3_Missense_Mutation_p.L219V|C7orf25_uc010kxr.3_Missense_Mutation_p.L277V|C7orf25_uc022ace.1_Missense_Mutation_p.L219V	p.L277V	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN			1	1314	-			219					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.829C>G	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261809	0.10239	0.0	1.16E-4	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.65	3.74	0.42951	.	0.492077	0.17650	N	0.166713	T	0.22475	0.0542	N	0.12182	0.205	0.26548	N	0.97396	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.11012	-1.0605	10	0.29301	T	0.29	-1.7145	7.6435	0.28307	0.1912:0.1291:0.6798:0.0	.	277;219	B4DQM3;Q9BPX7	.;CG025_HUMAN	V	219;219;277;219	ENSP00000343364:L219V;ENSP00000413029:L219V;ENSP00000416290:L277V;ENSP00000396597:L219V	ENSP00000343364:L219V	L	-	1	0	C7orf25	42916370	0.011000	0.17503	1.000000	0.80357	0.951000	0.60555	1.094000	0.30951	1.407000	0.46875	0.556000	0.70494	CTT		0.438	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
ADCY1	107	broad.mit.edu	37	7	45632382	45632382	+	Missense_Mutation	SNP	G	G	A	rs369079165		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:45632382G>A	ENST00000297323.7	+	2	686	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	222					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTGCTCTTCGTCGGTGTGAA	0.592																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(664-666)Gtc>Atc		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						237.0	193.0	208.0					7																	45632382		2203	4300	6503	SO:0001583	missense	107				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45632382G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.664G>A	7.37:g.45632382G>A	ENSP00000297323:p.Val222Ile					ADCY1_uc003tnd.3_5'UTR	p.V222I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			1	682	+			222					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.664G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	2.139	-0.397205	0.04899	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.78246	-1.16	5.06	2.12	0.27331	.	0.473604	0.21911	N	0.067318	T	0.62282	0.2415	L	0.33485	1.01	0.28250	N	0.9253	B	0.18166	0.026	B	0.12837	0.008	T	0.46512	-0.9186	10	0.19147	T	0.46	.	7.8718	0.29571	0.0:0.1712:0.5411:0.2877	.	222	Q08828	ADCY1_HUMAN	I	222	ENSP00000297323:V222I	ENSP00000297323:V222I	V	+	1	0	ADCY1	45598907	1.000000	0.71417	0.107000	0.21349	0.233000	0.25261	1.300000	0.33436	0.111000	0.17947	-0.516000	0.04426	GTC		0.592	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
TNS3	64759	broad.mit.edu	37	7	47408183	47408183	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:47408183G>A	ENST00000398879.1	-	17	2426	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TNS3_ENST00000311160.9_Missense_Mutation_p.S687F|TNS3_ENST00000355730.3_Missense_Mutation_p.S447F			Q68CZ2	TENS3_HUMAN	tensin 3	687					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGAGCCTGGGGAGGGGCCTGT	0.622																																						uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2059-2061)tCc>tTc		Homo sapiens tensin 3 (TNS3), mRNA.							143.0	164.0	157.0					7																	47408183		2057	4200	6257	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408183G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2060C>T	7.37:g.47408183G>A	ENSP00000381854:p.Ser687Phe					TNS3_uc022acn.1_Missense_Mutation_p.S244F	p.S687F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			16	2418	-			687					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2060C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.197319	0.01594	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93307	-2.83;-2.83;-3.2;-2.92	5.15	2.92	0.33932	.	2.101730	0.01565	N	0.020291	D	0.89966	0.6868	L	0.54323	1.7	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.75816	-0.3184	10	0.09843	T	0.71	-18.5632	7.839	0.29387	0.2473:0.0:0.7527:0.0	.	687	Q68CZ2	TENS3_HUMAN	F	687;797;687;447;143;790	ENSP00000312143:S687F;ENSP00000381854:S687F;ENSP00000347968:S447F;ENSP00000414358:S790F	ENSP00000312143:S687F	S	-	2	0	TNS3	47374708	0.013000	0.17824	0.150000	0.22450	0.295000	0.27426	2.137000	0.42130	1.281000	0.44480	0.655000	0.94253	TCC		0.622	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
POM121L12	285877	broad.mit.edu	37	7	53103674	53103674	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:53103674G>C	ENST00000408890.4	+	1	326	c.310G>C	c.(310-312)Ggg>Cgg	p.G104R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCTTCCCGGGGAGACCGC	0.721																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(310-312)Ggg>Cgg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							20.0	24.0	23.0					7																	53103674		1956	4116	6072	SO:0001583	missense	285877							g.chr7:53103674G>C		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.310G>C	7.37:g.53103674G>C	ENSP00000386133:p.Gly104Arg						p.G104R	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	326	+			104					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.310G>C	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457413	0.12342	.	.	ENSG00000221900	ENST00000408890	T	0.23147	1.92	2.52	-5.04	0.02964	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	D	0.58970	0.984	P	0.55391	0.775	T	0.07028	-1.0794	9	0.51188	T	0.08	.	0.8276	0.01124	0.1688:0.2097:0.3408:0.2808	.	104	Q8N7R1	P1L12_HUMAN	R	104	ENSP00000386133:G104R	ENSP00000386133:G104R	G	+	1	0	POM121L12	53071168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.708000	0.01891	-1.009000	0.03400	-0.521000	0.04368	GGG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55249121	55249121	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:55249121G>C	ENST00000275493.2	+	20	2596	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D754H|EGFR_ENST00000455089.1_Missense_Mutation_p.D762H|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	807	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D807N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGAACACAAAGACAATATTGG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.K806E(4)|p.D807N(3)|p.K806A(1)	lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2419-2421)Gac>Cac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93.0	81.0	85.0					7																	55249121		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249121G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2419G>C	7.37:g.55249121G>C	ENSP00000275493:p.Asp807His	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.D807H|EGFR_uc010kzg.2_Missense_Mutation_p.D762H|EGFR_uc022adn.1_Missense_Mutation_p.D762H|EGFR_uc011kco.2_Missense_Mutation_p.D754H|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D42H	p.D807H	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2665	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		807			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2419G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128711	0.77549	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82893	-1.66;-1.66;-1.66	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	L	0.37507	1.11	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.81914	0.293;0.995	D	0.88518	0.3094	10	0.87932	D	0	.	18.8719	0.92319	0.0:0.0:1.0:0.0	.	762;807	Q504U8;P00533	.;EGFR_HUMAN	H	762;677;807;754	ENSP00000415559:D762H;ENSP00000275493:D807H;ENSP00000395243:D754H	ENSP00000275493:D807H	D	+	1	0	EGFR	55216615	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.985000	0.88162	2.795000	0.96236	0.655000	0.94253	GAC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
LAT2	7462	broad.mit.edu	37	7	73630358	73630358	+	Missense_Mutation	SNP	T	T	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:73630358T>G	ENST00000460943.1	+	3	942	c.53T>G	c.(52-54)tTg>tGg	p.L18W	LAT2_ENST00000398475.1_Missense_Mutation_p.L18W|LAT2_ENST00000344995.5_Missense_Mutation_p.L18W|LAT2_ENST00000275635.7_Missense_Mutation_p.L18W	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.L18W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTGGTGCTGTTGGGGGTGGCA	0.637																																						uc003uag.3																			1	Substitution - Missense(1)	p.L18W(2)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(52-54)tTg>tGg		Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.							40.0	52.0	48.0					7																	73630358		2160	4255	6415	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73630358T>G	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.53T>G	7.37:g.73630358T>G	ENSP00000420494:p.Leu18Trp					LAT2_uc003uah.3_Missense_Mutation_p.L18W|LAT2_uc003uai.3_Missense_Mutation_p.L18W|LAT2_uc010lbo.3_Non-coding_Transcript	p.L18W	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN			2	603	+			18					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.53T>G	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895640	0.52121	.	.	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	3.49	3.49	0.39957	.	0.220262	0.22235	N	0.062769	T	0.19446	0.0467	L	0.32530	0.975	0.42382	D	0.992496	D	0.89917	1.0	D	0.91635	0.999	T	0.01287	-1.1395	10	0.87932	D	0	-11.0846	8.6821	0.34214	0.0:0.0:0.0:1.0	.	18	Q9GZY6	NTAL_HUMAN	W	18	ENSP00000420549:L18W;ENSP00000344881:L18W;ENSP00000420494:L18W;ENSP00000417533:L18W;ENSP00000381492:L18W;ENSP00000354374:L18W;ENSP00000275635:L18W;ENSP00000419150:L18W	ENSP00000275635:L18W	L	+	2	0	LAT2	73268294	0.998000	0.40836	0.997000	0.53966	0.236000	0.25371	2.829000	0.48128	1.831000	0.53308	0.459000	0.35465	TTG		0.637	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1		
RSBN1L	222194	broad.mit.edu	37	7	77402516	77402516	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:77402516C>T	ENST00000334955.8	+	6	1705	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.R290C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	560						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGAGCCCCGTGAGATGCT	0.383																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1678-1680)Cgt>Tgt		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							96.0	91.0	92.0					7																	77402516		1963	4190	6153	SO:0001583	missense	222194					nucleus		g.chr7:77402516C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1678C>T	7.37:g.77402516C>T	ENSP00000334040:p.Arg560Cys						p.R560C	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			5	1722	+			560					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.1678C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780037	0.90195	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85985	0.1485	9	0.87932	D	0	-12.3534	20.3627	0.98863	0.0:1.0:0.0:0.0	.	560	Q6PCB5	RSBNL_HUMAN	C	560;290;98;66	.	ENSP00000334040:R560C	R	+	1	0	RSBN1L	77240452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.062000	0.71155	2.885000	0.99019	0.655000	0.94253	CGT		0.383	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
AKAP9	10142	broad.mit.edu	37	7	91668077	91668078	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:91668077_91668078insGA	ENST00000359028.2	+	18	4944_4945	c.4719_4720insGA	c.(4720-4722)agafs	p.R1574fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R1562fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R1574fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1574					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)			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)			CATTTATAGTTAGACAGTCTGT	0.287			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0		p.S1561*(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						c.(4681-4686)gttagafs		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91668077_91668078insGA	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	Exception_encountered	7.37:g.91668077_91668078insGA	ENSP00000351922:p.Arg1574fs					AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.3_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.V1186fs	p.V1561fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	4908_4909	+	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)		1573					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.4683_4684insGA																																																																																					0.287	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
ZAN	7455	broad.mit.edu	37	7	100350019	100350019	+	RNA	DEL	A	A	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100350019delA	ENST00000348028.3	+	0	2456				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCCCACAGAAAAACCCACC	0.527																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(2290-2292)gaafs		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							125.0	139.0	135.0					7																	100350019		1818	4065	5883			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350019delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350019delA						ZAN_uc003uwk.3_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.E764fs	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		13	2456	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		764			66 X heptapeptide repeats (approximate) (mucin-like domain).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37	c.2291delA																																																																																					0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAAATGTCGTGGAGCCAA	0.453																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(226-228)gtC>gtT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							101.0	94.0	97.0					7																	100674925		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674925C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.228C>T	7.37:g.100674925C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.V76V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	281	+	Lung NSC(181;0.136)|all_lung(186;0.182)		76					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.228C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PPP1R3A	5506	broad.mit.edu	37	7	113558410	113558410	+	Silent	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:113558410A>C	ENST00000284601.3	-	1	710	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	214	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				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						ATGTACCAACAGAAGTTTCAT	0.353																																						uc010ljy.1																			0				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						c.(640-642)tcT>tcG		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							113.0	111.0	112.0					7																	113558410		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558410A>C	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.642T>G	7.37:g.113558410A>C							p.S214S	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	673	-			214			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.642T>G	CCDS5759.1																																																																																				0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
CALD1	800	broad.mit.edu	37	7	134552504	134552504	+	Missense_Mutation	SNP	G	G	A	rs142583902		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:134552504G>A	ENST00000361675.2	+	3	249	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CALD1_ENST00000361901.2_Missense_Mutation_p.R7H|CALD1_ENST00000361388.2_Missense_Mutation_p.R7H|CALD1_ENST00000422748.1_Missense_Mutation_p.R7H|CALD1_ENST00000417172.1_Missense_Mutation_p.R7H			Q05682	CALD1_HUMAN	caldesmon 1	7					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TTTGAGCGTCGCAGAGAACTT	0.433																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(19-21)cGc>cAc		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	84.0	86.0		20,20,20	5.4	1.0	7	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CALD1	NM_004342.6,NM_033138.3,NM_033157.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	7/539,7/794,7/564	134552504	1,13005	2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134552504G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.20G>A	7.37:g.134552504G>A	ENSP00000354826:p.Arg7His					CALD1_uc003vry.3_Missense_Mutation_p.R7H|CALD1_uc003vsb.3_Missense_Mutation_p.R7H|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R7H	p.R7H	NM_033138	NP_149129	Q05682	CALD1_HUMAN			2	486	+			7					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.20G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065711	0.55539	0.0	1.16E-4	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928	T;T;T;T;T;T	0.60920	1.07;0.15;1.08;1.09;0.62;1.07	5.45	5.45	0.79879	.	0.000000	0.41097	D	0.000947	T	0.67249	0.2873	L	0.27053	0.805	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	0.85130	0.994;0.997;0.997;0.994;0.994	T	0.70945	-0.4734	10	0.72032	D	0.01	1.3183	18.9038	0.92453	0.0:0.0:1.0:0.0	.	7;7;7;7;7	A8K0X1;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;CALD1_HUMAN;.	H	7	ENSP00000398826:R7H;ENSP00000411476:R7H;ENSP00000355000:R7H;ENSP00000395710:R7H;ENSP00000354826:R7H;ENSP00000354513:R7H	ENSP00000355000:R7H	R	+	2	0	CALD1	134203044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.110000	0.77069	2.531000	0.85337	0.655000	0.94253	CGC		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
NUP205	23165	broad.mit.edu	37	7	135311087	135311087	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:135311087C>T	ENST00000285968.6	+	33	4797	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1591					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATGACATGCGCCCAGAAAC	0.423																																						uc003vsw.3																			0		p.R1591H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4771-4773)Cgc>Tgc		Homo sapiens nucleoporin 205kDa (NUP205), mRNA.							100.0	91.0	94.0					7																	135311087		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135311087C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4771C>T	7.37:g.135311087C>T	ENSP00000285968:p.Arg1591Cys						p.R1591C	NM_015135	NP_055950	Q92621	NU205_HUMAN			32	4802	+			1591					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4771C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191763	0.78902	.	.	ENSG00000155561	ENST00000285968	T	0.32753	1.44	5.46	5.46	0.80206	.	0.116195	0.64402	D	0.000014	T	0.49081	0.1536	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.30966	-0.9960	10	0.38643	T	0.18	-0.084	19.292	0.94103	0.0:1.0:0.0:0.0	.	1591	Q92621	NU205_HUMAN	C	1591	ENSP00000285968:R1591C	ENSP00000285968:R1591C	R	+	1	0	NUP205	134961627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.686000	0.54685	2.550000	0.86006	0.591000	0.81541	CGC		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
FAM115A	9747	broad.mit.edu	37	7	143573699	143573699	+	Start_Codon_SNP	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:143573699C>A	ENST00000479870.1	-	2	211	c.3G>T	c.(1-3)atG>atT	p.M1I	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Start_Codon_SNP_p.M1I	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	1										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGGAGTCGCCATGGCTCTAT	0.473																																						uc003wdo.2																			0				NS(1)|endometrium(1)|lung(5)	7						c.(1-3)atG>atT		Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.							58.0	55.0	56.0					7																	143573699		2203	4300	6503	SO:0001582	initiator_codon_variant	9747							g.chr7:143573699C>A	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.3G>T	7.37:g.143573699C>A	ENSP00000419235:p.Met1Ile					FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.M1I	p.M1I	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN			1	136	-	Melanoma(164;0.0903)		1					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	c.3G>T	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575646	0.28092	.	.	ENSG00000198420	ENST00000479870;ENST00000355951;ENST00000460532;ENST00000491908;ENST00000478172;ENST00000485416	.	.	.	4.1	4.1	0.47936	.	0.361143	0.26792	N	0.022477	T	0.64505	0.2604	.	.	.	0.36279	D	0.855669	B	0.30211	0.273	B	0.42214	0.38	T	0.73043	-0.4107	8	0.66056	D	0.02	-30.0782	12.1189	0.53880	0.0:1.0:0.0:0.0	.	1	Q9Y4C2	F115A_HUMAN	I	1	.	ENSP00000348220:M1I	M	-	3	0	FAM115A	143204632	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	3.173000	0.50839	2.574000	0.86865	0.650000	0.86243	ATG		0.473	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719	Missense_Mutation
ANK1	286	broad.mit.edu	37	8	41530099	41530099	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:41530099G>A	ENST00000347528.4	-	38	4952	c.4869C>T	c.(4867-4869)gaC>gaT	p.D1623D	ANK1_ENST00000265709.8_Silent_p.D1664D|ANK1_ENST00000396942.1_Silent_p.D1623D|ANK1_ENST00000379758.2_Silent_p.D1623D|ANK1_ENST00000289734.7_Silent_p.D1623D|ANK1_ENST00000352337.4_Silent_p.D1623D|ANK1_ENST00000396945.1_Silent_p.D1623D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1623	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTGTGTCGTCCTCCACAA	0.562																																						uc003xok.3																			0		p.E1622K(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						c.(4867-4869)gaC>gaT		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							164.0	159.0	161.0					8																	41530099		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:41530099G>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.4869C>T	8.37:g.41530099G>A						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.D1623D|ANK1_uc003xoj.3_Silent_p.D1623D|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.D1664D	p.D1623D	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)		37	4953	-	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)	1623			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4869C>T	CCDS6119.1																																																																																				0.562	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
TRHR	7201	broad.mit.edu	37	8	110131345	110131345	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:110131345G>A	ENST00000518632.1	+	3	1209	c.858G>A	c.(856-858)gtG>gtA	p.V286V	TRHR_ENST00000311762.2_Silent_p.V286V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	286					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGACTCTAGTGGTTGTCAACT	0.418																																						uc003ymz.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(856-858)gtG>gtA		Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.							244.0	240.0	242.0					8																	110131345		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131345G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.858G>A	8.37:g.110131345G>A							p.V286V	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	947	+			286					Q2M339	Silent	SNP	ENST00000518632.1	37	c.858G>A	CCDS6311.1																																																																																				0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
TRPS1	7227	broad.mit.edu	37	8	116599737	116599737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116599737delC	ENST00000220888.5	-	4	2311	c.2152delG	c.(2152-2154)gaafs	p.E718fs	TRPS1_ENST00000395715.3_Frame_Shift_Del_p.E731fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.E472fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.E718fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.E722fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	718	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTCCTGTTCCTGGCAGTGA	0.507									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2191-2193)gaafs		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							155.0	155.0	155.0					8																	116599737		2028	4181	6209	SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599737delC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2152delG	8.37:g.116599737delC	ENSP00000220888:p.Glu718fs					TRPS1_uc011lhy.2_Frame_Shift_Del_p.E722fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.E718fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.E718fs	p.E731fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2769	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		718			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Del	DEL	ENST00000220888.5	37	c.2191delG																																																																																					0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
TRPS1	7227	broad.mit.edu	37	8	116632180	116632180	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116632180C>T	ENST00000220888.5	-	2	265	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TRPS1_ENST00000395715.3_Missense_Mutation_p.E49K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E36K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E36K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E40K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	36					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(145-147)Gaa>Aaa		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							113.0	101.0	105.0					8																	116632180		1862	4124	5986	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632180C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.106G>A	8.37:g.116632180C>T	ENSP00000220888:p.Glu36Lys					TRPS1_uc011lhy.2_Missense_Mutation_p.E40K|TRPS1_uc003ynz.3_Missense_Mutation_p.E36K|TRPS1_uc010mcy.3_Missense_Mutation_p.E36K	p.E49K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	723	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		36					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	C	16.81	3.225484	0.58668	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98835	-5.13;-5.11;-5.17;-5.11;0.69	5.82	5.82	0.92795	.	0.233067	0.36893	N	0.002347	D	0.96473	0.8849	N	0.19112	0.55	0.42771	D	0.993837	B;B;B	0.19817	0.039;0.023;0.007	B;B;B	0.21360	0.034;0.008;0.015	D	0.92772	0.6233	10	0.87932	D	0	-11.592	20.0966	0.97849	0.0:1.0:0.0:0.0	.	40;36;49	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	49;36;36;40;36;49;49;49	ENSP00000379065:E49K;ENSP00000220888:E36K;ENSP00000428910:E36K;ENSP00000428680:E40K;ENSP00000429174:E36K	ENSP00000220888:E36K	E	-	1	0	TRPS1	116701355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.123000	0.57917	2.751000	0.94390	0.650000	0.86243	GAA		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
COMMD5	28991	broad.mit.edu	37	8	146076337	146076337	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:146076337C>T	ENST00000305103.3	-	2	639	c.387G>A	c.(385-387)gtG>gtA	p.V129V	COMMD5_ENST00000402718.3_Silent_p.V129V|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V129V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	129						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCCAAATACCACGCTGGCCA	0.652																																						uc022bcr.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(385-387)gtG>gtA		Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.							13.0	14.0	14.0					8																	146076337		2201	4292	6493	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076337C>T	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.387G>A	8.37:g.146076337C>T						COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Silent_p.V129V|COMMD5_uc003zen.3_Silent_p.V129V|COMMD5_uc003zeo.4_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	p.V129V	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		0	387	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		129					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.387G>A	CCDS6436.1																																																																																				0.652	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066	
PIGO	84720	broad.mit.edu	37	9	35095288	35095288	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:35095288C>A	ENST00000378617.3	-	2	669	c.275G>T	c.(274-276)aGa>aTa	p.R92I	PIGO_ENST00000298004.5_Missense_Mutation_p.R92I|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.R92I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.R92I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	92					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGCTCTCTAGGCACGTG	0.582																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(274-276)aGa>aTa		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							119.0	121.0	121.0					9																	35095288		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095288C>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.275G>T	9.37:g.35095288C>A	ENSP00000367880:p.Arg92Ile					PIGO_uc003zwe.3_Missense_Mutation_p.R92I|PIGO_uc003zwf.3_Missense_Mutation_p.R92I|PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwg.2_5'UTR	p.R92I	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	671	-			92					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.275G>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092610	0.20471	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56275	0.49;0.47;0.47;0.49	5.71	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.124360	0.37304	N	0.002159	T	0.27967	0.0689	N	0.08118	0	0.19300	N	0.99998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14035	-1.0487	10	0.38643	T	0.18	-24.6888	7.64	0.28288	0.1029:0.5769:0.2528:0.0674	.	92;92	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	92	ENSP00000298004:R92I;ENSP00000367880:R92I;ENSP00000339382:R92I;ENSP00000354678:R92I	ENSP00000298004:R92I	R	-	2	0	PIGO	35085288	0.958000	0.32768	0.975000	0.42487	0.569000	0.35902	1.005000	0.29834	1.386000	0.46466	0.563000	0.77884	AGA		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
ANKRD18A	253650	broad.mit.edu	37	9	38586290	38586290	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:38586290T>C	ENST00000399703.5	-	12	2511	c.2137A>G	c.(2137-2139)Atg>Gtg	p.M713V		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	713										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTTATTGTCATTTCTAGGCAT	0.279																																						uc004abg.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						c.(2137-2139)Atg>Gtg		Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.							53.0	45.0	47.0					9																	38586290		692	1583	2275	SO:0001583	missense	253650							g.chr9:38586290T>C	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.2137A>G	9.37:g.38586290T>C	ENSP00000382610:p.Met713Val					ANKRD18A_uc004abf.1_Missense_Mutation_p.M390V	p.M713V	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN			11	2215	-			713					A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	ENST00000399703.5	37	c.2137A>G	CCDS55311.1	.	.	.	.	.	.	.	.	.	.	T	0.127	-1.117816	0.01785	.	.	ENSG00000180071	ENST00000399703	T	0.27890	1.64	1.39	0.161	0.14977	.	.	.	.	.	T	0.25606	0.0623	L	0.45581	1.43	0.09310	N	1	B	0.26041	0.14	B	0.38194	0.267	T	0.42548	-0.9445	9	0.14252	T	0.57	.	3.3223	0.07054	0.0:0.2483:0.0:0.7517	.	713	Q8IVF6	AN18A_HUMAN	V	713	ENSP00000382610:M713V	ENSP00000382610:M713V	M	-	1	0	ANKRD18A	38576290	0.006000	0.16342	0.018000	0.16275	0.166000	0.22503	-0.242000	0.08928	0.033000	0.15463	0.145000	0.16022	ATG		0.279	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3		
OR2K2	26248	broad.mit.edu	37	9	114090010	114090010	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:114090010T>C	ENST00000374428.1	-	1	790	c.791A>G	c.(790-792)aAg>aGg	p.K264R	OR2K2_ENST00000302681.1_Missense_Mutation_p.K235R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGAAAAAGCCTTGTTTCTTCC	0.423																																						uc011lwp.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(703-705)aAg>aGg		Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.							115.0	111.0	113.0					9																	114090010		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090010T>C	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.791A>G	9.37:g.114090010T>C	ENSP00000363550:p.Lys264Arg						p.K235R	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			0	704	-			264					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.704A>G		.	.	.	.	.	.	.	.	.	.	T	20.8	4.052194	0.75960	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00360	7.86;7.86	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000621	T	0.00815	0.0027	M	0.81112	2.525	0.43242	D	0.995155	D	0.89917	1.0	D	0.91635	0.999	T	0.71507	-0.4572	10	0.72032	D	0.01	.	12.3781	0.55291	0.0:0.0:0.0:1.0	.	264	Q8NGT1	OR2K2_HUMAN	R	235;264	ENSP00000305055:K235R;ENSP00000363550:K264R	ENSP00000305055:K235R	K	-	2	0	OR2K2	113129831	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.966000	0.70395	2.093000	0.63338	0.482000	0.46254	AAG		0.423	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
STXBP1	6812	broad.mit.edu	37	9	130422360	130422360	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:130422360C>T	ENST00000373299.1	+	5	413	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R100W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	100					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCTAAATACCGGGCTGCACA	0.527																																						uc004brk.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(298-300)Cgg>Tgg		Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.							112.0	98.0	103.0					9																	130422360		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130422360C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.298C>T	9.37:g.130422360C>T	ENSP00000362396:p.Arg100Trp					STXBP1_uc004brl.2_Missense_Mutation_p.R100W	p.R100W	NM_003165	NP_003156	P61764	STXB1_HUMAN			4	495	+			100					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.298C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495633	0.85069	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.81415	-1.49;-1.49	5.54	4.59	0.56863	.	0.048228	0.85682	D	0.000000	D	0.88451	0.6440	M	0.83953	2.67	0.52501	D	0.999959	D;D	0.64830	0.994;0.992	D;D	0.64321	0.924;0.914	D	0.89373	0.3676	10	0.87932	D	0	-23.1292	12.2091	0.54369	0.2574:0.7426:0.0:0.0	.	100;100	P61764;P61764-2	STXB1_HUMAN;.	W	54;100;100	ENSP00000362399:R100W;ENSP00000362396:R100W	ENSP00000362396:R100W	R	+	1	2	STXBP1	129462181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.525000	0.53502	2.765000	0.95021	0.655000	0.94253	CGG		0.527	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
NLGN4X	57502	broad.mit.edu	37	X	5811228	5811228	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:5811228G>A	ENST00000381095.3	-	6	2708	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	NLGN4X_ENST00000275857.6_Missense_Mutation_p.A694V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.A694V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.A694V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.A714V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	694					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.A694V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACAGCGCCGCAAAAGCTAA	0.502																																						uc010ndi.3																			1	Substitution - Missense(1)	p.A694V(1)|p.M730V(1)	stomach(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2191-2193)gCg>gTg		Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.							121.0	107.0	111.0					X																	5811228		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811228G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2081C>T	X.37:g.5811228G>A	ENSP00000370485:p.Ala694Val					NLGN4X_uc004crp.3_Missense_Mutation_p.A714V|NLGN4X_uc010ndh.3_Missense_Mutation_p.A694V|NLGN4X_uc004crq.3_Missense_Mutation_p.A694V|NLGN4X_uc004crr.3_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.3_Missense_Mutation_p.A694V	p.A731V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2656	-			694					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2192C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669458	0.47677	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	3.81	3.81	0.43845	.	0.000000	0.34652	N	0.003796	D	0.89757	0.6807	M	0.71206	2.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91076	0.4896	10	0.87932	D	0	.	14.2039	0.65721	0.0:0.0:1.0:0.0	.	751;694;714	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	694;714;694;694;694	ENSP00000370485:A694V;ENSP00000370483:A714V;ENSP00000275857:A694V;ENSP00000370482:A694V;ENSP00000439203:A694V	ENSP00000275857:A694V	A	-	2	0	NLGN4X	5821228	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	8.442000	0.90317	1.503000	0.48686	0.506000	0.49869	GCG		0.502	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
VCX3B	425054	broad.mit.edu	37	X	8433516	8433516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:8433516G>T	ENST00000381032.1	+	2	332	c.25G>T	c.(25-27)Gga>Tga	p.G9*	VCX3B_ENST00000440654.2_Nonsense_Mutation_p.G9*|VCX3B_ENST00000453306.1_Nonsense_Mutation_p.G9*|VCX3B_ENST00000444481.1_Nonsense_Mutation_p.G9*|VCX3B_ENST00000381029.4_Nonsense_Mutation_p.G9*	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	9						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGAGCCTCGGGACCTCCGGC	0.607																																						uc011mht.2																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(25-27)Gga>Tga		Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.							71.0	44.0	54.0					X																	8433516		1375	2318	3693	SO:0001587	stop_gained	425054					nucleolus		g.chrX:8433516G>T		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.25G>T	X.37:g.8433516G>T	ENSP00000370420:p.Gly9*					VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*|VCX3B_uc022bsj.1_5'Flank	p.G9*	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN			1	332	+			9					C9JS46|Q4KN12	Nonsense_Mutation	SNP	ENST00000381032.1	37	c.25G>T	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457140	0.63401	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	.	.	.	0.421	-0.563	0.11778	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999931	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	.	.	.	.	.	.	.	X	9	.	ENSP00000370417:G9X	G	+	1	0	VCX3B	8393516	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.121000	0.10643	-0.438000	0.07232	-0.435000	0.05868	GGA		0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		
DMD	1756	broad.mit.edu	37	X	32503062	32503062	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:32503062T>C	ENST00000357033.4	-	21	2983	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	DMD_ENST00000378677.2_Missense_Mutation_p.Q922R	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	926					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)			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)				CTCTCTGGCCTGCACATCAGA	0.408																																						uc004dda.1																			0				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						c.(2776-2778)cAg>cGg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							121.0	104.0	110.0					X																	32503062		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:32503062T>C	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.2777A>G	X.37:g.32503062T>C	ENSP00000354923:p.Gln926Arg					DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	p.Q926R	NM_004006	NP_004001	P11532	DMD_HUMAN			20	3021	-		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)	926					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2777A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	6.948	0.544656	0.13312	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50548	0.74;0.74	5.14	1.51	0.23008	.	0.447919	0.15990	N	0.234878	T	0.22437	0.0541	N	0.04203	-0.255	0.36600	D	0.874613	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.07966	-1.0745	10	0.32370	T	0.25	.	7.7876	0.29101	0.0:0.2559:0.0:0.7441	.	918;926;922	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	R	918;922;926;926;803	ENSP00000367948:Q922R;ENSP00000354923:Q926R	ENSP00000354923:Q926R	Q	-	2	0	DMD	32412983	0.943000	0.32029	0.975000	0.42487	0.515000	0.34225	2.468000	0.45102	0.171000	0.19730	0.437000	0.28790	CAG		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
CXorf22	170063	broad.mit.edu	37	X	36007487	36007487	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:36007487G>A	ENST00000297866.5	+	16	2831	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	922										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAGCAGGGCTTCAGTTCT	0.368																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2764-2766)gGc>gAc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							86.0	72.0	77.0					X																	36007487		2202	4300	6502	SO:0001583	missense	170063							g.chrX:36007487G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2765G>A	X.37:g.36007487G>A	ENSP00000297866:p.Gly922Asp					CXorf22_uc010ngv.3_Non-coding_Transcript	p.G922D	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			15	2831	+			922					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2765G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647930	0.29336	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.62	2.69	0.31865	.	0.434279	0.27151	N	0.020690	T	0.16599	0.0399	M	0.72118	2.19	0.09310	N	1	D	0.54772	0.968	P	0.47470	0.548	T	0.12116	-1.0560	10	0.09590	T	0.72	-3.5941	8.0165	0.30385	0.0876:0.2962:0.6162:0.0	.	922	Q6ZTR5	CX022_HUMAN	D	922	ENSP00000297866:G922D	ENSP00000297866:G922D	G	+	2	0	CXorf22	35917408	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	1.504000	0.35726	0.521000	0.28445	0.594000	0.82650	GGC		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
ZC4H2	55906	broad.mit.edu	37	X	64140054	64140054	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:64140054T>C	ENST00000374839.3	-	3	411	c.305A>G	c.(304-306)aAg>aGg	p.K102R	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.K102R|ZC4H2_ENST00000337990.2_Missense_Mutation_p.K79R|ZC4H2_ENST00000545618.1_Missense_Mutation_p.K97R	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	102					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTTCAGTGGCTTATACTCATC	0.473																																						uc004dvu.3																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(304-306)aAg>aGg		Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.							192.0	155.0	168.0					X																	64140054		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64140054T>C	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.305A>G	X.37:g.64140054T>C	ENSP00000363972:p.Lys102Arg					ZC4H2_uc004dvv.3_Missense_Mutation_p.K79R|ZC4H2_uc022byd.1_Missense_Mutation_p.K79R|ZC4H2_uc022byc.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.2_Missense_Mutation_p.K102R|ZC4H2_uc011mov.2_Missense_Mutation_p.K79R|ZC4H2_uc004dvw.2_Missense_Mutation_p.K102R	p.K102R	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN			2	461	-			102					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.305A>G	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389409	0.25118	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.15	5.15	0.70609	.	0.045861	0.85682	D	0.000000	T	0.36552	0.0971	N	0.19112	0.55	0.52501	D	0.999957	B;B	0.33413	0.206;0.411	B;B	0.37015	0.054;0.239	T	0.16158	-1.0412	9	0.08837	T	0.75	.	12.1271	0.53922	0.0:0.0:0.0:1.0	.	102;102	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	R	102;97;102;79	.	ENSP00000338650:K79R	K	-	2	0	ZC4H2	64056779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.828000	0.69307	1.838000	0.53458	0.430000	0.28490	AAG		0.473	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684	
EDA	1896	broad.mit.edu	37	X	69250324	69250324	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:69250324T>C	ENST00000374552.4	+	6	989	c.747T>C	c.(745-747)gcT>gcC	p.A249A	EDA_ENST00000374553.2_Silent_p.A249A|EDA_ENST00000524573.1_Silent_p.A249A	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	249					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCCAGCCAGCTGTGGTGCATC	0.502											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(745-747)gcT>gcC		Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.							100.0	69.0	79.0					X																	69250324		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69250324T>C	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.747T>C	X.37:g.69250324T>C			OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc011mpj.2_Silent_p.A249A|EDA_uc004dxr.3_Silent_p.A249A	p.A249A	NM_001399	NP_001390	Q92838	EDA_HUMAN			5	989	+			249					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.747T>C	CCDS14394.1																																																																																				0.502	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
CDX4	1046	broad.mit.edu	37	X	72674301	72674301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:72674301G>A	ENST00000373514.2	+	3	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	245					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GTGGAGGCTCGGTGCAAAGTG	0.448																																						uc011mqk.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(733-735)tcG>tcA		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							114.0	94.0	100.0					X																	72674301		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72674301G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.735G>A	X.37:g.72674301G>A							p.S245S	NM_005193	NP_005184	O14627	CDX4_HUMAN			2	735	+	Renal(35;0.156)		245					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.735G>A	CCDS14424.1																																																																																				0.448	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193	
RLIM	51132	broad.mit.edu	37	X	73811531	73811531	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:73811531T>C	ENST00000332687.6	-	4	1837	c.1619A>G	c.(1618-1620)gAt>gGt	p.D540G	RLIM_ENST00000349225.2_Missense_Mutation_p.D540G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCATCATCATCCTCATTTAA	0.458																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1618-1620)gAt>gGt		Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.							54.0	43.0	47.0					X																	73811531		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811531T>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1619A>G	X.37:g.73811531T>C	ENSP00000328059:p.Asp540Gly					RLIM_uc004ebw.3_Missense_Mutation_p.D540G	p.D540G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			4	1909	-			540					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1619A>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522300	0.44866	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.10099	2.91;2.91	5.41	5.41	0.78517	.	0.144262	0.64402	D	0.000010	T	0.11067	0.0270	L	0.27053	0.805	0.80722	D	1	B	0.29988	0.264	B	0.36885	0.235	T	0.24190	-1.0167	10	0.30854	T	0.27	-0.2358	14.5727	0.68224	0.0:0.0:0.0:1.0	.	540	Q9NVW2	RNF12_HUMAN	G	540	ENSP00000328059:D540G;ENSP00000253571:D540G	ENSP00000328059:D540G	D	-	2	0	RLIM	73728256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.821000	0.53095	0.486000	0.48141	GAT		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
CYLC1	1538	broad.mit.edu	37	X	83128534	83128534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83128534C>G	ENST00000329312.4	+	4	855	c.818C>G	c.(817-819)tCa>tGa	p.S273*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	273					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGAATAATTCAAAGAATTAT	0.318																																						uc004eei.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(817-819)tCa>tGa		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.							28.0	28.0	28.0					X																	83128534		2191	4278	6469	SO:0001587	stop_gained	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128534C>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.818C>G	X.37:g.83128534C>G	ENSP00000331556:p.Ser273*					CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	p.S273*	NM_021118	NP_066941	P35663	CYLC1_HUMAN			3	839	+			273					A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	c.818C>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.323681	0.81580	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.75	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.4071	6.723	0.23340	0.0:0.7796:0.0:0.2204	.	.	.	.	X	273	.	ENSP00000331556:S273X	S	+	2	0	CYLC1	83015190	0.096000	0.21769	0.991000	0.47740	0.592000	0.36648	-0.087000	0.11215	0.535000	0.28714	0.600000	0.82982	TCA		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
RPS6KA6	27330	broad.mit.edu	37	X	83361995	83361995	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83361995T>C	ENST00000262752.2	-	14	1172	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S389G|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	389	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAACAAAGCTGAATCCTTTG	0.343																																						uc004eej.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1165-1167)Agc>Ggc		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.							76.0	70.0	72.0					X																	83361995		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361995T>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1165A>G	X.37:g.83361995T>C	ENSP00000262752:p.Ser389Gly					RPS6KA6_uc011mqt.2_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S286G	p.S389G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			13	1201	-			389			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1165A>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895407	0.72639	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.63744	-0.06;-0.06	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.080516	0.85682	D	0.000000	T	0.81735	0.4885	M	0.92268	3.29	0.80722	D	1	P;D	0.54207	0.576;0.965	P;P	0.61533	0.457;0.89	D	0.86433	0.1762	10	0.87932	D	0	.	13.925	0.63958	0.0:0.0:0.0:1.0	.	389;389	B7ZL90;Q9UK32	.;KS6A6_HUMAN	G	389	ENSP00000262752:S389G;ENSP00000440830:S389G	ENSP00000262752:S389G	S	-	1	0	RPS6KA6	83248651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.987000	0.70571	1.733000	0.51620	0.486000	0.48141	AGC		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
