#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
B3GALT6	126792	broad.mit.edu	37	1	1168120	1168120	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:1168120G>A	ENST00000379198.2	+	1	492	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SDF4_ENST00000360001.6_5'Flank|SDF4_ENST00000459994.2_5'Flank|SDF4_ENST00000545427.1_5'Flank|SDF4_ENST00000263741.7_5'Flank	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	154					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi medial cisterna (GO:0005797)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylxylosylprotein 3-beta-galactosyltransferase activity (GO:0047220)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)|UDP-galactosyltransferase activity (GO:0035250)	p.K154K(1)		lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCGTGCTCAAGGCGGACGACG	0.721																																						uc001adk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)AAG>AAA		beta-1,3-galactosyltransferase 6							17.0	20.0	19.0					1																	1168120		2126	4199	6325	SO:0001819	synonymous_variant	126792				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity	g.chr1:1168120G>A	AY050570	CCDS13.1	1p36.33	2013-02-19	2002-05-23		ENSG00000176022	ENSG00000176022		"""Beta 3-glycosyltransferases"""	17978	protein-coding gene	gene with protein product	"""beta-1,3-galactosyltransferase-6"""	615291	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6"""			11551958	Standard	NM_080605		Approved	beta3GalT6	uc001adk.3	Q96L58	OTTHUMG00000001813	ENST00000379198.2:c.462G>A	1.37:g.1168120G>A						SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	p.K154K	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	492	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	154			Lumenal (Potential).		Q5T7M5	Silent	SNP	ENST00000379198.2	37	c.462G>A	CCDS13.1																																																																																				PASS	0.721	B3GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005071.1	NM_080605		12	15	12	15	---	---	---	---
DRAXIN	374946	broad.mit.edu	37	1	11766366	11766366	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:11766366G>T	ENST00000294485.5	+	2	186	c.51G>T	c.(49-51)ctG>ctT	p.L17L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein									p.L17L(1)									TCGTCCTCCTGCTGCCCCTGG	0.657																																						uc001asr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)CTG>CTT		chromosome 1 open reading frame 187 precursor							23.0	26.0	25.0					1																	11766366		2203	4300	6503	SO:0001819	synonymous_variant	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11766366G>T	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.51G>T	1.37:g.11766366G>T							p.L17L	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	2	191	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	17						Silent	SNP	ENST00000294485.5	37	c.51G>T	CCDS135.1																																																																																				PASS	0.657	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		9	12	9	12	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419271	23419271	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:23419271C>A	ENST00000302291.4	-	4	2285	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	LUZP1_ENST00000418342.1_Missense_Mutation_p.G495V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G495V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G495V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	495					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.G495V(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTCGGTGCCTGGCTTGGA	0.572																																						uc001bgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1483-1485)GGC>GTC		leucine zipper protein 1							232.0	228.0	229.0					1																	23419271		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419271C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1484G>T	1.37:g.23419271C>A	ENSP00000303758:p.Gly495Val					LUZP1_uc010odv.1_Missense_Mutation_p.G495V|LUZP1_uc001bgl.2_Missense_Mutation_p.G495V|LUZP1_uc001bgm.1_Missense_Mutation_p.G495V	p.G495V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1868	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	495					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1484G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688682	0.14973	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.13778	2.77;2.77;2.77;2.56	5.36	4.43	0.53597	.	0.000000	0.49305	D	0.000143	T	0.14787	0.0357	M	0.62723	1.935	0.21527	N	0.99966	B;B	0.32653	0.379;0.379	B;B	0.32928	0.091;0.155	T	0.10753	-1.0616	10	0.40728	T	0.16	.	9.3204	0.37959	0.1531:0.7682:0.0:0.0787	.	495;495	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	495	ENSP00000393460:G495V;ENSP00000363752:G495V;ENSP00000303758:G495V;ENSP00000313705:G495V	ENSP00000303758:G495V	G	-	2	0	LUZP1	23291858	0.115000	0.22152	0.923000	0.36655	0.125000	0.20455	1.185000	0.32065	2.800000	0.96347	0.650000	0.86243	GGC		PASS	0.572	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		35	255	35	255	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36205073	36205073	+	Silent	SNP	G	G	A	rs201356504		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:36205073G>A	ENST00000318121.3	-	19	3258	c.3201C>T	c.(3199-3201)agC>agT	p.S1067S	CLSPN_ENST00000520551.1_Silent_p.S1014S|CLSPN_ENST00000373220.3_Silent_p.S1003S|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000251195.5_Silent_p.S1067S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1067					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.S1067S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTCATCTTCGCTTCCCACAT	0.398																																						uc001bzi.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3199-3201)AGC>AGT		claspin							271.0	253.0	259.0					1																	36205073		2203	4300	6503	SO:0001819	synonymous_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36205073G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3201C>T	1.37:g.36205073G>A						CLSPN_uc009vux.2_Silent_p.S1003S	p.S1067S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			19	3281	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1067					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	c.3201C>T	CCDS396.1																																																																																				PASS	0.398	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		14	215	14	215	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46106068	46106068	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:46106068C>A	ENST00000290795.3	-	7	1779	c.558G>T	c.(556-558)ccG>ccT	p.P186P	GPBP1L1_ENST00000355105.3_Silent_p.P186P			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	186					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P186P(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGCACTAGGCGGGTTTTCTG	0.443																																						uc001coq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(556-558)CCG>CCT		GC-rich promoter binding protein 1-like 1							176.0	171.0	173.0					1																	46106068		2203	4300	6503	SO:0001819	synonymous_variant	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46106068C>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.558G>T	1.37:g.46106068C>A							p.P186P	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			8	1919	-	Acute lymphoblastic leukemia(166;0.155)		186					D3DQ10|Q9H751	Silent	SNP	ENST00000290795.3	37	c.558G>T	CCDS528.1																																																																																				PASS	0.443	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		4	271	4	271	---	---	---	---
TTC39A	22996	broad.mit.edu	37	1	51771650	51771650	+	Splice_Site	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:51771650A>T	ENST00000447632.2	-	7	743	c.695T>A	c.(694-696)cTg>cAg	p.L232Q	TTC39A_ENST00000262675.7_Splice_Site_p.L169Q|TTC39A_ENST00000413473.2_Splice_Site_p.L200Q|TTC39A_ENST00000371750.5_Splice_Site_p.L197Q|TTC39A_ENST00000262676.5_Splice_Site_p.L228Q|TTC39A_ENST00000451380.1_Splice_Site_p.L196Q|TTC39A_ENST00000371747.3_Splice_Site_p.L231Q			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	232								p.0?(2)|p.L169Q(1)|p.L232Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGCACTCACCAGGTTGAAGGC	0.567																																						uc001csl.2																			4	Substitution - Missense(2)|Whole gene deletion(2)		lung(2)|thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(694-696)CTG>CAG		tetratricopeptide repeat domain 39A isoform 2							97.0	106.0	103.0					1																	51771650		2091	4218	6309	SO:0001630	splice_region_variant	22996						binding	g.chr1:51771650A>T	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.696+1T>A	1.37:g.51771650A>T						TTC39A_uc001csk.2_Missense_Mutation_p.L197Q|TTC39A_uc010ond.1_Missense_Mutation_p.L169Q|TTC39A_uc010one.1_Missense_Mutation_p.L196Q|TTC39A_uc010onf.1_Missense_Mutation_p.L200Q|TTC39A_uc001csn.2_Missense_Mutation_p.L231Q|TTC39A_uc001cso.1_Missense_Mutation_p.L228Q|TTC39A_uc009vyy.1_Missense_Mutation_p.L169Q	p.L232Q	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			7	800	-			232					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.695T>A		.	.	.	.	.	.	.	.	.	.	A	20.3	3.972536	0.74246	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925	T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000001	T	0.81451	0.4825	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.984;1.0;0.988;1.0	D	0.85545	0.1218	10	0.87932	D	0	-12.8024	13.0054	0.58701	1.0:0.0:0.0:0.0	.	200;196;169;228;196;232;197	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	Q	232;200;169;196;197;231;228;169;196;169	ENSP00000393952:L232Q;ENSP00000406144:L200Q;ENSP00000262675:L169Q;ENSP00000397207:L196Q;ENSP00000360815:L197Q;ENSP00000360812:L231Q;ENSP00000262676:L228Q;ENSP00000408532:L169Q;ENSP00000405803:L196Q;ENSP00000388995:L169Q	ENSP00000262675:L169Q	L	-	2	0	TTC39A	51544238	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.637000	0.91014	2.016000	0.59253	0.260000	0.18958	CTG		PASS	0.567	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		Missense_Mutation	10	73	10	73	---	---	---	---
KTI12	112970	broad.mit.edu	37	1	52498725	52498725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:52498725C>A	ENST00000371614.1	-	1	763	c.709G>T	c.(709-711)Gag>Tag	p.E237*	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	237							ATP binding (GO:0005524)	p.E237*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGCAACGGCTCCTCTAGGCCC	0.637																																						uc001ctj.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(709-711)GAG>TAG		KTI12 homolog, chromatin associated							46.0	57.0	53.0					1																	52498725		2203	4299	6502	SO:0001587	stop_gained	112970						ATP binding	g.chr1:52498725C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.709G>T	1.37:g.52498725C>A	ENSP00000360676:p.Glu237*					TXNDC12_uc001cti.2_Intron	p.E237*	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	748	-			237						Nonsense_Mutation	SNP	ENST00000371614.1	37	c.709G>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000198841	ENST00000371614	.	.	.	4.39	3.44	0.39384	.	0.258102	0.29015	U	0.013404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	11.5719	0.50839	0.0:0.8194:0.1806:0.0	.	.	.	.	X	237	.	ENSP00000360676:E237X	E	-	1	0	KTI12	52271313	1.000000	0.71417	0.993000	0.49108	0.589000	0.36550	3.249000	0.51437	1.003000	0.39130	0.557000	0.71058	GAG		PASS	0.637	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		35	82	35	82	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53108627	53108627	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:53108627C>A	ENST00000517870.1	+	2	425	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	92						integral component of membrane (GO:0016021)		p.S92Y(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TTCATCAGCTCTAAGCCCCAC	0.522																																						uc001cuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)TCT>TAT		hypothetical protein LOC348378							155.0	147.0	149.0					1																	53108627		2053	4188	6241	SO:0001583	missense	348378					integral to membrane		g.chr1:53108627C>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.275C>A	1.37:g.53108627C>A	ENSP00000429726:p.Ser92Tyr					FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	p.S92Y	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			2	375	+			92					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.275C>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791211	0.70452	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.7	4.7	0.59300	.	0.521393	0.15124	N	0.279213	T	0.66645	0.2810	L	0.50333	1.59	0.35733	D	0.818063	D	0.59767	0.986	P	0.59487	0.858	T	0.72465	-0.4285	9	0.52906	T	0.07	.	12.8709	0.57965	0.1628:0.8372:0.0:0.0	.	92	Q6UWV7	F159A_HUMAN	Y	92	.	ENSP00000429726:S92Y	S	+	2	0	FAM159A	52881215	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.925000	0.56484	2.441000	0.82636	0.557000	0.71058	TCT		PASS	0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		4	206	4	206	---	---	---	---
YIPF1	54432	broad.mit.edu	37	1	54344035	54344036	+	Missense_Mutation	DNP	CC	CC	AT	rs368635076|rs368945494		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:54344035_54344036CC>AT	ENST00000072644.1	-	6	652_653	c.316_317GG>AT	c.(316-318)GGg>ATg	p.G106M	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_De_novo_Start_InFrame|YIPF1_ENST00000539954.1_Missense_Mutation_p.G131M	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	106						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.G106V(1)|p.G106M(1)|p.G106R(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						AAAGTTTTTCCCGGGTATTGGC	0.347																																						uc001cvu.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(316-318)GGG>GTG|c.(316-318)GGG>AGG		Yip1 domain family, member 1																																				SO:0001583	missense	54432					integral to membrane|transport vesicle		g.chr1:54344035C>A|g.chr1:54344036C>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.316_317delinsAT	1.37:g.54344035_54344036delinsAT	ENSP00000072644:p.Gly106Met					YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	p.G106V|p.G106R	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN			6	654|653	-			106			Cytoplasmic (Potential).		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	c.317G>T|c.316G>A	CCDS584.1																																																																																				PASS	0.347	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		69|67	196|193	67	193	---	---	---	---
BSND	7809	broad.mit.edu	37	1	55470715	55470715	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:55470715C>T	ENST00000371265.4	+	2	452	c.198C>T	c.(196-198)gaC>gaT	p.D66D		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	66					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.D66D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TCCCTGCTGACTCTGACTTTC	0.592																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(196-198)GAC>GAT		barttin							115.0	95.0	102.0					1																	55470715		2203	4300	6503	SO:0001819	synonymous_variant	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470715C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.198C>T	1.37:g.55470715C>T							p.D66D	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			2	441	+			66			Cytoplasmic (Potential).		Q6NT28	Silent	SNP	ENST00000371265.4	37	c.198C>T	CCDS602.1																																																																																				PASS	0.592	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		4	115	4	115	---	---	---	---
BSND	7809	broad.mit.edu	37	1	55473948	55473948	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:55473948G>C	ENST00000371265.4	+	4	864	c.610G>C	c.(610-612)Gac>Cac	p.D204H		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	204					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.D204H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGGACATGGACTCCAGTGA	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(610-612)GAC>CAC		barttin							40.0	40.0	40.0					1																	55473948		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55473948G>C	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.610G>C	1.37:g.55473948G>C	ENSP00000360312:p.Asp204His						p.D204H	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			4	853	+			204			Cytoplasmic (Potential).		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.610G>C	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604724	0.46423	.	.	ENSG00000162399	ENST00000371265	T	0.64438	-0.1	4.27	3.36	0.38483	.	0.380726	0.24871	N	0.034936	T	0.50820	0.1638	L	0.36672	1.1	0.09310	N	1	P	0.41848	0.763	B	0.42555	0.391	T	0.44982	-0.9292	10	0.51188	T	0.08	-11.1476	7.1464	0.25585	0.0909:0.0:0.7398:0.1693	.	204	Q8WZ55	BSND_HUMAN	H	204	ENSP00000360312:D204H	ENSP00000360312:D204H	D	+	1	0	BSND	55246536	0.003000	0.15002	0.375000	0.26029	0.881000	0.50899	0.641000	0.24720	1.398000	0.46701	0.549000	0.68633	GAC		PASS	0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		6	53	6	53	---	---	---	---
C8B	732	broad.mit.edu	37	1	57420497	57420497	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:57420497C>A	ENST00000371237.4	-	4	461	c.395G>T	c.(394-396)aGg>aTg	p.R132M	C8B_ENST00000535057.1_Missense_Mutation_p.R70M|C8B_ENST00000543257.1_Missense_Mutation_p.R80M	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	132	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.R132M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTTACACACCTTCCTAGAAT	0.428																																						uc001cyp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(394-396)AGG>ATG		complement component 8, beta polypeptide							103.0	97.0	99.0					1																	57420497		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57420497C>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.395G>T	1.37:g.57420497C>A	ENSP00000360281:p.Arg132Met					C8B_uc010oon.1_Missense_Mutation_p.R70M|C8B_uc010ooo.1_Missense_Mutation_p.R80M	p.R132M	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	462	-			132			LDL-receptor class A.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.395G>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453757	0.84209	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.96104	-3.91;-3.91;-3.91	5.63	5.63	0.86233	.	0.091170	0.64402	D	0.000001	D	0.97754	0.9263	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97771	1.0226	10	0.62326	D	0.03	-27.2261	20.0572	0.97657	0.0:1.0:0.0:0.0	.	80;70;132	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	M	132;80;70	ENSP00000360281:R132M;ENSP00000442548:R80M;ENSP00000440113:R70M	ENSP00000360281:R132M	R	-	2	0	C8B	57193085	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	6.635000	0.74295	2.826000	0.97356	0.655000	0.94253	AGG		PASS	0.428	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			7	100	7	100	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102465	66102465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:66102465G>T	ENST00000349533.6	+	20	3450	c.3265G>T	c.(3265-3267)Gag>Tag	p.E1089*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.E156*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.E1089*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAAAAGAGAGAGAGTGGTGT	0.418																																						uc001dci.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(3265-3267)GAG>TAG		leptin receptor isoform 1							68.0	69.0	69.0					1																	66102465		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102465G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3265G>T	1.37:g.66102465G>T	ENSP00000330393:p.Glu1089*					LEPR_uc009waq.2_3'UTR	p.E1089*	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3467	+			1089			Cytoplasmic (Potential).		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.3265G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531750	0.96446	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	.	.	.	5.64	2.5	0.30297	.	0.292666	0.36234	N	0.002712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.9432	8.3786	0.32457	0.1318:0.3527:0.5155:0.0	.	.	.	.	X	1089;156	.	ENSP00000330393:E1089X	E	+	1	0	LEPR	65875053	0.828000	0.29307	0.942000	0.38095	0.173000	0.22820	1.815000	0.38981	1.365000	0.46057	0.585000	0.79938	GAG		PASS	0.418	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		37	88	37	88	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74665362	74665362	+	Missense_Mutation	SNP	C	C	G	rs377042126		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:74665362C>G	ENST00000609362.1	+	2	134	c.97C>G	c.(97-99)Cgt>Ggt	p.R33G	LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R33G|LRRIQ3_ENST00000354431.4_5'Flank|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R46G|FPGT_ENST00000467578.2_Missense_Mutation_p.R46G|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R33G|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.R33G|FPGT_ENST00000370894.5_Missense_Mutation_p.R33G|FPGT-TNNI3K_ENST00000533006.1_3'UTR|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000370898.3_Missense_Mutation_p.R46G|FPGT_ENST00000534056.1_Missense_Mutation_p.R33G|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R33G|FPGT_ENST00000482102.2_Missense_Mutation_p.R55G|FPGT_ENST00000524915.1_3'UTR	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	33					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R33C(1)|p.R33G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACTTGTAGCACGTGGAGAATT	0.373																																						uc001dge.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(97-99)CGT>GGT		TNNI3 interacting kinase isoform a							93.0	93.0	93.0					1																	74665362		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665362C>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.97C>G	1.37:g.74665362C>G	ENSP00000476680:p.Arg33Gly					LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.R33G|TNNI3K_uc001dgd.2_Missense_Mutation_p.R33G|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.R33G|FPGT_uc001dgb.1_Missense_Mutation_p.R33G|FPGT_uc010oqv.1_Missense_Mutation_p.R33G	p.R33G	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN			2	113	+			Error:Variant_position_missing_in_Q59H18_after_alignment					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.97C>G	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137236	0.21123	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.75050	1.4;0.81;-0.9;-0.6;-0.88;-0.88	4.9	-8.31	0.01001	.	0.814198	0.10588	N	0.657121	T	0.41994	0.1183	N	0.24115	0.695	0.19945	N	0.999947	B;B;B;B;B;B	0.22414	0.033;0.0;0.0;0.0;0.069;0.001	B;B;B;B;B;B	0.19148	0.016;0.0;0.0;0.0;0.024;0.001	T	0.03095	-1.1073	10	0.45353	T	0.12	.	20.9379	0.99941	0.071:0.8072:0.1217:0.0	.	33;33;33;33;33;33	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	G	33;33;55;33;33;33;31;33;33;33;33;33;33	ENSP00000359935:R33G;ENSP00000432819:R33G;ENSP00000359936:R33G;ENSP00000359932:R33G;ENSP00000450895:R33G;ENSP00000359928:R33G	ENSP00000359928:R33G	R	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74437950	0.221000	0.23642	0.874000	0.34290	0.224000	0.24922	-0.616000	0.05591	-1.152000	0.02832	-0.353000	0.07706	CGT		PASS	0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	97	10	97	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112999369	112999369	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:112999369G>A	ENST00000271277.6	+	6	1480	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	419					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.A419T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAGCACTGCCTCCTCCTC	0.567																																						uc001ebx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1255-1257)GCC>ACC		CTTNBP2 N-terminal like							246.0	253.0	251.0					1																	112999369		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999369G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1255G>A	1.37:g.112999369G>A	ENSP00000271277:p.Ala419Thr					CTTNBP2NL_uc001ebz.2_5'Flank	p.A419T	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1483	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	419					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1255G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208242	0.39003	.	.	ENSG00000143079	ENST00000271277	T	0.24908	1.83	5.39	5.39	0.77823	.	0.162013	0.52532	D	0.000070	T	0.24044	0.0582	L	0.50333	1.59	0.48901	D	0.999724	P	0.51791	0.948	P	0.48738	0.588	T	0.00599	-1.1651	10	0.30854	T	0.27	-18.8777	19.1069	0.93300	0.0:0.0:1.0:0.0	.	419	Q9P2B4	CT2NL_HUMAN	T	419	ENSP00000271277:A419T	ENSP00000271277:A419T	A	+	1	0	CTTNBP2NL	112800892	1.000000	0.71417	0.792000	0.32020	0.797000	0.45037	4.354000	0.59417	2.678000	0.91216	0.563000	0.77884	GCC		PASS	0.567	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		139	263	139	263	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783693	149783693	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:149783693G>T	ENST00000369167.1	-	1	221	c.186C>A	c.(184-186)atC>atA	p.I62I	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Silent_p.I62I|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Silent_p.I62I	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	62					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I62I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGGAGTTCATGATGCCCATGG	0.612																																						uc001esr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)ATC>ATA		histone cluster 2, H2bf isoform a							116.0	106.0	110.0					1																	149783693		2203	4297	6500	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783693G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.186C>A	1.37:g.149783693G>T						HIST2H2BF_uc010pbj.1_Silent_p.I62I|HIST2H2BF_uc010pbk.1_Silent_p.I62I	p.I62I	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	236	-	Breast(34;0.0124)|all_hematologic(923;0.127)		62					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.186C>A	CCDS30846.1																																																																																				PASS	0.612	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		4	321	4	321	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188497	152188497	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:152188497C>G	ENST00000368801.2	-	3	5683	c.5608G>C	c.(5608-5610)Gga>Cga	p.G1870R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1870					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G1870R(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCAAATCCAGAAGACTGA	0.577																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5608-5610)GGA>CGA		hornerin							491.0	777.0	681.0					1																	152188497		2171	4298	6469	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188497C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5608G>C	1.37:g.152188497C>G	ENSP00000357791:p.Gly1870Arg						p.G1870R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5684	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1870			20.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5608G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	4.908	0.168658	0.09339	.	.	ENSG00000197915	ENST00000368801	T	0.06449	3.3	3.93	-7.75	0.01236	.	.	.	.	.	T	0.02380	0.0073	M	0.62723	1.935	0.09310	N	1	B	0.20887	0.049	B	0.12837	0.008	T	0.13255	-1.0516	9	0.32370	T	0.25	.	15.9269	0.79624	0.0:0.1441:0.0:0.8559	.	1870	Q86YZ3	HORN_HUMAN	R	1870	ENSP00000357791:G1870R	ENSP00000357791:G1870R	G	-	1	0	HRNR	150455121	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.174000	0.01264	-1.933000	0.01052	-1.396000	0.01147	GGA		PASS	0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		15	802	15	802	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155736467	155736467	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:155736467G>T	ENST00000368331.1	-	21	2845	c.2797C>A	c.(2797-2799)Cac>Aac	p.H933N	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.H933N|GON4L_ENST00000361040.5_Missense_Mutation_p.H933N|GON4L_ENST00000271883.5_Missense_Mutation_p.H933N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	933					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H933N(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCAGCCATGTGCCGCAGTTCT	0.468																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(2797-2799)CAC>AAC		gon-4-like isoform a							103.0	98.0	100.0					1																	155736467		2203	4298	6501	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155736467G>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2797C>A	1.37:g.155736467G>T	ENSP00000357315:p.His933Asn					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.H933N|GON4L_uc009wrh.1_Missense_Mutation_p.H933N|GON4L_uc001fma.1_Missense_Mutation_p.H933N|GON4L_uc001fmb.3_Missense_Mutation_p.H129N|GON4L_uc001fmc.2_Missense_Mutation_p.H933N|GON4L_uc001fmd.3_Missense_Mutation_p.H933N|GON4L_uc009wri.2_Missense_Mutation_p.H519N	p.H933N	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	2894	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		933					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2797C>A		.	.	.	.	.	.	.	.	.	.	G	0.759	-0.769958	0.02974	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11169	3.0;3.0;3.0;2.8	4.97	2.84	0.33178	.	0.748249	0.12622	N	0.452928	T	0.01353	0.0044	N	0.11560	0.145	0.09310	N	1	P;B;B;B	0.34800	0.469;0.001;0.0;0.001	B;B;B;B	0.29598	0.104;0.003;0.001;0.002	T	0.43702	-0.9375	10	0.09338	T	0.73	.	10.9531	0.47341	0.0:0.0:0.5679:0.4321	.	933;129;933;933	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	N	933	ENSP00000396117:H933N;ENSP00000357315:H933N;ENSP00000271883:H933N;ENSP00000354322:H933N	ENSP00000271883:H933N	H	-	1	0	GON4L	154003091	0.000000	0.05858	0.003000	0.11579	0.196000	0.23810	0.378000	0.20569	0.494000	0.27859	0.650000	0.86243	CAC		PASS	0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		4	161	4	161	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160143418	160143418	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:160143418C>A	ENST00000368081.4	+	13	2373	c.1902C>A	c.(1900-1902)gcC>gcA	p.A634A	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	634					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A634A(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCCATTGCCAAGGGTGTGG	0.542																																						uc001fve.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1900-1902)GCC>GCA		Na+/K+ -ATPase alpha 4 subunit isoform 1							153.0	126.0	135.0					1																	160143418		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143418C>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1902C>A	1.37:g.160143418C>A						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.A137A	p.A634A	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		13	2381	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		634			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1902C>A	CCDS1197.1																																																																																				PASS	0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		79	223	79	223	---	---	---	---
FCGR2A	2212	broad.mit.edu	37	1	161487886	161487886	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:161487886A>T	ENST00000271450.6	+	7	940	c.902A>T	c.(901-903)aAa>aTa	p.K301I	FCGR2A_ENST00000367972.4_Missense_Mutation_p.K300I|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	301					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K300I(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACGATGATAAAAACATCTAC	0.453																																						uc001gan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)AAA>ATA		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						71.0	70.0	70.0					1																	161487886		2202	4280	6482	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487886A>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.902A>T	1.37:g.161487886A>T	ENSP00000271450:p.Lys301Ile					FCGR2A_uc001gam.2_Missense_Mutation_p.K300I|FCGR2A_uc001gao.2_RNA	p.K301I	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	955	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		301			Cytoplasmic (Potential).		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.902A>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.141	0.785319	0.16189	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.02446	4.3;4.29	0.565	-1.13	0.09775	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.24034	N	0.996105	P;P	0.39131	0.531;0.661	B;B	0.43783	0.248;0.431	T	0.44034	-0.9354	7	0.54805	T	0.06	.	.	.	.	.	301;300	P12318;P12318-2	FCG2A_HUMAN;.	I	300;301;36;36	ENSP00000356949:K300I;ENSP00000271450:K301I	ENSP00000271450:K301I	K	+	2	0	FCGR2A	159754510	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.129000	0.10515	-1.226000	0.02574	-1.270000	0.01421	AAA		PASS	0.453	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		64	586	64	586	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092665	175092665	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:175092665G>T	ENST00000239462.4	+	12	2893	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	927	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R927M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGAGACCAGGGAGGTTCCG	0.622																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2779-2781)AGG>ATG		tenascin N precursor							94.0	80.0	85.0					1																	175092665		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092665G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2780G>T	1.37:g.175092665G>T	ENSP00000239462:p.Arg927Met						p.R927M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2893	+		Breast(1374;0.000962)	927			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2780G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	7.605	0.673575	0.14776	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.53640	0.61	4.98	-5.76	0.02376	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.977933	0.08448	N	0.944400	T	0.40645	0.1125	L	0.48642	1.525	0.09310	N	0.999999	B	0.26547	0.152	B	0.36766	0.232	T	0.51834	-0.8655	10	0.46703	T	0.11	.	8.1305	0.31024	0.625:0.0:0.2739:0.1011	.	927	Q9UQP3	TENN_HUMAN	M	927;750	ENSP00000239462:R927M	ENSP00000239462:R927M	R	+	2	0	TNN	173359288	0.005000	0.15991	0.001000	0.08648	0.074000	0.17049	0.027000	0.13621	-1.300000	0.02341	-0.379000	0.06801	AGG		PASS	0.622	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		60	85	60	85	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182823280	182823280	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:182823280A>G	ENST00000367549.3	+	6	703	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	198	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.Y198C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAAGGAGAATATAAGTACACC	0.378																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(592-594)TAT>TGT		DEAH (Asp-Glu-Ala-His) box polypeptide 9							81.0	80.0	80.0					1																	182823280		1833	4087	5920	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182823280A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.593A>G	1.37:g.182823280A>G	ENSP00000356520:p.Tyr198Cys					DHX9_uc001gps.2_Translation_Start_Site	p.Y198C	NM_001357	NP_001348	Q08211	DHX9_HUMAN			6	756	+			198			DRBM 2.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.593A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581879	0.86748	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.80123	-1.34	5.39	5.39	0.77823	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.92861	0.7729	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94993	0.8136	10	0.87932	D	0	.	15.0812	0.72117	1.0:0.0:0.0:0.0	.	198	Q08211	DHX9_HUMAN	C	198	ENSP00000356520:Y198C	ENSP00000356520:Y198C	Y	+	2	0	DHX9	181089903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.661000	0.91125	2.045000	0.60652	0.533000	0.62120	TAT		PASS	0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		92	125	92	125	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231403566	231403566	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:231403566C>T	ENST00000366647.4	+	9	1365	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	GNPAT_ENST00000366646.3_Missense_Mutation_p.S338F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	399					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.S399F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AACCGGCCATCCATGGACTTT	0.458																																						uc001hup.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1195-1197)TCC>TTC		glyceronephosphate O-acyltransferase							101.0	97.0	98.0					1																	231403566		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231403566C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1196C>T	1.37:g.231403566C>T	ENSP00000355607:p.Ser399Phe					GNPAT_uc009xfp.2_Missense_Mutation_p.S338F	p.S399F	NM_014236	NP_055051	O15228	GNPAT_HUMAN			9	1402	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	399					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1196C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348791	0.41599	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.49139	0.79;0.79;0.79	5.09	0.648	0.17801	.	0.326021	0.30704	N	0.009042	T	0.46288	0.1385	M	0.62723	1.935	0.25764	N	0.984915	P;P	0.44344	0.833;0.748	B;B	0.42882	0.252;0.401	T	0.50857	-0.8778	10	0.72032	D	0.01	.	13.079	0.59102	0.1111:0.4563:0.4326:0.0	.	338;399	B4DNM9;O15228	.;GNPAT_HUMAN	F	399;338;389	ENSP00000355607:S399F;ENSP00000355606:S338F;ENSP00000411640:S389F	ENSP00000355606:S338F	S	+	2	0	GNPAT	229470189	0.981000	0.34729	0.919000	0.36401	0.909000	0.53808	1.660000	0.37397	0.495000	0.27882	0.591000	0.81541	TCC		PASS	0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			84	74	84	74	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234614038	234614038	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:234614038G>T	ENST00000040877.1	-	1	811	c.812C>A	c.(811-813)gCg>gAg	p.A271E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.A271E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCCAGCCCCGCCTGCACCGT	0.786																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(811-813)GCG>GAG		TAR RNA binding protein 1							5.0	6.0	5.0					1																	234614038		1525	3290	4815	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234614038G>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.812C>A	1.37:g.234614038G>T	ENSP00000040877:p.Ala271Glu						p.A271E	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		1	812	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	271					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.812C>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	7.592	0.670907	0.14776	.	.	ENSG00000059588	ENST00000040877	T	0.05025	3.51	4.52	1.25	0.21368	.	0.391294	0.25532	N	0.030037	T	0.04588	0.0125	L	0.36672	1.1	0.25657	N	0.986045	B	0.26602	0.154	B	0.16289	0.015	T	0.41980	-0.9478	10	0.07175	T	0.84	-23.4473	12.7357	0.57222	0.0:0.0:0.4431:0.5569	.	271	Q13395	TARB1_HUMAN	E	271	ENSP00000040877:A271E	ENSP00000040877:A271E	A	-	2	0	TARBP1	232680661	0.895000	0.30542	0.948000	0.38648	0.994000	0.84299	0.234000	0.17930	0.447000	0.26695	0.484000	0.47621	GCG		PASS	0.786	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		2	2	2	2	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256727	240256727	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr1:240256727A>T	ENST00000319653.9	+	1	1548	c.1318A>T	c.(1318-1320)Agc>Tgc	p.S440C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	440					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.S583C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTAATCAGAGCCCCAGGAT	0.662																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1318-1320)AGC>TGC		formin 2							49.0	57.0	54.0					1																	240256727		2200	4297	6497	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256727A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1318A>T	1.37:g.240256727A>T	ENSP00000318884:p.Ser440Cys					FMN2_uc010pye.1_Missense_Mutation_p.S440C	p.S440C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1543	+	Ovarian(103;0.127)	all_cancers(173;0.013)	440					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1318A>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605658	0.46527	.	.	ENSG00000155816	ENST00000319653	D	0.81659	-1.52	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86160	0.1593	10	0.87932	D	0	.	13.975	0.64268	1.0:0.0:0.0:0.0	.	440	Q9NZ56	FMN2_HUMAN	C	440	ENSP00000318884:S440C	ENSP00000318884:S440C	S	+	1	0	FMN2	238323350	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.425000	0.66470	1.877000	0.54381	0.460000	0.39030	AGC		PASS	0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		42	64	42	64	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1812859	1812859	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:1812859C>T	ENST00000399161.2	-	22	3908	c.3161G>A	c.(3160-3162)cGg>cAg	p.R1054Q	MYT1L_ENST00000407844.1_Missense_Mutation_p.R50Q|MYT1L_ENST00000428368.2_Missense_Mutation_p.R1052Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1054					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1054Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTGCTGGCCCGCTGTTTGAT	0.597																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3160-3162)CGG>CAG		myelin transcription factor 1-like							97.0	105.0	103.0					2																	1812859		2146	4253	6399	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1812859C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3161G>A	2.37:g.1812859C>T	ENSP00000382114:p.Arg1054Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.R1052Q|MYT1L_uc010ewk.2_Missense_Mutation_p.R50Q	p.R1054Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	22	3988	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1054					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3161G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.098487	0.56183	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.53423	0.63;1.66;0.62	5.24	5.24	0.73138	.	0.196840	0.43260	D	0.000589	T	0.36717	0.0977	L	0.31752	0.955	0.47183	D	0.999349	B;B;P	0.34615	0.005;0.33;0.459	B;B;B	0.21708	0.001;0.016;0.036	T	0.33369	-0.9871	10	0.59425	D	0.04	-9.1734	18.8228	0.92105	0.0:1.0:0.0:0.0	.	50;1054;1052	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	Q	1054;1000;50;108;1052	ENSP00000382114:R1054Q;ENSP00000382111:R108Q;ENSP00000396103:R1052Q	ENSP00000295067:R1000Q	R	-	2	0	MYT1L	1791866	0.996000	0.38824	0.995000	0.50966	0.810000	0.45777	2.982000	0.49337	2.439000	0.82584	0.655000	0.94253	CGG		PASS	0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	129	10	129	---	---	---	---
DRC1	92749	broad.mit.edu	37	2	26624930	26624930	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:26624930C>T	ENST00000288710.2	+	1	147	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	25					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.P25S(1)									GATTCTCGCGCCCTCGGTCCA	0.701																																						uc002rhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CCC>TCC		hypothetical protein LOC92749							34.0	30.0	31.0					2																	26624930		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26624930C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.73C>T	2.37:g.26624930C>T	ENSP00000288710:p.Pro25Ser					C2orf39_uc010eym.1_RNA	p.P25S	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			1	147	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.73C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630228	0.87660	.	.	ENSG00000157856	ENST00000288710	T	0.26067	1.76	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000014	T	0.50718	0.1632	M	0.73962	2.25	0.43010	D	0.994549	D	0.89917	1.0	D	0.97110	1.0	T	0.52749	-0.8534	10	0.66056	D	0.02	-19.0176	13.9654	0.64205	0.0:1.0:0.0:0.0	.	25	Q96MC2	CC164_HUMAN	S	25	ENSP00000288710:P25S	ENSP00000288710:P25S	P	+	1	0	CCDC164	26478434	0.992000	0.36948	0.963000	0.40424	0.028000	0.11728	3.541000	0.53618	2.662000	0.90505	0.650000	0.86243	CCC		PASS	0.701	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		13	28	13	28	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32361636	32361636	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:32361636G>C	ENST00000315285.3	+	10	1375	c.1250G>C	c.(1249-1251)gGa>gCa	p.G417A	SPAST_ENST00000345662.1_Missense_Mutation_p.G385A	NM_014946.3	NP_055761.2			spastin									p.G417A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTAGGTGGGAGAAGGAGAG	0.308																																						uc002roc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1	GRCh37	CM090379	SPAST	M		c.(1249-1251)GGA>GCA		spastin isoform 1							121.0	124.0	123.0					2																	32361636		2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32361636G>C	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1250G>C	2.37:g.32361636G>C	ENSP00000320885:p.Gly417Ala					SPAST_uc002rod.2_Missense_Mutation_p.G385A	p.G417A	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			10	1471	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		417			Sufficient for microtubule severing.			Missense_Mutation	SNP	ENST00000315285.3	37	c.1250G>C	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311151	0.81358	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.94966	-3.57;-3.57	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.998;0.999	D	0.97252	0.9898	10	0.59425	D	0.04	-4.5504	17.4494	0.87588	0.0:0.0:1.0:0.0	.	385;417	E5KRP6;Q9UBP0	.;SPAST_HUMAN	A	385;417	ENSP00000340817:G385A;ENSP00000320885:G417A	ENSP00000320885:G417A	G	+	2	0	SPAST	32215140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.422000	0.90262	2.660000	0.90430	0.655000	0.94253	GGA		PASS	0.308	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		69	149	69	149	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40387975	40387975	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:40387975T>C	ENST00000403092.1	-	9	2232	c.2199A>G	c.(2197-2199)acA>acG	p.T733T	SLC8A1_ENST00000332839.4_Silent_p.T733T|SLC8A1_ENST00000405269.1_Silent_p.T697T|SLC8A1_ENST00000406785.2_Silent_p.T697T|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.T728T|SLC8A1_ENST00000408028.2_Silent_p.T725T|SLC8A1_ENST00000406391.2_Silent_p.T697T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.T728T|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.T697T|SLC8A1_ENST00000542024.1_Silent_p.T697T|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	733					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T733T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGGCCAGGTTTGTCTTCTTAA	0.413																																						uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2197-2199)ACA>ACG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						134.0	129.0	131.0					2																	40387975		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40387975T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2199A>G	2.37:g.40387975T>C						uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.T728T|SLC8A1_uc002rrz.2_Silent_p.T720T|SLC8A1_uc002rsa.2_Silent_p.T697T|SLC8A1_uc002rsd.3_Silent_p.T697T	p.T733T	NM_021097	NP_066920	P32418	NAC1_HUMAN			8	2223	-			733			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2199A>G	CCDS1806.1																																																																																				PASS	0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		64	98	64	98	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656127	40656127	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:40656127T>A	ENST00000403092.1	-	2	1327	c.1294A>T	c.(1294-1296)Aga>Tga	p.R432*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000406785.2_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.R432*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.R432*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	432	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R432*(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCACCTCTGCGGATAATG	0.433																																						uc002rrx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1294-1296)AGA>TGA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						97.0	84.0	89.0					2																	40656127		2203	4300	6503	SO:0001587	stop_gained	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656127T>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1294A>T	2.37:g.40656127T>A	ENSP00000384763:p.Arg432*					SLC8A1_uc002rry.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.R432*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.R432*	p.R432*	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1318	-			432			Calx-beta 1.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	ENST00000403092.1	37	c.1294A>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	37	6.381863	0.97520	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	.	.	.	6.17	-3.31	0.04988	.	0.085531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6215	0.95658	0.0:0.0:0.7729:0.2271	.	.	.	.	X	432	.	ENSP00000332931:R432X	R	-	1	2	SLC8A1	40509631	0.937000	0.31787	0.974000	0.42286	0.999000	0.98932	2.040000	0.41203	-0.376000	0.07943	0.533000	0.62120	AGA		PASS	0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		65	112	65	112	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43926841	43926841	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:43926841C>T	ENST00000282406.4	+	8	854	c.744C>T	c.(742-744)ggC>ggT	p.G248G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	248					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.G248G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAACAGAGGCCAGAGAACAT	0.418																																						uc010yny.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(742-744)GGC>GGT		pleckstrin homology domain containing, family H							81.0	87.0	85.0					2																	43926841		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926841C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.744C>T	2.37:g.43926841C>T						PLEKHH2_uc002rte.3_Silent_p.G248G|PLEKHH2_uc002rtf.3_Silent_p.G247G	p.G248G	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	827	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	248					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.744C>T	CCDS1812.1																																																																																				PASS	0.418	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		26	147	26	147	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48059965	48059965	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:48059965T>A	ENST00000403359.3	-	9	1168	c.1096A>T	c.(1096-1098)Att>Ttt	p.I366F	FBXO11_ENST00000402508.1_Missense_Mutation_p.I282F|FBXO11_ENST00000316377.4_Missense_Mutation_p.I282F|FBXO11_ENST00000434523.2_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	366					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.I282F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTACTGTAATCTCTAAGCAG	0.313			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	ovary(1)|lung(1)	2						c.(844-846)ATT>TTT		F-box only protein 11 isoform 1							168.0	155.0	159.0					2																	48059965		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059965T>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1096A>T	2.37:g.48059965T>A	ENSP00000384823:p.Ile366Phe					FBXO11_uc002rwe.2_Missense_Mutation_p.I282F|FBXO11_uc002rwf.2_Missense_Mutation_p.I282F|FBXO11_uc002rwg.1_Missense_Mutation_p.I282F|FBXO11_uc010fbk.2_5'Flank	p.I282F	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	958	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	366					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.844A>T	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657164|4.657164	0.88154|0.88154	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377	.|T;T;T	.|0.57273	.|0.41;0.88;0.41	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68714|0.68714	0.3031|0.3031	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P	.|0.44877	.|0.845	.|P	.|0.59288	.|0.855	T|T	0.70382|0.70382	-0.4887|-0.4887	5|10	.|0.72032	.|D	.|0.01	-0.0118|-0.0118	16.4534|16.4534	0.84003|0.84003	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|366	.|Q86XK2	.|FBX11_HUMAN	V|F	157|282;366;282	.|ENSP00000385398:I282F;ENSP00000384823:I366F;ENSP00000323822:I282F	.|ENSP00000323822:I282F	D|I	-|-	2|1	0|0	FBXO11|FBXO11	47913469|47913469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.040000|8.040000	0.89188|0.89188	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	GAT|ATT		PASS	0.313	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		43	288	43	288	---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58425768	58425768	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:58425768C>A	ENST00000233741.4	-	7	537	c.501G>T	c.(499-501)gtG>gtT	p.V167V	FANCL_ENST00000403676.1_Silent_p.V50V|FANCL_ENST00000403295.3_Silent_p.V167V|FANCL_ENST00000402135.3_Silent_p.V167V|FANCL_ENST00000540646.1_Intron	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	167	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V167V(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CAGGAAAATCCACAAAATAAT	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002rzw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(499-501)GTG>GTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group L isoform							61.0	64.0	63.0					2																	58425768		2203	4300	6503	SO:0001819	synonymous_variant	55120	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58425768C>A	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.501G>T	2.37:g.58425768C>A						FANCL_uc002rzx.3_Silent_p.V167V|FANCL_uc010fce.2_Silent_p.V167V|FANCL_uc010fcf.1_Silent_p.V108V	p.V167V	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN			7	568	-			167					Q6GU60	Silent	SNP	ENST00000233741.4	37	c.501G>T	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064523	0.20067	.	.	ENSG00000115392	ENST00000427708	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3092	14.6599	0.68861	0.1454:0.8546:0.0:0.0	.	.	.	.	X	167	.	.	G	-	1	0	FANCL	58279272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.996000	0.29719	2.759000	0.94783	0.563000	0.77884	GGA		PASS	0.323	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		33	56	33	56	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65298860	65298860	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:65298860C>A	ENST00000377990.2	+	3	833	c.630C>A	c.(628-630)caC>caA	p.H210Q	CEP68_ENST00000260569.4_Missense_Mutation_p.H210Q|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.H210Q	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	210					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.H210Q(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCCAGGGTCACCAGGAGAGGG	0.647																																						uc002sdl.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(628-630)CAC>CAA		centrosomal protein 68kDa							47.0	49.0	48.0					2																	65298860		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298860C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.630C>A	2.37:g.65298860C>A	ENSP00000367229:p.His210Gln					CEP68_uc002sdj.2_Missense_Mutation_p.H210Q|CEP68_uc010yqb.1_Missense_Mutation_p.H210Q|CEP68_uc002sdk.3_Missense_Mutation_p.H210Q|CEP68_uc010yqc.1_Missense_Mutation_p.H210Q|CEP68_uc010yqd.1_Missense_Mutation_p.H210Q	p.H210Q	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			3	844	+			210					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.630C>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	3.654	-0.070861	0.07228	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.14893	2.48;2.47;2.47	5.18	-1.61	0.08399	.	0.641375	0.15242	N	0.272847	T	0.08626	0.0214	N	0.19112	0.55	0.18873	N	0.999985	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002	B;B;B;B;B	0.10450	0.003;0.003;0.004;0.003;0.005	T	0.22871	-1.0204	10	0.49607	T	0.09	-0.0632	4.5422	0.12064	0.2245:0.2378:0.4578:0.08	.	198;210;210;210;210	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	Q	210;210;210;198	ENSP00000367229:H210Q;ENSP00000438306:H210Q;ENSP00000260569:H210Q	ENSP00000260569:H210Q	H	+	3	2	CEP68	65152364	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.538000	0.06120	-0.168000	0.10853	-1.398000	0.01145	CAC		PASS	0.647	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		3	104	3	104	---	---	---	---
FAM136A	84908	broad.mit.edu	37	2	70528037	70528037	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:70528037C>A	ENST00000037869.3	-	2	241	c.163G>T	c.(163-165)Gag>Tag	p.E55*	FAM136A_ENST00000430566.1_Nonsense_Mutation_p.E162*|AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	55						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.E55Q(1)|p.E55*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGCAGCGCTCGATGCACTGG	0.572																																						uc002sgq.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(163-165)GAG>TAG		hypothetical protein LOC84908							100.0	101.0	101.0					2																	70528037		2203	4300	6503	SO:0001587	stop_gained	84908					mitochondrion	protein binding	g.chr2:70528037C>A	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.163G>T	2.37:g.70528037C>A	ENSP00000037869:p.Glu55*					FAM136A_uc010fdp.2_RNA	p.E55*	NM_032822	NP_116211	Q96C01	F136A_HUMAN			2	240	-			55					Q96SS3	Nonsense_Mutation	SNP	ENST00000037869.3	37	c.163G>T	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183028	0.78677	.	.	ENSG00000035141	ENST00000037869;ENST00000430566;ENST00000438759	.	.	.	5.01	5.01	0.66863	.	0.153716	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.2464	0.87029	0.0:1.0:0.0:0.0	.	.	.	.	X	55;162;125	.	ENSP00000037869:E55X	E	-	1	0	FAM136A	70381541	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.261000	0.78400	2.475000	0.83589	0.555000	0.69702	GAG		PASS	0.572	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		5	319	5	319	---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73477477	73477477	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:73477477T>C	ENST00000258091.5	+	10	1255	c.1114T>C	c.(1114-1116)Ttc>Ctc	p.F372L	CCT7_ENST00000537131.1_Missense_Mutation_p.F272L|CCT7_ENST00000539919.1_Missense_Mutation_p.F328L|CCT7_ENST00000540468.1_Missense_Mutation_p.F285L|CCT7_ENST00000538797.1_Missense_Mutation_p.F244L|CCT7_ENST00000398422.2_Missense_Mutation_p.F168L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	372					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.F168L(1)|p.F372L(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GACATGCACCTTCATTCTCCG	0.527																																						uc002siz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1114-1116)TTC>CTC		chaperonin containing TCP1, subunit 7 isoform a							131.0	142.0	139.0					2																	73477477		2053	4201	6254	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73477477T>C	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1114T>C	2.37:g.73477477T>C	ENSP00000258091:p.Phe372Leu					CCT7_uc002sja.2_Missense_Mutation_p.F168L|CCT7_uc010yrf.1_Missense_Mutation_p.F328L|CCT7_uc010feu.2_Missense_Mutation_p.F330L|CCT7_uc010yrg.1_Missense_Mutation_p.F272L|CCT7_uc010yrh.1_Missense_Mutation_p.F244L|CCT7_uc010yri.1_Missense_Mutation_p.F285L	p.F372L	NM_006429	NP_006420	Q99832	TCPH_HUMAN			10	1216	+			372					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.1114T>C	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306518	0.23736	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.78	2.31	0.28768	.	0.094216	0.64402	D	0.000001	T	0.39358	0.1075	N	0.00652	-1.29	0.29102	N	0.881429	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.001;0.004	T	0.34378	-0.9831	10	0.22109	T	0.4	-7.7687	9.781	0.40649	0.7792:0.0:0.0:0.2208	.	285;244;272;330;168;372	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	L	285;328;372;168;272;244;330	ENSP00000442058:F285L;ENSP00000437824:F328L;ENSP00000258091:F372L;ENSP00000381456:F168L;ENSP00000444379:F272L;ENSP00000438462:F244L	ENSP00000258091:F372L	F	+	1	0	CCT7	73330985	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	4.130000	0.57964	0.387000	0.25024	0.482000	0.46254	TTC		PASS	0.527	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			98	156	98	156	---	---	---	---
IGKV1D-16	28901	broad.mit.edu	37	2	90139137	90139137	+	RNA	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:90139137G>C	ENST00000492446.1	+	0	60									immunoglobulin kappa variable 1D-16																		AGCTCCTGGGGCTCCTGCTGC	0.517																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							142.0	146.0	144.0					2																	90139137		1902	4120	6022			0							g.chr2:90139137G>C	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139137G>C														17		+									RNA	SNP	ENST00000492446.1	37	c.2049G>C																																																																																					PASS	0.517	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		9	417	9	417	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141643896	141643896	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:141643896C>T	ENST00000389484.3	-	24	4746	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1259					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E1259*(1)|p.E1259K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGAATGCTTCAAAAGGATCT	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3775-3777)GAA>AAA		low density lipoprotein-related protein 1B							48.0	49.0	49.0					2																	141643896		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643896C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3775G>A	2.37:g.141643896C>T	ENSP00000374135:p.Glu1259Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.E441K	p.E1259K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4747	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1259			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3775G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479156	0.44044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.93247	-2.58;-3.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	L	0.35593	1.075	0.58432	D	0.999999	B;D	0.67145	0.058;0.996	B;P	0.57620	0.047;0.824	D	0.89868	0.4021	10	0.12430	T	0.62	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	442;1259	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1259;1197;404	ENSP00000374135:E1259K;ENSP00000413239:E404K	ENSP00000374135:E1259K	E	-	1	0	LRP1B	141360366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.797000	0.62503	2.730000	0.93505	0.650000	0.86243	GAA		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		23	67	23	67	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149850999	149850999	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:149850999T>A	ENST00000435030.1	+	17	2338	c.1970T>A	c.(1969-1971)cTa>cAa	p.L657Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.L425Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.L562Q			O60282	KIF5C_HUMAN	kinesin family member 5C	657					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L657Q(1)|p.L560Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGGAGGCAGCTAGAAGAGTCC	0.493																																						uc010zbu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1969-1971)CTA>CAA		kinesin family member 5C							38.0	42.0	41.0					2																	149850999		1984	4155	6139	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149850999T>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1970T>A	2.37:g.149850999T>A	ENSP00000393379:p.Leu657Gln					KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.L209Q	p.L657Q	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	17	2338	+			657					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.1970T>A		.	.	.	.	.	.	.	.	.	.	T	27.9	4.870211	0.91587	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.86030	-2.06;-2.06;-2.06	5.35	5.35	0.76521	.	0.176668	0.38436	N	0.001692	D	0.91915	0.7440	.	.	.	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.92137	0.5717	8	.	.	.	.	15.5051	0.75731	0.0:0.0:0.0:1.0	.	657;223	O60282;Q3LIE3	KIF5C_HUMAN;.	Q	657;562;560;425	ENSP00000393379:L657Q;ENSP00000410115:L562Q;ENSP00000380560:L425Q	.	L	+	2	0	KIF5C	149559245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.864000	0.87037	2.235000	0.73313	0.533000	0.62120	CTA		PASS	0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		4	4	4	4	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152520196	152520196	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:152520196T>A	ENST00000172853.10	-	45	5776	c.5629A>T	c.(5629-5631)Agt>Tgt	p.S1877C	NEB_ENST00000409198.1_Missense_Mutation_p.S1877C|NEB_ENST00000603639.1_Missense_Mutation_p.S1877C|NEB_ENST00000397345.3_Missense_Mutation_p.S1877C|NEB_ENST00000604864.1_Missense_Mutation_p.S1877C|NEB_ENST00000427231.2_Missense_Mutation_p.S1877C			P20929	NEBU_HUMAN	nebulin	1877					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S1877C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCACCACACTGAGCATGTCC	0.517																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5629-5631)AGT>TGT		nebulin isoform 3							121.0	114.0	116.0					2																	152520196		2079	4210	6289	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152520196T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5629A>T	2.37:g.152520196T>A	ENSP00000172853:p.Ser1877Cys						p.S1877C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5820	-			1877			Nebulin 49.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5629A>T		.	.	.	.	.	.	.	.	.	.	T	20.0	3.931395	0.73442	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.55	5.55	0.83447	.	0.042447	0.85682	D	0.000000	T	0.62270	0.2414	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66192	-0.5985	10	0.62326	D	0.03	.	15.9859	0.80151	0.0:0.0:0.0:1.0	.	1877	P20929	NEBU_HUMAN	C	1877	ENSP00000386259:S1877C;ENSP00000380505:S1877C;ENSP00000416578:S1877C;ENSP00000172853:S1877C	ENSP00000172853:S1877C	S	-	1	0	NEB	152228442	1.000000	0.71417	0.974000	0.42286	0.691000	0.40173	7.997000	0.88414	2.237000	0.73441	0.528000	0.53228	AGT		PASS	0.517	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	56	4	56	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206050578	206050578	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:206050578A>T	ENST00000406610.2	+	14	2222	c.2015A>T	c.(2014-2016)tAc>tTc	p.Y672F	PARD3B_ENST00000462231.1_Missense_Mutation_p.Y672F|PARD3B_ENST00000358768.2_Missense_Mutation_p.Y610F|PARD3B_ENST00000351153.1_Missense_Mutation_p.Y672F|PARD3B_ENST00000349953.3_Missense_Mutation_p.Y672F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	672					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.Y672F(1)|p.Y611F(1)|p.Y610F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTCGAAGATTACAGCCACAGG	0.423																																						uc002var.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(2014-2016)TAC>TTC		par-3 partitioning defective 3 homolog B isoform							123.0	111.0	115.0					2																	206050578		1928	4141	6069	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206050578A>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2015A>T	2.37:g.206050578A>T	ENSP00000385848:p.Tyr672Phe					PARD3B_uc010fub.1_Missense_Mutation_p.Y672F|PARD3B_uc002vao.1_Missense_Mutation_p.Y672F|PARD3B_uc002vap.1_Missense_Mutation_p.Y610F|PARD3B_uc002vaq.1_Missense_Mutation_p.Y672F	p.Y672F	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	14	2222	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	672					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2015A>T		.	.	.	.	.	.	.	.	.	.	A	5.884	0.347251	0.11126	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.11169	3.0;2.8;3.0;3.01	5.87	3.48	0.39840	.	0.264524	0.34338	N	0.004049	T	0.05181	0.0138	N	0.16903	0.455	0.23095	N	0.998304	B;B;B;B;B	0.12013	0.004;0.005;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.006;0.004;0.002;0.004;0.004	T	0.42275	-0.9461	10	0.10902	T	0.67	.	5.337	0.15963	0.7547:0.0:0.0832:0.1621	.	672;672;672;610;672	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	F	672;610;672;672	ENSP00000385848:Y672F;ENSP00000351618:Y610F;ENSP00000317261:Y672F;ENSP00000340280:Y672F	ENSP00000340280:Y672F	Y	+	2	0	PARD3B	205758823	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	1.485000	0.35519	1.008000	0.39264	0.533000	0.62120	TAC		PASS	0.423	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		62	78	62	78	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216269278	216269278	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:216269278C>T	ENST00000359671.1	-	20	3352	c.3087G>A	c.(3085-3087)ctG>ctA	p.L1029L	FN1_ENST00000443816.1_Silent_p.L1029L|FN1_ENST00000336916.4_Silent_p.L1029L|FN1_ENST00000346544.3_Silent_p.L1029L|FN1_ENST00000357009.2_Silent_p.L1029L|FN1_ENST00000421182.1_Silent_p.L1029L|FN1_ENST00000345488.5_Silent_p.L1029L|FN1_ENST00000357867.4_Silent_p.L1029L|FN1_ENST00000446046.1_Silent_p.L1029L|FN1_ENST00000356005.4_Silent_p.L1029L|FN1_ENST00000354785.4_Silent_p.L1029L|FN1_ENST00000432072.2_Silent_p.L1029L|FN1_ENST00000323926.6_Silent_p.L1029L			P02751	FINC_HUMAN	fibronectin 1	1029	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.L1029L(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCCCACGGTCAGTCGGTATC	0.537																																						uc002vfa.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3085-3087)CTG>CTA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	108.0	111.0					2																	216269278		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269278C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3087G>A	2.37:g.216269278C>T						FN1_uc002vfb.2_Silent_p.L1029L|FN1_uc002vfc.2_Silent_p.L1029L|FN1_uc002vfd.2_Silent_p.L1029L|FN1_uc002vfe.2_Silent_p.L1029L|FN1_uc002vff.2_Silent_p.L1029L|FN1_uc002vfg.2_Silent_p.L1029L|FN1_uc002vfh.2_Silent_p.L1029L|FN1_uc002vfi.2_Silent_p.L1029L|FN1_uc002vfj.2_Silent_p.L1029L	p.L1029L	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3353	-		Renal(323;0.127)	1029			|Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.3087G>A																																																																																					PASS	0.537	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	147	35	147	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219254677	219254677	+	Missense_Mutation	SNP	G	G	A	rs140981969		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr2:219254677G>A	ENST00000233202.6	+	9	1220	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	SLC11A1_ENST00000539932.1_Missense_Mutation_p.V176I	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	294					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.V294I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCCCTGTCCGTCTCCTTTAT	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20662	0.0		0.0	False		,,,				2504	0.0					uc002vhv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(880-882)GTC>ATC		natural resistance-associated macrophage protein		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	200.0	148.0	166.0		880	5.1	1.0	2	dbSNP_134	166	0,8600		0,0,4300	yes	missense	SLC11A1	NM_000578.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	294/551	219254677	2,13004	2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219254677G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.880G>A	2.37:g.219254677G>A	ENSP00000233202:p.Val294Ile					SLC11A1_uc010fvp.1_Missense_Mutation_p.V294I|SLC11A1_uc010fvq.1_Missense_Mutation_p.V227I|SLC11A1_uc010zkc.1_Missense_Mutation_p.V227I|SLC11A1_uc002vhu.1_Missense_Mutation_p.V89I|SLC11A1_uc002vhw.2_Missense_Mutation_p.V176I|SLC11A1_uc010fvr.2_Missense_Mutation_p.V89I	p.V294I	NM_000578	NP_000569	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1220	+		Renal(207;0.0474)	294			Helical; (Potential).		C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.880G>A	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741357	0.69304	4.54E-4	0.0	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.69806	-0.43;-0.43	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000002	T	0.54711	0.1875	N	0.25031	0.7	0.80722	D	1	B;B;B	0.31435	0.323;0.171;0.171	B;B;B	0.30251	0.079;0.113;0.113	T	0.52449	-0.8574	10	0.30854	T	0.27	-42.79	18.704	0.91631	0.0:0.0:1.0:0.0	.	294;176;294	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	I	294;176	ENSP00000233202:V294I;ENSP00000443435:V176I	ENSP00000233202:V294I	V	+	1	0	SLC11A1	218962921	1.000000	0.71417	0.953000	0.39169	0.925000	0.55904	4.401000	0.59716	2.650000	0.89964	0.561000	0.74099	GTC		PASS	0.547	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		23	40	23	40	---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3143397	3143397	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:3143397C>A	ENST00000446632.2	-	5	920	c.346G>T	c.(346-348)Gct>Tct	p.A116S	SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000383846.1_Missense_Mutation_p.A116S|IL5RA_ENST00000456302.1_Missense_Mutation_p.A116S|IL5RA_ENST00000438560.1_Missense_Mutation_p.A116S|IL5RA_ENST00000311981.8_Missense_Mutation_p.A116S|IL5RA_ENST00000418488.2_Missense_Mutation_p.A116S|IL5RA_ENST00000430514.2_Missense_Mutation_p.A116S|IL5RA_ENST00000445864.2_Missense_Mutation_p.A116S|IL5RA_ENST00000256452.3_Missense_Mutation_p.A116S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	116	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.A116S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAAGTTCAGCAGAAGCCCAG	0.463																																					GBM(169;430 2801 24955 28528)	uc011ask.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)GCT>TCT		interleukin 5 receptor, alpha isoform 1							102.0	97.0	99.0					3																	3143397		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3143397C>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.346G>T	3.37:g.3143397C>A	ENSP00000412209:p.Ala116Ser					IL5RA_uc010hbq.2_Missense_Mutation_p.A116S|IL5RA_uc010hbr.2_Missense_Mutation_p.A116S|IL5RA_uc010hbs.2_Missense_Mutation_p.A116S|IL5RA_uc011asl.1_Missense_Mutation_p.A116S|IL5RA_uc011asm.1_Missense_Mutation_p.A116S|IL5RA_uc010hbt.2_Missense_Mutation_p.A116S|IL5RA_uc011asn.1_Missense_Mutation_p.A116S|IL5RA_uc010hbu.2_Missense_Mutation_p.A116S	p.A116S	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	6	990	-			116			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.346G>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502761	0.44558	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;T;T;T;T;T;T;T	0.88277	-2.36;-2.27;-2.36;1.17;1.51;1.17;1.17;1.17;1.17;1.39	5.19	4.31	0.51392	.	0.092615	0.47093	D	0.000243	D	0.92945	0.7755	M	0.74258	2.255	0.33318	D	0.566962	D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.967;0.979;0.979;0.953;0.996;0.94	D	0.93813	0.7112	10	0.38643	T	0.18	-20.5317	10.4391	0.44455	0.0:0.9092:0.0:0.0908	.	116;116;116;116;116;116	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	S	116	ENSP00000412209:A116S;ENSP00000390753:A116S;ENSP00000256452:A116S;ENSP00000388858:A116S;ENSP00000402598:A116S;ENSP00000373358:A116S;ENSP00000309196:A116S;ENSP00000400400:A116S;ENSP00000392059:A116S;ENSP00000398117:A116S	ENSP00000256452:A116S	A	-	1	0	IL5RA	3118397	0.992000	0.36948	0.070000	0.20053	0.180000	0.23129	1.424000	0.34848	1.194000	0.43101	0.650000	0.86243	GCT		PASS	0.463	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			21	87	21	87	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7721755	7721755	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:7721755C>T	ENST00000357716.4	+	9	2745	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	GRM7_ENST00000389336.4_Missense_Mutation_p.T824M|GRM7_ENST00000403881.1_Missense_Mutation_p.T824M|GRM7_ENST00000402647.2_Missense_Mutation_p.T824M|GRM7_ENST00000486284.1_Missense_Mutation_p.T824M	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	824					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.T824M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAAACTACCACGCTTACAATC	0.438																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(2470-2472)ACG>ATG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						100.0	87.0	92.0					3																	7721755		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721755C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2471C>T	3.37:g.7721755C>T	ENSP00000350348:p.Thr824Met					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.T824M|GRM7_uc003bql.2_Missense_Mutation_p.T824M|GRM7_uc003bqn.1_Missense_Mutation_p.T407M	p.T824M	NM_000844	NP_000835	Q14831	GRM7_HUMAN			9	2745	+			824			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2471C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134505	0.56828	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	4.97	4.97	0.65823	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	L	0.49455	1.56	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.989	D;D;D;P	0.87578	0.996;0.957;0.998;0.659	D	0.91807	0.5456	10	0.54805	T	0.06	.	17.157	0.86794	0.0:1.0:0.0:0.0	.	824;579;824;824	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	M	824	ENSP00000350348:T824M;ENSP00000417536:T824M;ENSP00000373987:T824M;ENSP00000385664:T824M;ENSP00000384585:T824M	ENSP00000350348:T824M	T	+	2	0	GRM7	7696755	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.776000	0.85560	2.456000	0.83038	0.585000	0.79938	ACG		PASS	0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		26	56	26	56	---	---	---	---
CAMK1	8536	broad.mit.edu	37	3	9803340	9803340	+	Silent	SNP	G	G	C	rs377236766		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:9803340G>C	ENST00000256460.3	-	6	708	c.531C>G	c.(529-531)acC>acG	p.T177T	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.T177T(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCCACAGGCGGTGGAGAGCA	0.587																																						uc003bst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(529-531)ACC>ACG		calcium/calmodulin-dependent protein kinase I							69.0	71.0	71.0					3																	9803340		2203	4300	6503	SO:0001819	synonymous_variant	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9803340G>C	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.531C>G	3.37:g.9803340G>C						OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	p.T177T	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	6	709	-	Medulloblastoma(99;0.227)		177	T->A: Loss of activation by CaMKK1.|T->D: Partial activation in absence of CaMKK1.		Protein kinase.		Q3KPF6	Silent	SNP	ENST00000256460.3	37	c.531C>G	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	5.313	0.243053	0.10077	.	.	ENSG00000134072	ENST00000421120	.	.	.	4.88	-9.76	0.00503	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38779	-0.9645	4	.	.	.	-12.2324	1.3848	0.02238	0.3171:0.283:0.2381:0.1618	.	.	.	.	G	24	.	.	R	-	1	0	CAMK1	9778340	0.000000	0.05858	0.670000	0.29842	0.672000	0.39443	-4.339000	0.00250	-2.083000	0.00867	-0.768000	0.03414	CGC		PASS	0.587	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		28	69	28	69	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36485038	36485038	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:36485038G>T	ENST00000273183.3	+	2	594	c.294G>T	c.(292-294)agG>agT	p.R98S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R98S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	98					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.R98S(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CACCCGCCAGGGCTGGTCTGC	0.557																																						uc003cgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(292-294)AGG>AGT		SH3 and cysteine rich domain							112.0	103.0	106.0					3																	36485038		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36485038G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.294G>T	3.37:g.36485038G>T	ENSP00000273183:p.Arg98Ser					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R98S	p.R98S	NM_003149	NP_003140	Q99469	STAC_HUMAN			2	333	+			98					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.294G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291586	0.23564	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.76448	-1.02;0.93;0.78	4.49	1.69	0.24217	.	0.060908	0.64402	D	0.000008	T	0.62998	0.2474	L	0.40543	1.245	0.18873	N	0.999981	B;P	0.46706	0.067;0.883	B;B	0.41571	0.027;0.36	T	0.55854	-0.8075	10	0.10902	T	0.67	.	7.5662	0.27881	0.5094:0.0:0.4906:0.0	.	98;98	E9PEA7;Q99469	.;STAC_HUMAN	S	98;98;30;87	ENSP00000273183:R98S;ENSP00000393713:R98S;ENSP00000398403:R87S	ENSP00000273183:R98S	R	+	3	2	STAC	36460042	0.818000	0.29161	0.984000	0.44739	0.537000	0.34900	1.207000	0.32333	0.214000	0.20742	-0.259000	0.10710	AGG		PASS	0.557	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		89	122	89	122	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36763059	36763059	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:36763059C>G	ENST00000416516.2	-	3	2034	c.1544G>C	c.(1543-1545)gGg>gCg	p.G515A	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	515	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G515A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGTTGGGGTCCCACACACAGT	0.408																																						uc003cgi.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1543-1545)GGG>GCG		doublecortin-like kinase 3							136.0	133.0	134.0					3																	36763059		1909	4131	6040	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36763059C>G	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1544G>C	3.37:g.36763059C>G	ENSP00000394484:p.Gly515Ala						p.G515A	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			3	2035	-			515			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1544G>C	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808504	0.90707	.	.	ENSG00000163673	ENST00000416516	T	0.57752	0.38	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33419	N	0.004921	T	0.81494	0.4834	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85944	0.1460	10	0.87932	D	0	.	19.9884	0.97356	0.0:1.0:0.0:0.0	.	515	Q9C098	DCLK3_HUMAN	A	515	ENSP00000394484:G515A	ENSP00000394484:G515A	G	-	2	0	DCLK3	36738063	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	GGG		PASS	0.408	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		64	227	64	227	---	---	---	---
ZNF445	353274	broad.mit.edu	37	3	44488820	44488820	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:44488820C>A	ENST00000396077.2	-	8	2690	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	ZNF445_ENST00000425708.2_Missense_Mutation_p.Q781H	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	781					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q781H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGTGAACTCTCTGATGGATGA	0.507																																						uc003cnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2341-2343)CAG>CAT		zinc finger protein 445							57.0	55.0	56.0					3																	44488820		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488820C>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2343G>T	3.37:g.44488820C>A	ENSP00000379387:p.Gln781His					ZNF445_uc011azv.1_Missense_Mutation_p.Q769H|ZNF445_uc011azw.1_Missense_Mutation_p.Q781H	p.Q781H	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	2691	-			781			C2H2-type 8.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2343G>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.058856	0.55325	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.18502	2.21;2.21	3.61	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478285	0.17864	N	0.159407	T	0.30324	0.0761	M	0.66506	2.035	0.21105	N	0.999785	P;D	0.56746	0.938;0.977	P;P	0.55161	0.77;0.77	T	0.05338	-1.0891	10	0.62326	D	0.03	.	10.7659	0.46292	0.0:0.9007:0.0:0.0993	.	769;781	B7ZKX2;P59923	.;ZN445_HUMAN	H	781	ENSP00000413073:Q781H;ENSP00000379387:Q781H	ENSP00000379387:Q781H	Q	-	3	2	ZNF445	44463824	0.000000	0.05858	0.165000	0.22776	0.881000	0.50899	0.032000	0.13732	1.111000	0.41721	0.457000	0.33378	CAG		PASS	0.507	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		3	54	3	54	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50197101	50197101	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:50197101G>T	ENST00000002829.3	+	2	530	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	SEMA3F_ENST00000434342.1_Missense_Mutation_p.A16S|SEMA3F_ENST00000413852.1_Intron	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	16					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.A16S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACTGACCGGGGCCTGGCCATC	0.602																																						uc003cyj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(46-48)GCC>TCC		semaphorin 3F precursor							60.0	57.0	58.0					3																	50197101		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50197101G>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.46G>T	3.37:g.50197101G>T	ENSP00000002829:p.Ala16Ser					SEMA3F_uc003cyk.2_Missense_Mutation_p.A16S	p.A16S	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	2	244	+			16					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.46G>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387065	0.61956	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342	T;T;T;T	0.52526	1.95;1.76;0.66;0.73	5.6	5.6	0.85130	.	0.530359	0.18811	N	0.130519	T	0.30324	0.0761	N	0.08118	0	0.31338	N	0.684045	B;B	0.28760	0.221;0.221	B;B	0.31101	0.124;0.124	T	0.22487	-1.0215	10	0.21540	T	0.41	.	15.4896	0.75593	0.0:0.0:1.0:0.0	.	16;16	C9JQ85;Q13275	.;SEM3F_HUMAN	S	16	ENSP00000392588:A16S;ENSP00000398399:A16S;ENSP00000002829:A16S;ENSP00000409859:A16S	ENSP00000002829:A16S	A	+	1	0	SEMA3F	50172105	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.901000	0.48695	2.797000	0.96272	0.655000	0.94253	GCC		PASS	0.602	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		27	49	27	49	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52621527	52621527	+	Splice_Site	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:52621527C>T	ENST00000296302.7	-	19	2967		c.e19-1		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Intron			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTTTCACCTCAAAAATGG	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Unknown(3)		lung(3)	kidney(136)|breast(4)	140						c.e19-1		polybromo 1 isoform 4							39.0	41.0	40.0					3																	52621527		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52621527C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2966-1G>A	3.37:g.52621527C>T						PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice	p.G989_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2978	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37	c.2966_splice		.	.	.	.	.	.	.	.	.	.	C	28.2	4.899385	0.91962	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52596567	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.795000	0.96236	0.655000	0.94253	.		PASS	0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	54	48	54	48	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52685796	52685796	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:52685796C>G	ENST00000296302.7	-	6	677	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	PBRM1_ENST00000409114.3_Missense_Mutation_p.E226Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E226Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E226Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.E226Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E226Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E226Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E226Q			Q86U86	PB1_HUMAN	polybromo 1	226	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.		E -> G (found in hematopoietic and lymphoid cancer cell lines). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E226Q(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTATAGGCTCCTTAATTATT	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(676-678)GAG>CAG		polybromo 1 isoform 4							133.0	128.0	130.0					3																	52685796		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52685796C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.676G>C	3.37:g.52685796C>G	ENSP00000296302:p.Glu226Gln					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E226Q|PBRM1_uc003der.2_Missense_Mutation_p.E226Q|PBRM1_uc003det.2_Missense_Mutation_p.E226Q|PBRM1_uc003deu.2_Missense_Mutation_p.E226Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E226Q|PBRM1_uc010hmk.1_Missense_Mutation_p.E226Q|PBRM1_uc003dey.2_Missense_Mutation_p.E226Q|PBRM1_uc003dez.1_Missense_Mutation_p.E226Q|PBRM1_uc003dfb.1_Missense_Mutation_p.E124Q	p.E226Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	6	688	-			226		E -> G (found in hematopoietic and lymphoid cancer cell lines).	Bromo 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.676G>C		.	.	.	.	.	.	.	.	.	.	C	25.1	4.602975	0.87157	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.45	5.45	0.79879	Bromodomain (6);Bromodomain, conserved site (1);	0.053373	0.64402	D	0.000001	T	0.42787	0.1218	L	0.33293	1	0.58432	D	0.999998	P;P;P;P;P;P;D;B;P	0.61697	0.866;0.897;0.585;0.866;0.715;0.892;0.99;0.301;0.784	P;P;B;P;P;P;P;B;B	0.59889	0.619;0.572;0.296;0.619;0.524;0.693;0.865;0.175;0.383	T	0.11867	-1.0570	10	0.37606	T	0.19	-21.3953	19.2813	0.94053	0.0:1.0:0.0:0.0	.	226;226;226;226;226;226;226;226;226	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	Q	226;226;226;226;226;226;226;226;226;170;226	ENSP00000349213:E226Q;ENSP00000378307:E226Q;ENSP00000296302:E226Q;ENSP00000338302:E226Q;ENSP00000386593:E226Q;ENSP00000386529:E226Q;ENSP00000386643:E226Q;ENSP00000386601:E226Q;ENSP00000387775:E226Q;ENSP00000397662:E170Q;ENSP00000409939:E226Q	ENSP00000296302:E226Q	E	-	1	0	PBRM1	52660836	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.177000	0.77650	2.542000	0.85734	0.655000	0.94253	GAG		PASS	0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		96	103	96	103	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52822040	52822040	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:52822040T>A	ENST00000273283.2	+	17	1987	c.1963T>A	c.(1963-1965)Tcc>Acc	p.S655T	ITIH1_ENST00000405128.3_Missense_Mutation_p.S21T|ITIH1_ENST00000537050.1_Missense_Mutation_p.S367T|ITIH1_ENST00000540715.1_Missense_Mutation_p.S513T|ITIH1_ENST00000542827.1_Intron	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	655	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S655T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCTACTCATTCCAGCTCCAA	0.617																																						uc003dfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1963-1965)TCC>ACC		inter-alpha (globulin) inhibitor H1							134.0	123.0	127.0					3																	52822040		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52822040T>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1963T>A	3.37:g.52822040T>A	ENSP00000273283:p.Ser655Thr					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.S256T|ITIH1_uc010hmo.1_Missense_Mutation_p.S209T|ITIH1_uc003dfu.2_Missense_Mutation_p.S21T	p.S655T	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	17	1987	+			655			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1963T>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	2.833	-0.242249	0.05906	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11821	4.87;4.73;4.56;4.03;2.74	3.26	-6.52	0.01872	.	1.858070	0.02167	N	0.059358	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30634	0.288;0.002;0.097;0.094	B;B;B;B	0.29077	0.098;0.005;0.016;0.026	T	0.15492	-1.0435	10	0.22706	T	0.39	-0.0199	4.8942	0.13742	0.099:0.1912:0.0987:0.6111	.	513;21;256;655	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	T	655;513;367;208;21	ENSP00000273283:S655T;ENSP00000443973:S513T;ENSP00000443847:S367T;ENSP00000395836:S208T;ENSP00000384589:S21T	ENSP00000273283:S655T	S	+	1	0	ITIH1	52797080	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.903000	0.00338	-3.369000	0.00177	-1.286000	0.01371	TCC		PASS	0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		48	212	48	212	---	---	---	---
FAM19A1	407738	broad.mit.edu	37	3	68466452	68466452	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:68466452A>G	ENST00000478136.1	+	3	631	c.141A>G	c.(139-141)atA>atG	p.I47M	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.I47M	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	47						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.I47M(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GTGAAGTGATAGCAGCACACC	0.478																																						uc003dnd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(139-141)ATA>ATG		family with sequence similarity 19 (chemokine							108.0	105.0	106.0					3																	68466452		1966	4145	6111	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68466452A>G	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.141A>G	3.37:g.68466452A>G	ENSP00000418575:p.Ile47Met					FAM19A1_uc003dne.2_Missense_Mutation_p.I47M|FAM19A1_uc003dng.2_Missense_Mutation_p.I47M	p.I47M	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	3	357	+		Lung NSC(201;0.0117)	47					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.141A>G	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441785	0.83993	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.66	-11.3	0.00108	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.54323	1.7	0.31457	N	0.670036	D	0.69078	0.997	D	0.81914	0.995	T	0.70887	-0.4750	9	0.87932	D	0	.	10.4048	0.44249	0.2674:0.4745:0.0:0.2581	.	47	Q7Z5A9	F19A1_HUMAN	M	47	.	ENSP00000418575:I47M	I	+	3	3	FAM19A1	68549142	0.002000	0.14202	0.319000	0.25293	0.981000	0.71138	-1.125000	0.03257	-2.074000	0.00877	-0.480000	0.04831	ATA		PASS	0.478	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		18	47	18	47	---	---	---	---
GPR27	2850	broad.mit.edu	37	3	71804003	71804003	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:71804003G>T	ENST00000304411.2	+	1	803	c.803G>T	c.(802-804)cGc>cTc	p.R268L	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	268					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R268L(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		cgcggcgcgcgccgccTCCTC	0.726																																						uc011bge.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)CGC>CTC		G protein-coupled receptor 27							12.0	15.0	14.0					3																	71804003		2101	4254	6355	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804003G>T	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.803G>T	3.37:g.71804003G>T	ENSP00000303149:p.Arg268Leu					EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	p.R268L	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	803	+		Prostate(10;0.00899)	268			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000304411.2	37	c.803G>T	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545265	0.65198	.	.	ENSG00000170837	ENST00000304411	T	0.44881	0.91	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.59032	0.2164	M	0.79475	2.455	0.40433	D	0.979962	D	0.67145	0.996	D	0.64410	0.925	T	0.62539	-0.6833	10	0.51188	T	0.08	.	9.728	0.40344	0.0:0.0:1.0:0.0	.	268	Q9NS67	GPR27_HUMAN	L	268	ENSP00000303149:R268L	ENSP00000303149:R268L	R	+	2	0	GPR27	71886693	0.991000	0.36638	0.970000	0.41538	0.935000	0.57460	3.977000	0.56874	1.275000	0.44379	0.299000	0.19835	CGC		PASS	0.726	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		9	13	9	13	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97194270	97194270	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:97194270G>A	ENST00000514100.1	+	5	387	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	EPHA6_ENST00000442602.2_Missense_Mutation_p.V23I|EPHA6_ENST00000502694.1_Missense_Mutation_p.V49I|EPHA6_ENST00000389672.5_Missense_Mutation_p.V657I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	563	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.V49I(1)|p.V563I(1)|p.V657I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTCTCCTCGTCATCCTCAC	0.403																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1969-1971)GTC>ATC		EPH receptor A6 isoform a							85.0	86.0	86.0					3																	97194270		1928	4131	6059	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97194270G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.145G>A	3.37:g.97194270G>A	ENSP00000421711:p.Val49Ile					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.V23I|EPHA6_uc003drs.3_Missense_Mutation_p.V49I|EPHA6_uc003drr.3_Missense_Mutation_p.V49I|EPHA6_uc003drt.2_Missense_Mutation_p.V49I|EPHA6_uc010hox.1_RNA	p.V657I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			8	2012	+			562			Helical; (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.1969G>A		.	.	.	.	.	.	.	.	.	.	G	17.21	3.332784	0.60853	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	6.07	6.07	0.98685	.	.	.	.	.	T	0.27098	0.0664	L	0.28344	0.845	0.51767	D	0.999938	D;P;P;D	0.76494	0.999;0.918;0.725;0.999	D;B;B;D	0.75484	0.985;0.284;0.073;0.986	T	0.01001	-1.1485	9	0.27082	T	0.32	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	23;562;49;49	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	657;49;49;23	ENSP00000374323:V657I;ENSP00000421711:V49I;ENSP00000423950:V49I;ENSP00000403100:V23I	ENSP00000374323:V657I	V	+	1	0	EPHA6	98676960	1.000000	0.71417	0.969000	0.41365	0.230000	0.25150	5.709000	0.68384	2.885000	0.99019	0.655000	0.94253	GTC		PASS	0.403	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		4	31	4	31	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101481404	101481404	+	Splice_Site	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:101481404G>T	ENST00000341893.3	+	10	2645	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	CEP97_ENST00000494050.1_Splice_Site_p.Q572H|CEP97_ENST00000327230.4_Splice_Site_p.Q631H			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	631	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.Q631H(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTTGGAACCAGGTAAACTCCC	0.313																																						uc003dvk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1891-1893)CAG>CAT		centrosomal protein 97kDa							69.0	73.0	71.0					3																	101481404		2203	4299	6502	SO:0001630	splice_region_variant	79598					centrosome|nucleus	protein binding	g.chr3:101481404G>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1893+1G>T	3.37:g.101481404G>T						CEP97_uc011bhf.1_Missense_Mutation_p.Q572H|CEP97_uc003dvl.1_Missense_Mutation_p.Q327H|CEP97_uc003dvm.1_Missense_Mutation_p.Q469H	p.Q631H	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			10	1920	+			631			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1893G>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269367	0.59540	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.58358	0.5;0.54;0.34	5.41	5.41	0.78517	.	0.218833	0.49916	D	0.000138	T	0.55033	0.1895	M	0.66939	2.045	0.51767	D	0.999931	B;B	0.32939	0.265;0.391	B;B	0.30572	0.094;0.117	T	0.60419	-0.7267	10	0.87932	D	0	-5.0492	19.2	0.93708	0.0:0.0:1.0:0.0	.	572;631	E9PG22;Q8IW35	.;CEP97_HUMAN	H	631;631;572	ENSP00000342510:Q631H;ENSP00000325881:Q631H;ENSP00000418185:Q572H	ENSP00000325881:Q631H	Q	+	3	2	CEP97	102964094	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	4.353000	0.59411	2.543000	0.85770	0.585000	0.79938	CAG		PASS	0.313	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	Missense_Mutation	51	123	51	123	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058223	114058223	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:114058223C>G	ENST00000474710.1	-	5	2033	c.1855G>C	c.(1855-1857)Gat>Cat	p.D619H	ZBTB20_ENST00000462705.1_Missense_Mutation_p.D546H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.D546H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.D546H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.D546H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.D546H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.D546H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	619						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D546H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATAAGGTAATCCTTTAAGGAG	0.512																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1855-1857)GAT>CAT		zinc finger and BTB domain containing 20 isoform							137.0	118.0	125.0					3																	114058223		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058223C>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1855G>C	3.37:g.114058223C>G	ENSP00000419153:p.Asp619His					ZBTB20_uc003ebj.2_Missense_Mutation_p.D546H|ZBTB20_uc010hqp.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebk.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebl.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebm.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebn.2_Missense_Mutation_p.D546H	p.D619H	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	5	2035	-			619			C2H2-type 2.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1855G>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939921	0.52972	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.03889	3.77;3.77;3.77;3.77;3.77;3.77;3.77	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	N	0.20986	0.625	0.80722	D	1	P	0.37330	0.59	B	0.40228	0.323	T	0.29027	-1.0025	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	619	Q9HC78	ZBT20_HUMAN	H	546;546;546;546;619;546;546	ENSP00000420324:D546H;ENSP00000377375:D546H;ENSP00000418092:D546H;ENSP00000419902:D546H;ENSP00000419153:D619H;ENSP00000349803:D546H;ENSP00000417307:D546H	ENSP00000349803:D546H	D	-	1	0	ZBTB20	115540913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.512	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		29	132	29	132	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208879	121208879	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:121208879T>C	ENST00000264233.5	-	16	3027	c.2899A>G	c.(2899-2901)Agt>Ggt	p.S967G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	967					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1102G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTAAAGGAACTTGTATGCTCT	0.299								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2899-2901)AGT>GGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							45.0	46.0	46.0					3																	121208879		2202	4297	6499	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208879T>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2899A>G	3.37:g.121208879T>C	ENSP00000264233:p.Ser967Gly					POLQ_uc003eed.2_Missense_Mutation_p.S139G	p.S967G	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3028	-			967					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2899A>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	9.468	1.094896	0.20471	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51574	0.7	5.64	-4.01	0.04045	.	1.012140	0.07900	N	0.972549	T	0.27278	0.0669	N	0.19112	0.55	0.09310	N	1	B;B	0.29988	0.209;0.264	B;B	0.28011	0.053;0.085	T	0.23154	-1.0196	10	0.25751	T	0.34	.	8.1926	0.31376	0.0:0.4638:0.1249:0.4113	.	967;139	O75417;O75417-2	DPOLQ_HUMAN;.	G	590;967;1103	ENSP00000264233:S967G	ENSP00000264233:S967G	S	-	1	0	POLQ	122691569	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.131000	0.10482	-0.449000	0.07117	-0.461000	0.05368	AGT		PASS	0.299	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		21	86	21	86	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128987831	128987831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:128987831G>T	ENST00000314797.6	+	18	1935	c.1831G>T	c.(1831-1833)Gag>Tag	p.E611*		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	611	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E611*(1)									TACCAGGCAGGAGATCTTCCA	0.507																																						uc003els.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1831-1833)GAG>TAG		coatomer protein complex, subunit gamma 1							115.0	106.0	109.0					3																	128987831		2203	4300	6503	SO:0001587	stop_gained	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128987831G>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1831G>T	3.37:g.128987831G>T	ENSP00000325002:p.Glu611*					COPG_uc010htb.2_Nonsense_Mutation_p.E517*	p.E611*	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			18	1931	+			611			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Nonsense_Mutation	SNP	ENST00000314797.6	37	c.1831G>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.634848	0.98895	.	.	ENSG00000181789	ENST00000314797	.	.	.	5.81	5.81	0.92471	.	0.071732	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.249	17.585	0.87979	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000325002:E611X	E	+	1	0	COPG	130470521	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.348000	0.90064	2.746000	0.94184	0.591000	0.81541	GAG		PASS	0.507	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		44	128	44	128	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129284817	129284817	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:129284817A>G	ENST00000324093.4	-	24	4413	c.4235T>C	c.(4234-4236)tTg>tCg	p.L1412S	PLXND1_ENST00000393239.1_Missense_Mutation_p.L1412S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1412			L -> V (in dbSNP:rs2625973).		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.L1412S(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGAGGAGAACAAGCTAATTCC	0.572																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(4234-4236)TTG>TCG		plexin D1 precursor							139.0	119.0	125.0					3																	129284817		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284817A>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4235T>C	3.37:g.129284817A>G	ENSP00000317128:p.Leu1412Ser					PLXND1_uc011blb.1_Missense_Mutation_p.L80S	p.L1412S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			24	4335	-			1412			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4235T>C	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398314	0.42512	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.16457	2.34;2.34	5.07	5.07	0.68467	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000010	T	0.35653	0.0939	L	0.48642	1.525	0.50039	D	0.99984	D;D	0.89917	0.992;1.0	D;D	0.91635	0.929;0.999	T	0.09796	-1.0658	10	0.87932	D	0	.	14.8658	0.70416	1.0:0.0:0.0:0.0	.	7;1412	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1412	ENSP00000317128:L1412S;ENSP00000376931:L1412S	ENSP00000317128:L1412S	L	-	2	0	PLXND1	130767507	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	4.039000	0.57325	1.908000	0.55244	0.460000	0.39030	TTG		PASS	0.572	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		9	48	9	48	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132440894	132440894	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:132440894G>A	ENST00000337331.5	-	1	392	c.306C>T	c.(304-306)cgC>cgT	p.R102R	NPHP3-AS1_ENST00000504440.1_RNA|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000326682.8_Silent_p.R102R|NPHP3_ENST00000343113.4_Silent_p.R102R|NPHP3_ENST00000383282.2_Silent_p.R102R	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	102					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.R102R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTGCTGACGCGAAAGATCT	0.647																																						uc003epe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)CGC>CGT		nephrocystin 3							36.0	39.0	38.0					3																	132440894		2167	4206	6373	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132440894G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.306C>T	3.37:g.132440894G>A						NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	p.R102R	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			1	383	-			102			Potential.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.306C>T	CCDS3078.1																																																																																				PASS	0.647	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		12	85	12	85	---	---	---	---
C3orf58	205428	broad.mit.edu	37	3	143691417	143691417	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:143691417C>A	ENST00000315691.3	+	1	778	c.243C>A	c.(241-243)cgC>cgA	p.R81R	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	81					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.R81R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGCTTGCGCCTGCTGGACT	0.682																																						uc003evo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(241-243)CGC>CGA		hypothetical protein LOC205428 isoform a							32.0	35.0	34.0					3																	143691417		2188	4275	6463	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691417C>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.243C>A	3.37:g.143691417C>A						C3orf58_uc011bnl.1_5'Flank	p.R81R	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	778	+			81					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.243C>A	CCDS3130.1																																																																																				PASS	0.682	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		27	70	27	70	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174815049	174815049	+	Silent	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:174815049A>C	ENST00000454872.1	+	2	641	c.513A>C	c.(511-513)acA>acC	p.T171T	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	171						integral component of membrane (GO:0016021)		p.T171T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCTCAAGACAATCCAGGCAG	0.378																																						uc003fit.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(511-513)ACA>ACC		N-acetylated alpha-linked acidic dipeptidase 2							82.0	82.0	82.0					3																	174815049		1838	4093	5931	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174815049A>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.513A>C	3.37:g.174815049A>C						NAALADL2_uc003fiu.1_Silent_p.T164T	p.T171T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	600	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	171			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.513A>C	CCDS46960.1																																																																																				PASS	0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		8	315	8	315	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179529588	179529588	+	Splice_Site	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:179529588C>T	ENST00000467460.1	-	11	1485		c.e11+1		PEX5L_ENST00000485199.1_Splice_Site|PEX5L_ENST00000263962.8_Splice_Site|PEX5L_ENST00000464614.1_Splice_Site|PEX5L_ENST00000465751.1_Splice_Site|PEX5L_ENST00000468741.1_Splice_Site|PEX5L_ENST00000472994.1_Splice_Site|PEX5L_ENST00000467440.2_Splice_Site|PEX5L_ENST00000392649.3_Splice_Site|PEX5L_ENST00000476138.1_Splice_Site	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like						maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCTTTACCTCTGGAGGG	0.428																																						uc003fki.1																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.e11+1		peroxisomal biogenesis factor 5-like							188.0	178.0	182.0					3																	179529588		2203	4300	6503	SO:0001630	splice_region_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179529588C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1154+1G>A	3.37:g.179529588C>T						PEX5L_uc011bqd.1_Splice_Site_p.R342_splice|PEX5L_uc011bqe.1_Splice_Site_p.R193_splice|PEX5L_uc011bqf.1_Splice_Site_p.R277_splice|PEX5L_uc003fkj.1_Splice_Site_p.R350_splice|PEX5L_uc010hxd.1_Splice_Site_p.R383_splice|PEX5L_uc011bqg.1_Splice_Site_p.R361_splice|PEX5L_uc011bqh.1_Splice_Site_p.R326_splice	p.R385_splice	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		11	1284	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)							B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Splice_Site	SNP	ENST00000467460.1	37	c.1154_splice	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168158	0.78339	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5806	0.95465	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX5L	181012282	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.776000	0.85560	2.686000	0.91538	0.650000	0.86243	.		PASS	0.428	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	Intron	127	148	127	148	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182775130	182775130	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:182775130C>A	ENST00000265594.4	-	8	988	c.842G>T	c.(841-843)cGa>cTa	p.R281L	MCCC1_ENST00000492597.1_Missense_Mutation_p.R172L|MCCC1_ENST00000539926.1_Missense_Mutation_p.R146L	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	281	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.		R -> Q (in MCC1D). {ECO:0000269|PubMed:22150417}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R281L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTCTGATGTCGCCTCTGCAC	0.428																																						uc003fle.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(841-843)CGA>CTA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						93.0	78.0	84.0					3																	182775130		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182775130C>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.842G>T	3.37:g.182775130C>A	ENSP00000265594:p.Arg281Leu					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R164L|MCCC1_uc003flg.2_Missense_Mutation_p.R172L|MCCC1_uc011bqp.1_Missense_Mutation_p.R234L|MCCC1_uc011bqq.1_Missense_Mutation_p.R172L	p.R281L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		8	979	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		281			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.842G>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176263	0.94846	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.46	5.46	0.80206	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.99391	4.545	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	0.98080	1.0403	10	0.87932	D	0	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	234;172;281	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	L	281;172;131;146;234;234;172	ENSP00000265594:R281L;ENSP00000419898:R172L;ENSP00000441253:R146L;ENSP00000420433:R234L	ENSP00000265594:R281L	R	-	2	0	MCCC1	184257824	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.161000	0.77505	2.572000	0.86782	0.467000	0.42956	CGA		PASS	0.428	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		31	35	31	35	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182775210	182775211	+	Splice_Site	DNP	CC	CC	AA	rs149389595		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:182775210_182775211CC>AA	ENST00000265594.4	-	8	908	c.762_762GG>TT	c.(760-762)agGG>agTTg	p.R254S	MCCC1_ENST00000492597.1_Splice_Site_p.R145S|MCCC1_ENST00000539926.1_Splice_Site_p.R119S	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	254	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.?(2)|p.R254S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTCTACATGCCTATATAAAAG	0.391																																						uc003fle.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(760-762)AGG>AGT|c.e8-1		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)																																			SO:0001630	splice_region_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182775210C>A|g.chr3:182775211C>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.762_762delinsAA	3.37:g.182775210_182775211delinsAA						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R137S|MCCC1_uc003flg.2_Missense_Mutation_p.R145S|MCCC1_uc011bqp.1_Missense_Mutation_p.R207S|MCCC1_uc011bqq.1_Missense_Mutation_p.R145S|MCCC1_uc010hxi.2_Splice_Site|MCCC1_uc011bqo.1_Splice_Site|MCCC1_uc003flf.2_Splice_Site_p.R137_splice|MCCC1_uc003flg.2_Splice_Site_p.R145_splice|MCCC1_uc011bqp.1_Splice_Site_p.R207_splice|MCCC1_uc011bqq.1_Splice_Site_p.R145_splice	p.R254S|p.R254_splice	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		8	899	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		254|			Biotin carboxylation.|ATP-grasp.|		Q59ES4|Q9H959|Q9NS97	Missense_Mutation|Splice_Site	SNP	ENST00000265594.4	37	c.762G>T|c.762_splice	CCDS3241.1																																																																																				PASS	0.391	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	Missense_Mutation	11	41|40	11	40	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185393116	185393116	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:185393116C>T	ENST00000382199.2	-	9	1134	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.E347K|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.E353K|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.E290K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	347					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E347K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCAAAGGCCTCACGCAGCTTC	0.453																																						uc003fpo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1039-1041)GAG>AAG		insulin-like growth factor 2 mRNA binding							126.0	118.0	120.0					3																	185393116		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185393116C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1039G>A	3.37:g.185393116C>T	ENSP00000371634:p.Glu347Lys					IGF2BP2_uc010hyi.2_Missense_Mutation_p.E290K|IGF2BP2_uc010hyj.2_Missense_Mutation_p.E284K|IGF2BP2_uc010hyk.2_Missense_Mutation_p.E211K|IGF2BP2_uc010hyl.2_Missense_Mutation_p.E284K|IGF2BP2_uc003fpp.2_Missense_Mutation_p.E347K|IGF2BP2_uc003fpq.2_Missense_Mutation_p.E352K	p.E347K	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		9	1118	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		347					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.1039G>A	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639635	0.87760	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.34	5.34	0.76211	.	0.047507	0.85682	D	0.000000	T	0.64472	0.2601	M	0.69358	2.11	0.80722	D	1	P;P;P;D;P;P	0.58970	0.911;0.851;0.851;0.984;0.562;0.609	P;B;B;P;B;B	0.59171	0.646;0.395;0.395;0.853;0.236;0.17	T	0.64914	-0.6295	10	0.51188	T	0.08	-14.08	18.1752	0.89759	0.0:1.0:0.0:0.0	.	284;284;290;353;347;347	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	K	347;290;353;347	ENSP00000371634:E347K;ENSP00000413787:E290K;ENSP00000410242:E353K;ENSP00000320204:E347K	ENSP00000320204:E347K	E	-	1	0	IGF2BP2	186875810	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.691000	0.84191	2.653000	0.90120	0.313000	0.20887	GAG		PASS	0.453	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		40	251	40	251	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188242542	188242542	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:188242542G>C	ENST00000312675.4	+	5	642	c.396G>C	c.(394-396)gaG>gaC	p.E132D	LPP_ENST00000448637.1_Missense_Mutation_p.E132D|LPP_ENST00000543006.1_Missense_Mutation_p.E132D	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	132	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E132D(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGACCTTGAGTGCAGCTCCC	0.542			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(394-396)GAG>GAC		LIM domain containing preferred translocation							138.0	130.0	133.0					3																	188242542		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188242542G>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.396G>C	3.37:g.188242542G>C	ENSP00000318089:p.Glu132Asp					LPP_uc011bsg.1_Missense_Mutation_p.E132D|LPP_uc011bsi.1_Missense_Mutation_p.E132D|LPP_uc003frt.2_Missense_Mutation_p.E132D	p.E132D	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	642	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	132			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.396G>C	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098072	0.56183	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000312675;ENST00000543006	T;T;T;T	0.57273	1.87;0.52;0.41;0.41	5.62	2.45	0.29901	.	0.046524	0.85682	D	0.000000	T	0.58552	0.2130	L	0.55834	1.745	0.44966	D	0.997983	P;D;D	0.89917	0.956;1.0;0.999	D;D;D	0.85130	0.931;0.997;0.971	T	0.56086	-0.8037	10	0.16896	T	0.51	.	5.4988	0.16817	0.4601:0.0:0.5398:0.0	.	132;132;132	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	D	132	ENSP00000393602:E132D;ENSP00000410340:E132D;ENSP00000318089:E132D;ENSP00000438891:E132D	ENSP00000318089:E132D	E	+	3	2	LPP	189725236	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.202000	0.32271	0.742000	0.32697	0.655000	0.94253	GAG		PASS	0.542	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		14	299	14	299	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196387954	196387954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr3:196387954C>A	ENST00000328557.4	+	3	1643	c.1440C>A	c.(1438-1440)tgC>tgA	p.C480*		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	480					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C480*(1)									TGCCAGACTGCCCATTCCAAG	0.597																																						uc003fwv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1438-1440)TGC>TGA		leucine rich repeat containing 33 precursor							64.0	64.0	64.0					3																	196387954		2203	4300	6503	SO:0001587	stop_gained	375387					integral to membrane		g.chr3:196387954C>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1440C>A	3.37:g.196387954C>A	ENSP00000328625:p.Cys480*						p.C480*	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1544	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		480			Extracellular (Potential).|LRR 16.			Nonsense_Mutation	SNP	ENST00000328557.4	37	c.1440C>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753379	0.69648	.	.	ENSG00000174004	ENST00000328557	.	.	.	5.97	0.0936	0.14477	.	0.609143	0.18933	N	0.127154	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	2.4845	0.04595	0.1122:0.4124:0.1091:0.3663	.	.	.	.	X	480	.	ENSP00000328625:C480X	C	+	3	2	LRRC33	197872351	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-1.060000	0.03475	-0.277000	0.09193	0.655000	0.94253	TGC		PASS	0.597	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		74	139	74	139	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972058	55972058	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:55972058T>A	ENST00000263923.4	-	12	1881	c.1586A>T	c.(1585-1587)aAa>aTa	p.K529I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	529	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of 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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K529I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCTTCACATTTGTACAAAGC	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1585-1587)AAA>ATA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						276.0	265.0	269.0					4																	55972058		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55972058T>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1586A>T	4.37:g.55972058T>A	ENSP00000263923:p.Lys529Ile	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.K529I|KDR_uc011bzx.1_Missense_Mutation_p.K529I	p.K529I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		12	1888	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		529			Ig-like C2-type 5.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1586A>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981529	0.74474	.	.	ENSG00000128052	ENST00000263923	T	0.12672	2.66	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053495	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55213	1.73	0.30989	N	0.721669	D;D	0.71674	0.998;0.978	D;D	0.63703	0.914;0.917	T	0.26258	-1.0108	10	0.66056	D	0.02	.	5.6205	0.17455	0.0:0.2194:0.0:0.7806	.	529;529	P35968-2;P35968	.;VGFR2_HUMAN	I	529	ENSP00000263923:K529I	ENSP00000263923:K529I	K	-	2	0	KDR	55666815	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.383000	0.44354	1.956000	0.56807	0.460000	0.39030	AAA		PASS	0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			53	347	53	347	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56841063	56841063	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:56841063A>G	ENST00000257287.4	+	11	1525	c.1401A>G	c.(1399-1401)atA>atG	p.I467M		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	467					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.I467M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCCAACATATAATACAGCGAA	0.373																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1399-1401)ATA>ATG		centrosome protein 4							76.0	78.0	77.0					4																	56841063		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56841063A>G	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1401A>G	4.37:g.56841063A>G	ENSP00000257287:p.Ile467Met					CEP135_uc003hbj.2_Missense_Mutation_p.I173M	p.I467M	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			11	1635	+	Glioma(25;0.08)|all_neural(26;0.101)		467			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1401A>G	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419293	0.25552	.	.	ENSG00000174799	ENST00000257287	T	0.39406	1.08	5.89	-4.16	0.03869	.	0.824293	0.11818	N	0.526546	T	0.18299	0.0439	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.14839	-1.0458	10	0.45353	T	0.12	.	3.6935	0.08355	0.3513:0.4113:0.1362:0.1012	.	467	Q66GS9	CP135_HUMAN	M	467	ENSP00000257287:I467M	ENSP00000257287:I467M	I	+	3	3	CEP135	56535820	0.009000	0.17119	0.952000	0.39060	0.683000	0.39861	-0.914000	0.04038	-0.146000	0.11274	0.454000	0.30748	ATA		PASS	0.373	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		60	143	60	143	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57215750	57215750	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:57215750T>C	ENST00000205214.6	-	11	2347	c.2167A>G	c.(2167-2169)Aat>Gat	p.N723D	AASDH_ENST00000602986.1_Missense_Mutation_p.N570D|AASDH_ENST00000502617.1_Missense_Mutation_p.N723D|AASDH_ENST00000434343.2_Missense_Mutation_p.N238D|AASDH_ENST00000513376.1_Missense_Mutation_p.N623D|AASDH_ENST00000451613.1_Missense_Mutation_p.N723D	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	723					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.N723D(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACTGGAGAATTTAAGCCTTTC	0.398																																						uc003hbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2167-2169)AAT>GAT		aminoadipate-semialdehyde dehydrogenase							74.0	77.0	76.0					4																	57215750		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215750T>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2167A>G	4.37:g.57215750T>C	ENSP00000205214:p.Asn723Asp					AASDH_uc010ihb.2_Missense_Mutation_p.N238D|AASDH_uc011caa.1_Missense_Mutation_p.N570D|AASDH_uc003hbo.2_Missense_Mutation_p.N623D|AASDH_uc011cab.1_Missense_Mutation_p.N238D|AASDH_uc010ihc.2_Missense_Mutation_p.N723D|AASDH_uc003hbp.2_Missense_Mutation_p.N723D	p.N723D	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			11	2320	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	723					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2167A>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	4.437	0.080964	0.08533	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.62639	0.01;0.14;2.27;0.5;0.52	5.52	3.13	0.36017	.	0.623834	0.17497	N	0.172138	T	0.54775	0.1879	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.09377	0.002;0.004;0.002;0.002	T	0.45687	-0.9244	10	0.35671	T	0.21	-6.0727	8.9196	0.35604	0.0:0.1539:0.0:0.8461	.	570;723;723;723	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	D	723;623;238;723;570;723	ENSP00000205214:N723D;ENSP00000423760:N623D;ENSP00000392158:N238D;ENSP00000409656:N723D;ENSP00000421171:N723D	ENSP00000205214:N723D	N	-	1	0	AASDH	56910507	0.331000	0.24713	0.036000	0.18154	0.051000	0.14879	1.949000	0.40313	0.527000	0.28560	0.528000	0.53228	AAT		PASS	0.398	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		18	128	18	128	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62775413	62775413	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:62775413C>T	ENST00000514591.1	+	11	2148	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	LPHN3_ENST00000507164.1_Missense_Mutation_p.R675W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R607W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R607W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R607W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R675W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R675W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R675W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R675W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R607W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R607W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R675W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R607W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R675W|LPHN3_ENST00000512091.2_Missense_Mutation_p.R607W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	607					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R607W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTACAGCTTCGGAACTTGAC	0.512																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1819-1821)CGG>TGG		latrophilin 3 precursor							41.0	46.0	44.0					4																	62775413		1941	4126	6067	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62775413C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1819C>T	4.37:g.62775413C>T	ENSP00000422533:p.Arg607Trp					LPHN3_uc003hcq.3_Missense_Mutation_p.R607W|LPHN3_uc003hct.2_Missense_Mutation_p.R13W|LPHN3_uc003hcs.1_Missense_Mutation_p.R436W	p.R607W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			9	1992	+			607			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1819C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055688|3.055688	0.55325|0.55325	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.10668|.	2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85|.	5.39|5.39	2.42|2.42	0.29668|0.29668	Domain of unknown function DUF3497 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54775|0.54775	0.1879|0.1879	L|L	0.36672|0.36672	1.1|1.1	0.48511|0.48511	D|D	0.999664|0.999664	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.71414|.	0.973;0.959;0.933|.	T|T	0.43972|0.43972	-0.9358|-0.9358	10|5	0.87932|.	D|.	0|.	.|.	14.0755|14.0755	0.64887|0.64887	0.4857:0.5143:0.0:0.0|0.4857:0.5143:0.0:0.0	.|.	607;607;607|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	W|L	607;607;675;675;607;607;607;607;607;675;675;675;607;607;607;675;675;607|77	ENSP00000423388:R607W;ENSP00000422533:R607W;ENSP00000423787:R675W;ENSP00000425033:R675W;ENSP00000424120:R607W;ENSP00000439831:R607W;ENSP00000421476:R675W;ENSP00000424030:R675W;ENSP00000421372:R675W;ENSP00000425201:R607W;ENSP00000423434:R607W;ENSP00000421627:R607W;ENSP00000420931:R675W;ENSP00000425884:R675W;ENSP00000424258:R607W|.	ENSP00000280009:R607W|.	R|S	+|+	1|2	2|0	LPHN3|LPHN3	62458008|62458008	0.683000|0.683000	0.27633|0.27633	0.753000|0.753000	0.31225|0.31225	0.465000|0.465000	0.32709|0.32709	0.823000|0.823000	0.27366|0.27366	0.224000|0.224000	0.20940|0.20940	0.650000|0.650000	0.86243|0.86243	CGG|TCG		PASS	0.512	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	14	4	14	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71467291	71467291	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:71467291G>C	ENST00000322937.6	+	6	554	c.451G>C	c.(451-453)Gga>Cga	p.G151R	AMBN_ENST00000449493.2_Missense_Mutation_p.G136R	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	151					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.G151R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AATTCACCTGGGACATCTGCC	0.537											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(451-453)GGA>CGA		ameloblastin precursor							123.0	117.0	119.0					4																	71467291		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467291G>C	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.451G>C	4.37:g.71467291G>C	ENSP00000313809:p.Gly151Arg		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130		p.G151R	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		6	526	+			151					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.451G>C	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	4.852	0.158297	0.09236	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.33216	1.42;1.42	5.95	0.988	0.19796	.	0.734352	0.12633	N	0.452054	T	0.17365	0.0417	N	0.21282	0.65	0.09310	N	1	B	0.13594	0.008	B	0.17722	0.019	T	0.24621	-1.0155	10	0.30078	T	0.28	-0.0024	4.8783	0.13667	0.2392:0.2921:0.4687:0.0	.	151	Q9NP70	AMBN_HUMAN	R	151;151;136	ENSP00000313809:G151R;ENSP00000391234:G136R	ENSP00000313809:G151R	G	+	1	0	AMBN	71501880	0.149000	0.22717	0.024000	0.17045	0.294000	0.27393	0.725000	0.25970	0.116000	0.18110	0.563000	0.77884	GGA		PASS	0.537	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		55	139	55	139	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72420899	72420899	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:72420899G>A	ENST00000264485.5	+	21	2854	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	SLC4A4_ENST00000351898.6_Missense_Mutation_p.G829R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G913R|SLC4A4_ENST00000340595.3_Missense_Mutation_p.G869R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	913				G -> R (in Ref. 3; AAF21719). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G913R(1)|p.G913*(1)|p.G869*(1)|p.G869R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCTGTATATGGGAGTAGCATC	0.343																																						uc003hfy.2																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(3)|kidney(1)|skin(1)	5						c.(2737-2739)GGA>AGA		solute carrier family 4, sodium bicarbonate							288.0	285.0	286.0					4																	72420899		2203	4299	6502	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420899G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2737G>A	4.37:g.72420899G>A	ENSP00000264485:p.Gly913Arg					SLC4A4_uc010iic.2_Missense_Mutation_p.G913R|SLC4A4_uc010iib.2_Missense_Mutation_p.G829R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G913R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G869R|SLC4A4_uc010iid.2_Missense_Mutation_p.G117R	p.G913R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		21	2854	+			913	G -> R (in Ref. 3; AAF21719).		Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2737G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496353	0.85069	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.89810	-2.57;-2.57;-1.77;-2.57	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.96963	0.9703	10	0.87932	D	0	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	913;829;869;913	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	R	913;913;829;869	ENSP00000264485:G913R;ENSP00000393557:G913R;ENSP00000307349:G829R;ENSP00000344272:G869R	ENSP00000264485:G913R	G	+	1	0	SLC4A4	72639763	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	9.779000	0.99018	2.878000	0.98634	0.650000	0.86243	GGA		PASS	0.343	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		87	262	87	262	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76808007	76808007	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:76808007T>C	ENST00000286719.7	-	7	933	c.577A>G	c.(577-579)Aag>Gag	p.K193E		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	193	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.K193E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTCATACCTTATAAAATATA	0.299																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(577-579)AAG>GAG		serine/threonine protein phosphatase with							41.0	49.0	46.0					4																	76808007		2180	4267	6447	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76808007T>C	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.577A>G	4.37:g.76808007T>C	ENSP00000286719:p.Lys193Glu					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.K193E	p.K193E	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	934	-			193			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.577A>G	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655145	0.88056	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	D	0.84730	-1.89	5.5	5.5	0.81552	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.192500	0.53938	D	0.000051	D	0.90003	0.6879	L	0.52823	1.66	0.58432	D	0.999997	D;D	0.76494	0.999;0.97	D;P	0.81914	0.995;0.878	D	0.90815	0.4704	10	0.72032	D	0.01	-3.5428	13.5666	0.61822	0.0:0.0:0.0:1.0	.	193;193	O14830-2;O14830	.;PPE2_HUMAN	E	193	ENSP00000286719:K193E	ENSP00000286719:K193E	K	-	1	0	PPEF2	77027031	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.165000	0.77544	2.086000	0.62901	0.533000	0.62120	AAG		PASS	0.299	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		9	134	9	134	---	---	---	---
HPSE	10855	broad.mit.edu	37	4	84230076	84230076	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:84230076T>C	ENST00000405413.2	-	9	1149	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	HPSE_ENST00000311412.5_Missense_Mutation_p.K338R|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000513463.1_Missense_Mutation_p.K280R	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	338					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.K338R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TAACCAGACCTTCTTGCCAGG	0.498																																						uc003hoj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)AAG>AGG		heparanase precursor	Heparin(DB01109)						83.0	81.0	82.0					4																	84230076		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84230076T>C	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1013A>G	4.37:g.84230076T>C	ENSP00000384262:p.Lys338Arg					HPSE_uc010ika.2_Missense_Mutation_p.K280R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.K81R|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.K338R	p.K338R	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	8	1112	-		Hepatocellular(203;0.114)	338					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1013A>G	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547323	0.65311	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000454730;ENST00000513463	T;T;T	0.31769	1.48;1.48;1.48	5.36	5.36	0.76844	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.199357	0.52532	D	0.000061	T	0.46171	0.1379	M	0.68952	2.095	0.41018	D	0.985056	D;D;D	0.63880	0.993;0.991;0.993	P;P;P	0.61275	0.886;0.818;0.886	T	0.36359	-0.9751	10	0.24483	T	0.36	-19.3445	10.3807	0.44110	0.0:0.0771:0.0:0.9229	.	280;280;338	A9JIG7;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	R	338;338;52;280	ENSP00000308107:K338R;ENSP00000384262:K338R;ENSP00000421365:K280R	ENSP00000308107:K338R	K	-	2	0	HPSE	84449100	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.373000	0.52394	2.247000	0.74100	0.482000	0.46254	AAG		PASS	0.498	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		7	106	7	106	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90830444	90830444	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:90830444T>A	ENST00000394980.1	+	3	960	c.641T>A	c.(640-642)gTa>gAa	p.V214E	MMRN1_ENST00000264790.2_Missense_Mutation_p.V214E|MMRN1_ENST00000508372.1_5'UTR|MMRN1_ENST00000394981.1_Missense_Mutation_p.V180E			Q13201	MMRN1_HUMAN	multimerin 1	214	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.V214E(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGTGCTTATGTACATACCAGG	0.403																																						uc003hst.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(640-642)GTA>GAA		multimerin 1							130.0	121.0	124.0					4																	90830444		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90830444T>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.641T>A	4.37:g.90830444T>A	ENSP00000378431:p.Val214Glu					MMRN1_uc010iku.2_Missense_Mutation_p.V180E|MMRN1_uc011cds.1_5'UTR	p.V214E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	712	+		Hepatocellular(203;0.114)	214			EMI.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.641T>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435303	0.62955	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.42900	0.96;0.96;0.96	5.32	5.32	0.75619	EMI domain (2);	0.095600	0.43919	D	0.000519	T	0.65450	0.2692	M	0.79475	2.455	0.34888	D	0.745261	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.77148	-0.2694	10	0.72032	D	0.01	.	14.5569	0.68106	0.0:0.0:0.0:1.0	.	180;214	Q13201-2;Q13201	.;MMRN1_HUMAN	E	214;214;180	ENSP00000378431:V214E;ENSP00000264790:V214E;ENSP00000378432:V180E	ENSP00000264790:V214E	V	+	2	0	MMRN1	91049467	0.998000	0.40836	0.978000	0.43139	0.503000	0.33858	3.046000	0.49846	2.317000	0.78254	0.460000	0.39030	GTA		PASS	0.403	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		44	121	44	121	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:94344033G>C	ENST00000282020.4	+	10	1717	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	GRID2_ENST00000510992.1_Missense_Mutation_p.E392Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTTAACTACGAAATTTACGT	0.418																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1459-1461)GAA>CAA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						119.0	119.0	119.0					4																	94344033		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344033G>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1459G>C	4.37:g.94344033G>C	ENSP00000282020:p.Glu487Gln					GRID2_uc011cdu.1_Missense_Mutation_p.E392Q	p.E487Q	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1717	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	487			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1459G>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918158	0.92249	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.32023	1.47;1.47	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.71871	2.18	0.80722	D	1	P;P	0.38978	0.513;0.652	B;B	0.36989	0.107;0.238	T	0.43734	-0.9373	10	0.72032	D	0.01	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	392;487	E9PH24;O43424	.;GRID2_HUMAN	Q	487;392	ENSP00000282020:E487Q;ENSP00000421257:E392Q	ENSP00000282020:E487Q	E	+	1	0	GRID2	94563056	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GAA		PASS	0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			25	87	25	87	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113539940	113539940	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:113539940T>A	ENST00000505019.1	-	6	1383	c.1258A>T	c.(1258-1260)Agc>Tgc	p.S420C	C4orf21_ENST00000445203.2_Missense_Mutation_p.S389C|C4orf21_ENST00000309071.5_Missense_Mutation_p.S420C	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		420						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S420C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTGCACTGCTACAAGTAACC	0.343																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1258-1260)AGC>TGC		prematurely terminated mRNA decay factor-like							86.0	87.0	87.0					4																	113539940		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113539940T>A																												ENST00000505019.1:c.1258A>T	4.37:g.113539940T>A	ENSP00000424737:p.Ser420Cys					C4orf21_uc003iaw.2_Missense_Mutation_p.S420C	p.S420C	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1469	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1258A>T		.	.	.	.	.	.	.	.	.	.	T	10.76	1.442505	0.25987	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.87491	-2.26;1.28;0.84	5.2	1.22	0.21188	.	0.443943	0.23512	N	0.047382	D	0.84529	0.5492	L	0.29908	0.895	0.09310	N	1	D;D	0.67145	0.996;0.995	P;P	0.58873	0.819;0.847	T	0.75001	-0.3471	10	0.87932	D	0	0.0021	5.8992	0.18957	0.0:0.1493:0.1401:0.7106	.	420;420	Q86YA3;G5EA02	CD021_HUMAN;.	C	420;420;389	ENSP00000424737:S420C;ENSP00000309095:S420C;ENSP00000390505:S389C	ENSP00000309095:S420C	S	-	1	0	C4orf21	113759389	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.401000	0.20948	0.323000	0.23307	0.416000	0.27883	AGC		PASS	0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			30	183	30	183	---	---	---	---
BBS12	166379	broad.mit.edu	37	4	123665001	123665001	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:123665001A>T	ENST00000314218.3	+	2	2147	c.1954A>T	c.(1954-1956)Att>Ttt	p.I652F	BBS12_ENST00000542236.1_Missense_Mutation_p.I652F	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	652					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.I652F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TAATTCAGACATTTCAAATAA	0.368									Bardet-Biedl syndrome																													uc003ieu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1954-1956)ATT>TTT		Bardet-Biedl syndrome 12							53.0	54.0	54.0					4																	123665001		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665001A>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1954A>T	4.37:g.123665001A>T	ENSP00000319062:p.Ile652Phe						p.I652F	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	2147	+			652					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1954A>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025547	0.54683	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70164	-0.46;-0.46	5.63	-0.0124	0.13989	.	0.387478	0.28809	N	0.014061	T	0.57021	0.2025	M	0.71581	2.175	0.24380	N	0.994795	B	0.22541	0.071	B	0.25291	0.059	T	0.49753	-0.8906	10	0.42905	T	0.14	-40.1069	2.7789	0.05355	0.5341:0.2336:0.1291:0.1032	.	652	Q6ZW61	BBS12_HUMAN	F	652	ENSP00000319062:I652F;ENSP00000438273:I652F	ENSP00000319062:I652F	I	+	1	0	BBS12	123884451	0.004000	0.15560	0.205000	0.23548	0.896000	0.52359	0.488000	0.22371	0.047000	0.15862	0.533000	0.62120	ATT		PASS	0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		33	82	33	82	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071448	134071448	+	Silent	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:134071448C>G	ENST00000264360.5	+	1	979	c.153C>G	c.(151-153)cgC>cgG	p.R51R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R51R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCGGCTCGCGGGTTTCAGA	0.522																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(151-153)CGC>CGG		protocadherin 10 isoform 1 precursor							99.0	99.0	99.0					4																	134071448		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071448C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.153C>G	4.37:g.134071448C>G						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R51R	p.R51R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	979	+			51			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.153C>G	CCDS34063.1																																																																																				PASS	0.522	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		16	128	16	128	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149075852	149075852	+	Missense_Mutation	SNP	C	C	A	rs553995203		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:149075852C>A	ENST00000358102.3	-	5	2577	c.2215G>T	c.(2215-2217)Gtt>Ttt	p.V739F	NR3C2_ENST00000344721.4_Missense_Mutation_p.V739F|NR3C2_ENST00000355292.3_Missense_Mutation_p.V743F|NR3C2_ENST00000511528.1_Missense_Mutation_p.V743F|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	739	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V739F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGACCATAACGGGGGAAGGT	0.502																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2215-2217)GTT>TTT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						215.0	201.0	206.0					4																	149075852		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075852C>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2215G>T	4.37:g.149075852C>A	ENSP00000350815:p.Val739Phe					NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	p.V739F	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2549	-	all_hematologic(180;0.151)		739			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2215G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366981	0.24771	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86	5.57	-2.54	0.06307	.	0.837785	0.11298	N	0.578512	D	0.93151	0.7819	L	0.55990	1.75	0.09310	N	1	P	0.35124	0.485	P	0.44647	0.456	D	0.86512	0.1810	9	.	.	.	.	5.0688	0.14596	0.3276:0.3593:0.0:0.313	.	739	B0ZBF6	.	F	739;743;739;743	ENSP00000341390:V739F;ENSP00000347441:V743F;ENSP00000350815:V739F;ENSP00000421481:V743F	.	V	-	1	0	NR3C2	149295302	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	0.506000	0.22658	-0.187000	0.10516	-0.136000	0.14681	GTT		PASS	0.502	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			64	138	64	138	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177084335	177084335	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:177084335G>A	ENST00000280190.4	+	23	3109	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	WDR17_ENST00000508596.1_Missense_Mutation_p.E961K|WDR17_ENST00000507824.2_Missense_Mutation_p.E968K|WDR17_ENST00000393643.2_Missense_Mutation_p.E961K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	985								p.E985K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCGCGGAAATGAACTGGAGTT	0.463																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2953-2955)GAA>AAA		WD repeat domain 17 isoform 1							143.0	132.0	136.0					4																	177084335		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177084335G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2953G>A	4.37:g.177084335G>A	ENSP00000280190:p.Glu985Lys					WDR17_uc003iuk.2_Missense_Mutation_p.E961K|WDR17_uc003ium.3_Missense_Mutation_p.E961K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E204K	p.E985K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	23	3109	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	985					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2953G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252038	0.80135	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.67171	-0.25;-0.17;-0.24	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	L	0.61036	1.89	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.991;0.991	T	0.79621	-0.1727	10	0.48119	T	0.1	-27.9431	19.8679	0.96839	0.0:0.0:1.0:0.0	.	961;961;985	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	K	961;961;985;968	ENSP00000422763:E961K;ENSP00000377258:E961K;ENSP00000280190:E985K	ENSP00000280190:E985K	E	+	1	0	WDR17	177321329	1.000000	0.71417	0.993000	0.49108	0.453000	0.32348	8.992000	0.93519	2.694000	0.91930	0.655000	0.94253	GAA		PASS	0.463	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			35	104	35	104	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187535499	187535499	+	Splice_Site	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr4:187535499C>G	ENST00000441802.2	-	12	9285		c.e12-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATATAAAGTCTGCAAAGAGT	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Unknown(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.e12-1		FAT tumor suppressor 1 precursor							67.0	64.0	65.0					4																	187535499		1866	4099	5965	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535499C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9076-1G>C	4.37:g.187535499C>G		HNSCC(5;0.00058)					p.T3026_splice	NM_005245	NP_005236	Q14517	FAT1_HUMAN			12	9264	-									Splice_Site	SNP	ENST00000441802.2	37	c.9076_splice	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827656	0.50845	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9002	0.88901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187772493	1.000000	0.71417	0.980000	0.43619	0.405000	0.30901	7.211000	0.77933	2.470000	0.83445	0.455000	0.32223	.		PASS	0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	23	48	23	48	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	251216	251216	+	Missense_Mutation	SNP	G	G	A	rs376391115		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:251216G>A	ENST00000264932.6	+	12	1776	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.R506Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	554			R -> W (in LS). {ECO:0000269|PubMed:7550341}.		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.R554Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACGTTCGACCGGGGTGAGCAG	0.562									Familial Paragangliomas				G|||	1	0.000199681	0.0	0.0	5008	,	,		18603	0.001		0.0	False		,,,				2504	0.0					uc003jao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1660-1662)CGG>CAG		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)	G	GLN/ARG	1,4405		0,1,2202	79.0	74.0	76.0		1661	3.6	1.0	5		76	0,8600		0,0,4300	no	missense	SDHA	NM_004168.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	554/665	251216	1,13005	2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:251216G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1661G>A	5.37:g.251216G>A	ENSP00000264932:p.Arg554Gln					SDHA_uc011clv.1_Missense_Mutation_p.R554Q|SDHA_uc011clw.1_Missense_Mutation_p.R506Q|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.R329Q|SDHA_uc003jar.3_Missense_Mutation_p.R148Q	p.R554Q	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		12	1776	+			554		R -> W (in LS).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1661G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	13.51	2.257842	0.39896	2.27E-4	0.0	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361	T;T	0.80824	-1.42;-1.42	3.62	3.62	0.41486	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.81683	0.4874	M	0.86268	2.805	0.80722	D	1	P;B;P;P	0.36438	0.497;0.434;0.553;0.457	B;B;B;B	0.35859	0.212;0.03;0.067;0.073	D	0.85330	0.1089	10	0.87932	D	0	.	13.1329	0.59393	0.0:0.0:1.0:0.0	.	506;554;148;554	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	Q	554;409;506	ENSP00000264932:R554Q;ENSP00000427703:R506Q	ENSP00000264932:R554Q	R	+	2	0	SDHA	304216	1.000000	0.71417	0.992000	0.48379	0.153000	0.21895	8.394000	0.90185	1.757000	0.51966	0.195000	0.17529	CGG		PASS	0.562	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		11	275	11	275	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5242217	5242217	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:5242217C>T	ENST00000274181.7	+	17	2713	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	859	Spacer.		R -> L (in dbSNP:rs16875122).		branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R859C(2)		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						CTCCATGCCTCGCTTGGGGAC	0.552																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2575-2577)CGC>TGC		ADAM metallopeptidase with thrombospondin type 1							53.0	59.0	57.0					5																	5242217		1967	4151	6118	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242217C>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.2575C>T	5.37:g.5242217C>T	ENSP00000274181:p.Arg859Cys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R859C	p.R859C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2713	+			859			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2575C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173467	0.38413	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.62364	0.03	5.73	-2.05	0.07321	.	0.279884	0.30575	N	0.009332	T	0.64283	0.2584	M	0.63428	1.95	0.09310	N	0.999996	D;D	0.71674	0.995;0.998	P;P	0.58520	0.549;0.84	T	0.57528	-0.7796	10	0.56958	D	0.05	.	6.0923	0.20001	0.6468:0.1826:0.0937:0.0769	.	859;859	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	C	859	ENSP00000274181:R859C	ENSP00000274181:R859C	R	+	1	0	ADAMTS16	5295217	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.150000	0.16263	-0.205000	0.10219	0.644000	0.83932	CGC		PASS	0.552	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		6	214	6	214	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629847	9629847	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:9629847C>T	ENST00000382492.2	-	1	616	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	100					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.G100S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGAAAACGCCGAGCCATGTG	0.443																																						uc003jem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(298-300)GGC>AGC		taste receptor T2R1							31.0	33.0	33.0					5																	9629847		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629847C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.298G>A	5.37:g.9629847C>T	ENSP00000371932:p.Gly100Ser						p.G100S	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	617	-			100			Helical; Name=3; (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.298G>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518886	0.27211	.	.	ENSG00000169777	ENST00000382492	T	0.26223	1.75	5.32	-2.33	0.06724	.	0.567006	0.17360	N	0.177043	T	0.11153	0.0272	N	0.10874	0.06	0.09310	N	1	D	0.54964	0.969	P	0.45037	0.467	T	0.29822	-0.9999	9	.	.	.	.	4.9109	0.13821	0.1838:0.395:0.0:0.4211	.	100	Q9NYW7	TA2R1_HUMAN	S	100	ENSP00000371932:G100S	.	G	-	1	0	TAS2R1	9682847	0.001000	0.12720	0.001000	0.08648	0.571000	0.35966	-0.272000	0.08560	-0.217000	0.10033	0.655000	0.94253	GGC		PASS	0.443	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			4	78	4	78	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13917329	13917329	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:13917329T>C	ENST00000265104.4	-	8	1116	c.1012A>G	c.(1012-1014)Act>Gct	p.T338A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	338	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T338A(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTCATTAGTTGCATCAGTG	0.368									Kartagener syndrome																													uc003jfd.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1012-1014)ACT>GCT		dynein, axonemal, heavy chain 5							158.0	132.0	140.0					5																	13917329		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13917329T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1012A>G	5.37:g.13917329T>C	ENSP00000265104:p.Thr338Ala					DNAH5_uc003jfe.1_RNA	p.T338A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			8	1054	-	Lung NSC(4;0.00476)		338			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1012A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	1.355	-0.590315	0.03799	.	.	ENSG00000039139	ENST00000265104	T	0.53423	0.62	5.63	1.74	0.24563	Dynein heavy chain, domain-1 (1);	0.397729	0.27072	N	0.021068	T	0.09247	0.0228	N	0.00062	-2.325	0.23645	N	0.997218	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.14656	T	0.56	.	6.6265	0.22833	0.2552:0.6073:0.0:0.1375	.	338	Q8TE73	DYH5_HUMAN	A	338	ENSP00000265104:T338A	ENSP00000265104:T338A	T	-	1	0	DNAH5	13970329	1.000000	0.71417	0.973000	0.42090	0.625000	0.37756	1.964000	0.40462	0.025000	0.15241	-0.366000	0.07423	ACT		PASS	0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		17	175	17	175	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24593422	24593422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:24593422G>A	ENST00000264463.4	-	2	685	c.178C>T	c.(178-180)Caa>Taa	p.Q60*	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q60*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGAAAAATTGATTCCACATC	0.383										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(178-180)CAA>TAA		cadherin 10, type 2 preproprotein							132.0	131.0	131.0					5																	24593422		2203	4300	6503	SO:0001587	stop_gained	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593422G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.178C>T	5.37:g.24593422G>A	ENSP00000264463:p.Gln60*	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Q60*	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	510	-			60			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	c.178C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	38	7.264949	0.98175	.	.	ENSG00000040731	ENST00000264463	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.3044	0.82842	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000264463:Q60X	Q	-	1	0	CDH10	24629179	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	8.830000	0.92063	2.145000	0.66743	0.585000	0.79938	CAA		PASS	0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		95	288	95	288	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823967	34823967	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:34823967G>A	ENST00000265109.3	+	15	2307	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	RAI14_ENST00000515799.1_Missense_Mutation_p.E677K|RAI14_ENST00000512629.1_Missense_Mutation_p.E645K|RAI14_ENST00000428746.2_Missense_Mutation_p.E674K|RAI14_ENST00000503673.1_Missense_Mutation_p.E674K|RAI14_ENST00000397449.1_Missense_Mutation_p.E667K|RAI14_ENST00000506376.1_Missense_Mutation_p.E666K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	674						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E674K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGTCACAGCTGAATATATCCA	0.448																																						uc003jir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2020-2022)GAA>AAA		retinoic acid induced 14 isoform a							76.0	78.0	78.0					5																	34823967		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823967G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2020G>A	5.37:g.34823967G>A	ENSP00000265109:p.Glu674Lys					RAI14_uc010iur.2_Missense_Mutation_p.E645K|RAI14_uc011coj.1_Missense_Mutation_p.E674K|RAI14_uc003jis.2_Missense_Mutation_p.E677K|RAI14_uc003jit.2_Missense_Mutation_p.E674K|RAI14_uc011cok.1_Missense_Mutation_p.E666K	p.E674K	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2216	+	all_lung(31;0.000191)		674			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2020G>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049438	0.36181	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.39056	1.14;1.1;1.14;1.14;1.14;1.19;1.17	5.68	5.68	0.88126	.	.	.	.	.	T	0.35364	0.0929	N	0.24115	0.695	0.25898	N	0.983386	B;B;B;B	0.34329	0.449;0.181;0.328;0.181	B;B;B;B	0.32864	0.098;0.033;0.154;0.033	T	0.33879	-0.9851	9	0.51188	T	0.08	-8.5729	19.7964	0.96487	0.0:0.0:1.0:0.0	.	666;645;677;674	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	K	674;645;674;674;677;666;667	ENSP00000265109:E674K;ENSP00000422377:E645K;ENSP00000388725:E674K;ENSP00000422942:E674K;ENSP00000427123:E677K;ENSP00000423854:E666K;ENSP00000380591:E667K	ENSP00000265109:E674K	E	+	1	0	RAI14	34859724	1.000000	0.71417	0.313000	0.25210	0.446000	0.32137	5.200000	0.65158	2.683000	0.91414	0.555000	0.69702	GAA		PASS	0.448	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		14	123	14	123	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065589	35065589	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:35065589G>A	ENST00000382002.5	-	10	1897	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P390S|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P390S|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	491					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.P491S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGCAGCCAGGGCGTATCCTGG	0.483																																						uc003jjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1471-1473)CCC>TCC		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						92.0	102.0	99.0					5																	35065589		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065589G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1471C>T	5.37:g.35065589G>A	ENSP00000371432:p.Pro491Ser					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.P390S	p.P491S	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2001	-	all_lung(31;3.83e-05)		491			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1471C>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.084020	0.01888	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87103	-2.21;-1.29;-2.21	5.8	-2.78	0.05859	.	1.212050	0.05559	N	0.568854	T	0.77798	0.4184	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.57974	-0.7718	10	0.12766	T	0.61	2.0571	5.6328	0.17520	0.0937:0.3735:0.3891:0.1437	.	491;390	P16471;P16471-2	PRLR_HUMAN;.	S	390;491;390	ENSP00000339213:P390S;ENSP00000371432:P491S;ENSP00000422556:P390S	ENSP00000339213:P390S	P	-	1	0	PRLR	35101346	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.395000	0.07287	-0.391000	0.07763	-0.165000	0.13383	CCC		PASS	0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			86	241	86	241	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43487036	43487036	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:43487036A>C	ENST00000306862.2	-	13	2273	c.1898T>G	c.(1897-1899)cTa>cGa	p.L633R	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	633								p.L633R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGAGTTTGATAGAAGACAGTC	0.308																																						uc003jnz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1897-1899)CTA>CGA		hypothetical protein LOC375444							64.0	65.0	65.0					5																	43487036		2202	4296	6498	SO:0001583	missense	375444							g.chr5:43487036A>C	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1898T>G	5.37:g.43487036A>C	ENSP00000303490:p.Leu633Arg						p.L633R	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			14	2215	-	Lung NSC(6;2.07e-05)		633						Missense_Mutation	SNP	ENST00000306862.2	37	c.1898T>G	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590412	0.66219	.	.	ENSG00000172244	ENST00000306862	T	0.61742	0.08	5.58	5.58	0.84498	.	0.100987	0.40302	N	0.001128	T	0.73806	0.3634	M	0.66939	2.045	0.44702	D	0.997695	D	0.89917	1.0	D	0.91635	0.999	T	0.76870	-0.2799	10	0.87932	D	0	-6.4657	13.9792	0.64295	1.0:0.0:0.0:0.0	.	633	Q96MH7	CE034_HUMAN	R	633	ENSP00000303490:L633R	ENSP00000303490:L633R	L	-	2	0	C5orf34	43522793	0.997000	0.39634	1.000000	0.80357	0.774000	0.43823	5.314000	0.65804	2.119000	0.64992	0.533000	0.62120	CTA		PASS	0.308	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		68	147	68	147	---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90667245	90667245	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:90667245T>C	ENST00000265138.3	-	8	1483	c.1217A>G	c.(1216-1218)gAt>gGt	p.D406G		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	406					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.D406G(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGGTCTATCATCTGCTGACTG	0.413																																						uc003kjz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1216-1218)GAT>GGT		arrestin domain containing 3							86.0	73.0	77.0					5																	90667245		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90667245T>C	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1217A>G	5.37:g.90667245T>C	ENSP00000265138:p.Asp406Gly						p.D406G	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	8	1457	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	406					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.1217A>G	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539055	0.45176	.	.	ENSG00000113369	ENST00000265138	T	0.08458	3.09	5.85	5.85	0.93711	.	0.409461	0.28803	N	0.014097	T	0.07863	0.0197	L	0.27053	0.805	0.44719	D	0.997718	B	0.19200	0.034	B	0.17722	0.019	T	0.34551	-0.9824	10	0.22706	T	0.39	-18.1556	16.2355	0.82371	0.0:0.0:0.0:1.0	.	406	Q96B67	ARRD3_HUMAN	G	406	ENSP00000265138:D406G	ENSP00000265138:D406G	D	-	2	0	ARRDC3	90703001	1.000000	0.71417	0.996000	0.52242	0.601000	0.36947	6.109000	0.71528	2.238000	0.73509	0.533000	0.62120	GAT		PASS	0.413	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		15	43	15	43	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115298562	115298562	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:115298562C>A	ENST00000357872.4	+	1	372	c.248C>A	c.(247-249)aCc>aAc	p.T83N	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		83						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T83N(1)									GTGACGACCACCCCGAGCAAC	0.692																																						uc003kro.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)ACC>AAC		laeverin							28.0	32.0	30.0					5																	115298562		2193	4287	6480	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298562C>A																												ENST00000357872.4:c.248C>A	5.37:g.115298562C>A	ENSP00000350541:p.Thr83Asn					AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	p.T83N	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			1	412	+			83			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.248C>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049390	0.36181	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.01295	5.04	3.89	3.89	0.44902	.	3.810030	0.00748	N	0.001044	T	0.01627	0.0052	N	0.14661	0.345	0.48901	D	0.999721	B	0.26400	0.148	B	0.19946	0.027	T	0.49670	-0.8915	10	0.33940	T	0.23	.	11.5682	0.50818	0.0:1.0:0.0:0.0	.	83	Q6Q4G3	AMPQ_HUMAN	N	83	ENSP00000350541:T83N	ENSP00000350541:T83N	T	+	2	0	AC010282.1	115326461	.	.	0.006000	0.13384	0.001000	0.01503	.	.	2.174000	0.68829	0.655000	0.94253	ACC		PASS	0.692	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			15	38	15	38	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187708	121187708	+	Missense_Mutation	SNP	C	C	T	rs570905707		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:121187708C>T	ENST00000321339.1	+	1	59	c.50C>T	c.(49-51)gCg>gTg	p.A17V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	17					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.A17V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTTCGCTGGCGTCTCTGCGC	0.726													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10469	0.0		0.0	False		,,,				2504	0.0					uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)GCG>GTG		ferritin mitochondrial precursor							20.0	23.0	22.0					5																	121187708		2201	4297	6498	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187708C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.50C>T	5.37:g.121187708C>T	ENSP00000313691:p.Ala17Val						p.A17V	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	59	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	17						Missense_Mutation	SNP	ENST00000321339.1	37	c.50C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	7.719	0.696813	0.15106	.	.	ENSG00000181867	ENST00000321339	T	0.61980	0.06	2.95	-2.52	0.06346	.	.	.	.	.	T	0.32102	0.0818	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13629	-1.0502	9	0.20046	T	0.44	.	3.3426	0.07124	0.2142:0.4355:0.0:0.3503	.	17	Q8N4E7	FTMT_HUMAN	V	17	ENSP00000313691:A17V	ENSP00000313691:A17V	A	+	2	0	FTMT	121215607	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.083000	0.11286	-0.560000	0.06102	-0.312000	0.09012	GCG		PASS	0.726	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		13	40	13	40	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140235897	140235897	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:140235897G>T	ENST00000307360.5	+	1	264	c.264G>T	c.(262-264)cgG>cgT	p.R88R	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Silent_p.R88R|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R88R(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTCTCGGATTGACCGCG	0.592																																						uc003lhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(262-264)CGG>CGT		protocadherin alpha 10 isoform 1 precursor							120.0	129.0	126.0					5																	140235897		2198	4277	6475	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140235897G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.264G>T	5.37:g.140235897G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.R88R|PCDHA10_uc011dad.1_Silent_p.R88R	p.R88R	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	264	+			88			Extracellular (Potential).|Cadherin 1.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.264G>T	CCDS54921.1																																																																																				PASS	0.592	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		81	183	81	183	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767900	140767900	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:140767900C>T	ENST00000519479.1	+	1	449	c.449C>T	c.(448-450)aCa>aTa	p.T150I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T150I(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTGGCACACGATTTATA	0.423																																						uc003lkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)ACA>ATA		protocadherin gamma subfamily B, 4 isoform 1							89.0	88.0	88.0					5																	140767900		1971	4171	6142	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140767900C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.449C>T	5.37:g.140767900C>T	ENSP00000428288:p.Thr150Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T150I	p.T150I	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	449	+			150			Extracellular (Potential).|Cadherin 2.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.449C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.304592	0.40795	.	.	ENSG00000253953	ENST00000519479	T	0.58210	0.35	4.95	3.1	0.35709	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60869	0.2302	M	0.91459	3.21	0.09310	N	1	B;B	0.34147	0.438;0.302	B;B	0.37451	0.25;0.214	T	0.60326	-0.7285	9	0.72032	D	0.01	.	6.9	0.24277	0.1312:0.6685:0.1273:0.0731	.	150;150	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	I	150	ENSP00000428288:T150I	ENSP00000428288:T150I	T	+	2	0	PCDHGB4	140748084	0.001000	0.12720	0.598000	0.28837	0.776000	0.43924	1.634000	0.37123	1.200000	0.43188	0.650000	0.86243	ACA		PASS	0.423	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		19	61	19	61	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149514533	149514533	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:149514533G>C	ENST00000261799.4	-	4	880	c.411C>G	c.(409-411)atC>atG	p.I137M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	137	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.I137M(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGAGAAAGATGAATAGTT	0.537			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(409-411)ATC>ATG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						109.0	113.0	111.0					5																	149514533		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149514533G>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.411C>G	5.37:g.149514533G>C	ENSP00000261799:p.Ile137Met					PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.I137M	p.I137M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	880	-		all_hematologic(541;0.224)	137			Extracellular (Potential).|Ig-like C2-type 2.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.411C>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196031	0.38806	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.48522	0.81;0.81;0.81	5.6	3.79	0.43588	Immunoglobulin-like fold (1);	0.213090	0.32769	N	0.005669	T	0.41971	0.1182	L	0.61036	1.89	0.37863	D	0.929785	B;B	0.27380	0.158;0.177	B;B	0.27500	0.052;0.08	T	0.35051	-0.9804	10	0.33141	T	0.24	.	8.035	0.30486	0.3126:0.0:0.6874:0.0	.	137;137	B5A957;P09619	.;PGFRB_HUMAN	M	137;73;137	ENSP00000261799:I137M;ENSP00000429218:I73M;ENSP00000430715:I137M	ENSP00000261799:I137M	I	-	3	3	PDGFRB	149494726	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.033000	0.30191	0.705000	0.31890	0.655000	0.94253	ATC		PASS	0.537	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		29	84	29	84	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153029961	153029961	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:153029961T>A	ENST00000285900.5	+	4	875	c.532T>A	c.(532-534)Ttg>Atg	p.L178M	GRIA1_ENST00000340592.5_Missense_Mutation_p.L178M|GRIA1_ENST00000518142.1_Missense_Mutation_p.L98M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L188M|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.L188M|GRIA1_ENST00000521843.2_Missense_Mutation_p.L109M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	178					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.L178M(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTCAACATTTTGACAACCAC	0.498																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(532-534)TTG>ATG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						118.0	113.0	114.0					5																	153029961		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153029961T>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.532T>A	5.37:g.153029961T>A	ENSP00000285900:p.Leu178Met					GRIA1_uc003luy.3_Missense_Mutation_p.L178M|GRIA1_uc003luz.3_Missense_Mutation_p.L83M|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.L98M|GRIA1_uc011dcx.1_Missense_Mutation_p.L109M|GRIA1_uc011dcy.1_Missense_Mutation_p.L188M|GRIA1_uc011dcz.1_Missense_Mutation_p.L188M|GRIA1_uc010jia.1_Missense_Mutation_p.L158M	p.L178M	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	897	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	178			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.532T>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537663	0.45176	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.33	0.772	0.18510	Extracellular ligand-binding receptor (1);	0.139448	0.46758	D	0.000266	T	0.15349	0.0370	N	0.22421	0.69	0.39576	D	0.969355	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.008;0.006;0.008;0.003;0.004	T	0.06899	-1.0801	10	0.62326	D	0.03	.	8.2386	0.31645	0.0:0.543:0.0:0.457	.	188;188;98;188;178;178	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	M	178;178;98;132;178;109;109;188;188	ENSP00000285900:L178M;ENSP00000427920:L98M;ENSP00000339343:L178M;ENSP00000427864:L109M;ENSP00000442108:L109M;ENSP00000428994:L188M;ENSP00000415569:L188M	ENSP00000285900:L178M	L	+	1	2	GRIA1	153010154	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.053000	0.30442	0.126000	0.18424	0.528000	0.53228	TTG		PASS	0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			21	66	21	66	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176314610	176314610	+	Missense_Mutation	SNP	C	C	T	rs61741552	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:176314610C>T	ENST00000292432.5	-	11	1533	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	481	Hexokinase type-1 2.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.R481H(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCAGCAGGCGCCGGTGGGC	0.662													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15390	0.0		0.0	False		,,,				2504	0.0					uc003mfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1441-1443)CGC>CAC		hexokinase 3		C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	31.0	31.0	31.0		1442	3.4	1.0	5	dbSNP_129	31	0,8600		0,0,4300	yes	missense	HK3	NM_002115.2	29	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign	481/924	176314610	11,12995	2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314610C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1442G>A	5.37:g.176314610C>T	ENSP00000292432:p.Arg481His					HK3_uc003mez.2_Missense_Mutation_p.R37H	p.R481H	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1534	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	481			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1442G>A	CCDS4407.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.02	1.236472	0.22711	0.002497	0.0	ENSG00000160883	ENST00000292432	D	0.98329	-4.87	4.3	3.43	0.39272	Hexokinase, N-terminal (1);	0.672268	0.13493	N	0.383804	D	0.95500	0.8538	L	0.41710	1.295	0.35000	D	0.755844	B	0.13594	0.008	B	0.15052	0.012	D	0.94277	0.7516	10	0.48119	T	0.1	-8.8971	7.9505	0.30012	0.0:0.8039:0.0:0.196	.	481	P52790	HXK3_HUMAN	H	481	ENSP00000292432:R481H	ENSP00000292432:R481H	R	-	2	0	HK3	176247216	0.000000	0.05858	0.988000	0.46212	0.044000	0.14063	-0.099000	0.11007	0.790000	0.33803	0.462000	0.41574	CGC		PASS	0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			11	23	11	23	---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176517820	176517820	+	Missense_Mutation	SNP	C	C	G	rs74633199		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr5:176517820C>G	ENST00000292408.4	+	4	675	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FGFR4_ENST00000393637.1_Missense_Mutation_p.Q144E|FGFR4_ENST00000292410.3_Missense_Mutation_p.Q144E|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q144E|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q144E	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	144					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.Q144E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CAGTTACCCCCAGCAAGGTCA	0.562										TSP Lung(9;0.080)																												uc003mfl.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(430-432)CAG>GAG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						109.0	100.0	103.0					5																	176517820		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517820C>G	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.430C>G	5.37:g.176517820C>G	ENSP00000292408:p.Gln144Glu	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.Q144E|FGFR4_uc011dfu.1_Missense_Mutation_p.Q144E|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.Q144E|FGFR4_uc011dfw.1_Missense_Mutation_p.Q144E|FGFR4_uc003mfo.2_Missense_Mutation_p.Q144E	p.Q144E	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	597	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	144			Extracellular (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.430C>G	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.039795	0.02013	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637	T;T;T;T;T;T	0.76968	-1.04;-0.79;-1.0;-1.04;-1.06;-1.06	5.26	5.26	0.73747	.	.	.	.	.	T	0.57607	0.2065	N	0.22421	0.69	0.21822	N	0.999529	B;P;P;B;B	0.41188	0.057;0.741;0.639;0.048;0.002	B;B;B;B;B	0.33690	0.022;0.159;0.168;0.017;0.001	T	0.53215	-0.8470	9	0.02654	T	1	.	11.5172	0.50529	0.1788:0.8212:0.0:0.0	.	144;144;144;144;144	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	E	144	ENSP00000292408:Q144E;ENSP00000424905:Q144E;ENSP00000377259:Q144E;ENSP00000424960:Q144E;ENSP00000292410:Q144E;ENSP00000377254:Q144E	ENSP00000292408:Q144E	Q	+	1	0	FGFR4	176450426	0.990000	0.36364	0.959000	0.39883	0.409000	0.31022	2.750000	0.47500	2.470000	0.83445	0.561000	0.74099	CAG		PASS	0.562	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			14	54	14	54	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25967059	25967059	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:25967059C>T	ENST00000357085.3	+	3	785	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TRIM38_ENST00000349458.3_Silent_p.F103F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	103					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.F103F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCCACCTGTTCTGCGAAGACG	0.567																																						uc003nfm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(307-309)TTC>TTT		tripartite motif-containing 38							62.0	59.0	60.0					6																	25967059		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967059C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.309C>T	6.37:g.25967059C>T						TRIM38_uc003nfn.2_Silent_p.F103F	p.F103F	NM_006355	NP_006346	O00635	TRI38_HUMAN			3	744	+			103			B box-type.		B2R862	Silent	SNP	ENST00000357085.3	37	c.309C>T	CCDS4568.1																																																																																				PASS	0.567	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			24	68	24	68	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327584	28327584	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:28327584G>T	ENST00000377255.3	+	3	518	c.221G>T	c.(220-222)tGg>tTg	p.W74L	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.W74L|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W74L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCCGACAGTGGCTGCAGCCT	0.677																																						uc003nle.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(220-222)TGG>TTG		zinc finger with KRAB and SCAN domains 3							43.0	48.0	47.0					6																	28327584		2202	4300	6502	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327584G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.221G>T	6.37:g.28327584G>T	ENSP00000366465:p.Trp74Leu					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.W74L|ZKSCAN3_uc003nlf.3_Intron	p.W74L	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	437	+			74			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.221G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	18.93	3.727767	0.69074	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.58060	0.36;0.36	3.56	3.56	0.40772	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.76807	0.4039	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84925	0.0856	9	0.87932	D	0	.	14.4122	0.67121	0.0:0.0:1.0:0.0	.	74	Q9BRR0	ZKSC3_HUMAN	L	74	ENSP00000252211:W74L;ENSP00000366465:W74L	ENSP00000252211:W74L	W	+	2	0	ZKSCAN3	28435563	0.997000	0.39634	0.999000	0.59377	0.969000	0.65631	2.050000	0.41297	1.986000	0.57962	0.460000	0.39030	TGG		PASS	0.677	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		10	35	10	35	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33247137	33247137	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:33247137C>A	ENST00000374617.4	-	15	2105	c.1749G>T	c.(1747-1749)caG>caT	p.Q583H	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	583							poly(A) RNA binding (GO:0044822)	p.Q583H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTGAAGGCTCTGCCGGACCT	0.642																																						uc003ods.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)CAG>CAT		WD repeat domain 46 isoform 1							86.0	92.0	90.0					6																	33247137		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33247137C>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1749G>T	6.37:g.33247137C>A	ENSP00000363746:p.Gln583His					WDR46_uc011dra.1_Missense_Mutation_p.Q529H	p.Q583H	NM_005452	NP_005443	O15213	WDR46_HUMAN			15	1793	-			583					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1749G>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896177	0.52121	.	.	ENSG00000227057	ENST00000374617	T	0.20881	2.04	5.49	1.73	0.24493	.	0.273217	0.41294	D	0.000920	T	0.18425	0.0442	L	0.56769	1.78	0.33754	D	0.621017	D;D	0.69078	0.997;0.997	P;P	0.59221	0.854;0.854	T	0.03095	-1.1073	9	.	.	.	-18.7747	7.4266	0.27102	0.0:0.6501:0.0:0.3499	.	529;583	B4DP15;O15213	.;WDR46_HUMAN	H	583	ENSP00000363746:Q583H	.	Q	-	3	2	WDR46	33355115	0.991000	0.36638	0.930000	0.37139	0.549000	0.35272	0.053000	0.14184	0.447000	0.26695	-0.275000	0.10095	CAG		PASS	0.642	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		4	185	4	185	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35201038	35201038	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:35201038T>A	ENST00000274938.7	+	6	672	c.672T>A	c.(670-672)caT>caA	p.H224Q	SCUBE3_ENST00000394681.1_Missense_Mutation_p.H224Q	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.H224Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCGGCTGCCATATCAAGTTTG	0.607																																						uc003okf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(670-672)CAT>CAA		signal peptide, CUB domain, EGF-like 3							47.0	45.0	45.0					6																	35201038		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35201038T>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.672T>A	6.37:g.35201038T>A	ENSP00000274938:p.His224Gln					SCUBE3_uc003okg.1_Missense_Mutation_p.H223Q|SCUBE3_uc003okh.1_Missense_Mutation_p.H95Q	p.H224Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			6	678	+			224			EGF-like 5.			Missense_Mutation	SNP	ENST00000274938.7	37	c.672T>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.044610	0.75732	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.95482	1.58;-3.72	4.58	-1.56	0.08532	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95274	0.8467	M	0.62209	1.925	0.49915	D	0.999839	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	D	0.93943	0.7225	10	0.62326	D	0.03	.	12.1809	0.54211	0.0:0.6498:0.0:0.3502	.	224;224	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	Q	224	ENSP00000378174:H224Q;ENSP00000274938:H224Q	ENSP00000274938:H224Q	H	+	3	2	SCUBE3	35309016	0.050000	0.20438	0.996000	0.52242	0.989000	0.77384	-0.715000	0.04997	-0.294000	0.08973	0.454000	0.30748	CAT		PASS	0.607	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		9	20	9	20	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38899660	38899660	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:38899660C>T	ENST00000359357.3	+	74	10951	c.10697C>T	c.(10696-10698)cCt>cTt	p.P3566L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P3783L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3530L|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3566	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P3566L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTACCAAATCCTGCCTTTACC	0.328																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10696-10698)CCT>CTT		dynein, axonemal, heavy polypeptide 8							152.0	153.0	153.0					6																	38899660		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38899660C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10697C>T	6.37:g.38899660C>T	ENSP00000352312:p.Pro3566Leu					DNAH8_uc003oog.1_Missense_Mutation_p.P15L|uc003oof.1_Intron	p.P3566L	NM_001371	NP_001362					74	11297	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10697C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.388475	0.82902	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.35421	1.31;1.31;1.31	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81295	-0.0997	10	0.87932	D	0	.	20.0585	0.97663	0.0:1.0:0.0:0.0	.	3530;3566	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	L	3771;3771;3566;3530	ENSP00000333363:P3771L;ENSP00000352312:P3566L;ENSP00000402294:P3530L	ENSP00000333363:P3771L	P	+	2	0	DNAH8	39007638	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	7.434000	0.80377	2.812000	0.96745	0.557000	0.71058	CCT		PASS	0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		14	245	14	245	---	---	---	---
TCTE1	202500	broad.mit.edu	37	6	44253968	44253968	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:44253968G>A	ENST00000371505.4	-	3	701	c.579C>T	c.(577-579)gtC>gtT	p.V193V	TCTE1_ENST00000371504.1_Silent_p.V40V|TCTE1_ENST00000371503.3_Silent_p.V40V|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	193								p.V193V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAACTGATCGACGTGGACCC	0.652																																						uc003oxi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(577-579)GTC>GTT		t-complex-associated testis expressed 1							42.0	41.0	42.0					6																	44253968		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44253968G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.579C>T	6.37:g.44253968G>A						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.V193V	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	735	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		193					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.579C>T	CCDS4910.1																																																																																				PASS	0.652	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		5	53	5	53	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51618128	51618128	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:51618128C>T	ENST00000371117.3	-	57	9096	c.8821G>A	c.(8821-8823)Ggc>Agc	p.G2941S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2941S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2941					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G2941S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCGGCCATCCTCCGTG	0.468																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8821-8823)GGC>AGC		fibrocystin isoform 1							85.0	75.0	79.0					6																	51618128		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618128C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8821G>A	6.37:g.51618128C>T	ENSP00000360158:p.Gly2941Ser					PKHD1_uc010jzn.1_Missense_Mutation_p.G924S|PKHD1_uc003pai.2_Missense_Mutation_p.G2941S	p.G2941S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			57	9097	-	Lung NSC(77;0.0605)		2941			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8821G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092288	0.36952	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.81996	-1.56;-1.56	5.75	4.88	0.63580	.	0.152719	0.46758	D	0.000268	T	0.80884	0.4709	M	0.72624	2.21	0.33138	D	0.544018	D;D;D	0.57899	0.959;0.981;0.959	B;P;P	0.57152	0.433;0.814;0.631	T	0.78275	-0.2267	10	0.21540	T	0.41	.	10.4478	0.44505	0.0:0.8504:0.0:0.1496	.	2941;2941;2941	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2941	ENSP00000360158:G2941S;ENSP00000341097:G2941S	ENSP00000341097:G2941S	G	-	1	0	PKHD1	51726087	0.995000	0.38212	0.904000	0.35570	0.146000	0.21551	1.463000	0.35277	1.408000	0.46895	0.655000	0.94253	GGC		PASS	0.468	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		19	71	19	71	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70812096	70812096	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:70812096A>G	ENST00000322773.4	+	16	1362	c.1260A>G	c.(1258-1260)ccA>ccG	p.P420P	COL19A1_ENST00000393344.1_Silent_p.P42P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	420	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P420P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCGGAAAACCAGGACCCCCAG	0.393																																						uc003pfc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(1258-1260)CCA>CCG		alpha 1 type XIX collagen precursor							102.0	105.0	104.0					6																	70812096		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70812096A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1260A>G	6.37:g.70812096A>G						COL19A1_uc010kam.1_Silent_p.P316P	p.P420P	NM_001858	NP_001849	Q14993	COJA1_HUMAN			16	1377	+			420			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.1260A>G	CCDS4970.1																																																																																				PASS	0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			32	147	32	147	---	---	---	---
PNRC1	10957	broad.mit.edu	37	6	89793726	89793726	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:89793726G>T	ENST00000336032.3	+	2	912	c.795G>T	c.(793-795)aaG>aaT	p.K265N	PNRC1_ENST00000354922.3_Missense_Mutation_p.K80N|PNRC1_ENST00000369472.1_Missense_Mutation_p.K80N	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K265N(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CGCATTTGAAGAAATCAGCAT	0.373										Multiple Myeloma(7;0.094)																												uc003pmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)AAG>AAT		proline-rich nuclear receptor coactivator 1							64.0	71.0	69.0					6																	89793726		2203	4300	6503	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89793726G>T	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.795G>T	6.37:g.89793726G>T	ENSP00000336931:p.Lys265Asn	Multiple Myeloma(7;0.094)				PNRC1_uc003pmx.2_Missense_Mutation_p.K80N	p.K265N	NM_006813	NP_006804	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	2	980	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	265					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.795G>T	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914011	0.52546	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.49432	0.87;0.78;0.87	5.73	4.84	0.62591	.	0.110153	0.64402	D	0.000010	T	0.49983	0.1589	L	0.52364	1.645	0.42515	D	0.992982	D	0.89917	1.0	D	0.76575	0.988	T	0.54761	-0.8245	10	0.52906	T	0.07	-11.9522	10.8301	0.46654	0.0703:0.1323:0.7973:0.0	.	265	Q12796	PNRC1_HUMAN	N	80;265;80	ENSP00000358484:K80N;ENSP00000336931:K265N;ENSP00000347000:K80N	ENSP00000336931:K265N	K	+	3	2	PNRC1	89850445	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.140000	0.50585	1.348000	0.45733	0.655000	0.94253	AAG		PASS	0.373	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		35	149	35	149	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123539864	123539864	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:123539864C>A	ENST00000398178.3	-	41	2093	c.2072G>T	c.(2071-2073)tGt>tTt	p.C691F	TRDN_ENST00000334268.4_Missense_Mutation_p.C683F	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	691					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.C691F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CAAGTAGACACACTGGAAGAA	0.478																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2071-2073)TGT>TTT		triadin							85.0	77.0	80.0					6																	123539864		1985	4172	6157	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123539864C>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2072G>T	6.37:g.123539864C>A	ENSP00000381240:p.Cys691Phe					TRDN_uc010kem.1_Missense_Mutation_p.C192F	p.C691F	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	41	2094	-			691			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.2072G>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999479	0.54147	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.38240	1.17;1.15	5.24	5.24	0.73138	.	0.000000	0.42548	D	0.000693	T	0.37544	0.1007	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.35276	-0.9795	10	0.72032	D	0.01	-6.8972	14.323	0.66499	0.0:1.0:0.0:0.0	.	691	Q13061	TRDN_HUMAN	F	691;693;683	ENSP00000381240:C691F;ENSP00000333984:C683F	ENSP00000333984:C683F	C	-	2	0	TRDN	123581563	0.999000	0.42202	0.972000	0.41901	0.498000	0.33706	3.949000	0.56668	2.439000	0.82584	0.655000	0.94253	TGT		PASS	0.478	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	13	3	13	---	---	---	---
VNN1	8876	broad.mit.edu	37	6	133013397	133013397	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:133013397C>G	ENST00000367928.4	-	5	1166	c.1153G>C	c.(1153-1155)Gga>Cga	p.G385R		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	385					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.G385R(2)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGTGCAGTCCGTCAAATGCC	0.368																																						uc003qdo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(1153-1155)GGA>CGA		vanin 1 precursor							106.0	101.0	103.0					6																	133013397		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133013397C>G	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1153G>C	6.37:g.133013397C>G	ENSP00000356905:p.Gly385Arg						p.G385R	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	1173	-	Breast(56;0.135)		385					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.1153G>C	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400078	0.83120	.	.	ENSG00000112299	ENST00000367928	D	0.91180	-2.8	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	M	0.93594	3.435	0.58432	D	0.999999	D	0.71674	0.998	D	0.68621	0.959	D	0.96946	0.9691	10	0.87932	D	0	-19.2659	19.8316	0.96638	0.0:1.0:0.0:0.0	.	385	O95497	VNN1_HUMAN	R	385	ENSP00000356905:G385R	ENSP00000356905:G385R	G	-	1	0	VNN1	133055090	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.096000	0.71446	2.687000	0.91594	0.563000	0.77884	GGA		PASS	0.368	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			35	184	35	184	---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126164	146126164	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:146126164T>C	ENST00000237281.4	-	2	1544	c.1378A>G	c.(1378-1380)Act>Gct	p.T460A		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	460							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T460A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGTGAAAAAGTCTGAGTCCCA	0.443																																						uc003qla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1378-1380)ACT>GCT		F-box only protein 30							168.0	165.0	166.0					6																	146126164		2203	4299	6502	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126164T>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1378A>G	6.37:g.146126164T>C	ENSP00000237281:p.Thr460Ala					uc003qky.1_Intron	p.T460A	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1577	-		Ovarian(120;0.0776)	460					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1378A>G	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.691940	0.68271	.	.	ENSG00000118496	ENST00000237281	T	0.47869	0.83	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70270	-0.4918	10	0.87932	D	0	-19.8994	16.4277	0.83824	0.0:0.0:0.0:1.0	.	460	Q8TB52	FBX30_HUMAN	A	460	ENSP00000237281:T460A	ENSP00000237281:T460A	T	-	1	0	FBXO30	146167857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	ACT		PASS	0.443	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			49	254	49	254	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152265432	152265432	+	Silent	SNP	G	G	T	rs368367164	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:152265432G>T	ENST00000206249.3	+	4	1247	c.885G>T	c.(883-885)ccG>ccT	p.P295P	ESR1_ENST00000440973.1_Silent_p.P295P|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Silent_p.P295P|ESR1_ENST00000443427.1_Silent_p.P295P|ESR1_ENST00000427531.2_Silent_p.P122P	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	295	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.|Self-association.				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)	p.P295P(1)		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)	GGCCAAGCCCGCTCATGATCA	0.562																																						uc003qom.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(883-885)CCG>CCT		estrogen receptor alpha isoform 4	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)						113.0	111.0	112.0					6																	152265432		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152265432G>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.885G>T	6.37:g.152265432G>T						ESR1_uc010kin.2_Silent_p.P295P|ESR1_uc010kio.2_Silent_p.P297P|ESR1_uc010kip.2_Silent_p.P294P|ESR1_uc003qon.3_Silent_p.P295P|ESR1_uc003qoo.3_Silent_p.P295P|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.P76P|ESR1_uc010kit.1_Silent_p.P32P|ESR1_uc011eey.1_Silent_p.P32P	p.P295P	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1255	+		Ovarian(120;0.0448)	295			Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.885G>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	5.046	0.194111	0.09599	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.66	-8.73	0.00841	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40232	-0.9574	4	.	.	.	.	1.5321	0.02538	0.2628:0.3415:0.1745:0.2211	.	.	.	.	L	200	.	.	R	+	2	0	ESR1	152307125	0.000000	0.05858	0.062000	0.19696	0.568000	0.35870	-2.376000	0.01070	-1.739000	0.01347	-0.262000	0.10625	CGC		PASS	0.562	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			28	137	28	137	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152668193	152668193	+	Splice_Site	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:152668193C>A	ENST00000367255.5	-	73	12680		c.e73+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGGCACTCACCCTCTGAGCT	0.483										HNSCC(10;0.0054)																												uc010kiw.2																			3	Unknown(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.e73+1		spectrin repeat containing, nuclear envelope 1							131.0	108.0	116.0					6																	152668193		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152668193C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12078+1G>T	6.37:g.152668193C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.R3955_splice|SYNE1_uc003qou.3_Splice_Site_p.R4026_splice|SYNE1_uc010kja.1_Splice_Site_p.R731_splice	p.R4026_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	73	12680	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.12078_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830111	0.91036	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152709886	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.441000	0.80485	2.793000	0.96121	0.655000	0.94253	.		PASS	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	17	76	17	76	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152746553	152746553	+	Missense_Mutation	SNP	C	C	T	rs540091060		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:152746553C>T	ENST00000367255.5	-	39	5831	c.5230G>A	c.(5230-5232)Gag>Aag	p.E1744K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1751K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1751K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1781K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1744K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1744					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E1744K(4)|p.E1751K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCATCTCTCATCCAACTGC	0.318										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18696	0.0		0.0	False		,,,				2504	0.0					uc010kiw.2																			6	Substitution - Missense(6)		lung(6)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5230-5232)GAG>AAG		spectrin repeat containing, nuclear envelope 1							158.0	152.0	154.0					6																	152746553		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152746553C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5230G>A	6.37:g.152746553C>T	ENSP00000356224:p.Glu1744Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1751K|SYNE1_uc003qou.3_Missense_Mutation_p.E1744K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1727K	p.E1744K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	39	5832	-		Ovarian(120;0.0955)	1744			Spectrin 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5230G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471120	0.43942	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000007	T	0.22126	0.0533	L	0.43923	1.385	0.80722	D	1	D;P;P;B	0.54397	0.966;0.717;0.717;0.274	P;B;B;B	0.46144	0.505;0.227;0.227;0.112	T	0.02275	-1.1184	10	0.11485	T	0.65	.	16.1549	0.81657	0.0:0.8667:0.1333:0.0	.	1727;1744;1744;1751	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	1744;1751;1744;1751;1781	ENSP00000356224:E1744K;ENSP00000396024:E1751K;ENSP00000265368:E1744K;ENSP00000390975:E1751K;ENSP00000341887:E1781K	ENSP00000265368:E1744K	E	-	1	0	SYNE1	152788246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.453000	0.35167	2.701000	0.92244	0.637000	0.83480	GAG		PASS	0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		44	162	44	162	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152762360	152762360	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr6:152762360C>A	ENST00000367255.5	-	32	4655	c.4054G>T	c.(4054-4056)Gta>Tta	p.V1352L	SYNE1_ENST00000367253.4_Missense_Mutation_p.V1352L|SYNE1_ENST00000423061.1_Missense_Mutation_p.V1359L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V1359L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V1418L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V1352L|SYNE1_ENST00000413186.2_Missense_Mutation_p.V1352L|SYNE1_ENST00000367248.3_Missense_Mutation_p.V1342L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1352					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V1352L(2)|p.V1359L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTTACTACTGTTTCTTTG	0.323										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4054-4056)GTA>TTA		spectrin repeat containing, nuclear envelope 1							84.0	72.0	76.0					6																	152762360		2202	4298	6500	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152762360C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4054G>T	6.37:g.152762360C>A	ENSP00000356224:p.Val1352Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V1359L|SYNE1_uc003qou.3_Missense_Mutation_p.V1352L|SYNE1_uc010kjb.1_Missense_Mutation_p.V1335L|SYNE1_uc003qow.2_Missense_Mutation_p.V647L|SYNE1_uc003qox.1_Missense_Mutation_p.V868L	p.V1352L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	32	4656	-		Ovarian(120;0.0955)	1352			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4054G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458438	0.84317	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.89939	0.42;0.39;0.32;0.39;0.41;-1.89;-2.59;-2.57	5.47	5.47	0.80525	.	0.000000	0.50627	D	0.000116	D	0.84969	0.5590	M	0.71581	2.175	0.80722	D	1	P;B;P;P;B;P	0.52170	0.842;0.376;0.916;0.951;0.376;0.916	B;B;P;P;B;P	0.49252	0.272;0.104;0.527;0.604;0.104;0.527	D	0.83809	0.0240	10	0.07482	T	0.82	.	13.9306	0.63994	0.0:0.9268:0.0:0.0731	.	1335;1352;1342;1352;1352;1359	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	L	1352;1359;1352;1359;1418;1352;1342;1352	ENSP00000356224:V1352L;ENSP00000396024:V1359L;ENSP00000265368:V1352L;ENSP00000390975:V1359L;ENSP00000341887:V1418L;ENSP00000356222:V1352L;ENSP00000356217:V1342L;ENSP00000414510:V1352L	ENSP00000265368:V1352L	V	-	1	0	SYNE1	152804053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.592000	0.61027	2.729000	0.93468	0.591000	0.81541	GTA		PASS	0.323	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	32	8	32	---	---	---	---
GET4	51608	broad.mit.edu	37	7	926205	926206	+	Splice_Site	DNP	GC	GC	AT			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:926205_926206GC>AT	ENST00000265857.3	+	3	328_329	c.234_235GC>AT	c.(232-237)caGCaa>caATaa	p.Q79*	GET4_ENST00000407192.1_Splice_Site_p.Q26*|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	79					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)		p.?(2)|p.Q79*(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCTCTTGTAGCAAAACAGTGC	0.559																																						uc003sjl.1																			3	Unknown(2)|Substitution - Nonsense(1)		lung(3)		0						c.e3-1|c.(235-237)CAA>TAA		hypothetical protein LOC51608																																				SO:0001630	splice_region_variant	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:926205G>A|g.chr7:926206C>T	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	Exception_encountered	7.37:g.926205_926206delinsAT						GET4_uc003sjj.1_Splice_Site|GET4_uc003sjj.1_RNA	p.Q79_splice|p.Q79*	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN			3	327	+			|79					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Splice_Site|Nonsense_Mutation	SNP	ENST00000265857.3	37	c.235_splice|c.235C>T	CCDS5317.1																																																																																				PASS	0.559	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949	Nonsense_Mutation	24|25	205	24	205	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11464333	11464333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:11464333G>A	ENST00000423059.4	-	16	3624	c.3373C>T	c.(3373-3375)Cga>Tga	p.R1125*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1125	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1125R(1)|p.R1125*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCACTTTTCGGGTTTGCACG	0.488										HNSCC(18;0.044)																												uc003ssf.3																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)	ovary(3)	3						c.(3373-3375)CGA>TGA		thrombospondin, type I, domain containing 7A							239.0	225.0	230.0					7																	11464333		1970	4165	6135	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11464333G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3373C>T	7.37:g.11464333G>A	ENSP00000406482:p.Arg1125*	HNSCC(18;0.044)					p.R1125*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	15	3625	-			1125			TSP type-1 11.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.3373C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	45	11.355805	0.99551	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.85	4.96	0.65561	.	0.052691	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3404	0.60540	0.0:0.0:0.5734:0.4266	.	.	.	.	X	1125	.	ENSP00000262042:R1125X	R	-	1	2	THSD7A	11430858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.401000	0.44513	1.446000	0.47643	0.655000	0.94253	CGA		PASS	0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		142	271	142	271	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148028	27148028	+	Missense_Mutation	SNP	T	T	A	rs375321122		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:27148028T>A	ENST00000396352.4	-	3	1037	c.838A>T	c.(838-840)Atg>Ttg	p.M280L	HOXA3_ENST00000317201.2_Missense_Mutation_p.M280L|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	280					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M280L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGCGAATGCATAGAGTTCAGA	0.657																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(838-840)ATG>TTG		homeobox A3 isoform a							79.0	82.0	81.0					7																	27148028		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148028T>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.838A>T	7.37:g.27148028T>A	ENSP00000379640:p.Met280Leu					HOXA3_uc011jzk.1_Missense_Mutation_p.M122L|HOXA3_uc003syk.2_Missense_Mutation_p.M280L	p.M280L	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1038	-			280					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.838A>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026124	0.35701	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.84800	-1.9;-1.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	L	0.35487	1.065	0.58432	D	0.999998	P	0.49358	0.923	P	0.46479	0.518	T	0.77161	-0.2689	10	0.07325	T	0.83	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	280	O43365	HXA3_HUMAN	L	280;280;122	ENSP00000379640:M280L;ENSP00000324884:M280L	ENSP00000324884:M280L	M	-	1	0	HOXA3	27114553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.874000	0.69652	2.055000	0.61198	0.533000	0.62120	ATG		PASS	0.657	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			72	48	72	48	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187553	57187553	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:57187553A>G	ENST00000331162.4	-	5	1839	c.1569T>C	c.(1567-1569)tgT>tgC	p.C523C		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C523C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATATTATTCACATTTGTAGG	0.353																																						uc010kzo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1567-1569)TGT>TGC		zinc finger protein 479							41.0	40.0	40.0					7																	57187553		1953	4172	6125	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187553A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1569T>C	7.37:g.57187553A>G							p.C523C	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1840	-			523						Silent	SNP	ENST00000331162.4	37	c.1569T>C	CCDS43590.1																																																																																				PASS	0.353	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	54	8	54	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						uc003tya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)CGG>CAG		FK506 binding protein 6 isoform a							131.0	112.0	118.0					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln					FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.R98Q|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.R103Q	NM_003602	NP_003593	O75344	FKBP6_HUMAN			4	440	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		PASS	0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		7	54	7	54	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72744255	72744255	+	Missense_Mutation	SNP	G	G	C	rs1064197		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:72744255G>C	ENST00000252037.4	+	4	437	c.368G>C	c.(367-369)tGc>tCc	p.C123S	FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S|TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	123	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			C -> S (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C123S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGCTGGGCTGCCCTCCCTTG	0.547																																						uc003tya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)TGC>TCC		FK506 binding protein 6 isoform a							134.0	119.0	124.0					7																	72744255		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744255G>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.368G>C	7.37:g.72744255G>C	ENSP00000252037:p.Cys123Ser					FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.C118S|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.C123S	NM_003602	NP_003593	O75344	FKBP6_HUMAN			4	500	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	123			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.368G>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152779	0.57259	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;D;T	0.85088	1.06;1.06;-1.94;1.06	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	N	0.12663	0.25	0.80722	D	1	P;P	0.35363	0.497;0.49	B;B	0.44315	0.116;0.446	T	0.73477	-0.3970	10	0.11182	T	0.66	-17.6513	15.8937	0.79322	0.0:0.0:1.0:0.0	rs1064197;rs2883080	118;123	O75344-2;O75344	.;FKBP6_HUMAN	S	118;118;93;123	ENSP00000416277:C118S;ENSP00000402360:C118S;ENSP00000394952:C93S;ENSP00000252037:C123S	ENSP00000252037:C123S	C	+	2	0	FKBP6	72382191	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	9.308000	0.96247	2.101000	0.63845	0.485000	0.47835	TGC		PASS	0.547	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		10	81	10	81	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72744316	72744316	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:72744316G>A	ENST00000252037.4	+	4	498	c.429G>A	c.(427-429)ctG>ctA	p.L143L	FKBP6_ENST00000413573.2_Silent_p.L113L|TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000431982.2_Silent_p.L138L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	143	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.L143L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTGACTTCCTGGACTGTGCTG	0.498																																						uc003tya.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)CTG>CTA		FK506 binding protein 6 isoform a							106.0	96.0	99.0					7																	72744316		2203	4300	6503	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744316G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.429G>A	7.37:g.72744316G>A						FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.L138L|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.L143L	NM_003602	NP_003593	O75344	FKBP6_HUMAN			4	561	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	143			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.429G>A	CCDS43595.1																																																																																				PASS	0.498	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		14	73	14	73	---	---	---	---
WBSCR22	114049	broad.mit.edu	37	7	73101371	73101371	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:73101371G>A	ENST00000265758.2	+	5	366	c.308G>A	c.(307-309)gGg>gAg	p.G103E	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.G103E	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	103					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.G103E(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCTGCTGGGGGATATGGGC	0.488																																						uc003tyt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GGG>GAG		Williams Beuren syndrome chromosome region 22							67.0	68.0	67.0					7																	73101371		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73101371G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.308G>A	7.37:g.73101371G>A	ENSP00000265758:p.Gly103Glu					WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Missense_Mutation_p.G103E|WBSCR22_uc003tyv.2_Missense_Mutation_p.G65E|WBSCR22_uc003tyw.1_Intron	p.G103E	NM_017528	NP_059998	O43709	WBS22_HUMAN			5	366	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.308G>A	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900669	0.52227	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	T;T	0.42131	0.98;0.98	4.83	4.83	0.62350	Methyltransferase type 11 (1);	0.103067	0.64402	N	0.000003	T	0.60843	0.2300	M	0.71871	2.18	0.80722	D	1	D;D	0.59767	0.986;0.958	P;P	0.62560	0.833;0.904	T	0.64045	-0.6499	10	0.59425	D	0.04	-16.9486	15.4494	0.75262	0.0:0.0:1.0:0.0	.	103;103	C9K060;O43709	.;WBS22_HUMAN	E	103	ENSP00000265758:G103E;ENSP00000401191:G103E	ENSP00000265758:G103E	G	+	2	0	WBSCR22	72739307	1.000000	0.71417	0.891000	0.34965	0.026000	0.11368	6.938000	0.75904	2.512000	0.84698	0.555000	0.69702	GGG		PASS	0.488	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			5	197	5	197	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764123	82764123	+	Missense_Mutation	SNP	C	C	A	rs574502381		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:82764123C>A	ENST00000333891.9	-	3	3080	c.2743G>T	c.(2743-2745)Gcc>Tcc	p.A915S	PCLO_ENST00000423517.2_Missense_Mutation_p.A915S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A915S(2)|p.A861S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTGGGGGCATCAGTAATA	0.502																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2743-2745)GCC>TCC		piccolo isoform 1							94.0	93.0	94.0					7																	82764123		1928	4141	6069	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764123C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2743G>T	7.37:g.82764123C>A	ENSP00000334319:p.Ala915Ser					PCLO_uc003uhv.2_Missense_Mutation_p.A915S	p.A915S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	3032	-			861			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2743G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725936	0.30593	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	5.97	4.17	0.49024	.	.	.	.	.	T	0.18425	0.0442	M	0.65975	2.015	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.14578	0.011;0.011	T	0.04930	-1.0917	9	0.87932	D	0	.	6.1245	0.20172	0.2699:0.5943:0.0:0.1358	.	915;915	Q9Y6V0-5;Q9Y6V0-6	.;.	S	861;915;915	ENSP00000334319:A915S;ENSP00000388393:A915S	ENSP00000334319:A915S	A	-	1	0	PCLO	82602059	0.656000	0.27385	0.983000	0.44433	0.989000	0.77384	0.189000	0.17037	0.858000	0.35431	0.655000	0.94253	GCC		PASS	0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		117	106	117	106	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86416093	86416093	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:86416093C>A	ENST00000361669.2	+	3	2084	c.985C>A	c.(985-987)Cct>Act	p.P329T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P201T|GRM3_ENST00000394720.2_Missense_Mutation_p.P327T|GRM3_ENST00000439827.1_Missense_Mutation_p.P329T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	329					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.P329T(1)|p.P329F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGCCTCCCAGCCTGTCCGCCA	0.642																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(985-987)CCT>ACT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						35.0	35.0	35.0					7																	86416093		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416093C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.985C>A	7.37:g.86416093C>A	ENSP00000355316:p.Pro329Thr					GRM3_uc010lef.2_Missense_Mutation_p.P327T|GRM3_uc010leg.2_Missense_Mutation_p.P201T|GRM3_uc010leh.2_Intron	p.P329T	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2084	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		329			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.985C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466533	0.26335	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.154448	0.64402	D	0.000014	T	0.76997	0.4066	L	0.35487	1.065	0.58432	D	0.999999	B;B;B	0.18968	0.007;0.032;0.004	B;B;B	0.20184	0.027;0.016;0.028	T	0.69803	-0.5046	10	0.17369	T	0.5	.	19.3249	0.94258	0.0:1.0:0.0:0.0	.	201;329;329	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	329;201;329;327	ENSP00000355316:P329T;ENSP00000441407:P201T;ENSP00000398767:P329T;ENSP00000378209:P327T	ENSP00000355316:P329T	P	+	1	0	GRM3	86254029	0.992000	0.36948	0.151000	0.22473	0.944000	0.59088	5.999000	0.70665	2.805000	0.96524	0.655000	0.94253	CCT		PASS	0.642	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			23	16	23	16	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965674	88965674	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:88965674C>A	ENST00000333190.4	+	4	3987	c.3378C>A	c.(3376-3378)gaC>gaA	p.D1126E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1126							metal ion binding (GO:0046872)	p.D1126E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAACCTGACAAAGTCGAAG	0.338										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3376-3378)GAC>GAA		zinc finger protein 804B							55.0	56.0	56.0					7																	88965674		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965674C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3378C>A	7.37:g.88965674C>A	ENSP00000329638:p.Asp1126Glu	HNSCC(36;0.09)					p.D1126E	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3916	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1126					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3378C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811449	0.32053	.	.	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.61	2.8	0.32819	.	0.194032	0.36778	N	0.002403	T	0.06005	0.0156	L	0.32530	0.975	0.27305	N	0.957479	D	0.57257	0.979	P	0.47528	0.549	T	0.24977	-1.0145	10	0.36615	T	0.2	-18.5215	4.5082	0.11898	0.0:0.5768:0.0:0.4232	.	1126	A4D1E1	Z804B_HUMAN	E	1126	ENSP00000329638:D1126E	ENSP00000329638:D1126E	D	+	3	2	ZNF804B	88803610	1.000000	0.71417	0.998000	0.56505	0.157000	0.22087	2.152000	0.42272	1.302000	0.44855	-0.136000	0.14681	GAC		PASS	0.338	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		89	98	89	98	---	---	---	---
TRIM4	89122	broad.mit.edu	37	7	99490142	99490142	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:99490142C>G	ENST00000355947.2	-	7	1276	c.1147G>C	c.(1147-1149)Gaa>Caa	p.E383Q	TRIM4_ENST00000349062.2_Missense_Mutation_p.E357Q	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	383	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E383Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTCTCAACTTCCCAGTAATGT	0.468																																						uc003usd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1147-1149)GAA>CAA		tripartite motif protein TRIM4 isoform alpha							140.0	140.0	140.0					7																	99490142		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99490142C>G	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1147G>C	7.37:g.99490142C>G	ENSP00000348216:p.Glu383Gln					TRIM4_uc003use.2_Missense_Mutation_p.E357Q|TRIM4_uc011kjc.1_Missense_Mutation_p.E213Q	p.E383Q	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			7	1277	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	383			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1147G>C	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306115	0.60305	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.77877	-1.13;-1.13	2.64	1.72	0.24424	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86752	0.6008	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85928	0.1450	9	0.87932	D	0	.	8.7044	0.34345	0.2287:0.7712:0.0:0.0	.	357;383	Q9C037-2;Q9C037	.;TRIM4_HUMAN	Q	383;357;213	ENSP00000348216:E383Q;ENSP00000275736:E357Q	ENSP00000275736:E357Q	E	-	1	0	TRIM4	99328078	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	4.660000	0.61511	0.656000	0.30886	0.655000	0.94253	GAA		PASS	0.468	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		57	219	57	219	---	---	---	---
PPP1R35	221908	broad.mit.edu	37	7	100032996	100032996	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:100032996C>T	ENST00000292330.2	-	4	939	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	250					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.R250Q(1)									CGCTTCCCATCGCCTCAGTGT	0.507																																						uc003uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)CGA>CAA		hypothetical protein LOC221908							62.0	63.0	63.0					7																	100032996		2203	4300	6503	SO:0001583	missense	221908							g.chr7:100032996C>T	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.749G>A	7.37:g.100032996C>T	ENSP00000292330:p.Arg250Gln					C7orf47_uc003uux.1_Missense_Mutation_p.R148Q	p.R250Q	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN			4	846	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		250					A4D2C5	Missense_Mutation	SNP	ENST00000292330.2	37	c.749G>A	CCDS5694.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056161	0.76074	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.22	3.34	0.38264	.	0.231906	0.28296	N	0.015869	T	0.19087	0.0458	N	0.19112	0.55	0.28533	N	0.912516	D	0.61080	0.989	P	0.45474	0.482	T	0.05419	-1.0886	9	0.19147	T	0.46	-7.1501	8.1809	0.31311	0.0:0.8895:0.0:0.1105	.	250	Q8TAP8	PPR35_HUMAN	Q	250	.	ENSP00000292330:R250Q	R	-	2	0	C7orf47	99870932	0.886000	0.30341	0.993000	0.49108	0.941000	0.58515	1.624000	0.37018	1.127000	0.42034	0.491000	0.48974	CGA		PASS	0.507	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		4	88	4	88	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108142996	108142996	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:108142996A>G	ENST00000422087.1	-	6	1703	c.1297T>C	c.(1297-1299)Tat>Cat	p.Y433H	PNPLA8_ENST00000453144.1_Missense_Mutation_p.Y333H|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.Y433H|PNPLA8_ENST00000426128.2_Missense_Mutation_p.Y433H|PNPLA8_ENST00000388728.5_Missense_Mutation_p.Y433H|PNPLA8_ENST00000436062.1_Missense_Mutation_p.Y433H	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	433					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.Y433H(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGATCCACATAGCCAATTAGG	0.358																																						uc003vff.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1297-1299)TAT>CAT		patatin-like phospholipase domain containing 8							107.0	108.0	108.0					7																	108142996		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108142996A>G	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1297T>C	7.37:g.108142996A>G	ENSP00000410804:p.Tyr433His					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.Y433H|PNPLA8_uc003vfi.1_Missense_Mutation_p.Y333H|PNPLA8_uc003vfj.1_Missense_Mutation_p.Y433H|PNPLA8_uc003vfk.1_Missense_Mutation_p.Y333H	p.Y433H	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			6	1704	-			433					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1297T>C	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857521	0.91433	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43114	-0.9411	10	0.52906	T	0.07	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	433	Q9NP80	PLPL8_HUMAN	H	433;433;433;433;333;433;333	ENSP00000394988:Y433H;ENSP00000257694:Y433H;ENSP00000373380:Y433H;ENSP00000410804:Y433H;ENSP00000387789:Y333H;ENSP00000406779:Y433H;ENSP00000402274:Y333H	ENSP00000257694:Y433H	Y	-	1	0	PNPLA8	107930232	1.000000	0.71417	0.929000	0.37066	0.988000	0.76386	9.307000	0.96226	2.333000	0.79357	0.482000	0.46254	TAT		PASS	0.358	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		3	180	3	180	---	---	---	---
TMEM209	84928	broad.mit.edu	37	7	129813706	129813706	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:129813706G>T	ENST00000397622.2	-	12	1540	c.1418C>A	c.(1417-1419)aCt>aAt	p.T473N	TMEM209_ENST00000336804.8_Missense_Mutation_p.T430N|TMEM209_ENST00000473456.1_Missense_Mutation_p.T431N|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.T472N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	473						integral component of membrane (GO:0016021)		p.T472N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGAAGTAAAAGTTTTTCCGTC	0.368																																						uc003vpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1417-1419)ACT>AAT		transmembrane protein 209							200.0	193.0	195.0					7																	129813706		1827	4089	5916	SO:0001583	missense	84928					integral to membrane		g.chr7:129813706G>T		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1418C>A	7.37:g.129813706G>T	ENSP00000380747:p.Thr473Asn					TMEM209_uc010lmc.1_Missense_Mutation_p.T431N	p.T473N	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			12	1541	-	Melanoma(18;0.0435)		473					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.1418C>A	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939524	0.73557	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.47	5.47	0.80525	.	0.048667	0.85682	D	0.000000	T	0.55721	0.1938	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.961;0.977	T	0.52079	-0.8623	10	0.39692	T	0.17	-16.6248	18.3025	0.90168	0.0:0.0:1.0:0.0	.	431;473	Q96SK2-3;Q96SK2	.;TM209_HUMAN	N	473;472;431;430	ENSP00000380747:T473N;ENSP00000419697:T472N;ENSP00000417258:T431N;ENSP00000338388:T430N	ENSP00000338388:T430N	T	-	2	0	TMEM209	129600942	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	9.131000	0.94446	2.571000	0.86741	0.557000	0.71058	ACT		PASS	0.368	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		161	184	161	184	---	---	---	---
WDR91	29062	broad.mit.edu	37	7	134890771	134890771	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:134890771C>T	ENST00000354475.4	-	5	665	c.634G>A	c.(634-636)Gag>Aag	p.E212K	WDR91_ENST00000344400.5_Missense_Mutation_p.E212K|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.E177K	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	212								p.E212K(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTTGCTCCTCTTTCTTCAGT	0.517																																						uc003vsp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(634-636)GAG>AAG		WD repeat domain 91							301.0	262.0	275.0					7																	134890771		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134890771C>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.634G>A	7.37:g.134890771C>T	ENSP00000346466:p.Glu212Lys					WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	p.E212K	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			5	696	-			212			Potential.		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.634G>A	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954007	0.92660	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91686	-2.89;-2.89;-2.89	5.48	5.48	0.80851	.	0.136866	0.51477	D	0.000081	D	0.87924	0.6300	L	0.27053	0.805	0.58432	D	0.999999	B	0.30406	0.278	B	0.27887	0.084	D	0.85847	0.1401	10	0.56958	D	0.05	-12.0436	19.7139	0.96107	0.0:1.0:0.0:0.0	.	212	A4D1P6	WDR91_HUMAN	K	212;212;177	ENSP00000340877:E212K;ENSP00000346466:E212K;ENSP00000392555:E177K	ENSP00000340877:E212K	E	-	1	0	WDR91	134541311	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.456000	0.73501	2.722000	0.93159	0.655000	0.94253	GAG		PASS	0.517	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		8	300	8	300	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478538	141478538	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:141478538T>C	ENST00000247881.2	+	1	297	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	84					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.F84L(1)		endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GTCTGCTTTTTTTGTGTTGTG	0.428																																						uc003vwq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TTT>CTT		taste receptor T2R4							242.0	217.0	225.0					7																	141478538		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478538T>C	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.250T>C	7.37:g.141478538T>C	ENSP00000247881:p.Phe84Leu						p.F84L	NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	250	+	Melanoma(164;0.0171)		84			Helical; Name=3; (Potential).		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.250T>C	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	T	7.103	0.574468	0.13623	.	.	ENSG00000127364	ENST00000247881	T	0.00627	6.12	5.41	2.93	0.34026	.	0.326200	0.30193	N	0.010184	T	0.00695	0.0023	L	0.38175	1.15	0.09310	N	1	B	0.31485	0.325	B	0.35240	0.198	T	0.49041	-0.8980	10	0.30078	T	0.28	.	5.8457	0.18665	0.1581:0.0865:0.0:0.7554	.	84	Q9NYW5	TA2R4_HUMAN	L	84	ENSP00000247881:F84L	ENSP00000247881:F84L	F	+	1	0	TAS2R4	141125007	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.590000	0.23954	1.077000	0.40990	0.519000	0.50382	TTT		PASS	0.428	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			118	233	118	233	---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148910796	148910796	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:148910796C>G	ENST00000262085.3	+	7	1175	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	ZNF282_ENST00000479907.1_Missense_Mutation_p.S357C	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	357					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S357C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACAACAGAGTCTCTCATCTCA	0.498																																						uc003wfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)TCT>TGT		zinc finger protein 282							84.0	66.0	72.0					7																	148910796		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148910796C>G	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1070C>G	7.37:g.148910796C>G	ENSP00000262085:p.Ser357Cys					ZNF282_uc011kun.1_Missense_Mutation_p.S357C|ZNF282_uc003wfn.2_Missense_Mutation_p.S297C|ZNF282_uc003wfo.2_Intron	p.S357C	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	7	1175	+	Melanoma(164;0.15)		357					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1070C>G	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653458	0.67472	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.07327	3.2;5.0	5.05	5.05	0.67936	.	0.000000	0.48767	D	0.000173	T	0.22627	0.0546	M	0.65975	2.015	0.39623	D	0.97006	D;D;D	0.69078	0.977;0.997;0.997	P;P;P	0.59012	0.625;0.85;0.85	T	0.00548	-1.1677	10	0.56958	D	0.05	-5.6249	14.2943	0.66302	0.0:1.0:0.0:0.0	.	357;329;357	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	C	357	ENSP00000262085:S357C;ENSP00000418840:S357C	ENSP00000262085:S357C	S	+	2	0	ZNF282	148541729	0.940000	0.31905	1.000000	0.80357	0.993000	0.82548	2.737000	0.47393	2.503000	0.84419	0.591000	0.81541	TCT		PASS	0.498	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		19	29	19	29	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149486368	149486368	+	RNA	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:149486368G>A	ENST00000378016.2	+	0	4344							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGATGAGCCGAGCTATCCGT	0.687																																						uc010lpk.2																			0					0						c.(4342-4344)CCG>CCA		SCO-spondin precursor							24.0	28.0	27.0					7																	149486368		2198	4293	6491			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486368G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486368G>A							p.P1448P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		30	4344	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1448			LDL-receptor class A 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.4344G>A																																																																																					PASS	0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	28	12	28	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150324861	150324861	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:150324861G>T	ENST00000328902.5	-	3	1041	c.825C>A	c.(823-825)atC>atA	p.I275I	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	275						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.I275I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTCCTTCTGGATCTGGGACA	0.567																																						uc003whn.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(823-825)ATC>ATA		GTPase, IMAP family member 6							93.0	78.0	83.0					7																	150324861		2203	4300	6503	SO:0001819	synonymous_variant	474344						GTP binding	g.chr7:150324861G>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.825C>A	7.37:g.150324861G>T						GIMAP6_uc003whm.2_Silent_p.I195I	p.I275I	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1249	-			275					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	c.825C>A	CCDS34778.1																																																																																				PASS	0.567	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		100	90	100	90	---	---	---	---
GIMAP2	26157	broad.mit.edu	37	7	150389460	150389460	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:150389460G>A	ENST00000223293.5	+	3	180	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	29	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.G29D(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTGGTGGGCAAAACAGGA	0.507																																						uc003who.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(85-87)GGC>GAC		GTPase, IMAP family member 2							67.0	56.0	60.0					7																	150389460		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389460G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.86G>A	7.37:g.150389460G>A	ENSP00000223293:p.Gly29Asp					GIMAP1_uc003whp.2_Intron	p.G29D	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	174	+			29			GTP (Potential).		Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.86G>A	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954003	0.73902	.	.	ENSG00000106560	ENST00000223293	D	0.98207	-4.79	3.86	3.86	0.44501	AIG1 (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	.	11.4752	0.50293	0.0:0.0:1.0:0.0	.	29	Q9UG22	GIMA2_HUMAN	D	29	ENSP00000223293:G29D	ENSP00000223293:G29D	G	+	2	0	GIMAP2	150020393	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	7.023000	0.76437	2.173000	0.68751	0.655000	0.94253	GGC		PASS	0.507	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		13	78	13	78	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152009027	152009027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr7:152009027G>A	ENST00000262189.6	-	5	813	c.595C>T	c.(595-597)Cga>Tga	p.R199*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R199*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	199					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R199*(2)									TGAGGAGATCGTTCTCTGAAA	0.348																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(595-597)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							81.0	80.0	80.0					7																	152009027		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:152009027G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.595C>T	7.37:g.152009027G>A	ENSP00000262189:p.Arg199*						p.R199*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	5	814	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	199					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.595C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	38	7.267330	0.98175	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.61	4.67	0.58626	.	0.197931	0.24267	N	0.040024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.7717	0.51962	0.0:0.0:0.6917:0.3083	.	.	.	.	X	199	.	ENSP00000262189:R199X	R	-	1	2	MLL3	151639960	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.666000	0.46799	2.820000	0.97059	0.650000	0.86243	CGA		PASS	0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			41	144	41	144	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820851	2820851	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:2820851C>A	ENST00000520002.1	-	61	9905	c.9350G>T	c.(9349-9351)gGc>gTc	p.G3117V	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2940V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3116V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2940V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3117V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2939V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3117	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G3116V(1)|p.G2845V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATGCTGGAGCCCCAGCGGAA	0.562																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(9349-9351)GGC>GTC		CUB and Sushi multiple domains 1 precursor							128.0	136.0	133.0					8																	2820851		1964	4157	6121	SO:0001583	missense	64478					integral to membrane		g.chr8:2820851C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9350G>T	8.37:g.2820851C>A	ENSP00000430733:p.Gly3117Val					CSMD1_uc011kwj.1_Missense_Mutation_p.G2446V|CSMD1_uc010lrg.2_Missense_Mutation_p.G1008V	p.G3117V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	60	9740	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3117			Sushi 25.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9350G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.332681	0.95733	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.93	5.93	0.95920	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94255	0.7497	10	0.87932	D	0	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	3117;3117;2939	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	V	2940;3117;2978;3116;2939	ENSP00000383047:G2940V;ENSP00000430733:G3117V;ENSP00000441462:G3116V;ENSP00000446243:G2939V	ENSP00000320445:G2978V	G	-	2	0	CSMD1	2808258	1.000000	0.71417	0.979000	0.43373	0.972000	0.66771	7.642000	0.83385	2.797000	0.96272	0.655000	0.94253	GGC		PASS	0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		57	147	57	147	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3263612	3263612	+	Missense_Mutation	SNP	A	A	T	rs115440730	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:3263612A>T	ENST00000520002.1	-	16	2761	c.2206T>A	c.(2206-2208)Tcc>Acc	p.S736T	CSMD1_ENST00000539096.1_Missense_Mutation_p.S735T|CSMD1_ENST00000602723.1_Missense_Mutation_p.S736T|CSMD1_ENST00000537824.1_Missense_Mutation_p.S735T|CSMD1_ENST00000400186.3_Missense_Mutation_p.S736T|CSMD1_ENST00000602557.1_Missense_Mutation_p.S736T|CSMD1_ENST00000542608.1_Missense_Mutation_p.S735T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	736	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S735T(1)|p.S464T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGTAATGGACTCGGATCCC	0.552																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2206-2208)TCC>ACC		CUB and Sushi multiple domains 1 precursor							64.0	64.0	64.0					8																	3263612		1962	4165	6127	SO:0001583	missense	64478					integral to membrane		g.chr8:3263612A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2206T>A	8.37:g.3263612A>T	ENSP00000430733:p.Ser736Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.S128T	p.S736T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	15	2596	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	736			Sushi 4.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2206T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.311|3.311	-0.140803|-0.140803	0.06669|0.06669	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Complement control module (2);Sushi/SCR/CCP (3);|.	0.166656|.	0.42821|.	D|.	0.000647|.	T|T	0.36717|0.36717	0.0977|0.0977	N|N	0.17248|0.17248	0.465|0.465	0.34123|0.34123	D|D	0.664394|0.664394	D;B|.	0.57899|.	0.981;0.0|.	D;B|.	0.77004|.	0.989;0.002|.	T|T	0.50709|0.50709	-0.8796|-0.8796	10|5	0.02654|.	T|.	1|.	.|.	11.3062|11.3062	0.49336|0.49336	0.8637:0.0:0.0:0.1363|0.8637:0.0:0.0:0.1363	.|.	736;736|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	T|D	736;736;598;735;735;735|215	ENSP00000383047:S736T;ENSP00000430733:S736T;ENSP00000441462:S735T;ENSP00000446243:S735T;ENSP00000441675:S735T|.	ENSP00000320445:S598T|.	S|V	-|-	1|2	0|0	CSMD1|CSMD1	3251019|3251019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	1.138000|1.138000	0.31491|0.31491	2.049000|2.049000	0.60858|0.60858	0.533000|0.533000	0.62120|0.62120	TCC|GTC		PASS	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	56	6	56	---	---	---	---
DEFB136	613210	broad.mit.edu	37	8	11832058	11832058	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:11832058A>G	ENST00000382209.2	-	1	50	c.51T>C	c.(49-51)ccT>ccC	p.P17P		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	17					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.P17P(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TCTTACCTGAAGGCAGTAAGA	0.483																																						uc011kxm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)CCT>CCC		beta-defensin 136 precursor							148.0	149.0	149.0					8																	11832058		1954	4151	6105	SO:0001819	synonymous_variant	613210				defense response to bacterium	extracellular region		g.chr8:11832058A>G	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.51T>C	8.37:g.11832058A>G							p.P17P	NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)	1	51	-			17					Q4QY36	Silent	SNP	ENST00000382209.2	37	c.51T>C	CCDS43709.1																																																																																				PASS	0.483	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018		41	220	41	220	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957578	12957578	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:12957578G>T	ENST00000276297.4	-	9	2677	c.2268C>A	c.(2266-2268)ccC>ccA	p.P756P	DLC1_ENST00000520226.1_Silent_p.P245P|DLC1_ENST00000512044.2_Silent_p.P353P|DLC1_ENST00000358919.2_Silent_p.P319P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	756	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.P756P(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TAACAGGGCTGGGCGTGCTGA	0.582																																						uc003wwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2266-2268)CCC>CCA		deleted in liver cancer 1 isoform 1							56.0	49.0	51.0					8																	12957578		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957578G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2268C>A	8.37:g.12957578G>T						DLC1_uc003wwk.1_Silent_p.P319P|DLC1_uc003wwl.1_Silent_p.P353P|DLC1_uc011kxx.1_Silent_p.P245P	p.P756P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2712	-			756					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2268C>A	CCDS5989.1																																																																																				PASS	0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	59	4	59	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927357	29927357	+	Silent	SNP	C	C	A	rs190031427		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:29927357C>A	ENST00000256255.6	-	3	758	c.501G>T	c.(499-501)tcG>tcT	p.S167S	TMEM66_ENST00000536273.1_5'UTR|TMEM66_ENST00000545648.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		167					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.S167S(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AGGAATCCGCCGAGGACCACT	0.438																																						uc003xhs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)TCG>TCT		transmembrane protein 66 precursor							77.0	79.0	78.0					8																	29927357		2203	4300	6503	SO:0001819	synonymous_variant	51669					integral to membrane		g.chr8:29927357C>A																												ENST00000256255.6:c.501G>T	8.37:g.29927357C>A						TMEM66_uc003xht.2_Silent_p.S167S|TMEM66_uc003xhu.2_Silent_p.S131S|TMEM66_uc003xhv.2_5'UTR	p.S167S	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	685	-			167					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Silent	SNP	ENST00000256255.6	37	c.501G>T	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.393|0.393	-0.922681|-0.922681	0.02396|0.02396	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265	.|.	.|.	.|.	5.69|5.69	-6.59|-6.59	0.01830|0.01830	.|.	.|.	.|.	.|.	.|.	T|T	0.48021|0.48021	0.1477|0.1477	.|.	.|.	.|.	0.46521|0.46521	D|D	0.999082|0.999082	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50709|0.50709	-0.8796|-0.8796	4|4	.|.	.|.	.|.	-22.2079|-22.2079	7.9466|7.9466	0.29991|0.29991	0.2833:0.4003:0.3164:0.0|0.2833:0.4003:0.3164:0.0	.|.	.|.	.|.	.|.	C|L	37|167	.|.	.|.	G|R	-|-	1|2	0|0	TMEM66|TMEM66	30046899|30046899	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.158000|0.158000	0.22134|0.22134	-1.209000|-1.209000	0.03002|0.03002	-1.385000|-1.385000	0.02101|0.02101	-1.080000|-1.080000	0.02220|0.02220	GGC|CGG		PASS	0.438	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			13	108	13	108	---	---	---	---
PROSC	11212	broad.mit.edu	37	8	37623233	37623233	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:37623233A>C	ENST00000328195.3	+	3	279	c.212A>C	c.(211-213)cAg>cCg	p.Q71P		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	71					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)	p.Q71P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TTTTAGGTTCAGGAACTGCTA	0.393																																						uc003xkh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(211-213)CAG>CCG		proline synthetase co-transcribed homolog	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						205.0	213.0	211.0					8																	37623233		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37623233A>C	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.212A>C	8.37:g.37623233A>C	ENSP00000333551:p.Gln71Pro						p.Q71P	NM_007198	NP_009129	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		3	289	+		Lung NSC(58;0.174)	71					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.212A>C	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.641551	0.87859	.	.	ENSG00000147471	ENST00000328195;ENST00000523358;ENST00000523187	T;T;T	0.55760	0.5;0.5;0.5	5.74	5.74	0.90152	Alanine racemase, N-terminal (1);	0.118100	0.56097	D	0.000023	T	0.71787	0.3381	M	0.85462	2.755	0.80722	D	1	P	0.42757	0.789	P	0.54312	0.748	T	0.75786	-0.3195	10	0.62326	D	0.03	-8.3039	15.7114	0.77631	1.0:0.0:0.0:0.0	.	71	O94903	PROSC_HUMAN	P	71;71;19	ENSP00000333551:Q71P;ENSP00000427778:Q71P;ENSP00000427886:Q19P	ENSP00000333551:Q71P	Q	+	2	0	PROSC	37742391	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	8.487000	0.90454	2.193000	0.70182	0.533000	0.62120	CAG		PASS	0.393	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		84	313	84	313	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52732955	52732955	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:52732955G>T	ENST00000360540.5	-	7	1436	c.1030C>A	c.(1030-1032)Cct>Act	p.P344T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.P344T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P268T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	344						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.P344T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAAGATTCAGGGAGGGGCAGC	0.358																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)CCT>ACT		protein-L-isoaspartate (D-aspartate)							65.0	63.0	64.0					8																	52732955		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732955G>T		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1030C>A	8.37:g.52732955G>T	ENSP00000353739:p.Pro344Thr					PCMTD1_uc011ldm.1_Missense_Mutation_p.P214T|PCMTD1_uc003xqw.3_Missense_Mutation_p.P344T|PCMTD1_uc011ldn.1_Missense_Mutation_p.P156T|PCMTD1_uc010lya.2_Missense_Mutation_p.P268T	p.P344T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1371	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	344					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.1030C>A	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685624	0.88639	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.25;-0.57;0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.91635	0.814;0.999;0.974	D	0.85296	0.1070	10	0.87932	D	0	-11.5754	20.6593	0.99626	0.0:0.0:1.0:0.0	.	214;268;344	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	344;268;344	ENSP00000353739:P344T;ENSP00000444026:P268T;ENSP00000428099:P344T	ENSP00000353739:P344T	P	-	1	0	PCMTD1	52895508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.358	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	150	4	150	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87656009	87656009	+	Missense_Mutation	SNP	G	G	T	rs397515360		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:87656009G>T	ENST00000320005.5	-	10	1195	c.1148C>A	c.(1147-1149)aCt>aAt	p.T383N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	383					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.T383N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CACCCATCTAGTAGTGCCAAT	0.343																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3	GRCh37	CD001927	CNGB3	D		c.(1147-1149)ACT>AAT		cyclic nucleotide gated channel beta 3							138.0	130.0	133.0					8																	87656009		2203	4299	6502	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656009G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1148C>A	8.37:g.87656009G>T	ENSP00000316605:p.Thr383Asn					CNGB3_uc010maj.2_Missense_Mutation_p.T245N	p.T383N	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			10	1194	-			383			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1148C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013728	0.54468	.	.	ENSG00000170289	ENST00000320005	D	0.96992	-4.2	5.44	5.44	0.79542	.	0.059392	0.64402	D	0.000004	D	0.95987	0.8693	L	0.48877	1.53	0.58432	D	0.999995	P;P	0.43701	0.815;0.756	P;P	0.48704	0.551;0.587	D	0.95080	0.8212	10	0.37606	T	0.19	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	383;383	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	N	383	ENSP00000316605:T383N	ENSP00000316605:T383N	T	-	2	0	CNGB3	87725125	1.000000	0.71417	0.086000	0.20670	0.967000	0.64934	6.043000	0.71004	2.703000	0.92315	0.655000	0.94253	ACT		PASS	0.343	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		39	236	39	236	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89179936	89179936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:89179936G>T	ENST00000286614.6	-	4	952	c.671C>A	c.(670-672)tCa>tAa	p.S224*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	224					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGGCTCATCTGAGTCAAAATG	0.413																																						uc003yeb.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(670-672)TCA>TAA		matrix metalloproteinase 16 isoform 1							95.0	82.0	87.0					8																	89179936		2203	4300	6503	SO:0001587	stop_gained	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89179936G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.671C>A	8.37:g.89179936G>T	ENSP00000286614:p.Ser224*					MMP16_uc003yec.2_Nonsense_Mutation_p.S224*	p.S224*	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	953	-			224			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	c.671C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	37	6.416233	0.97550	.	.	ENSG00000156103	ENST00000286614	.	.	.	5.54	4.66	0.58398	.	0.061031	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.7805	0.69764	0.0705:0.0:0.9295:0.0	.	.	.	.	X	224	.	ENSP00000286614:S224X	S	-	2	0	MMP16	89249052	1.000000	0.71417	0.853000	0.33588	0.996000	0.88848	7.929000	0.87595	1.308000	0.44962	0.650000	0.86243	TCA		PASS	0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		61	88	61	88	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100836079	100836079	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:100836079C>T	ENST00000358544.2	+	51	9389	c.9278C>T	c.(9277-9279)tCc>tTc	p.S3093F	VPS13B_ENST00000357162.2_Missense_Mutation_p.S3068F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3093					protein transport (GO:0015031)			p.S3068F(1)|p.S3093F(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGCATTTCCTCCATGGTA	0.289																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9277-9279)TCC>TTC		vacuolar protein sorting 13B isoform 5							163.0	166.0	165.0					8																	100836079		2202	4300	6502	SO:0001583	missense	157680				protein transport			g.chr8:100836079C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9278C>T	8.37:g.100836079C>T	ENSP00000351346:p.Ser3093Phe					VPS13B_uc003yiw.2_Missense_Mutation_p.S3068F	p.S3093F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		51	9389	+	Breast(36;3.73e-07)		3093					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9278C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546558	0.86022	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.81908	-1.55;-1.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.979;0.996	D	0.88787	0.3275	10	0.87932	D	0	.	19.5232	0.95194	0.0:1.0:0.0:0.0	.	3068;3093	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	3068;3093	ENSP00000349685:S3068F;ENSP00000351346:S3093F	ENSP00000349685:S3068F	S	+	2	0	VPS13B	100905255	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.873000	0.69644	2.677000	0.91161	0.655000	0.94253	TCC		PASS	0.289	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	415	14	415	---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103251071	103251071	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:103251071C>G	ENST00000251810.3	-	1	275	c.32G>C	c.(31-33)gGg>gCg	p.G11A	KB-431C1.4_ENST00000520820.1_RNA|RRM2B_ENST00000519962.1_Missense_Mutation_p.G11A|RRM2B_ENST00000519317.1_Missense_Mutation_p.G11A|RRM2B_ENST00000395912.2_Missense_Mutation_p.G11A	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	11					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.G11A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	CTGATCCAGCCCGGCCGCTTC	0.617								Modulation of nucleotide pools																														uc003ykn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(31-33)GGG>GCG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							50.0	50.0	50.0					8																	103251071		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103251071C>G	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.32G>C	8.37:g.103251071C>G	ENSP00000251810:p.Gly11Ala					RRM2B_uc003yko.2_5'Flank|RRM2B_uc010mbv.1_Missense_Mutation_p.G11A|RRM2B_uc010mbw.1_Missense_Mutation_p.G11A|RRM2B_uc010mbx.1_RNA|RRM2B_uc010mby.1_RNA	p.G11A	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		1	276	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		11					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.32G>C	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038465	0.55003	.	.	ENSG00000048392	ENST00000251810;ENST00000519962;ENST00000519317;ENST00000395912;ENST00000522394	D;T;D;D;D	0.97186	-4.28;-1.06;-2.76;-4.18;-1.78	3.47	2.6	0.31112	.	0.994630	0.08154	N	0.989524	D	0.91047	0.7183	N	0.14661	0.345	0.20975	N	0.999811	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14023	0.01;0.001;0.002	T	0.81994	-0.0677	10	0.10377	T	0.69	.	6.65	0.22957	0.0:0.8709:0.0:0.1291	.	11;11;11	Q7LG56-3;Q7LG56-2;Q7LG56	.;.;RIR2B_HUMAN	A	11	ENSP00000251810:G11A;ENSP00000429140:G11A;ENSP00000430641:G11A;ENSP00000379248:G11A;ENSP00000429578:G11A	ENSP00000251810:G11A	G	-	2	0	RRM2B	103320247	0.337000	0.24766	0.508000	0.27688	0.613000	0.37349	0.511000	0.22739	1.022000	0.39626	0.511000	0.50034	GGG		PASS	0.617	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			40	44	40	44	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105105769	105105769	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:105105769G>T	ENST00000436393.2	+	21	3033	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGATGTAAGTGATATATCT	0.428										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2791-2793)AGT>ATT		regulating synaptic membrane exocytosis 2							188.0	175.0	179.0					8																	105105769		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105105769G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2792G>T	8.37:g.105105769G>T	ENSP00000390665:p.Ser931Ile	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1004I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.S931I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3033	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2792G>T		.	.	.	.	.	.	.	.	.	.	G	25.3	4.626998	0.87560	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.27890	1.64;2.06	5.85	5.85	0.93711	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.51701	0.677	T	0.25328	-1.0135	8	0.44086	T	0.13	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	931	D6RA03	.	I	1004;931	ENSP00000386228:S1004I;ENSP00000390665:S931I	ENSP00000386228:S1004I	S	+	2	0	RIMS2	105174945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.769000	0.95229	0.491000	0.48974	AGT		PASS	0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		26	264	26	264	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109241403	109241403	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:109241403C>T	ENST00000220849.5	-	6	555	c.493G>A	c.(493-495)Gct>Act	p.A165T	EIF3E_ENST00000519517.1_5'UTR|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Missense_Mutation_p.A72T	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.A165T(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GAACTTAAAGCATTTCTATCT	0.348																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(493-495)GCT>ACT		eukaryotic translation initiation factor 3,							72.0	70.0	71.0					8																	109241403		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241403C>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.493G>A	8.37:g.109241403C>T	ENSP00000220849:p.Ala165Thr					EIF3E_uc003ymt.2_Missense_Mutation_p.A116T|EIF3E_uc003ymv.2_Missense_Mutation_p.A72T|EIF3E_uc010mci.1_Missense_Mutation_p.A165T	p.A165T	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	521	-			165			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.493G>A	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	c	17.91	3.504426	0.64410	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.42900	0.96;0.98;0.97	5.31	5.31	0.75309	.	0.048810	0.85682	D	0.000000	T	0.37156	0.0993	L	0.42245	1.32	0.80722	D	1	P;P	0.37423	0.483;0.594	B;B	0.33454	0.084;0.164	T	0.12604	-1.0541	9	.	.	.	-16.4329	19.3576	0.94421	0.0:1.0:0.0:0.0	.	165;165	B2R806;P60228	.;EIF3E_HUMAN	T	165;72;38	ENSP00000220849:A165T;ENSP00000428796:A72T;ENSP00000430839:A38T	.	A	-	1	0	EIF3E	109310579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.615000	0.83006	2.644000	0.89710	0.580000	0.79431	GCT		PASS	0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		71	83	71	83	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113662392	113662392	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:113662392T>A	ENST00000297405.5	-	19	3435	c.3191A>T	c.(3190-3192)gAt>gTt	p.D1064V	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1064V|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1024V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D960V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1064	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1024V(1)|p.D1064V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTATTACCATCACAGGTTGG	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3190-3192)GAT>GTT		CUB and Sushi multiple domains 3 isoform 1							91.0	90.0	90.0					8																	113662392		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113662392T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3191A>T	8.37:g.113662392T>A	ENSP00000297405:p.Asp1064Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D336V|CSMD3_uc003ynt.2_Missense_Mutation_p.D1024V|CSMD3_uc011lhx.1_Missense_Mutation_p.D960V	p.D1064V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			19	3350	-			1064			Extracellular (Potential).|Sushi 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3191A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124434	0.37533	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.88	4.73	0.59995	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	N	0.21240	0.645	0.58432	D	0.999999	D;D;P	0.59767	0.986;0.975;0.949	D;P;P	0.63283	0.913;0.821;0.848	T	0.02226	-1.1192	10	0.27785	T	0.31	.	11.8306	0.52293	0.0:0.0681:0.0:0.9319	.	960;1064;1024	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1024;1064;404;960;1064	ENSP00000345799:D1024V;ENSP00000297405:D1064V;ENSP00000341558:D404V;ENSP00000412263:D960V;ENSP00000343124:D1064V	ENSP00000297405:D1064V	D	-	2	0	CSMD3	113731568	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.997000	0.88414	1.061000	0.40601	-0.250000	0.11733	GAT		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		75	95	75	95	---	---	---	---
WDYHV1	55093	broad.mit.edu	37	8	124440252	124440252	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:124440252G>C	ENST00000287387.2	+	2	297	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_5'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.E58Q|WDYHV1_ENST00000518125.1_5'Flank	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	58					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)	p.E58Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CATATCTAATGAGAGGAAGAT	0.303																																						uc003yqn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(172-174)GAG>CAG		WDYHV motif containing 1							118.0	133.0	128.0					8																	124440252		2203	4299	6502	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124440252G>C	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.172G>C	8.37:g.124440252G>C	ENSP00000287387:p.Glu58Gln					WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank	p.E58Q	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			2	297	+			58					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.172G>C	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214663	0.79352	.	.	ENSG00000156795	ENST00000287387;ENST00000522194;ENST00000523356	T;T;T	0.21734	1.99;1.99;1.99	5.44	5.44	0.79542	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.333726	0.35124	N	0.003422	T	0.25344	0.0616	L	0.61036	1.89	0.80722	D	1	P	0.38223	0.623	B	0.35312	0.2	T	0.02484	-1.1152	10	0.33141	T	0.24	-23.841	18.0395	0.89315	0.0:0.0:1.0:0.0	.	58	Q96HA8	NTAQ1_HUMAN	Q	58	ENSP00000287387:E58Q;ENSP00000434252:E58Q;ENSP00000428615:E58Q	ENSP00000287387:E58Q	E	+	1	0	WDYHV1	124509433	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.222000	0.89777	2.549000	0.85964	0.585000	0.79938	GAG		PASS	0.303	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		45	288	45	288	---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126011677	126011677	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:126011677C>A	ENST00000265896.5	+	1	930	c.32C>A	c.(31-33)aCc>aAc	p.T11N	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	11					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.T11N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCCACTTTCACCTATTTTTAT	0.522																																						uc011liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(31-33)ACC>AAC		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						61.0	62.0	61.0					8																	126011677		1935	4142	6077	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011677C>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.32C>A	8.37:g.126011677C>A	ENSP00000265896:p.Thr11Asn						p.T11N	NM_003129	NP_003120	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	958	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		11					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.32C>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363169	0.82353	.	.	ENSG00000104549	ENST00000265896	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.53005	D	0.999969	D	0.71674	0.998	D	0.63703	0.917	T	0.71444	-0.4591	9	0.72032	D	0.01	-12.9755	9.9371	0.41559	0.0:0.8679:0.0:0.1321	.	11	Q14534	ERG1_HUMAN	N	11	.	ENSP00000265896:T11N	T	+	2	0	SQLE	126080858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.671000	0.68095	2.298000	0.77334	0.561000	0.74099	ACC		PASS	0.522	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		22	32	22	32	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131792917	131792917	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:131792917T>C	ENST00000286355.5	-	18	5567	c.3475A>G	c.(3475-3477)Agt>Ggt	p.S1159G	ADCY8_ENST00000377928.3_Missense_Mutation_p.S1028G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1159					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.S1159G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCTGTTCACTGATACCCTTC	0.507										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3475-3477)AGT>GGT		adenylate cyclase 8							180.0	186.0	184.0					8																	131792917		2203	4300	6503	SO:0001583	missense	114				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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792917T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3475A>G	8.37:g.131792917T>C	ENSP00000286355:p.Ser1159Gly	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.S1028G	p.S1159G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3731	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1159			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3475A>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738807	0.89573	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.26660	1.72;1.72	5.79	5.79	0.91817	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.31207	0.915	0.42620	D	0.99334	D;D	0.76494	0.989;0.999	D;D	0.79108	0.951;0.992	T	0.30880	-0.9963	10	0.72032	D	0.01	.	15.3114	0.74035	0.0:0.0:0.0:1.0	.	1028;1159	E7EVL1;P40145	.;ADCY8_HUMAN	G	1159;1028	ENSP00000286355:S1159G;ENSP00000367161:S1028G	ENSP00000286355:S1159G	S	-	1	0	ADCY8	131862099	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.218000	0.71995	0.533000	0.62120	AGT		PASS	0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			18	244	18	244	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131949360	131949360	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr8:131949360G>T	ENST00000286355.5	-	5	3532	c.1440C>A	c.(1438-1440)caC>caA	p.H480Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.H480Q|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	480					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.H480Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAACACAGCAGTGGGCATGGT	0.517										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1438-1440)CAC>CAA		adenylate cyclase 8							128.0	115.0	119.0					8																	131949360		2203	4300	6503	SO:0001583	missense	114				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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131949360G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1440C>A	8.37:g.131949360G>T	ENSP00000286355:p.His480Gln	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.H480Q	p.H480Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		5	1696	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		480			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1440C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557668	0.65425	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80123	-1.34;-1.34;-1.34	5.61	4.72	0.59763	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.050639	0.85682	D	0.000000	T	0.77465	0.4134	N	0.17379	0.485	0.37954	D	0.932753	D;D	0.71674	0.973;0.998	P;D	0.64237	0.702;0.923	T	0.76503	-0.2935	10	0.27082	T	0.32	.	9.075	0.36515	0.1663:0.0:0.8337:0.0	.	480;480	E7EVL1;P40145	.;ADCY8_HUMAN	Q	480;480;95	ENSP00000286355:H480Q;ENSP00000367161:H480Q;ENSP00000428010:H95Q	ENSP00000286355:H480Q	H	-	3	2	ADCY8	132018542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.225000	0.58600	1.359000	0.45940	0.655000	0.94253	CAC		PASS	0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			58	86	58	86	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						uc003zjr.2																			4	Substitution - Missense(4)		lung(2)|endometrium(1)|kidney(1)	ovary(3)	3						c.(2950-2952)ATA>CTA		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu					RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	p.I984L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2961	-		Acute lymphoblastic leukemia(23;0.158)	984			HEAT 7.		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		PASS	0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		3	130	3	130	---	---	---	---
CER1	9350	broad.mit.edu	37	9	14720297	14720297	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:14720297C>T	ENST00000380911.3	-	2	639	c.595G>A	c.(595-597)Gcg>Acg	p.A199T		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	199	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.A199T(2)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAGTGCTGCGCGGCTCCAGGA	0.488																																						uc003zlj.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(595-597)GCG>ACG		cerberus 1 precursor							108.0	90.0	96.0					9																	14720297		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720297C>T	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.595G>A	9.37:g.14720297C>T	ENSP00000370297:p.Ala199Thr						p.A199T	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	640	-			199			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.595G>A	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	C	3.777	-0.046453	0.07407	.	.	ENSG00000147869	ENST00000380911	T	0.29917	1.55	5.52	3.58	0.41010	DAN (1);Cystine knot, C-terminal (2);	0.999489	0.08096	N	0.998638	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B	0.25169	0.119	B	0.18561	0.022	T	0.23655	-1.0182	10	0.15499	T	0.54	-0.548	6.8321	0.23915	0.1297:0.6744:0.1257:0.0701	.	199	O95813	CER1_HUMAN	T	199	ENSP00000370297:A199T	ENSP00000370297:A199T	A	-	1	0	CER1	14710297	0.000000	0.05858	0.092000	0.20876	0.224000	0.24922	0.717000	0.25851	1.480000	0.48289	0.655000	0.94253	GCG		PASS	0.488	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		21	59	21	59	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109687239	109687239	+	Missense_Mutation	SNP	A	A	C	rs202198471		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:109687239A>C	ENST00000277225.5	+	3	1335	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	ZNF462_ENST00000457913.1_Missense_Mutation_p.K349T|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	349					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K349T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGAAGCCGAAGTCACCTCAC	0.478																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1045-1047)AAG>ACG		zinc finger protein 462							74.0	69.0	71.0					9																	109687239		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687239A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1046A>C	9.37:g.109687239A>C	ENSP00000277225:p.Lys349Thr					ZNF462_uc010mto.2_Missense_Mutation_p.K197T|ZNF462_uc004bda.2_Missense_Mutation_p.K197T	p.K349T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1335	+			349					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1046A>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463994	0.43736	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06068	3.35;3.79	5.91	5.91	0.95273	.	0.095896	0.64402	D	0.000001	T	0.10423	0.0255	L	0.27053	0.805	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.53861	0.736;0.549	T	0.29488	-1.0010	9	.	.	.	.	14.9223	0.70847	1.0:0.0:0.0:0.0	.	349;349	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	349	ENSP00000277225:K349T;ENSP00000414570:K349T	.	K	+	2	0	ZNF462	108727060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.808000	0.55598	2.266000	0.75297	0.533000	0.62120	AAG		PASS	0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		16	44	16	44	---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617377	111617377	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:111617377G>A	ENST00000374667.3	-	1	1862	c.834C>T	c.(832-834)cgC>cgT	p.R278R		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	278						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R278R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGTAGTCCACGCGCAGCTCCT	0.627																																						uc004bdi.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(832-834)CGC>CGT		actin-like 7B							45.0	49.0	47.0					9																	111617377		2203	4300	6503	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617377G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.834C>T	9.37:g.111617377G>A							p.R278R	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	899	-			278					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.834C>T	CCDS6771.1																																																																																				PASS	0.627	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		17	45	17	45	---	---	---	---
SLC31A2	1318	broad.mit.edu	37	9	115925107	115925107	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:115925107A>G	ENST00000259392.3	+	4	475	c.342A>G	c.(340-342)gtA>gtG	p.V114V		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	114					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)	p.V114V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	TGCTGGCCGTAATGTCCTACA	0.493																																						uc004bgq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(340-342)GTA>GTG		solute carrier family 31 (copper transporters),							285.0	277.0	280.0					9																	115925107		2031	4188	6219	SO:0001819	synonymous_variant	1318					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:115925107A>G		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.342A>G	9.37:g.115925107A>G							p.V114V	NM_001860	NP_001851	O15432	COPT2_HUMAN			4	459	+			114			Helical; (Potential).			Silent	SNP	ENST00000259392.3	37	c.342A>G	CCDS6788.1																																																																																				PASS	0.493	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055509.2	NM_001860		64	156	64	156	---	---	---	---
KIF12	113220	broad.mit.edu	37	9	116854706	116854706	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:116854706G>T	ENST00000374118.3	-	15	1546	c.1309C>A	c.(1309-1311)Cga>Aga	p.R437R	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	570					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R437R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCAGGACTCGGGTCTGAGTC	0.612																																						uc004bif.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)CGA>AGA		kinesin family member 12							66.0	63.0	64.0					9																	116854706		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854706G>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1309C>A	9.37:g.116854706G>T						KIF12_uc004big.2_RNA	p.R437R	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			15	1547	-			570			Pro-rich.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.1309C>A	CCDS6801.1																																																																																				PASS	0.612	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		4	94	4	94	---	---	---	---
MEGF9	1955	broad.mit.edu	37	9	123367532	123367533	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr9:123367532_123367533CC>TG	ENST00000373930.3	-	6	1855_1856	c.1744_1745GG>CA	c.(1744-1746)GGc>CAc	p.G582H	MEGF9_ENST00000426959.1_Missense_Mutation_p.G619H	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	582						integral component of membrane (GO:0016021)		p.G619R(1)|p.G619H(1)|p.G619D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CACTTCATTGCCATCATCTTCC	0.47																																						uc004bkj.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1855-1857)GGC>GAC|c.(1855-1857)GGC>CGC		multiple EGF-like-domains 9																																				SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367532C>T|g.chr9:123367533C>G	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1744_1745delinsTG	9.37:g.123367532_123367533delinsTG	ENSP00000363040:p.Gly582His					MEGF9_uc011lyb.1_Missense_Mutation_p.G574D|MEGF9_uc011lyb.1_Missense_Mutation_p.G574R	p.G619D|p.G619R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			8	1856|1855	-			582			Cytoplasmic (Potential).		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1856G>A|c.1855G>C	CCDS48010.2																																																																																				PASS	0.470	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		55	129|134	55	129	---	---	---	---
CALML5	51806	broad.mit.edu	37	10	5541104	5541104	+	Missense_Mutation	SNP	C	C	A	rs147358772		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:5541104C>A	ENST00000380332.3	-	1	429	c.298G>T	c.(298-300)Gtg>Ttg	p.V100L		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	100	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V100L(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCTCGTCCACGGTGATGTGG	0.726																																					GBM(149;1055 3356 43077)	uc001iic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GTG>TTG		calmodulin-like 5							19.0	21.0	20.0					10																	5541104		2200	4292	6492	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5541104C>A	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.298G>T	10.37:g.5541104C>A	ENSP00000369689:p.Val100Leu						p.V100L	NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN			1	430	-			100			EF-hand 3.|3 (Potential).		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.298G>T	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707178	0.48412	.	.	ENSG00000178372	ENST00000380332	T	0.71341	-0.56	4.68	-0.592	0.11671	EF-hand-like domain (1);	0.855868	0.10035	N	0.724214	T	0.58524	0.2128	N	0.16656	0.425	0.38518	D	0.948657	P	0.49783	0.928	P	0.47430	0.547	T	0.57653	-0.7774	10	0.87932	D	0	-40.748	8.8633	0.35272	0.0:0.5961:0.0:0.4039	.	100	Q9NZT1	CALL5_HUMAN	L	100	ENSP00000369689:V100L	ENSP00000369689:V100L	V	-	1	0	CALML5	5531104	0.973000	0.33851	0.002000	0.10522	0.069000	0.16628	1.571000	0.36450	-0.207000	0.10187	-0.150000	0.13652	GTG		PASS	0.726	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		5	22	5	22	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15296787	15296787	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:15296787C>A	ENST00000378116.4	-	4	516	c.510G>T	c.(508-510)acG>acT	p.T170T		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	170						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T170T(3)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGCTGGCGGCCGTGAGAAACG	0.542																																						uc001iob.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(2)|breast(1)|skin(1)	4						c.(508-510)ACG>ACT		hypothetical protein LOC221061 precursor							64.0	61.0	62.0					10																	15296787		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15296787C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.510G>T	10.37:g.15296787C>A							p.T170T	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			4	517	-			170			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.510G>T	CCDS31154.1																																																																																				PASS	0.542	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		8	69	8	69	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15600085	15600085	+	Silent	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:15600085A>C	ENST00000378076.3	-	26	3107	c.2754T>G	c.(2752-2754)ccT>ccG	p.P918P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	918					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.P918P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTATTTTTGCAGGGCTCTGTC	0.453																																						uc001ioc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(2752-2754)CCT>CCG		integrin, alpha 8 precursor							104.0	100.0	101.0					10																	15600085		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15600085A>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2754T>G	10.37:g.15600085A>C						ITGA8_uc010qcb.1_Silent_p.P903P	p.P918P	NM_003638	NP_003629	P53708	ITA8_HUMAN			26	2754	-			918			Extracellular (Potential).		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2754T>G	CCDS31155.1																																																																																				PASS	0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		30	164	30	164	---	---	---	---
RSU1	6251	broad.mit.edu	37	10	16737123	16737123	+	Silent	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:16737123T>A	ENST00000377921.3	-	7	931	c.630A>T	c.(628-630)gtA>gtT	p.V210V	RSU1_ENST00000345264.5_Silent_p.V210V|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Silent_p.V157V			Q15404	RSU1_HUMAN	Ras suppressor protein 1	210					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.V210V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		CTGCTTTGAATACCTGCTTCT	0.463																																						uc001iok.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(628-630)GTA>GTT		ras suppressor protein 1 isoform 2							64.0	62.0	63.0					10																	16737123		2203	4300	6503	SO:0001819	synonymous_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16737123T>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.630A>T	10.37:g.16737123T>A						RSU1_uc001iol.2_Silent_p.V210V|RSU1_uc001iom.2_Silent_p.V157V	p.V210V	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	7	932	-			210					A8KA46|D3DRU3|Q6FI17	Silent	SNP	ENST00000377921.3	37	c.630A>T	CCDS7112.1																																																																																				PASS	0.463	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		33	52	33	52	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25840014	25840014	+	Splice_Site	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:25840014G>C	ENST00000376351.3	+	6	1873	c.1514G>C	c.(1513-1515)aGg>aCg	p.R505T		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R505T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAACTTCACAGGTATATACAT	0.408																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1513-1515)AGG>ACG		G protein-coupled receptor 158 precursor							198.0	173.0	182.0					10																	25840014		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25840014G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1514+1G>C	10.37:g.25840014G>C							p.R505T	NM_020752	NP_065803	Q5T848	GP158_HUMAN			6	1574	+			505			Helical; Name=3; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1514G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887540	0.91814	.	.	ENSG00000151025	ENST00000376351	D	0.90324	-2.65	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96726	0.9536	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	505	Q5T848	GP158_HUMAN	T	505	ENSP00000365529:R505T	ENSP00000365529:R505T	R	+	2	0	GPR158	25880020	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.093000	0.94163	2.724000	0.93272	0.650000	0.86243	AGG		PASS	0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	36	209	36	209	---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27507019	27507019	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:27507019T>C	ENST00000375888.1	-	7	810	c.746A>G	c.(745-747)cAg>cGg	p.Q249R	ACBD5_ENST00000396271.3_Missense_Mutation_p.Q240R|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q131R|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q205R			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	249					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.Q240R(1)|p.Q205R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGTCATTCTGTATATCCTG	0.388																																						uc010qdp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(718-720)CAG>CGG		acyl-Coenzyme A binding domain containing 5							207.0	192.0	197.0					10																	27507019		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27507019T>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.746A>G	10.37:g.27507019T>C	ENSP00000365049:p.Gln249Arg					ACBD5_uc010qdm.1_Missense_Mutation_p.Q238R|ACBD5_uc010qdn.1_Missense_Mutation_p.Q131R|ACBD5_uc010qdo.1_Intron|ACBD5_uc001ito.2_Missense_Mutation_p.Q205R|ACBD5_uc001itp.2_Missense_Mutation_p.Q131R|ACBD5_uc001itq.2_Missense_Mutation_p.Q131R|ACBD5_uc001itr.1_Missense_Mutation_p.Q29R	p.Q240R	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			7	910	-			249					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.719A>G		.	.	.	.	.	.	.	.	.	.	T	7.771	0.707406	0.15239	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375888;ENST00000426079;ENST00000412279	D;T;T;T;T;T	0.84070	-1.8;2.23;1.48;2.49;2.17;1.88	4.59	2.09	0.27110	.	0.609617	0.17434	N	0.174355	T	0.75635	0.3876	L	0.56769	1.78	0.25741	N	0.985165	P;P;P	0.44627	0.688;0.554;0.839	B;B;B	0.37387	0.248;0.118;0.159	T	0.63804	-0.6554	10	0.21540	T	0.41	-1.2649	10.9684	0.47426	0.0:0.0:0.312:0.688	.	240;238;249	Q5T8D3-3;B7Z2R7;Q5T8D3	.;.;ACBD5_HUMAN	R	246;240;205;131;249;258;216	ENSP00000379568:Q240R;ENSP00000365070:Q205R;ENSP00000365066:Q131R;ENSP00000365049:Q249R;ENSP00000401591:Q258R;ENSP00000393398:Q216R	ENSP00000365049:Q249R	Q	-	2	0	ACBD5	27547025	0.994000	0.37717	0.017000	0.16124	0.750000	0.42670	2.173000	0.42472	0.746000	0.32786	0.477000	0.44152	CAG		PASS	0.388	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		46	265	46	265	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38343954	38343954	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:38343954A>G	ENST00000458705.2	+	5	1057	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	ZNF33A_ENST00000432900.2_Missense_Mutation_p.Y307C|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.Y301C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Y300C			Q06730	ZN33A_HUMAN	zinc finger protein 33A	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y300C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATGAAACACTATGATTGTGGT	0.383																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(898-900)TAT>TGT		zinc finger protein 33A isoform b							82.0	82.0	82.0					10																	38343954		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343954A>G	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.899A>G	10.37:g.38343954A>G	ENSP00000387713:p.Tyr300Cys					ZNF33A_uc001izg.2_Missense_Mutation_p.Y301C|ZNF33A_uc010qev.1_Missense_Mutation_p.Y307C|ZNF33A_uc001izi.1_Intron	p.Y300C	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1077	+			300					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.899A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310620	0.23821	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	1.82	-3.1	0.05315	.	1.382140	0.05228	N	0.509780	T	0.60573	0.2279	M	0.91510	3.215	0.09310	N	1	D;D;B	0.76494	0.999;0.999;0.029	D;D;B	0.81914	0.995;0.989;0.011	T	0.54234	-0.8324	10	0.62326	D	0.03	.	2.3013	0.04162	0.3284:0.0:0.4065:0.2651	.	307;300;301	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	C	301;307;300;300	ENSP00000363747:Y301C;ENSP00000402467:Y307C;ENSP00000387713:Y300C;ENSP00000304268:Y300C	ENSP00000304268:Y300C	Y	+	2	0	ZNF33A	38383960	0.000000	0.05858	0.008000	0.14137	0.020000	0.10135	-0.394000	0.07296	-0.432000	0.07297	0.377000	0.23210	TAT		PASS	0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		36	174	36	174	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50723928	50723929	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:50723928_50723929GC>TT	ENST00000374127.3	-	2	1433_1434	c.1232_1233GC>AA	c.(1231-1233)tGC>tAA	p.C411*	ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.C879*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.C879*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.C411*|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.C879*	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	411								p.C411*(2)|p.C411Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATTCCATCTGCAGACAATATT	0.411																																						uc001jht.2																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	pancreas(1)|breast(1)|skin(1)	3						c.(1231-1233)TGC>TGA|c.(1231-1233)TGC>TAC		hypothetical protein LOC267004																																				SO:0001587	stop_gained	267004							g.chr10:50723928G>T|g.chr10:50723929C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1232_1233delinsTT	10.37:g.50723928_50723929delinsTT	ENSP00000363242:p.Cys411*					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Nonsense_Mutation_p.C879*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.C879*|ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.C879Y|PGBD3_uc001jhu.2_Missense_Mutation_p.C879Y	p.C411*|p.C411Y	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1488|1487	-			411					B3KQC4|Q5W0M0|Q6PIH0	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000374127.3	37	c.1233C>A|c.1232G>A	CCDS7230.1																																																																																				PASS	0.411	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			50|48	163|165	48	163	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50957775	50957775	+	Silent	SNP	G	G	A	rs35599320		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:50957775G>A	ENST00000374103.4	-	8	1069	c.984C>T	c.(982-984)gaC>gaT	p.D328D	OGDHL_ENST00000419399.1_Silent_p.D271D|OGDHL_ENST00000432695.1_Silent_p.D119D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	328					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.D328D(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACCCACCTCGTCCGCCGCCT	0.647																																						uc001jie.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(982-984)GAC>GAT		oxoglutarate dehydrogenase-like isoform a		G	,,	0,4404		0,0,2202	42.0	36.0	38.0		813,357,984	-9.8	0.1	10	dbSNP_126	38	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	271/954,119/802,328/1011	50957775	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50957775G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.984C>T	10.37:g.50957775G>A						OGDHL_uc009xog.2_Silent_p.D355D|OGDHL_uc010qgt.1_Silent_p.D271D|OGDHL_uc010qgu.1_Silent_p.D119D|OGDHL_uc009xoh.2_Silent_p.D119D	p.D328D	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			8	1126	-			328					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.984C>T	CCDS7234.1																																																																																				PASS	0.647	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		8	7	8	7	---	---	---	---
CCDC6	8030	broad.mit.edu	37	10	61574417	61574417	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:61574417C>T	ENST00000263102.6	-	4	910	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	227	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.E227K(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AACCGCTTTTCAGCTTCAAGC	0.443			T	RET	NSCLC																																	uc001jks.3				Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(679-681)GAA>AAA		coiled-coil domain containing 6							358.0	242.0	281.0					10																	61574417		2203	4299	6502	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61574417C>T	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.679G>A	10.37:g.61574417C>T	ENSP00000263102:p.Glu227Lys						p.E227K	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	4	1315	-			227			5.|5 X 29 AA tandem repeats.|Potential.		Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.679G>A	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.863108	0.97036	.	.	ENSG00000108091	ENST00000263102	D	0.93906	-3.31	5.83	5.83	0.93111	.	0.093661	0.64402	D	0.000001	D	0.96867	0.8977	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96858	0.9630	10	0.87932	D	0	-13.8509	20.1152	0.97926	0.0:1.0:0.0:0.0	.	227	Q16204	CCDC6_HUMAN	K	227	ENSP00000263102:E227K	ENSP00000263102:E227K	E	-	1	0	CCDC6	61244423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.750000	0.94351	0.655000	0.94253	GAA		PASS	0.443	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		30	101	30	101	---	---	---	---
DDIT4	54541	broad.mit.edu	37	10	74034470	74034470	+	Missense_Mutation	SNP	G	G	C	rs200501173		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:74034470G>C	ENST00000307365.3	+	3	424	c.223G>C	c.(223-225)Ggg>Cgg	p.G75R	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	75					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.G75R(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TTACCTGGATGGGGTGTCGTT	0.587																																						uc001jsx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(223-225)GGG>CGG		RTP801							130.0	126.0	127.0					10																	74034470		2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74034470G>C	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.223G>C	10.37:g.74034470G>C	ENSP00000307305:p.Gly75Arg						p.G75R	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	425	+			75					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.223G>C	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114525	0.37339	.	.	ENSG00000168209	ENST00000307365	T	0.42513	0.97	5.38	5.38	0.77491	.	0.372844	0.28853	N	0.013930	T	0.26810	0.0656	N	0.08118	0	0.39482	D	0.967901	B	0.29085	0.232	B	0.27715	0.082	T	0.10543	-1.0625	10	0.25751	T	0.34	-14.1415	18.7612	0.91851	0.0:0.0:1.0:0.0	.	75	Q9NX09	DDIT4_HUMAN	R	75	ENSP00000307305:G75R	ENSP00000307305:G75R	G	+	1	0	DDIT4	73704476	1.000000	0.71417	0.991000	0.47740	0.536000	0.34869	5.758000	0.68776	2.524000	0.85096	0.561000	0.74099	GGG		PASS	0.587	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		85	151	85	151	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373301	87373301	+	Missense_Mutation	SNP	C	C	T	rs143982305		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:87373301C>T	ENST00000327946.7	-	15	2549	c.2464G>A	c.(2464-2466)Gac>Aac	p.D822N	GRID1_ENST00000536331.1_Missense_Mutation_p.D393N|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	822					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D822N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GATTTGCCGTCGGCCTGGGCG	0.657										Multiple Myeloma(13;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17397	0.0		0.001	False		,,,				2504	0.0					uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2464-2466)GAC>AAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	67.0	73.0	71.0		2464	5.6	0.3	10	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GRID1	NM_017551.2	23	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	822/1010	87373301	4,13002	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373301C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2464G>A	10.37:g.87373301C>T	ENSP00000330148:p.Asp822Asn	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.D393N	p.D822N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2565	-			822			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2464G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614156	0.66672	2.27E-4	3.49E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54279	0.58;0.58	5.57	5.57	0.84162	Ionotropic glutamate receptor (1);	0.407810	0.29791	N	0.011182	T	0.46405	0.1391	N	0.22421	0.69	0.80722	D	1	P	0.47604	0.898	B	0.43889	0.435	T	0.52124	-0.8617	10	0.72032	D	0.01	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	822	Q9ULK0	GRID1_HUMAN	N	822;393	ENSP00000330148:D822N;ENSP00000444455:D393N	ENSP00000330148:D822N	D	-	1	0	GRID1	87363281	1.000000	0.71417	0.319000	0.25293	0.863000	0.49368	5.742000	0.68646	2.633000	0.89246	0.650000	0.86243	GAC		PASS	0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		10	61	10	61	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692898	89692898	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:89692898A>C	ENST00000371953.3	+	5	1739	c.382A>C	c.(382-384)Aag>Cag	p.K128Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	128	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.K128Q(1)|p.K128_R130del(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAAAGCTGGAAAGGGACGAAC	0.418		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	p.R55fs*1(4)|p.K128N(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(382-384)AAG>CAG		phosphatase and tensin homolog							141.0	130.0	134.0					10																	89692898		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692898A>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.382A>C	10.37:g.89692898A>C	ENSP00000361021:p.Lys128Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.K128Q	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1413	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	128	K->M: 85% reduction in phosphatase activity towards PtdIns(3,4,5)P3.|K->R: Does not reduce phosphatase activity towards PtdIns(3,4,5)P3.		Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.382A>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.820144	0.90873	.	.	ENSG00000171862	ENST00000371953	D	0.85258	-1.96	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96119	0.9083	9	.	.	.	-9.6267	15.1019	0.72284	1.0:0.0:0.0:0.0	.	128	P60484	PTEN_HUMAN	Q	128	ENSP00000361021:K128Q	.	K	+	1	0	PTEN	89682878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	1.953000	0.56701	0.533000	0.62120	AAG		PASS	0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		74	114	74	114	---	---	---	---
CYP26A1	1592	broad.mit.edu	37	10	94834612	94834612	+	Missense_Mutation	SNP	T	T	C	rs148053802		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:94834612T>C	ENST00000224356.4	+	3	536	c.491T>C	c.(490-492)cTg>cCg	p.L164P	CYP26A1_ENST00000371531.1_Missense_Mutation_p.L95P|CYP26A1_ENST00000394139.1_Missense_Mutation_p.L95P	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	164					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.L95P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGCAGCAGCCTGGAGCAGTGG	0.652																																						uc001kil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(490-492)CTG>CCG		cytochrome P450, family 26, subfamily A,							37.0	39.0	39.0					10																	94834612		2202	4299	6501	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834612T>C	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.491T>C	10.37:g.94834612T>C	ENSP00000224356:p.Leu164Pro					CYP26A1_uc001kik.1_Missense_Mutation_p.L95P|CYP26A1_uc001kim.1_Missense_Mutation_p.L62P	p.L164P	NM_000783	NP_000774	O43174	CP26A_HUMAN			3	536	+		Colorectal(252;0.122)	164					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.491T>C	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843965	0.71488	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.72505	-0.66;-0.66;-0.66	5.03	5.03	0.67393	.	0.161691	0.43110	D	0.000610	T	0.81650	0.4867	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76071	0.987;0.98	D	0.83842	0.0258	10	0.87932	D	0	-14.4845	14.5842	0.68312	0.0:0.0:0.0:1.0	.	95;164	B3KNI4;O43174	.;CP26A_HUMAN	P	95;164;95	ENSP00000360586:L95P;ENSP00000224356:L164P;ENSP00000377695:L95P	ENSP00000224356:L164P	L	+	2	0	CYP26A1	94824602	1.000000	0.71417	0.811000	0.32455	0.786000	0.44442	7.802000	0.85969	2.116000	0.64780	0.379000	0.24179	CTG		PASS	0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			11	58	11	58	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102089039	102089039	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr10:102089039C>A	ENST00000318222.3	-	2	660	c.278G>T	c.(277-279)cGg>cTg	p.R93L	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R93L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R93L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	93					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.R93L(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ATAAAGTTCCCGGTTCTCAGC	0.502																																						uc001kqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(277-279)CGG>CTG		polycystic kidney disease 2-like 1							190.0	157.0	168.0					10																	102089039		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102089039C>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.278G>T	10.37:g.102089039C>A	ENSP00000325296:p.Arg93Leu					PKD2L1_uc009xwm.1_Missense_Mutation_p.R46L	p.R93L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	2	661	-		Colorectal(252;0.117)	93			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.278G>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160558	0.78226	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.70516	-0.44;-0.49;-0.46	5.15	3.3	0.37823	.	0.135935	0.46442	D	0.000283	T	0.81814	0.4902	M	0.80422	2.495	0.28900	N	0.893324	D;D	0.76494	0.999;0.999	D;D	0.71870	0.954;0.975	T	0.76305	-0.3008	10	0.72032	D	0.01	-16.6923	9.4734	0.38856	0.0:0.8275:0.0:0.1725	.	46;93	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	L	93	ENSP00000345068:R93L;ENSP00000266049:R93L;ENSP00000325296:R93L	ENSP00000325296:R93L	R	-	2	0	PKD2L1	102079029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.825000	0.39081	0.582000	0.29556	0.561000	0.74099	CGG		PASS	0.502	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		47	100	47	100	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020437	5020437	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:5020437G>T	ENST00000321543.1	+	1	225	c.225G>T	c.(223-225)atG>atT	p.M75I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M75I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGGGGATGTCCCTGTCTA	0.463																																						uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(223-225)ATG>ATT		olfactory receptor, family 51, subfamily L,							207.0	172.0	184.0					11																	5020437		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020437G>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.225G>T	11.37:g.5020437G>T	ENSP00000322156:p.Met75Ile						p.M75I	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	225	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	75			Helical; Name=2; (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.225G>T	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289183	0.23478	.	.	ENSG00000176798	ENST00000321543	T	0.02890	4.12	5.57	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.144113	0.33438	N	0.004920	T	0.02688	0.0081	N	0.20807	0.61	0.22171	N	0.999314	B	0.24483	0.104	B	0.18871	0.023	T	0.41592	-0.9500	10	0.54805	T	0.06	.	13.0836	0.59127	0.0:0.0:0.8394:0.1605	.	75	Q8NGJ5	O51L1_HUMAN	I	75	ENSP00000322156:M75I	ENSP00000322156:M75I	M	+	3	0	OR51L1	4977013	0.000000	0.05858	0.987000	0.45799	0.555000	0.35460	0.116000	0.15561	1.576000	0.49790	0.650000	0.86243	ATG		PASS	0.463	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		25	144	25	144	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153675	5153675	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:5153675G>T	ENST00000307388.1	-	1	197	c.198C>A	c.(196-198)gcC>gcA	p.A66A		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	66					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A66A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGCCAACATGGCCAAAAAAA	0.383																																						uc010qyx.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(196-198)GCC>GCA		olfactory receptor, family 52, subfamily A,							73.0	72.0	72.0					11																	5153675		2201	4298	6499	SO:0001819	synonymous_variant	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153675G>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.198C>A	11.37:g.5153675G>T							p.A66A	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	198	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	66			Helical; Name=2; (Potential).			Silent	SNP	ENST00000307388.1	37	c.198C>A	CCDS31373.1																																																																																				PASS	0.383	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		14	74	14	74	---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6943116	6943116	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:6943116C>A	ENST00000317834.3	+	1	912	c.884C>A	c.(883-885)aCa>aAa	p.T295K		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T295K(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGTTCTATACAGCGGTGACT	0.408																																						uc010rav.1																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)ACA>AAA		olfactory receptor, family 2, subfamily D,							92.0	92.0	92.0					11																	6943116		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943116C>A	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.884C>A	11.37:g.6943116C>A	ENSP00000320560:p.Thr295Lys						p.T295K	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	884	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	295			Helical; Name=7; (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.884C>A	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790796	0.16258	.	.	ENSG00000178358	ENST00000317834	T	0.00265	8.39	4.95	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.346769	0.21127	N	0.079703	T	0.00608	0.0020	M	0.94063	3.49	0.09310	N	1	D	0.56968	0.978	P	0.62649	0.905	T	0.25710	-1.0124	10	0.66056	D	0.02	-9.3219	7.2901	0.26362	0.0:0.7401:0.1696:0.0902	.	295	Q8NGH3	OR2D3_HUMAN	K	295	ENSP00000320560:T295K	ENSP00000320560:T295K	T	+	2	0	OR2D3	6899692	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	0.390000	0.20768	1.466000	0.48025	-0.150000	0.13652	ACA		PASS	0.408	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		16	137	16	137	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7059857	7059857	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:7059857G>T	ENST00000299481.4	+	2	386	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	14	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.G14W(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCCTGATTTTGGGCTGCTATT	0.403																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(40-42)GGG>TGG		NLR family, pyrin domain containing 14							92.0	100.0	97.0					11																	7059857		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059857G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.40G>T	11.37:g.7059857G>T	ENSP00000299481:p.Gly14Trp						p.G14W	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	363	+			14			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.40G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973582	0.53720	.	.	ENSG00000158077	ENST00000299481	T	0.53206	0.63	4.22	3.28	0.37604	Pyrin (2);DEATH-like (2);	0.484247	0.17587	N	0.168904	T	0.65995	0.2745	M	0.78344	2.41	0.27519	N	0.951462	D	0.89917	1.0	D	0.85130	0.997	T	0.57682	-0.7769	10	0.87932	D	0	.	9.3518	0.38142	0.0:0.0:0.7867:0.2133	.	14	Q86W24	NAL14_HUMAN	W	14	ENSP00000299481:G14W	ENSP00000299481:G14W	G	+	1	0	NLRP14	7016433	0.783000	0.28701	0.915000	0.36163	0.945000	0.59286	0.918000	0.28678	1.327000	0.45338	0.655000	0.94253	GGG		PASS	0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		22	175	22	175	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7818326	7818326	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:7818326A>G	ENST00000329434.2	-	1	194	c.164T>C	c.(163-165)aTg>aCg	p.M55T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M55T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAATACATAGGATGATG	0.408																																						uc001mfp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(163-165)ATG>ACG		olfactory receptor, family 5, subfamily P,							64.0	81.0	76.0					11																	7818326		2102	4292	6394	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818326A>G	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.164T>C	11.37:g.7818326A>G	ENSP00000331823:p.Met55Thr						p.M55T	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	164	-			55			Helical; Name=2; (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.164T>C	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680831	0.29872	.	.	ENSG00000183303	ENST00000329434	T	0.09817	2.94	5.5	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.94063	3.49	0.42130	D	0.991468	P	0.40553	0.721	B	0.40228	0.323	T	0.16041	-1.0416	10	0.87932	D	0	-89.6077	10.9968	0.47580	0.8436:0.1564:0.0:0.0	.	55	Q8WZ92	OR5P2_HUMAN	T	55	ENSP00000331823:M55T	ENSP00000331823:M55T	M	-	2	0	OR5P2	7774902	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.835000	0.69368	1.084000	0.41184	0.454000	0.30748	ATG		PASS	0.408	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		14	68	14	68	---	---	---	---
USP47	55031	broad.mit.edu	37	11	11969555	11969555	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:11969555T>G	ENST00000399455.2	+	22	3335	c.3215T>G	c.(3214-3216)tTt>tGt	p.F1072C	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.F984C|USP47_ENST00000527733.1_Missense_Mutation_p.F1052C	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1072					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.F984C(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTAGAGCCCTTTGTTGGAGTT	0.393																																						uc001mjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3154-3156)TTT>TGT		ubiquitin specific protease 47							155.0	147.0	150.0					11																	11969555		1847	4083	5930	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11969555T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3215T>G	11.37:g.11969555T>G	ENSP00000382382:p.Phe1072Cys					USP47_uc001mjr.2_Missense_Mutation_p.F984C|USP47_uc009ygi.2_5'Flank	p.F1052C	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	21	3918	+			1072					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3155T>G		.	.	.	.	.	.	.	.	.	.	T	19.18	3.777891	0.70107	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.95035	-3.59;-3.59;-3.59	5.46	5.46	0.80206	.	0.099564	0.64402	D	0.000001	D	0.93530	0.7935	L	0.50333	1.59	0.80722	D	1	D;D	0.58268	0.97;0.982	B;P	0.47162	0.339;0.54	D	0.93869	0.7160	10	0.59425	D	0.04	.	15.2027	0.73153	0.0:0.0:0.0:1.0	.	1052;984	E9PM46;Q96K76-2	.;.	C	984;1052;1072	ENSP00000339957:F984C;ENSP00000433146:F1052C;ENSP00000382382:F1072C	ENSP00000339957:F984C	F	+	2	0	USP47	11926131	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.348000	0.73009	2.049000	0.60858	0.482000	0.46254	TTT		PASS	0.393	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		29	173	29	173	---	---	---	---
ELP4	26610	broad.mit.edu	37	11	31531381	31531381	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:31531381C>T	ENST00000350638.5	+	1	85	c.50C>T	c.(49-51)gCa>gTa	p.A17V	IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|ELP4_ENST00000395934.2_Missense_Mutation_p.A17V|ELP4_ENST00000379163.5_Missense_Mutation_p.A17V	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	17					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.A17V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ACTGGGTCTGCAGTGGCGACA	0.597																																						uc001mtb.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(49-51)GCA>GTA		elongation protein 4 homolog							45.0	52.0	50.0					11																	31531381		2111	4239	6350	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531381C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.50C>T	11.37:g.31531381C>T	ENSP00000298937:p.Ala17Val					IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.A17V|ELP4_uc010rdz.1_Missense_Mutation_p.A17V|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	p.A17V	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			1	85	+	Lung SC(675;0.225)		17					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.50C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818627	0.32145	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.47869	0.9;0.83;1.44	4.54	-2.46	0.06461	.	1.613420	0.03076	N	0.157913	T	0.25827	0.0629	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.07028	-1.0794	10	0.18710	T	0.47	-0.2918	2.885	0.05659	0.3336:0.3093:0.0:0.3571	.	17;17;17	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	V	17	ENSP00000298937:A17V;ENSP00000368461:A17V;ENSP00000379267:A17V	ENSP00000298937:A17V	A	+	2	0	ELP4	31487957	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.121000	0.03270	-0.193000	0.10415	-0.378000	0.06908	GCA		PASS	0.597	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		8	50	8	50	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168457	49168457	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:49168457C>T	ENST00000256999.2	-	19	2364	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R	FOLH1_ENST00000343844.4_Missense_Mutation_p.G394R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G656R|FOLH1_ENST00000340334.7_Missense_Mutation_p.G687R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G671R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	702					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.G702R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATGACTCCCCTGCATACTTG	0.423																																						uc001ngy.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2104-2106)GGG>AGG		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						118.0	115.0	116.0					11																	49168457		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49168457C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2104G>A	11.37:g.49168457C>T	ENSP00000256999:p.Gly702Arg					FOLH1_uc001ngx.2_Silent_p.Q101Q|FOLH1_uc001ngz.2_Missense_Mutation_p.G671R|FOLH1_uc009yly.2_Missense_Mutation_p.G687R|FOLH1_uc009ylz.2_Missense_Mutation_p.G656R|FOLH1_uc009yma.2_Missense_Mutation_p.G394R	p.G702R	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			19	2365	-			702			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2104G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031270	0.75504	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	3.26	3.26	0.37387	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.56097	D	0.000022	T	0.73536	0.3599	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;1.0;0.99;0.97	T	0.78563	-0.2156	10	0.62326	D	0.03	.	12.3155	0.54953	0.0:1.0:0.0:0.0	.	656;687;671;702	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	R	702;671;687;394;656	ENSP00000256999:G702R;ENSP00000349129:G671R;ENSP00000344131:G687R;ENSP00000344086:G394R;ENSP00000431463:G656R	ENSP00000256999:G702R	G	-	1	0	FOLH1	49125033	1.000000	0.71417	0.927000	0.36925	0.930000	0.56654	6.675000	0.74493	1.818000	0.53035	0.609000	0.83330	GGG		PASS	0.423	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	105	14	105	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541644	55541644	+	Missense_Mutation	SNP	C	C	T	rs76632744		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:55541644C>T	ENST00000361760.1	+	1	731	c.731C>T	c.(730-732)gCc>gTc	p.A244V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A244V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCACCTGTGCCTCCCACCTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20308	0.001		0.0	False		,,,				2504	0.0					uc010ril.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(730-732)GCC>GTC		olfactory receptor, family 5, subfamily D,							136.0	117.0	123.0					11																	55541644		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541644C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.731C>T	11.37:g.55541644C>T	ENSP00000354800:p.Ala244Val						p.A244V	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	731	+		all_epithelial(135;0.196)	244			Helical; Name=6; (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.731C>T	CCDS31507.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.55	2.272086	0.40194	.	.	ENSG00000198877	ENST00000361760	T	0.38560	1.13	3.82	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33834	U	0.004509	T	0.62344	0.2420	M	0.79805	2.47	0.23519	N	0.9975	D	0.67145	0.996	D	0.71414	0.973	T	0.55774	-0.8088	10	0.66056	D	0.02	-6.0884	11.2241	0.48873	0.0:0.6409:0.3591:0.0	.	244	Q8NGL4	OR5DD_HUMAN	V	244	ENSP00000354800:A244V	ENSP00000354800:A244V	A	+	2	0	OR5D13	55298220	0.000000	0.05858	0.748000	0.31131	0.154000	0.21943	-0.604000	0.05667	0.727000	0.32360	0.486000	0.48141	GCC		PASS	0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		17	108	17	108	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:55587827C>A	ENST00000333976.4	+	1	742	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241N(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCCTCC	0.507																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(721-723)ACC>AAC		olfactory receptor, family 5, subfamily D,							134.0	115.0	122.0					11																	55587827		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587827C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.722C>A	11.37:g.55587827C>A	ENSP00000335025:p.Thr241Asn						p.T241N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	722	+		all_epithelial(135;0.208)	241			Helical; Name=6; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.722C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.433657	0.83776	.	.	ENSG00000186119	ENST00000333976	T	0.40476	1.03	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.75946	0.3919	H	0.96111	3.77	0.42146	D	0.991539	D	0.89917	1.0	D	0.97110	1.0	D	0.84845	0.0810	10	0.87932	D	0	-51.9013	17.0924	0.86625	0.0:1.0:0.0:0.0	.	241	Q8NGL1	OR5DI_HUMAN	N	241	ENSP00000335025:T241N	ENSP00000335025:T241N	T	+	2	0	OR5D18	55344403	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.498000	0.60373	2.467000	0.83353	0.573000	0.79308	ACC		PASS	0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		7	87	7	87	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55657498	55657498	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:55657498G>A	ENST00000449290.2	+	6	934	c.842G>A	c.(841-843)aGc>aAc	p.S281N	TRIM51_ENST00000244891.3_Missense_Mutation_p.S138N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	281	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S281N(1)|p.S122N(1)									CTGCTGGACAGCCTCAGTGGA	0.502																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(841-843)AGC>AAC		SPRY domain containing 5							53.0	48.0	50.0					11																	55657498		2201	4295	6496	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55657498G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.842G>A	11.37:g.55657498G>A	ENSP00000395086:p.Ser281Asn					SPRYD5_uc010riq.1_Missense_Mutation_p.S138N	p.S281N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	934	+		all_epithelial(135;0.226)	281			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.842G>A		.	.	.	.	.	.	.	.	.	.	.	4.107	0.017906	0.07959	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04758	3.56;3.56	0.471	-0.775	0.10988	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.46569	-0.9182	8	0.27785	T	0.31	.	.	.	.	.	281	Q9BSJ1	SPRY5_HUMAN	N	281;138	ENSP00000395086:S281N;ENSP00000244891:S138N	ENSP00000244891:S138N	S	+	2	0	SPRYD5	55414074	0.169000	0.23002	0.001000	0.08648	0.221000	0.24807	-0.343000	0.07791	-0.370000	0.08016	0.162000	0.16502	AGC		PASS	0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		10	50	10	50	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927594	55927594	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:55927594G>T	ENST00000313447.1	-	1	199	c.200C>A	c.(199-201)gCt>gAt	p.A67D		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A67D(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCAACAAAAGCCAAATGTCT	0.393																																						uc010rja.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(199-201)GCT>GAT		olfactory receptor, family 8, subfamily K,							112.0	111.0	111.0					11																	55927594		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927594G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.200C>A	11.37:g.55927594G>T	ENSP00000323853:p.Ala67Asp						p.A67D	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	200	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	67			Helical; Name=2; (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.200C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907967	0.52333	.	.	ENSG00000181752	ENST00000313447	T	0.10005	2.92	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42359	0.1199	M	0.92604	3.325	0.37709	D	0.924506	D	0.89917	1.0	D	0.91635	0.999	T	0.63005	-0.6733	9	0.87932	D	0	.	15.4484	0.75253	0.0:0.0:1.0:0.0	.	67	Q8NH50	OR8K5_HUMAN	D	67	ENSP00000323853:A67D	ENSP00000323853:A67D	A	-	2	0	OR8K5	55684170	0.802000	0.28943	0.980000	0.43619	0.046000	0.14306	3.705000	0.54823	2.151000	0.67156	0.560000	0.71715	GCT		PASS	0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		14	131	14	131	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113543	56113543	+	Missense_Mutation	SNP	C	C	A	rs140629640	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:56113543C>A	ENST00000279783.2	+	1	123	c.29C>A	c.(28-30)aCg>aAg	p.T10K		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10K(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CACAATCACACGGCAGTGACC	0.373										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(28-30)ACG>AAG		olfactory receptor, family 8, subfamily K,							83.0	79.0	80.0					11																	56113543		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113543C>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.29C>A	11.37:g.56113543C>A	ENSP00000279783:p.Thr10Lys	HNSCC(65;0.19)					p.T10K	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	29	+	Esophageal squamous(21;0.00448)		10			Extracellular (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.29C>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848614	0.32699	.	.	ENSG00000150261	ENST00000279783	T	0.54071	0.59	5.08	4.15	0.48705	.	0.421084	0.20186	N	0.097418	T	0.54806	0.1881	M	0.84846	2.72	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.52953	-0.8506	10	0.48119	T	0.1	-15.0023	8.6949	0.34289	0.0:0.7629:0.1534:0.0837	.	10	Q8NGG5	OR8K1_HUMAN	K	10	ENSP00000279783:T10K	ENSP00000279783:T10K	T	+	2	0	OR8K1	55870119	0.000000	0.05858	0.004000	0.12327	0.194000	0.23727	0.378000	0.20569	1.099000	0.41499	0.442000	0.29010	ACG		PASS	0.373	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		17	71	17	71	---	---	---	---
UBE2L6	9246	broad.mit.edu	37	11	57319921	57319921	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:57319921G>T	ENST00000287156.4	-	4	567	c.372C>A	c.(370-372)gaC>gaA	p.D124E	UBE2L6_ENST00000340573.4_Missense_Mutation_p.D58E	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	124					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.D124E(1)		large_intestine(1)|lung(3)|ovary(1)	5						GGTCAGCGAGGTCCATCCGCA	0.567																																						uc001nkn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)GAC>GAA		ubiquitin-conjugating enzyme E2L 6 isoform 1							168.0	161.0	163.0					11																	57319921		2201	4296	6497	SO:0001583	missense	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57319921G>T	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.372C>A	11.37:g.57319921G>T	ENSP00000287156:p.Asp124Glu					UBE2L6_uc001nko.1_Missense_Mutation_p.D58E	p.D124E	NM_004223	NP_004214	O14933	UB2L6_HUMAN			4	468	-			124					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	ENST00000287156.4	37	c.372C>A	CCDS7960.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519387	0.27211	.	.	ENSG00000156587	ENST00000340573;ENST00000287156;ENST00000527022	T;T;T	0.70282	1.24;-0.47;1.24	5.52	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.991143	0.08186	N	0.984700	T	0.29783	0.0744	N	0.03071	-0.42	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.14699	-1.0463	10	0.02654	T	1	.	4.6438	0.12561	0.0871:0.1445:0.4174:0.351	.	124	O14933	UB2L6_HUMAN	E	58;124;58	ENSP00000341980:D58E;ENSP00000287156:D124E;ENSP00000435265:D58E	ENSP00000287156:D124E	D	-	3	2	UBE2L6	57076497	0.785000	0.28726	0.000000	0.03702	0.017000	0.09413	-0.242000	0.08928	-2.741000	0.00379	-0.976000	0.02587	GAC		PASS	0.567	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		35	258	35	258	---	---	---	---
MS4A10	341116	broad.mit.edu	37	11	60557884	60557884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:60557884C>T	ENST00000308287.1	+	2	172	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	26						integral component of membrane (GO:0016021)		p.Q26*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGCCCAGTCCAGCCCTGGCA	0.592																																						uc001npz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(76-78)CAG>TAG		membrane-spanning 4-domains, subfamily A, member							109.0	101.0	104.0					11																	60557884		2203	4300	6503	SO:0001587	stop_gained	341116					integral to membrane	receptor activity	g.chr11:60557884C>T	AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.76C>T	11.37:g.60557884C>T	ENSP00000311862:p.Gln26*						p.Q26*	NM_206893	NP_996776	Q96PG2	M4A10_HUMAN			2	172	+			26			Cytoplasmic (Potential).		B2RP45|Q96PG3	Nonsense_Mutation	SNP	ENST00000308287.1	37	c.76C>T	CCDS7992.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791065	0.50102	.	.	ENSG00000172689	ENST00000308287	.	.	.	2.88	1.93	0.25924	.	1.228420	0.06130	N	0.670462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.2617	9.1413	0.36906	0.2196:0.7804:0.0:0.0	.	.	.	.	X	26	.	ENSP00000311862:Q26X	Q	+	1	0	MS4A10	60314460	0.004000	0.15560	0.018000	0.16275	0.037000	0.13140	-0.093000	0.11111	0.759000	0.33084	0.462000	0.41574	CAG		PASS	0.592	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893		23	126	23	126	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62490109	62490109	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:62490109C>G	ENST00000301785.5	-	6	1251	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.Q353H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q353H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCAAAAGTCTGGCCAAATT	0.428																																						uc001nuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)CAG>CAC		heterogeneous nuclear ribonucleoprotein U-like							148.0	133.0	138.0					11																	62490109		1930	4136	6066	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490109C>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1059G>C	11.37:g.62490109C>G	ENSP00000301785:p.Gln353His					HNRNPUL2_uc001nuu.1_RNA	p.Q353H	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			6	1252	-			353			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1059G>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562955	0.65538	.	.	ENSG00000214753	ENST00000301785	T	0.73897	-0.79	5.3	4.37	0.52481	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.129345	0.50627	D	0.000107	T	0.67496	0.2899	L	0.31371	0.925	0.40678	D	0.982271	P	0.40360	0.714	B	0.43728	0.429	T	0.72054	-0.4406	10	0.72032	D	0.01	-18.1274	12.1472	0.54029	0.0:0.6673:0.3327:0.0	.	353	Q1KMD3	HNRL2_HUMAN	H	353	ENSP00000301785:Q353H	ENSP00000301785:Q353H	Q	-	3	2	HNRNPUL2	62246685	0.979000	0.34478	1.000000	0.80357	0.885000	0.51271	2.044000	0.41241	1.424000	0.47217	0.650000	0.86243	CAG		PASS	0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		14	117	14	117	---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65062070	65062070	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:65062070C>T	ENST00000265465.3	+	15	1938	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	POLA2_ENST00000541089.1_Silent_p.F261F|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	469					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)	p.F469F(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GAGTGATCTTCGGCTTGACAT	0.493																																						uc001odj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1405-1407)TTC>TTT		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						117.0	109.0	112.0					11																	65062070		2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65062070C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1407C>T	11.37:g.65062070C>T						POLA2_uc010rod.1_Silent_p.F261F|POLA2_uc001odk.2_Silent_p.F166F	p.F469F	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			15	1749	+			469					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1407C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822776	0.02755	.	.	ENSG00000014138	ENST00000525924	.	.	.	5.58	-5.86	0.02304	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41466	-0.9507	4	.	.	.	-11.1951	3.1889	0.06610	0.0985:0.3655:0.216:0.3201	.	.	.	.	L	139	.	.	S	+	2	0	POLA2	64818646	0.002000	0.14202	0.399000	0.26333	0.014000	0.08584	-1.812000	0.01726	-0.787000	0.04510	-1.267000	0.01435	TCG		PASS	0.493	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		11	114	11	114	---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65648993	65648993	+	Splice_Site	SNP	T	T	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:65648993T>G	ENST00000307886.3	+	3	332		c.e3+2		CTSW_ENST00000528419.1_Splice_Site	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W						immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACCTCACAGGTACCATTAACC	0.577																																						uc001ogc.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e3+2		cathepsin W preproprotein							559.0	530.0	540.0					11																	65648993		2201	4296	6497	SO:0001630	splice_region_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65648993T>G	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.286+2T>G	11.37:g.65648993T>G						CTSW_uc001ogb.1_Splice_Site_p.E96_splice	p.E96_splice	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	3	328	+								Q86VT4	Splice_Site	SNP	ENST00000307886.3	37	c.286_splice	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478717	0.63849	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	.	.	.	5.85	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8832	0.41247	0.0:0.0:0.1718:0.8282	.	.	.	.	.	-1	.	.	.	+	.	.	CTSW	65405569	1.000000	0.71417	0.991000	0.47740	0.895000	0.52256	4.743000	0.62110	0.991000	0.38814	0.533000	0.62120	.		PASS	0.577	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335	Intron	116	719	116	719	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66191103	66191103	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:66191103C>T	ENST00000311034.2	+	6	1039	c.863C>T	c.(862-864)aCt>aTt	p.T288I		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	288	PAC.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.T288I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCCAAGACTGGAGGCTGG	0.522																																						uc001ohx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)ACT>ATT		neuronal PAS domain protein 4							94.0	84.0	88.0					11																	66191103		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191103C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.863C>T	11.37:g.66191103C>T	ENSP00000311196:p.Thr288Ile					NPAS4_uc010rpc.1_Missense_Mutation_p.T78I	p.T288I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			6	1039	+			288			PAC.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.863C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	8.309	0.821704	0.16678	.	.	ENSG00000174576	ENST00000311034	T	0.17528	2.27	4.97	2.86	0.33363	PAS fold-3 (1);	1.098180	0.06952	N	0.814734	T	0.14013	0.0339	N	0.24115	0.695	0.22156	N	0.999322	B	0.06786	0.001	B	0.01281	0.0	T	0.34850	-0.9812	10	0.38643	T	0.18	1.6632	11.5044	0.50456	0.4305:0.5695:0.0:0.0	.	288	Q8IUM7	NPAS4_HUMAN	I	288	ENSP00000311196:T288I	ENSP00000311196:T288I	T	+	2	0	NPAS4	65947679	0.009000	0.17119	0.320000	0.25306	0.974000	0.67602	0.287000	0.18920	0.470000	0.27294	0.561000	0.74099	ACT		PASS	0.522	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		13	90	13	90	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67818063	67818063	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:67818063G>T	ENST00000265686.3	+	19	2454	c.2346G>T	c.(2344-2346)gtG>gtT	p.V782V	RP11-802E16.3_ENST00000534517.1_RNA|CHKA_ENST00000533728.1_5'Flank|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000530802.1_Intron|TCIRG1_ENST00000532635.1_Silent_p.V566V	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	782					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.V782V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTTTGCCGTGATGACCGTGG	0.667																																						uc001one.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2344-2346)GTG>GTT		T-cell, immune regulator 1 isoform a							120.0	124.0	123.0					11																	67818063		2200	4294	6494	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67818063G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2346G>T	11.37:g.67818063G>T						TCIRG1_uc001ong.2_Silent_p.V566V|TCIRG1_uc001onh.2_Silent_p.V484V|TCIRG1_uc001oni.2_Silent_p.V286V|TCIRG1_uc009ysd.2_Intron	p.V782V	NM_006019	NP_006010	Q13488	VPP3_HUMAN			19	2454	+			782			Helical; (Potential).		O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.2346G>T	CCDS8177.1																																																																																				PASS	0.667	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		17	93	17	93	---	---	---	---
MRGPRD	116512	broad.mit.edu	37	11	68748106	68748106	+	Missense_Mutation	SNP	G	G	A	rs147515740		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:68748106G>A	ENST00000309106.3	-	1	349	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	117						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T117M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGATGGCCGTCAGCAGGCT	0.592																																						uc010rqf.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(349-351)ACG>ATG		MAS-related GPR, member D		G	MET/THR	0,4400		0,0,2200	80.0	68.0	72.0		350	1.9	0.0	11	dbSNP_134	72	1,8587	1.2+/-3.3	0,1,4293	no	missense	MRGPRD	NM_198923.2	81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	117/322	68748106	1,12987	2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748106G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.350C>T	11.37:g.68748106G>A	ENSP00000310631:p.Thr117Met						p.T117M	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	350	-			117			Helical; Name=3; (Potential).		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.350C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220881	0.22457	0.0	1.16E-4	ENSG00000172938	ENST00000309106	T	0.74002	-0.8	4.87	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.357862	0.20203	U	0.097051	T	0.81697	0.4877	M	0.82630	2.6	0.09310	N	1	D	0.65815	0.995	P	0.60541	0.876	T	0.70605	-0.4826	10	0.48119	T	0.1	-20.5863	6.1871	0.20503	0.1766:0.1546:0.6688:0.0	.	117	Q8TDS7	MRGRD_HUMAN	M	117	ENSP00000310631:T117M	ENSP00000310631:T117M	T	-	2	0	MRGPRD	68504682	0.023000	0.18921	0.002000	0.10522	0.003000	0.03518	1.651000	0.37302	0.118000	0.18165	-0.515000	0.04445	ACG		PASS	0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		7	42	7	42	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102592384	102592384	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:102592384G>T	ENST00000236826.3	-	3	555	c.457C>A	c.(457-459)Cag>Aag	p.Q153K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	153					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.Q153K(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GCCTCTCCCTGTGAGATCCTG	0.463																																						uc001phe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(457-459)CAG>AAG		matrix metalloproteinase 8 preproprotein							129.0	109.0	116.0					11																	102592384		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102592384G>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.457C>A	11.37:g.102592384G>T	ENSP00000236826:p.Gln153Lys					MMP8_uc010rut.1_Missense_Mutation_p.Q88K|MMP8_uc010ruu.1_Missense_Mutation_p.Q130K	p.Q153K	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	3	556	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	153					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.457C>A	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.980|8.980	0.975189|0.975189	0.18736|0.18736	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942|ENST00000438475	T|.	0.21361|.	2.01|.	5.46|5.46	-0.656|-0.656	0.11436|0.11436	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);|.	0.909534|.	0.09330|.	N|.	0.817027|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.04820|0.04820	-0.15|-0.15	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.0;0.001|.	T|T	0.20438|0.20438	-1.0275|-1.0275	10|5	0.20046|.	T|.	0.44|.	.|.	14.8387|14.8387	0.70206|0.70206	0.0:0.6883:0.1589:0.1528|0.0:0.6883:0.1589:0.1528	.|.	153;88;153|.	A8K9E4;F5GXB5;P22894|.	.;.;MMP8_HUMAN|.	K|K	153;130;88|128	ENSP00000236826:Q153K|.	ENSP00000236826:Q153K|.	Q|T	-|-	1|2	0|0	MMP8|MMP8	102097594|102097594	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.178000|0.178000	0.23041|0.23041	-0.406000|-0.406000	0.07187|0.07187	-0.008000|-0.008000	0.14320|0.14320	0.655000|0.655000	0.94253|0.94253	CAG|ACA		PASS	0.463	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		22	62	22	62	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107309855	107309855	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:107309855G>C	ENST00000282251.5	-	6	652	c.625C>G	c.(625-627)Ctt>Gtt	p.L209V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L209V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	209							catalytic activity (GO:0003824)	p.L55V(1)|p.L209V(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCAGGTGGAAGACCTGTCCCA	0.333																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(625-627)CTT>GTT		CWF19-like 2, cell cycle control							74.0	67.0	69.0					11																	107309855		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107309855G>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.625C>G	11.37:g.107309855G>C	ENSP00000282251:p.Leu209Val					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.L209V	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	6	655	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	209			Potential.		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.625C>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784673	0.70222	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.46698	0.1406	M	0.79011	2.435	0.42989	D	0.994489	D	0.89917	1.0	D	0.91635	0.999	T	0.45220	-0.9276	10	0.62326	D	0.03	-14.353	12.1989	0.54313	0.0853:0.0:0.9147:0.0	.	209	Q2TBE0	C19L2_HUMAN	V	209	ENSP00000282251:L209V;ENSP00000387533:L209V	ENSP00000282251:L209V	L	-	1	0	CWF19L2	106815065	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.653000	0.61462	2.708000	0.92522	0.650000	0.86243	CTT		PASS	0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		3	30	3	30	---	---	---	---
ATM	472	broad.mit.edu	37	11	108170460	108170460	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:108170460G>T	ENST00000452508.2	+	35	5214	c.5025G>T	c.(5023-5025)ttG>ttT	p.L1675F	ATM_ENST00000278616.4_Missense_Mutation_p.L1675F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1675					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1675F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAGCTGCTTGGGAGAAGTGG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5023-5025)TTG>TTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							108.0	117.0	114.0					11																	108170460		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108170460G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5025G>T	11.37:g.108170460G>T	ENSP00000388058:p.Leu1675Phe	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.L1675F|ATM_uc001pke.1_Missense_Mutation_p.L327F|ATM_uc001pkg.1_Missense_Mutation_p.L32F	p.L1675F	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5410	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1675					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5025G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896320	0.72639	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.72282	-0.64;-0.64	5.47	4.53	0.55603	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.74258	2.255	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	T	0.80476	-0.1366	10	0.51188	T	0.08	.	7.9625	0.30079	0.0846:0.0:0.7588:0.1567	.	1675	Q13315	ATM_HUMAN	F	1675	ENSP00000278616:L1675F;ENSP00000388058:L1675F	ENSP00000278616:L1675F	L	+	3	2	ATM	107675670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.253000	0.51469	1.221000	0.43506	0.650000	0.86243	TTG		PASS	0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		20	157	20	157	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123516345	123516345	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:123516345T>A	ENST00000392770.2	-	2	971	c.169A>T	c.(169-171)Acc>Tcc	p.T57S	SCN3B_ENST00000530277.1_Missense_Mutation_p.T57S|SCN3B_ENST00000299333.3_Missense_Mutation_p.T57S	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	57	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.T57S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCACCGTGGTGGCCTCCACC	0.587																																						uc001pza.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(169-171)ACC>TCC		voltage-gated sodium channel beta-3 subunit							130.0	129.0	129.0					11																	123516345		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516345T>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.169A>T	11.37:g.123516345T>A	ENSP00000376523:p.Thr57Ser					SCN3B_uc001pzb.1_Missense_Mutation_p.T57S	p.T57S	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	576	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	57			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.169A>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.678241	0.29783	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.249009	0.44902	N	0.000404	T	0.36853	0.0982	N	0.02916	-0.46	0.44092	D	0.996859	B	0.02656	0.0	B	0.04013	0.001	T	0.37267	-0.9713	10	0.08599	T	0.76	-6.702	16.2614	0.82549	0.0:0.0:0.0:1.0	.	57	Q9NY72	SCN3B_HUMAN	S	57	ENSP00000376523:T57S;ENSP00000299333:T57S;ENSP00000432785:T57S;ENSP00000435554:T57S;ENSP00000434363:T57S	ENSP00000299333:T57S	T	-	1	0	SCN3B	123021555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.288000	0.43514	2.230000	0.72887	0.496000	0.49642	ACC		PASS	0.587	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		30	138	30	138	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125523664	125523664	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:125523664G>T	ENST00000534070.1	+	12	1512	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	CHEK1_ENST00000428830.2_Missense_Mutation_p.R419S|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Intron|CHEK1_ENST00000278916.3_Missense_Mutation_p.R375S|CHEK1_ENST00000438015.1_Missense_Mutation_p.R419S|CHEK1_ENST00000524737.1_Missense_Mutation_p.R419S|CHEK1_ENST00000427383.2_Missense_Mutation_p.R435S	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	419	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.R419S(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CAACTGATAGGAGAAACAATA	0.303								Other conserved DNA damage response genes																														uc009zbo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(1255-1257)AGG>AGT	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							91.0	99.0	97.0					11																	125523664		2199	4293	6492	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125523664G>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1257G>T	11.37:g.125523664G>T	ENSP00000435371:p.Arg419Ser					CHEK1_uc010sbh.1_Missense_Mutation_p.R435S|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Missense_Mutation_p.R419S|CHEK1_uc009zbp.2_Missense_Mutation_p.R419S|CHEK1_uc001qcg.3_Missense_Mutation_p.R419S|CHEK1_uc009zbq.2_Missense_Mutation_p.R375S|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.R67S	p.R419S	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	12	2149	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	419			Autoinhibitory region.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.1257G>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985937	0.53934	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T	0.73575	-0.67;-0.37;-0.67;-0.67;-0.67;-0.76	5.47	-0.294	0.12831	.	0.053094	0.64402	D	0.000002	T	0.67692	0.2920	M	0.65498	2.005	0.80722	D	1	B;P;P	0.35124	0.138;0.485;0.485	B;B;B	0.34590	0.186;0.184;0.184	T	0.63238	-0.6682	10	0.48119	T	0.1	-18.211	9.7162	0.40276	0.5687:0.0:0.4313:0.0	.	435;419;419	E7EPP6;B5BTY6;O14757	.;.;CHK1_HUMAN	S	419;435;419;419;419;375	ENSP00000388648:R419S;ENSP00000391090:R435S;ENSP00000412504:R419S;ENSP00000435371:R419S;ENSP00000432890:R419S;ENSP00000278916:R375S	ENSP00000278916:R375S	R	+	3	2	CHEK1	125028874	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.607000	0.24209	0.031000	0.15407	0.650000	0.86243	AGG		PASS	0.303	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		27	155	27	155	---	---	---	---
RPUSD4	84881	broad.mit.edu	37	11	126075365	126075365	+	Missense_Mutation	SNP	G	G	A	rs149309585		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr11:126075365G>A	ENST00000298317.4	-	5	847	c.794C>T	c.(793-795)aCt>aTt	p.T265I	RPUSD4_ENST00000533628.1_Missense_Mutation_p.T234I|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	265					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.T265I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ACTCTCACCAGTGATGGGCTG	0.577																																						uc001qde.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(793-795)ACT>ATT		RNA pseudouridylate synthase domain containing 4		G	ILE/THR,ILE/THR	1,4401	2.1+/-5.4	0,1,2200	84.0	79.0	81.0		701,794	5.7	0.5	11	dbSNP_134	81	0,8598		0,0,4299	no	missense,missense	RPUSD4	NM_001144827.1,NM_032795.2	89,89	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	234/347,265/378	126075365	1,12999	2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075365G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.794C>T	11.37:g.126075365G>A	ENSP00000298317:p.Thr265Ile					RPUSD4_uc010sbl.1_Missense_Mutation_p.T72I|RPUSD4_uc009zbz.2_Missense_Mutation_p.T234I|RPUSD4_uc009zby.2_RNA	p.T265I	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	848	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	265					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.794C>T	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662177	0.67700	2.27E-4	0.0	ENSG00000165526	ENST00000298317;ENST00000533628	T;T	0.37235	1.21;1.21	5.72	5.72	0.89469	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	H	0.99026	4.405	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86181	0.1606	10	0.87932	D	0	-14.2987	17.0528	0.86524	0.0:0.0:1.0:0.0	.	234;265	E9PML2;Q96CM3	.;RUSD4_HUMAN	I	265;234	ENSP00000298317:T265I;ENSP00000433065:T234I	ENSP00000298317:T265I	T	-	2	0	RPUSD4	125580575	1.000000	0.71417	0.488000	0.27440	0.262000	0.26303	7.804000	0.85993	2.691000	0.91804	0.655000	0.94253	ACT		PASS	0.577	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		22	56	22	56	---	---	---	---
GALNT8	26290	broad.mit.edu	37	12	4874620	4874620	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:4874620C>A	ENST00000252318.2	+	10	2006	c.1669C>A	c.(1669-1671)Ctg>Atg	p.L557M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	557	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L557M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGATCGCTGCCTGACAGACCC	0.433																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1669-1671)CTG>ATG		polypeptide N-acetylgalactosaminyltransferase 8							109.0	105.0	106.0					12																	4874620		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874620C>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1669C>A	12.37:g.4874620C>A	ENSP00000252318:p.Leu557Met						p.L557M	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			10	1761	+			557			Ricin B-type lectin.|Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1669C>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154703	0.38021	.	.	ENSG00000130035	ENST00000252318	T	0.58358	0.34	4.04	1.16	0.20824	Ricin B-related lectin (1);Ricin B lectin (3);	0.099013	0.43416	D	0.000578	T	0.68302	0.2986	M	0.82716	2.605	0.25410	N	0.988367	D	0.89917	1.0	D	0.87578	0.998	T	0.58601	-0.7608	10	0.87932	D	0	.	6.2898	0.21053	0.0:0.6852:0.0:0.3148	.	557	Q9NY28	GALT8_HUMAN	M	557	ENSP00000252318:L557M	ENSP00000252318:L557M	L	+	1	2	GALNT8	4744881	0.483000	0.25956	0.975000	0.42487	0.361000	0.29550	-0.033000	0.12246	0.052000	0.16007	0.655000	0.94253	CTG		PASS	0.433	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		4	198	4	198	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5853393	5853393	+	Silent	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:5853393C>G	ENST00000356134.5	-	13	1343	c.1272G>C	c.(1270-1272)ggG>ggC	p.G424G	ANO2_ENST00000327087.8_Silent_p.G423G|ANO2_ENST00000546188.1_Silent_p.G424G	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	428					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G423G(1)|p.G424G(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCTGCGCGGTCCCACAGGCTG	0.537																																						uc001qnm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1267-1269)GGG>GGC		anoctamin 2							101.0	110.0	107.0					12																	5853393		2119	4234	6353	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853393C>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1272G>C	12.37:g.5853393C>G							p.G423G	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			12	1341	-			428			Extracellular (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1269G>C																																																																																					PASS	0.537	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		116	67	116	67	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6707131	6707131	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:6707131C>T	ENST00000357008.2	-	12	1984	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	CHD4_ENST00000544484.1_Silent_p.E604E|CHD4_ENST00000544040.1_Silent_p.E600E|CHD4_ENST00000309577.6_Silent_p.E607E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	607					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E607E(2)		central_nervous_system(2)	2						GTTCCTCCATCTCTGCAAATT	0.502																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(1819-1821)GAG>GAA		chromodomain helicase DNA binding protein 4							205.0	199.0	201.0					12																	6707131		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707131C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1821G>A	12.37:g.6707131C>T						CHD4_uc001qpn.2_Silent_p.E600E|CHD4_uc001qpp.2_Silent_p.E604E	p.E607E	NM_001273	NP_001264	Q14839	CHD4_HUMAN			12	1985	-			607					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.1821G>A	CCDS8552.1																																																																																				PASS	0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		68	511	68	511	---	---	---	---
TAS2R30	259293	broad.mit.edu	37	12	11286736	11286736	+	Silent	SNP	G	G	A	rs112605675		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:11286736G>A	ENST00000539585.1	-	1	507	c.108C>T	c.(106-108)gtC>gtT	p.V36V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.V36V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTGTCTCTTGACCCACTCAA	0.388																																						uc009zhs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)GTC>GTT		type 2 taste receptor member 30							67.0	66.0	66.0					12																	11286736		2014	4225	6239	SO:0001819	synonymous_variant	259293							g.chr12:11286736G>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.108C>T	12.37:g.11286736G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.V36V	NM_001097643	NP_001091112					1	108	-								Q645X7	Silent	SNP	ENST00000539585.1	37	c.108C>T	CCDS53750.1																																																																																				PASS	0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		25	186	25	186	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13214634	13214634	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:13214634G>C	ENST00000197268.8	+	4	778	c.658G>C	c.(658-660)Gct>Cct	p.A220P		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	220						integral component of membrane (GO:0016021)		p.A220P(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGGAAGCTTGGCTGAAACCAT	0.488																																						uc001rbi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(658-660)GCT>CCT		hypothetical protein LOC57613							98.0	84.0	89.0					12																	13214634		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13214634G>C	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.658G>C	12.37:g.13214634G>C	ENSP00000197268:p.Ala220Pro					KIAA1467_uc009zhx.1_RNA	p.A220P	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	4	681	+		Prostate(47;0.184)	220					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.658G>C	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791031	0.16258	.	.	ENSG00000084444	ENST00000197268	T	0.25085	1.82	5.58	5.58	0.84498	Quinonprotein alcohol dehydrogenase-like (1);	0.189278	0.46758	D	0.000274	T	0.27866	0.0686	M	0.69823	2.125	0.09310	N	0.999998	B	0.22146	0.065	B	0.22880	0.042	T	0.13388	-1.0511	10	0.34782	T	0.22	-12.5921	9.5115	0.39080	0.0744:0.1439:0.7817:0.0	.	220	A2RU67	K1467_HUMAN	P	220	ENSP00000197268:A220P	ENSP00000197268:A220P	A	+	1	0	KIAA1467	13105901	0.420000	0.25457	0.332000	0.25469	0.030000	0.12068	3.114000	0.50383	2.621000	0.88768	0.650000	0.86243	GCT		PASS	0.488	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		9	125	9	125	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15742454	15742454	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:15742454A>C	ENST00000281171.4	+	25	3806	c.3476A>C	c.(3475-3477)cAt>cCt	p.H1159P	PTPRO_ENST00000442921.2_Missense_Mutation_p.H348P|PTPRO_ENST00000544244.1_Missense_Mutation_p.H320P|PTPRO_ENST00000542557.1_Missense_Mutation_p.H320P|PTPRO_ENST00000445537.2_Missense_Mutation_p.H348P|PTPRO_ENST00000348962.2_Missense_Mutation_p.H1131P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1159	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.H1159P(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATTCGGGATCATGAGTTTGTT	0.443																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3475-3477)CAT>CCT		receptor-type protein tyrosine phosphatase O							192.0	173.0	180.0					12																	15742454		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742454A>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3476A>C	12.37:g.15742454A>C	ENSP00000281171:p.His1159Pro					PTPRO_uc001rcw.1_Missense_Mutation_p.H1131P|PTPRO_uc001rcx.1_Missense_Mutation_p.H348P|PTPRO_uc001rcy.1_Missense_Mutation_p.H348P|PTPRO_uc001rcz.1_Missense_Mutation_p.H320P|PTPRO_uc001rda.1_Missense_Mutation_p.H320P	p.H1159P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			25	3650	+		Hepatocellular(102;0.244)	1159			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3476A>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180512	0.78677	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000095	D	0.85691	0.5755	L	0.28608	0.87	0.58432	D	0.999999	B;D;D	0.89917	0.244;1.0;1.0	B;D;D	0.91635	0.44;0.999;0.999	D	0.85520	0.1203	10	0.39692	T	0.17	.	15.0452	0.71822	1.0:0.0:0.0:0.0	.	320;1131;1159	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	P	1159;1131;348;320;348;320	ENSP00000281171:H1159P;ENSP00000343434:H1131P;ENSP00000404188:H348P;ENSP00000437571:H320P;ENSP00000393449:H348P;ENSP00000439234:H320P	ENSP00000281171:H1159P	H	+	2	0	PTPRO	15633721	1.000000	0.71417	0.818000	0.32626	0.767000	0.43475	9.123000	0.94387	2.140000	0.66376	0.459000	0.35465	CAT		PASS	0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			89	349	89	349	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21327532	21327532	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:21327532T>G	ENST00000256958.2	+	4	344	c.248T>G	c.(247-249)tTt>tGt	p.F83C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	83					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F83C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGATTGTATTTGTGAGTTAC	0.358																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(247-249)TTT>TGT		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						177.0	159.0	165.0					12																	21327532		2202	4300	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21327532T>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.248T>G	12.37:g.21327532T>G	ENSP00000256958:p.Phe83Cys						p.F83C	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			4	352	+			83			Helical; Name=2; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.248T>G	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563781	0.65651	.	.	ENSG00000134538	ENST00000256958	T	0.60920	0.15	3.66	3.66	0.41972	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.245082	0.41396	D	0.000900	T	0.80037	0.4550	M	0.93550	3.43	0.42420	D	0.992633	D	0.89917	1.0	D	0.85130	0.997	D	0.84725	0.0742	10	0.87932	D	0	.	11.3015	0.49309	0.0:0.0:0.0:1.0	.	83	Q9Y6L6	SO1B1_HUMAN	C	83	ENSP00000256958:F83C	ENSP00000256958:F83C	F	+	2	0	SLCO1B1	21218799	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.047000	0.76599	1.656000	0.50722	0.254000	0.18369	TTT		PASS	0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		25	160	25	160	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26628297	26628297	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:26628297C>G	ENST00000381340.3	-	45	6690	c.6274G>C	c.(6274-6276)Gat>Cat	p.D2092H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2092					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.D2092H(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCACCCTCATCATCCCCATGG	0.373																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(6274-6276)GAT>CAT		inositol 1,4,5-triphosphate receptor, type 2							101.0	108.0	106.0					12																	26628297		1973	4171	6144	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628297C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6274G>C	12.37:g.26628297C>G	ENSP00000370744:p.Asp2092His					ITPR2_uc009zjg.1_Missense_Mutation_p.D243H	p.D2092H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			45	6691	-	Colorectal(261;0.0847)		2092			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6274G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029374	0.54790	.	.	ENSG00000123104	ENST00000381340	D	0.92299	-3.01	4.21	4.21	0.49690	.	0.403870	0.29205	N	0.012836	D	0.89185	0.6643	L	0.56769	1.78	0.80722	D	1	P	0.36733	0.567	B	0.36418	0.224	D	0.86718	0.1940	10	0.19147	T	0.46	.	14.8846	0.70557	0.0:1.0:0.0:0.0	.	2092	Q14571	ITPR2_HUMAN	H	2092	ENSP00000370744:D2092H	ENSP00000370744:D2092H	D	-	1	0	ITPR2	26519564	0.518000	0.26234	0.567000	0.28434	0.986000	0.74619	2.195000	0.42677	2.621000	0.88768	0.655000	0.94253	GAT		PASS	0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	166	13	166	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31286812	31286812	+	IGR	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:31286812C>A								RP11-551L14.1 (16407 upstream) : FAM60A (146705 downstream)														p.?(1)									CATATCCATACCTCTACTAAG	0.383																																						uc010sjy.1																			1	Unknown(1)		lung(1)								c.e19+1		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							127.0	112.0	117.0					12																	31286812		1849	4095	5944	SO:0001628	intergenic_variant	0							g.chr12:31286812C>A																													12.37:g.31286812C>A							p.E894_splice							19	2682	-									Splice_Site	SNP		37	c.2682_splice																																																																																				0	PASS	0.383									48	20	48	20	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31307356	31307356	+	IGR	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:31307356T>C								RP11-551L14.1 (36951 upstream) : FAM60A (126161 downstream)														p.K242E(2)									ATTTGGGTTTTCCCTTGCACA	0.383																																						uc010sjy.1																			2	Substitution - Missense(2)		lung(2)								c.(724-726)AAA>GAA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							69.0	69.0	69.0					12																	31307356		1841	4091	5932	SO:0001628	intergenic_variant	0							g.chr12:31307356T>C																													12.37:g.31307356T>C							p.K242E							7	724	-									Missense_Mutation	SNP		37	c.724A>G																																																																																				0	PASS	0.383									3	54	3	54	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40265601	40265601	+	Splice_Site	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:40265601T>C	ENST00000280871.4	-	5	1247	c.1197A>G	c.(1195-1197)gcA>gcG	p.A399A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	399					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.A380A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCACCTACCTGCTAAACTAC	0.373										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1195-1197)GCA>GCG		solute carrier family 2 (facilitated glucose							51.0	50.0	50.0					12																	40265601		2203	4300	6503	SO:0001630	splice_region_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40265601T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1198+1A>G	12.37:g.40265601T>C		HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.A46A	p.A399A	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			5	1248	-		Lung NSC(34;0.105)|all_lung(34;0.123)	399			Helical; Name=9; (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.1197A>G	CCDS8736.2																																																																																				PASS	0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		Silent	22	82	22	82	---	---	---	---
AQP6	363	broad.mit.edu	37	12	50368590	50368590	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:50368590G>C	ENST00000315520.5	+	3	960	c.623G>C	c.(622-624)gGg>gCg	p.G208A	AQP6_ENST00000551733.1_Missense_Mutation_p.G34A	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	208					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.G208A(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						ATCATCATTGGGAAGTTCACA	0.602											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)GGG>GCG		aquaporin 6							69.0	59.0	62.0					12																	50368590		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50368590G>C	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.623G>C	12.37:g.50368590G>C	ENSP00000320247:p.Gly208Ala		OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	AQP6_uc001rvp.1_Missense_Mutation_p.G34A|AQP6_uc001rvq.1_RNA	p.G208A	NM_001652	NP_001643	Q13520	AQP6_HUMAN			3	960	+			208			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000315520.5	37	c.623G>C	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708415	0.48517	.	.	ENSG00000086159	ENST00000551733;ENST00000315520	D;D	0.85013	-1.93;-1.93	4.27	4.27	0.50696	Aquaporin-like (2);	0.000000	0.51477	D	0.000087	D	0.91610	0.7349	M	0.88979	2.995	0.24037	N	0.996098	D	0.61697	0.99	P	0.58266	0.836	D	0.85567	0.1231	10	0.54805	T	0.06	-7.7838	14.0927	0.65002	0.0:0.0:1.0:0.0	.	208	Q13520	AQP6_HUMAN	A	34;208	ENSP00000449830:G34A;ENSP00000320247:G208A	ENSP00000320247:G208A	G	+	2	0	AQP6	48654857	0.175000	0.23083	0.595000	0.28798	0.821000	0.46438	2.953000	0.49105	2.383000	0.81215	0.591000	0.81541	GGG		PASS	0.602	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		14	38	14	38	---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841594	52841594	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:52841594G>T	ENST00000252252.3	-	7	1439	c.1392C>A	c.(1390-1392)acC>acA	p.T464T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	464	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.T464T(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCTTGCGGTAGGTGGCGATCT	0.597																																						uc001sak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1390-1392)ACC>ACA		keratin 6B							125.0	114.0	118.0					12																	52841594		2203	4300	6503	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841594G>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1392C>A	12.37:g.52841594G>T							p.T464T	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1440	-			464			Rod.|Coil 2.		P48669	Silent	SNP	ENST00000252252.3	37	c.1392C>A	CCDS8828.1																																																																																				PASS	0.597	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		72	111	72	111	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53804855	53804855	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:53804855C>A	ENST00000327443.4	+	6	2287	c.2189C>A	c.(2188-2190)gCa>gAa	p.A730E	SP1_ENST00000426431.2_Missense_Mutation_p.A723E	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	730	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A730E(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACAGTGGGGCAGGTTCAGAA	0.557																																						uc001scw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2188-2190)GCA>GAA		Sp1 transcription factor isoform a							118.0	109.0	112.0					12																	53804855		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804855C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2189C>A	12.37:g.53804855C>A	ENSP00000329357:p.Ala730Glu					SP1_uc010sog.1_Missense_Mutation_p.A723E	p.A730E	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2286	+			730			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2189C>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766739	0.49574	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08546	3.11;3.08	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000029	T	0.07728	0.0194	N	0.24115	0.695	0.44123	D	0.996904	B	0.26081	0.141	B	0.17722	0.019	T	0.26538	-1.0100	10	0.51188	T	0.08	.	17.707	0.88311	0.0:1.0:0.0:0.0	.	730	P08047	SP1_HUMAN	E	730;723	ENSP00000329357:A730E;ENSP00000404263:A723E	ENSP00000329357:A730E	A	+	2	0	SP1	52091122	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.159000	0.42339	2.793000	0.96121	0.563000	0.77884	GCA		PASS	0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			4	203	4	203	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759232	55759232	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:55759232T>C	ENST00000343399.3	+	1	338	c.338T>C	c.(337-339)cTg>cCg	p.L113P		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113P(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTTTACCTTCTGGCTGCCATG	0.448																																						uc010spk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(337-339)CTG>CCG		olfactory receptor, family 6, subfamily C,							128.0	120.0	123.0					12																	55759232		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759232T>C		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.338T>C	12.37:g.55759232T>C	ENSP00000368987:p.Leu113Pro						p.L113P	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	338	+			113			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.338T>C	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019936	0.75275	.	.	ENSG00000187857	ENST00000343399	T	0.07444	3.19	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32852	U	0.005569	T	0.45094	0.1325	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65195	-0.6227	10	0.87932	D	0	.	14.1569	0.65424	0.0:0.0:0.0:1.0	.	113	A6NL08	O6C75_HUMAN	P	113	ENSP00000368987:L113P	ENSP00000368987:L113P	L	+	2	0	OR6C75	54045499	0.845000	0.29573	0.990000	0.47175	0.997000	0.91878	5.640000	0.67875	2.210000	0.71456	0.528000	0.53228	CTG		PASS	0.448	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			31	121	31	121	---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68707531	68707531	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:68707531G>C	ENST00000303145.7	-	10	1588	c.1502C>G	c.(1501-1503)tCa>tGa	p.S501*	MDM1_ENST00000540418.1_Nonsense_Mutation_p.S221*|MDM1_ENST00000411698.2_Nonsense_Mutation_p.S466*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	501					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.S501*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AGAAGAATCTGACCTATAAAT	0.373																																						uc001stz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1501-1503)TCA>TGA		mouse Mdm1 nuclear protein homolog isoform 1							58.0	63.0	61.0					12																	68707531		2203	4300	6503	SO:0001587	stop_gained	56890					nucleus		g.chr12:68707531G>C	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1502C>G	12.37:g.68707531G>C	ENSP00000302537:p.Ser501*					MDM1_uc010stc.1_Nonsense_Mutation_p.S466*|MDM1_uc009zqv.1_Nonsense_Mutation_p.S221*	p.S501*	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	10	1638	-			501					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Nonsense_Mutation	SNP	ENST00000303145.7	37	c.1502C>G	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	37	6.023369	0.97211	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	.	.	.	4.98	4.98	0.66077	.	0.099099	0.43260	D	0.000592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.1663	12.0669	0.53594	0.0796:0.0:0.9204:0.0	.	.	.	.	X	221;501;466	.	.	S	-	2	0	MDM1	66993798	1.000000	0.71417	0.948000	0.38648	0.710000	0.40934	4.780000	0.62382	2.481000	0.83766	0.484000	0.47621	TCA		PASS	0.373	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		43	66	43	66	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72956688	72956688	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:72956688C>G	ENST00000261180.4	+	9	1871	c.1775C>G	c.(1774-1776)aCa>aGa	p.T592R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	592					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T592R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GATCAGTGGACACTCCAGATG	0.313																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1774-1776)ACA>AGA		thyrotropin-releasing hormone degrading enzyme							87.0	91.0	90.0					12																	72956688		2203	4294	6497	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956688C>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1775C>G	12.37:g.72956688C>G	ENSP00000261180:p.Thr592Arg						p.T592R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			9	1805	+			592			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1775C>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.708204|4.708204	0.89018|0.89018	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.05717	.|3.4	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38878|0.38878	0.1057|0.1057	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69307	.|0.963	T|T	0.48843|0.48843	-0.8999|-0.8999	5|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|592	.|Q9UKU6	.|TRHDE_HUMAN	E|R	179|592	.|ENSP00000261180:T592R	.|ENSP00000261180:T592R	D|T	+|+	3|2	2|0	TRHDE|TRHDE	71242955|71242955	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	6.135000|6.135000	0.71696|0.71696	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|ACA		PASS	0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		94	130	94	130	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99898341	99898341	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:99898341C>G	ENST00000547776.2	-	10	1350	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E451Q|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E31Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	451						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E451Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGAAAGTTCTCATTTTCTGAA	0.373																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)GAG>CAG		cajalin 2 isoform a							67.0	66.0	67.0					12																	99898341		1833	4084	5917	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99898341C>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1351G>C	12.37:g.99898341C>G	ENSP00000449629:p.Glu451Gln					ANKS1B_uc001tgf.1_Missense_Mutation_p.E31Q|ANKS1B_uc009ztt.1_Missense_Mutation_p.E417Q	p.E451Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	10	1768	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	451					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1351G>C	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285494	0.59867	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.67171	0.73;-0.25;0.73;0.43	5.68	5.68	0.88126	.	0.066414	0.64402	D	0.000019	T	0.68961	0.3058	L	0.29908	0.895	0.80722	D	1	D;P;B	0.54207	0.965;0.906;0.155	P;P;B	0.55871	0.786;0.677;0.127	T	0.65796	-0.6081	9	.	.	.	-0.8265	17.9587	0.89078	0.0:1.0:0.0:0.0	.	417;31;451	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Q	451;31;451;30;417	ENSP00000449629:E451Q;ENSP00000448512:E31Q;ENSP00000331381:E451Q;ENSP00000449894:E417Q	.	E	-	1	0	ANKS1B	98422472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.507000	0.53371	2.694000	0.91930	0.650000	0.86243	GAG		PASS	0.373	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		32	30	32	30	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120622646	120622646	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:120622646A>C	ENST00000300648.6	-	3	178	c.166T>G	c.(166-168)Ttg>Gtg	p.L56V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	56					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.L56V(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCAGAGTCAAGCAGAACAAT	0.483																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(166-168)TTG>GTG		GCN1 general control of amino-acid synthesis							91.0	89.0	89.0					12																	120622646		1947	4142	6089	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120622646A>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.166T>G	12.37:g.120622646A>C	ENSP00000300648:p.Leu56Val						p.L56V	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			3	179	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		56					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.166T>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319734	0.60524	.	.	ENSG00000089154	ENST00000300648	T	0.00695	5.83	5.87	-1.66	0.08265	.	0.071551	0.56097	D	0.000038	T	0.00724	0.0024	L	0.29908	0.895	0.46028	D	0.998824	D	0.53151	0.958	B	0.43536	0.423	T	0.74340	-0.3697	10	0.23302	T	0.38	-8.0603	11.3535	0.49602	0.515:0.0:0.485:0.0	.	56	Q92616	GCN1L_HUMAN	V	56	ENSP00000300648:L56V	ENSP00000300648:L56V	L	-	1	2	GCN1L1	119107029	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	0.599000	0.24089	-0.065000	0.13021	-0.561000	0.04177	TTG		PASS	0.483	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			8	140	8	140	---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133435727	133435727	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr12:133435727C>A	ENST00000432561.2	-	8	947	c.874G>T	c.(874-876)Gct>Tct	p.A292S	CHFR_ENST00000315585.7_Missense_Mutation_p.A251S|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000266880.7_Missense_Mutation_p.A292S|CHFR_ENST00000443047.2_Missense_Mutation_p.A200S|CHFR_ENST00000450056.2_Missense_Mutation_p.A280S			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	292					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A292S(1)|p.A251S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGCTTCCCAGCCGCTGCTCTG	0.592																																						uc001ulf.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(874-876)GCT>TCT		checkpoint with forkhead and ring finger domains							209.0	123.0	152.0					12																	133435727		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133435727C>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.874G>T	12.37:g.133435727C>A	ENSP00000392395:p.Ala292Ser					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A280S|CHFR_uc010tbs.1_Missense_Mutation_p.A292S|CHFR_uc001uld.2_Missense_Mutation_p.A251S|CHFR_uc010tbt.1_Missense_Mutation_p.A200S	p.A292S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	8	958	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	292					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.874G>T	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	2.762	-0.257649	0.05791	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.49	-3.7	0.04437	Zinc finger, RING/FYVE/PHD-type (1);	0.631670	0.17164	N	0.184539	T	0.38878	0.1057	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.0;0.001;0.002	B;B;B;B;B	0.13407	0.009;0.006;0.003;0.005;0.008	T	0.29549	-1.0008	10	0.10902	T	0.67	-0.9556	5.4205	0.16398	0.2291:0.2398:0.0:0.5311	.	200;292;292;280;251	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	S	251;200;280;292;92;292	ENSP00000320557:A251S;ENSP00000416431:A200S;ENSP00000398735:A280S;ENSP00000266880:A292S;ENSP00000392395:A292S	ENSP00000266880:A292S	A	-	1	0	CHFR	131945800	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.538000	0.23160	-0.888000	0.03956	-0.797000	0.03246	GCT		PASS	0.592	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			39	40	39	40	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26434350	26434350	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:26434350G>T	ENST00000381655.2	+	31	3116	c.2974G>T	c.(2974-2976)Ggt>Tgt	p.G992C	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G927C	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	952					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G992C(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTTGACAAGTGGTCATGCTAC	0.358																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2974-2976)GGT>TGT		ATPase, aminophospholipid transporter-like,							193.0	175.0	181.0					13																	26434350		1860	4116	5976	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26434350G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2974G>T	13.37:g.26434350G>T	ENSP00000371070:p.Gly992Cys					ATP8A2_uc010tdi.1_Missense_Mutation_p.G927C|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G542C	p.G992C	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	31	3116	+		Breast(139;0.0201)|Lung SC(185;0.0225)	952			Extracellular (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2974G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139532	0.77775	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.71698	-0.59;-0.59	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94306	0.7541	10	0.87932	D	0	.	18.9445	0.92616	0.0:0.0:1.0:0.0	.	927;772;952	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	C	992;927;772	ENSP00000371070:G992C;ENSP00000255283:G927C	ENSP00000255283:G927C	G	+	1	0	ATP8A2	25332350	1.000000	0.71417	0.853000	0.33588	0.046000	0.14306	6.144000	0.71762	2.768000	0.95171	0.655000	0.94253	GGT		PASS	0.358	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		10	96	10	96	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32711022	32711022	+	Silent	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:32711022G>T	ENST00000380250.3	+	11	1588	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L364L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTACCCCCTGGTGACCTGTT	0.458																																						uc001utx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1090-1092)CTG>CTT		furry homolog							129.0	130.0	130.0					13																	32711022		1955	4135	6090	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32711022G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1092G>T	13.37:g.32711022G>T						FRY_uc010tdw.1_RNA	p.L364L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	11	1588	+		Lung SC(185;0.0271)	364					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.1092G>T	CCDS41875.1																																																																																				PASS	0.458	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		15	100	15	100	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986903	61986903	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:61986903T>C	ENST00000409186.1	-	5	3434	c.1329A>G	c.(1327-1329)gaA>gaG	p.E443E	PCDH20_ENST00000409204.4_Silent_p.E443E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	443	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E443E(1)|p.E416E(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGGGTTCCAGTTCTTTCAGAT	0.423																																						uc001vid.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1327-1329)GAA>GAG		protocadherin 20							105.0	107.0	106.0					13																	61986903		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986903T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1329A>G	13.37:g.61986903T>C						PCDH20_uc010thj.1_Silent_p.E443E	p.E443E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1693	-		Breast(118;0.195)|Prostate(109;0.229)	416			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1329A>G	CCDS9442.2																																																																																				PASS	0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		8	99	8	99	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986932	61986932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:61986932C>A	ENST00000409186.1	-	5	3405	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.E434*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	434	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E434*(1)|p.E407*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCATCTATCTCGTTTGCTATG	0.418																																						uc001vid.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1300-1302)GAG>TAG		protocadherin 20							106.0	109.0	108.0					13																	61986932		2203	4300	6503	SO:0001587	stop_gained	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986932C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1300G>T	13.37:g.61986932C>A	ENSP00000386653:p.Glu434*					PCDH20_uc010thj.1_Nonsense_Mutation_p.E434*	p.E434*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1664	-		Breast(118;0.195)|Prostate(109;0.229)	407			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP	ENST00000409186.1	37	c.1300G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	40	7.937718	0.98571	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	5.9	5.05	0.67936	.	0.089063	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	17.113	0.86681	0.0:0.8733:0.1267:0.0	.	.	.	.	X	434;434;180	.	ENSP00000351500:E180X	E	-	1	0	PCDH20	60884933	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.738000	0.68613	1.498000	0.48600	0.650000	0.86243	GAG		PASS	0.418	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		21	102	21	102	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75936724	75936724	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:75936724C>T	ENST00000377636.3	-	2	864	c.518G>A	c.(517-519)aGc>aAc	p.S173N	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S173N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S173N	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	173	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.S173N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGCCTTATGCTGCTAATAAC	0.393																																						uc001vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(517-519)AGC>AAC		TBC1 domain family, member 4							126.0	119.0	121.0					13																	75936724		1829	4084	5913	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936724C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.518G>A	13.37:g.75936724C>T	ENSP00000366863:p.Ser173Asn					TBC1D4_uc010aer.2_Missense_Mutation_p.S173N|TBC1D4_uc010aes.2_Missense_Mutation_p.S173N	p.S173N	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	865	-		Prostate(6;0.014)|Breast(118;0.0982)	173			PID 1.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.518G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815731	0.70912	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.16196	2.36;2.36;2.36	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.53249	1.67	0.80722	D	1	B;B;P	0.34977	0.296;0.423;0.478	B;B;B	0.36959	0.16;0.153;0.237	T	0.01570	-1.1322	10	0.44086	T	0.13	-21.7198	19.1098	0.93312	0.0:1.0:0.0:0.0	.	173;173;173	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	N	173	ENSP00000366863:S173N;ENSP00000395986:S173N;ENSP00000366852:S173N	ENSP00000366852:S173N	S	-	2	0	TBC1D4	74834725	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.773000	0.68898	2.518000	0.84900	0.557000	0.71058	AGC		PASS	0.393	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	293	4	293	---	---	---	---
SLC10A2	6555	broad.mit.edu	37	13	103718330	103718330	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:103718330A>G	ENST00000245312.3	-	1	866	c.270T>C	c.(268-270)ttT>ttC	p.F90F		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	90					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.F90F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGAGGATGTCAAAGGCCACCG	0.542																																						uc001vpy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(268-270)TTT>TTC		solute carrier family 10 (sodium/bile acid							104.0	100.0	101.0					13																	103718330		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718330A>G	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.270T>C	13.37:g.103718330A>G							p.F90F	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			1	867	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		90			Helical; (Potential).		A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.270T>C	CCDS9506.1																																																																																				PASS	0.542	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			15	127	15	127	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110804799	110804799	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr13:110804799A>T	ENST00000375820.4	-	51	4931	c.4810T>A	c.(4810-4812)Tgc>Agc	p.C1604S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1604	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.C1247S(1)|p.C1604S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTCCAGGCAGGAGCCGGGG	0.597																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(4810-4812)TGC>AGC		alpha 1 type IV collagen preproprotein							52.0	45.0	47.0					13																	110804799		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110804799A>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4810T>A	13.37:g.110804799A>T	ENSP00000364979:p.Cys1604Ser					COL4A1_uc010agl.2_Intron	p.C1604S	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		51	4932	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1604			Collagen IV NC1.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.4810T>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755820	0.89843	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99724	-6.54	5.51	5.51	0.81932	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96590	0.9437	10	0.87932	D	0	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	1604	P02462	CO4A1_HUMAN	S	1247;1604;1253	ENSP00000364979:C1604S	ENSP00000364973:C1247S	C	-	1	0	COL4A1	109602800	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	8.999000	0.93557	2.095000	0.63458	0.528000	0.53228	TGC		PASS	0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			11	38	11	38	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296181	20296181	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:20296181A>G	ENST00000315947.1	+	1	574	c.574A>G	c.(574-576)Aca>Gca	p.T192A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCACCGACACATTTGTGGT	0.537																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(574-576)ACA>GCA		olfactory receptor, family 4, subfamily N,							147.0	148.0	148.0					14																	20296181		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296181A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.574A>G	14.37:g.20296181A>G	ENSP00000319601:p.Thr192Ala						p.T192A	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	574	+	all_cancers(95;0.00108)		192			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.574A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	9.398	1.077274	0.20227	.	.	ENSG00000176294	ENST00000315947	T	0.00235	8.48	4.52	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.00328	0.0010	M	0.86502	2.82	0.09310	N	1	B	0.29671	0.254	B	0.37346	0.247	T	0.11542	-1.0583	10	0.72032	D	0.01	-21.0064	8.055	0.30600	0.8995:0.0:0.1005:0.0	.	192	Q8NGD1	OR4N2_HUMAN	A	192	ENSP00000319601:T192A	ENSP00000319601:T192A	T	+	1	0	OR4N2	19366021	0.005000	0.15991	0.987000	0.45799	0.156000	0.22039	2.332000	0.43903	2.008000	0.58898	0.477000	0.44152	ACA		PASS	0.537	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			26	307	26	307	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404520	20404520	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:20404520G>T	ENST00000285600.4	+	1	754	c.695G>T	c.(694-696)gGg>gTg	p.G232V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCCTCCAGTGGGTCATCTAAG	0.433																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(694-696)GGG>GTG		olfactory receptor, family 4, subfamily K,							129.0	121.0	124.0					14																	20404520		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404520G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.695G>T	14.37:g.20404520G>T	ENSP00000285600:p.Gly232Val						p.G232V	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	695	+	all_cancers(95;0.00108)		232			Cytoplasmic (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.695G>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.043999	0.55110	.	.	ENSG00000155249	ENST00000285600	T	0.00299	8.22	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.00936	0.0031	H	0.95780	3.72	0.51012	D	0.999906	D	0.53745	0.962	P	0.59171	0.853	T	0.52734	-0.8536	10	0.72032	D	0.01	.	15.7308	0.77804	0.0:0.0:1.0:0.0	.	232	Q8NGD4	OR4K1_HUMAN	V	232	ENSP00000285600:G232V	ENSP00000285600:G232V	G	+	2	0	OR4K1	19474360	0.726000	0.28059	0.995000	0.50966	0.687000	0.40016	1.292000	0.33342	2.575000	0.86900	0.563000	0.77884	GGG		PASS	0.433	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			30	210	30	210	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23894206	23894206	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:23894206G>A	ENST00000355349.3	-	22	2613	c.2451C>T	c.(2449-2451)aaC>aaT	p.N817N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	817					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.N817N(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGCCCGAATGTTCCACTGGA	0.542																																						uc001wjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2449-2451)AAC>AAT		myosin, heavy chain 7, cardiac muscle, beta							66.0	67.0	67.0					14																	23894206		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894206G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2451C>T	14.37:g.23894206G>A							p.N817N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2557	-	all_cancers(95;2.54e-05)		817					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2451C>T	CCDS9601.1																																																																																				PASS	0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		34	107	34	107	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31058674	31058674	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:31058674A>G	ENST00000206595.6	+	4	375	c.221A>G	c.(220-222)aAt>aGt	p.N74S	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.N104S|G2E3_ENST00000438909.2_Missense_Mutation_p.N28S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	74					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N74S(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGGAAGTGAATAGAGCTTCT	0.308																																						uc001wqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(220-222)AAT>AGT		G2/M-phase specific E3 ubiquitin ligase							95.0	104.0	101.0					14																	31058674		2203	4296	6499	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31058674A>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.221A>G	14.37:g.31058674A>G	ENSP00000206595:p.Asn74Ser					G2E3_uc010tpe.1_Missense_Mutation_p.N28S|G2E3_uc010tpf.1_Missense_Mutation_p.N28S	p.N74S	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			4	375	+			74					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.221A>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601460	0.28534	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532;ENST00000555429	T;T;T;T;T;T;D	0.88046	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-2.33	5.63	3.27	0.37495	.	0.278145	0.46442	D	0.000286	T	0.73434	0.3586	N	0.12746	0.255	0.23287	N	0.997971	B;B	0.06786	0.0;0.001	B;B	0.14578	0.007;0.011	T	0.52660	-0.8546	10	0.11182	T	0.66	-5.9078	12.3976	0.55393	0.7212:0.2788:0.0:0.0	.	28;74	B4DIF9;Q7L622	.;G2E3_HUMAN	S	74;74;28;104;74;74;74	ENSP00000206595:N74S;ENSP00000448745:N74S;ENSP00000391068:N28S;ENSP00000451653:N104S;ENSP00000451147:N74S;ENSP00000446615:N74S;ENSP00000452275:N74S	ENSP00000206595:N74S	N	+	2	0	G2E3	30128425	0.996000	0.38824	0.897000	0.35233	0.987000	0.75469	2.141000	0.42168	0.415000	0.25817	0.482000	0.46254	AAT		PASS	0.308	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		42	172	42	172	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360885	42360885	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:42360885C>A	ENST00000298119.4	+	4	3007	c.1818C>A	c.(1816-1818)acC>acA	p.T606T	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	606						integral component of membrane (GO:0016021)		p.T606T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTAAAGCTACCAGTGACAATG	0.493										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1816-1818)ACC>ACA		leucine rich repeat and fibronectin type III							138.0	112.0	121.0					14																	42360885		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360885C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1818C>A	14.37:g.42360885C>A		HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.T606T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3016	+			606			Cytoplasmic (Potential).		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1818C>A	CCDS9678.1																																																																																				PASS	0.493	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	55	12	55	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45636188	45636188	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:45636188A>G	ENST00000267430.5	+	11	1909	c.1824A>G	c.(1822-1824)atA>atG	p.I608M	FANCM_ENST00000542564.2_Missense_Mutation_p.I582M|FANCM_ENST00000556036.1_Missense_Mutation_p.I608M	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	608	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.I608M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAAGTATATATAAAGCTA	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(1822-1824)ATA>ATG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							84.0	96.0	92.0					14																	45636188		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45636188A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1824A>G	14.37:g.45636188A>G	ENSP00000267430:p.Ile608Met					FANCM_uc001wwc.2_Missense_Mutation_p.I608M|FANCM_uc010anf.2_Missense_Mutation_p.I582M|FANCM_uc001wwe.3_Missense_Mutation_p.I144M	p.I608M	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			11	1923	+			608			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1824A>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203033	0.38905	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.30448	2.63;2.61;2.63;1.53	5.61	3.23	0.37069	Helicase, C-terminal (1);	0.248330	0.41938	D	0.000785	T	0.25717	0.0626	N	0.21583	0.68	0.40578	D	0.98136	P;P;P	0.45634	0.863;0.863;0.575	P;P;B	0.51582	0.576;0.674;0.312	T	0.08848	-1.0702	10	0.52906	T	0.07	.	3.432	0.07432	0.1684:0.2694:0.0:0.5622	.	582;608;608	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	M	608;608;582;124	ENSP00000450596:I608M;ENSP00000267430:I608M;ENSP00000442493:I582M;ENSP00000452033:I124M	ENSP00000267430:I608M	I	+	3	3	FANCM	44705938	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	0.634000	0.24614	0.493000	0.27837	-0.648000	0.03929	ATA		PASS	0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		3	243	3	243	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58820393	58820393	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:58820393A>G	ENST00000355431.3	+	17	2046	c.1673A>G	c.(1672-1674)aAa>aGa	p.K558R	ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000395168.3_Missense_Mutation_p.K558R|ARID4A_ENST00000431317.2_Missense_Mutation_p.K558R|ARID4A_ENST00000348476.3_Missense_Mutation_p.K558R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	558					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K558R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTGAAAGCAAATGTGACTCT	0.363																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(1672-1674)AAA>AGA		retinoblastoma-binding protein 1 isoform I							78.0	81.0	80.0					14																	58820393		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58820393A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1673A>G	14.37:g.58820393A>G	ENSP00000347602:p.Lys558Arg					ARID4A_uc001xdo.2_Missense_Mutation_p.K558R|ARID4A_uc001xdq.2_Missense_Mutation_p.K558R|ARID4A_uc010apg.1_Missense_Mutation_p.K236R	p.K558R	NM_002892	NP_002883	P29374	ARI4A_HUMAN			17	1927	+			558					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1673A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	9.331	1.060558	0.19987	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.41758	0.99;2.43;2.45;2.43;2.49	6.08	2.51	0.30379	.	0.246399	0.40385	N	0.001103	T	0.21307	0.0513	N	0.11560	0.145	0.29485	N	0.856079	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.14578	0.007;0.005;0.011	T	0.15549	-1.0433	10	0.23302	T	0.38	-16.0421	9.1619	0.37028	0.7246:0.0:0.2754:0.0	.	558;558;558	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	R	558;558;558;558;236	ENSP00000347602:K558R;ENSP00000344556:K558R;ENSP00000378597:K558R;ENSP00000397368:K558R;ENSP00000416053:K236R	ENSP00000344556:K558R	K	+	2	0	ARID4A	57890146	1.000000	0.71417	0.997000	0.53966	0.644000	0.38419	2.012000	0.40932	0.200000	0.20447	-0.326000	0.08463	AAA		PASS	0.363	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		23	83	23	83	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58915141	58915141	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:58915141C>T	ENST00000556134.1	+	8	1120	c.846C>T	c.(844-846)tcC>tcT	p.S282S	KIAA0586_ENST00000261244.5_Silent_p.S297S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.S350S|KIAA0586_ENST00000423743.3_Silent_p.S253S	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	282					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S350S(1)|p.S297S(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAAGTATTCCGTAAAACCAG	0.353																																						uc001xdv.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(889-891)TCC>TCT		talpid3 protein							88.0	85.0	86.0					14																	58915141		1841	4092	5933	SO:0001819	synonymous_variant	9786							g.chr14:58915141C>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.846C>T	14.37:g.58915141C>T						KIAA0586_uc010trr.1_Silent_p.S338S|KIAA0586_uc001xdt.3_Silent_p.S253S|KIAA0586_uc001xdu.3_Silent_p.S282S|KIAA0586_uc010trs.1_Silent_p.S212S|KIAA0586_uc010trt.1_Silent_p.S157S|KIAA0586_uc010tru.1_Silent_p.S157S	p.S297S	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			7	1164	+			297					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.891C>T	CCDS58321.1																																																																																				PASS	0.353	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		37	96	37	96	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545633	94545633	+	Silent	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:94545633T>A	ENST00000330836.5	-	2	587	c.456A>T	c.(454-456)ccA>ccT	p.P152P	IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_Silent_p.P109P|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	152					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.P152P(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCTTCTTTTTTGGAGCAGTTT	0.478																																						uc001ycj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(454-456)CCA>CCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							82.0	87.0	86.0					14																	94545633		2203	4300	6503	SO:0001819	synonymous_variant	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545633T>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.456A>T	14.37:g.94545633T>A						DDX24_uc010twq.1_Silent_p.P109P|DDX24_uc010twr.1_Intron|IFI27L1_uc001ycl.2_5'Flank|IFI27L1_uc001yck.2_5'Flank	p.P152P	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	555	-		all_cancers(154;0.12)	152					E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	c.456A>T	CCDS9918.1																																																																																				PASS	0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		34	163	34	163	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95033443	95033443	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:95033443C>A	ENST00000557004.1	+	3	1207	c.786C>A	c.(784-786)ccC>ccA	p.P262P	SERPINA4_ENST00000298841.5_Silent_p.P262P|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.P262P			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	262					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P262P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GATACTTGCCCTGCTCGGTGC	0.493																																						uc001ydk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(784-786)CCC>CCA		serine (or cysteine) proteinase inhibitor, clade							114.0	99.0	104.0					14																	95033443		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033443C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.786C>A	14.37:g.95033443C>A						SERPINA4_uc010avd.2_Silent_p.P299P|SERPINA4_uc001ydl.2_Silent_p.P262P	p.P262P	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	852	+			262					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.786C>A	CCDS9927.1																																																																																				PASS	0.493	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		12	78	12	78	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110201	106110201	+	RNA	SNP	C	C	T	rs368077478		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:106110201C>T	ENST00000390545.2	-	0	416							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCACCACGCACGTGACCTCAG	0.607																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.		T		0,4194		0,0,2097	127.0	114.0	118.0			-4.3	0.1	14		118	1,8455		0,1,4227	no	intergenic				0,1,6324	TT,TC,CC		0.0118,0.0,0.0079			106110201	1,12649	2097	4228	6325			8755							g.chr14:106110201C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110201C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA								3642		-								A6NE66	RNA	SNP	ENST00000390545.2	37	c.61050G>A																																																																																					PASS	0.607	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		28	64	28	64	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106174934	106174934	+	RNA	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:106174934G>A	ENST00000390547.2	-	0	68							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGCAGGCGATGACCACGTTCC	0.647																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							46.0	60.0	55.0					14																	106174934		2091	4230	6321			8755							g.chr14:106174934G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174934G>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron								3631		-									RNA	SNP	ENST00000390547.2	37	c.59400C>T																																																																																					PASS	0.647	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		4	79	4	79	---	---	---	---
IGHV3-13	28449	broad.mit.edu	37	14	106586173	106586173	+	RNA	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr14:106586173C>A	ENST00000390602.2	-	0	391									immunoglobulin heavy variable 3-13																		CCCCGGCTCTCAGGCTGTTCA	0.522																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							101.0	96.0	97.0					14																	106586173		1893	4113	6006			8755							g.chr14:106586173C>A	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586173C>A						uc001ysv.2_RNA								1286		-									RNA	SNP	ENST00000390602.2	37	c.28057G>T																																																																																					PASS	0.522	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		51	128	51	128	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369097	22369097	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:22369097A>G	ENST00000332663.2	+	1	620	c.522A>G	c.(520-522)ttA>ttG	p.L174L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L174L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCAATGAGTTAGACAGTTACT	0.502																																						uc010tzu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(520-522)TTA>TTG		olfactory receptor, family 4, subfamily M,							300.0	243.0	263.0					15																	22369097		2203	4297	6500	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369097A>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.522A>G	15.37:g.22369097A>G						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.L174L	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	522	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	174			Extracellular (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.522A>G	CCDS32172.1																																																																																				PASS	0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			31	486	31	486	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22868847	22868847	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:22868847C>T	ENST00000283645.4	+	20	2849	c.2719C>T	c.(2719-2721)Cac>Tac	p.H907Y	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.H907Y	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	907					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.H907Y(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAAGATTCTACACAGTACAGG	0.403																																						uc001yur.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2719-2721)CAC>TAC		tubulin, gamma complex associated protein 5							104.0	96.0	99.0					15																	22868847		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22868847C>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2719C>T	15.37:g.22868847C>T	ENSP00000283645:p.His907Tyr					TUBGCP5_uc001yuq.2_Missense_Mutation_p.H907Y	p.H907Y	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	20	2849	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	907					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.2719C>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841161	0.51057	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08458	3.09;3.09	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43152	1.355	0.80722	D	1	P;P	0.44776	0.716;0.843	P;P	0.47891	0.479;0.56	T	0.00915	-1.1516	10	0.37606	T	0.19	-20.9722	19.0978	0.93260	0.0:1.0:0.0:0.0	.	907;907	Q96RT8;E9PB12	GCP5_HUMAN;.	Y	907	ENSP00000283645:H907Y;ENSP00000409217:H907Y	ENSP00000283645:H907Y	H	+	1	0	TUBGCP5	20420288	1.000000	0.71417	0.990000	0.47175	0.259000	0.26198	7.131000	0.77243	2.735000	0.93741	0.655000	0.94253	CAC		PASS	0.403	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		31	74	31	74	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34032171	34032171	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:34032171G>A	ENST00000389232.4	+	51	7865	c.7795G>A	c.(7795-7797)Gac>Aac	p.D2599N	RYR3_ENST00000415757.3_Missense_Mutation_p.D2599N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2599	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D2599N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCAACTTTGACCCAAAACC	0.458																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7795-7797)GAC>AAC		ryanodine receptor 3							98.0	93.0	95.0					15																	34032171		1970	4147	6117	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34032171G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7795G>A	15.37:g.34032171G>A	ENSP00000373884:p.Asp2599Asn					RYR3_uc010bar.2_Missense_Mutation_p.D2599N	p.D2599N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	51	7865	+		all_lung(180;7.18e-09)	2599			3.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7795G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286032	0.80803	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91464	-2.85;-2.85	5.55	5.55	0.83447	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	L	0.28694	0.88	0.80722	D	1	P;B	0.46656	0.882;0.046	P;B	0.57204	0.815;0.146	D	0.86833	0.2012	10	0.15952	T	0.53	.	19.6941	0.96016	0.0:0.0:1.0:0.0	.	2599;2599	Q15413-2;Q15413	.;RYR3_HUMAN	N	2599	ENSP00000373884:D2599N;ENSP00000399610:D2599N	ENSP00000354735:D2599N	D	+	1	0	RYR3	31819463	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.230000	0.72301	2.885000	0.99019	0.655000	0.94253	GAC		PASS	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	27	14	27	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35083437	35083437	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:35083437C>A	ENST00000290378.4	-	6	1523	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	290					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.D290Y(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGCGGATATCAATGTCACAC	0.468																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(868-870)GAT>TAT		cardiac muscle alpha actin 1 proprotein							291.0	250.0	264.0					15																	35083437		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35083437C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.868G>T	15.37:g.35083437C>A	ENSP00000290378:p.Asp290Tyr					uc001zit.1_Intron	p.D290Y	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	6	1111	-		all_lung(180;2.3e-08)	290					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.868G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901323	0.72754	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.98221	-4.8	5.49	5.49	0.81192	.	0.000000	0.53938	U	0.000056	D	0.99393	0.9786	H	0.96662	3.86	0.80722	D	1	D	0.60160	0.987	D	0.80764	0.994	D	0.98519	1.0622	10	0.87932	D	0	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	290	P68032	ACTC_HUMAN	Y	290;255	ENSP00000290378:D290Y	ENSP00000290378:D290Y	D	-	1	0	ACTC1	32870729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.624000	0.83124	2.736000	0.93811	0.655000	0.94253	GAT		PASS	0.468	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		34	276	34	276	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43690255	43690255	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:43690255A>G	ENST00000260383.7	+	13	1553	c.1299A>G	c.(1297-1299)agA>agG	p.R433R	TUBGCP4_ENST00000564079.1_Silent_p.R432R|TUBGCP4_ENST00000399460.3_Silent_p.R297R			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	433					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.R432R(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTCAGGCAAGAGAAGGGCCTT	0.443																																						uc001zro.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1297-1299)AGA>AGG		tubulin, gamma complex associated protein 4							92.0	92.0	92.0					15																	43690255		1818	4070	5888	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43690255A>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1299A>G	15.37:g.43690255A>G						TUBGCP4_uc001zrn.2_Silent_p.R432R|TUBGCP4_uc010bdh.2_RNA	p.R433R	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	13	1539	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	433					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.1299A>G																																																																																					PASS	0.443	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		87	142	87	142	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43896852	43896852	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:43896852G>C	ENST00000450892.2	-	20	4200	c.4123C>G	c.(4123-4125)Ctt>Gtt	p.L1375V	STRC_ENST00000541030.1_Missense_Mutation_p.L602V|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1375					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.L1375V(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCATACCCAAGAACAGACTCC	0.507																																						uc001zsf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4123-4125)CTT>GTT		stereocilin precursor							48.0	50.0	49.0					15																	43896852		2199	4295	6494	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43896852G>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4123C>G	15.37:g.43896852G>C	ENSP00000401513:p.Leu1375Val					STRC_uc010bdl.2_Missense_Mutation_p.L602V|STRC_uc001zse.2_5'UTR	p.L1375V	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	20	4201	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1375						Missense_Mutation	SNP	ENST00000450892.2	37	c.4123C>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214050	0.58452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.80738	-1.41;-1.29	5.07	2.12	0.27331	.	0.100570	0.41823	D	0.000817	T	0.76314	0.3970	L	0.29908	0.895	0.80722	D	1	D;B	0.63880	0.993;0.02	P;B	0.58520	0.84;0.027	T	0.72679	-0.4220	10	0.44086	T	0.13	.	4.8163	0.13369	0.1879:0.1779:0.6342:0.0	.	602;1375	F5GXA4;Q7RTU9	.;STRC_HUMAN	V	1375;1375;602	ENSP00000401513:L1375V;ENSP00000440413:L602V	ENSP00000299992:L1375V	L	-	1	0	STRC	41684144	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.269000	0.43346	0.818000	0.34468	0.556000	0.70494	CTT		PASS	0.507	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		4	108	4	108	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72020962	72020963	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:72020962_72020963GG>TA	ENST00000355327.3	+	9	1566_1567	c.1432_1433GG>TA	c.(1432-1434)GGa>TAa	p.G478*	THSD4_ENST00000357769.4_Nonsense_Mutation_p.G118*|THSD4_ENST00000261862.6_Nonsense_Mutation_p.G478*|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	478					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.G478*(2)|p.G478E(1)|p.G478V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATACGAGGGCGGAGGGACCATG	0.505																																						uc002atb.1																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(2)	2						c.(1432-1434)GGA>TGA|c.(1432-1434)GGA>GAA		thrombospondin, type I, domain containing 4																																				SO:0001587	stop_gained	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020962G>T|g.chr15:72020963G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	Exception_encountered	15.37:g.72020962_72020963delinsTA	ENSP00000347484:p.Gly478*					THSD4_uc002atd.1_Nonsense_Mutation_p.G152*|THSD4_uc010ukg.1_Nonsense_Mutation_p.G118*|THSD4_uc002ate.2_Nonsense_Mutation_p.G118*|THSD4_uc002atd.1_Missense_Mutation_p.G152E|THSD4_uc010ukg.1_Missense_Mutation_p.G118E|THSD4_uc002ate.2_Missense_Mutation_p.G118E	p.G478*|p.G478E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			8	1511|1512	+			478					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000355327.3	37	c.1432G>T|c.1433G>A	CCDS10238.2																																																																																				PASS	0.505	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		29|31	223|222	29	222	---	---	---	---
CSK	1445	broad.mit.edu	37	15	75091700	75091700	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:75091700C>T	ENST00000220003.9	+	5	1059	c.330C>T	c.(328-330)acC>acT	p.T110T	CSK_ENST00000439220.2_Silent_p.T110T|CSK_ENST00000309470.9_Silent_p.T110T|CSK_ENST00000567571.1_Silent_p.T110T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	110	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.T110T(1)		central_nervous_system(1)|lung(2)	3						GGGAGAGCACCAACTACCCCG	0.627																																						uc010bkb.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(328-330)ACC>ACT		c-src tyrosine kinase							66.0	55.0	59.0					15																	75091700		2197	4296	6493	SO:0001819	synonymous_variant	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091700C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.330C>T	15.37:g.75091700C>T						CSK_uc002ays.2_Silent_p.T110T|CSK_uc010bkc.1_5'UTR	p.T110T	NM_001127190	NP_001120662	P41240	CSK_HUMAN			6	513	+			110			SH2.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.330C>T	CCDS10269.1																																																																																				PASS	0.627	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		15	65	15	65	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89400049	89400049	+	Missense_Mutation	SNP	C	C	A	rs539580597		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:89400049C>A	ENST00000561243.1	+	11	4233	c.4233C>A	c.(4231-4233)agC>agA	p.S1411R	ACAN_ENST00000439576.2_Missense_Mutation_p.S1411R|ACAN_ENST00000352105.7_Missense_Mutation_p.S1411R|ACAN_ENST00000559004.1_Missense_Mutation_p.S1411R			P16112	PGCA_HUMAN	aggrecan	1411	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S1297R(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGAGATCAGCGGGCTTCCTT	0.537																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4231-4233)AGC>AGA		aggrecan isoform 2 precursor							83.0	86.0	85.0					15																	89400049		1788	4058	5846	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400049C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4233C>A	15.37:g.89400049C>A	ENSP00000453342:p.Ser1411Arg					ACAN_uc010upp.1_Missense_Mutation_p.S1411R|ACAN_uc002bna.2_RNA	p.S1411R	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4607	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1411					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4233C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	15.31	2.795377	0.50208	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97066	-4.23;-4.23	3.65	-0.253	0.12996	.	.	.	.	.	D	0.97835	0.9289	M	0.87682	2.9	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.70227	0.956;0.968	D	0.92282	0.5834	9	0.87932	D	0	.	4.4838	0.11780	0.0:0.3125:0.1679:0.5196	.	1411;1411	E7ENV9;E7EX88	.;.	R	1411;1411;1297	ENSP00000387356:S1411R;ENSP00000341615:S1411R	ENSP00000268134:S1297R	S	+	3	2	ACAN	87201053	0.139000	0.22563	0.003000	0.11579	0.487000	0.33371	-0.611000	0.05622	-0.140000	0.11394	-0.458000	0.05436	AGC		PASS	0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		50	112	50	112	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90334210	90334210	+	Missense_Mutation	SNP	C	C	A	rs200383502		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:90334210C>A	ENST00000300060.6	-	19	2956	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	881	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.Q881H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCAGTTGCTCTGGACAAAGT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19369	0.001		0.0	False		,,,				2504	0.0				NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2641-2643)CAG>CAT		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						123.0	109.0	114.0					15																	90334210		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90334210C>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2643G>T	15.37:g.90334210C>A	ENSP00000300060:p.Gln881His						p.Q881H	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		19	2935	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		881			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2643G>T	CCDS10356.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.186	0.795022	0.16327	.	.	ENSG00000166825	ENST00000300060	T	0.06068	3.35	5.01	-0.697	0.11284	.	0.405061	0.25472	N	0.030429	T	0.08088	0.0202	M	0.72894	2.215	0.09310	N	1	B	0.19200	0.034	B	0.29440	0.102	T	0.25745	-1.0123	10	0.62326	D	0.03	.	4.4587	0.11656	0.0:0.3073:0.1787:0.514	.	881	P15144	AMPN_HUMAN	H	881	ENSP00000300060:Q881H	ENSP00000300060:Q881H	Q	-	3	2	ANPEP	88135214	0.007000	0.16637	0.002000	0.10522	0.146000	0.21551	0.188000	0.17018	0.011000	0.14865	0.551000	0.68910	CAG		PASS	0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			41	80	41	80	---	---	---	---
RGMA	56963	broad.mit.edu	37	15	93588839	93588839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:93588839T>A	ENST00000329082.7	-	4	1013	c.742A>T	c.(742-744)Aag>Tag	p.K248*	RGMA_ENST00000556658.1_Nonsense_Mutation_p.K139*|RGMA_ENST00000557301.1_Nonsense_Mutation_p.K256*|RGMA_ENST00000543599.1_Nonsense_Mutation_p.K232*|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Nonsense_Mutation_p.K232*|RGMA_ENST00000542321.2_Nonsense_Mutation_p.K232*|RGMA_ENST00000538818.1_Nonsense_Mutation_p.K139*	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	248					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.K256*(1)|p.K248*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CCACCGTTCTTAGAGCCATCC	0.582																																						uc002bss.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(742-744)AAG>TAG		RGM domain family, member A precursor							49.0	56.0	54.0					15																	93588839		2111	4231	6342	SO:0001587	stop_gained	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588839T>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.742A>T	15.37:g.93588839T>A	ENSP00000330005:p.Lys248*					RGMA_uc002bsq.1_Nonsense_Mutation_p.K232*|RGMA_uc010boi.1_Nonsense_Mutation_p.K139*|RGMA_uc002bsr.1_Nonsense_Mutation_p.K139*|RGMA_uc010urc.1_Nonsense_Mutation_p.K256*	p.K248*	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1014	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		248					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Nonsense_Mutation	SNP	ENST00000329082.7	37	c.742A>T	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	T	41	8.913615	0.99000	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	.	.	.	4.86	4.86	0.63082	.	0.045975	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5538	14.1128	0.65134	0.0:0.0:0.0:1.0	.	.	.	.	X	232;232;248;232;139;256	.	ENSP00000330005:K248X	K	-	1	0	RGMA	91389843	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.118000	0.64673	1.809000	0.52856	0.459000	0.35465	AAG		PASS	0.582	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		6	96	6	96	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98509152	98509152	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:98509152A>T	ENST00000268042.6	+	3	566	c.402A>T	c.(400-402)aaA>aaT	p.K134N	ARRDC4_ENST00000538249.1_Missense_Mutation_p.K47N	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	134					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.K134N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTACTGGGAAATATGGAAGCA	0.418																																						uc010bom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)AAA>AAT		arrestin domain containing 4							195.0	175.0	182.0					15																	98509152		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98509152A>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.402A>T	15.37:g.98509152A>T	ENSP00000268042:p.Lys134Asn					ARRDC4_uc002bui.3_Missense_Mutation_p.K47N	p.K134N	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		3	561	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		134					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.402A>T	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829121	0.71258	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.15017	2.46;2.46	5.44	-0.988	0.10245	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	M	0.78285	2.405	0.43394	D	0.995517	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.964	T	0.31138	-0.9954	10	0.87932	D	0	-0.2409	12.1318	0.53946	0.2348:0.0:0.7652:0.0	.	134;47	Q8NCT1;F5H824	ARRD4_HUMAN;.	N	47;134	ENSP00000443774:K47N;ENSP00000268042:K134N	ENSP00000268042:K134N	K	+	3	2	ARRDC4	96310156	0.992000	0.36948	0.925000	0.36789	0.911000	0.54048	0.307000	0.19296	-0.096000	0.12329	0.455000	0.32223	AAA		PASS	0.418	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		11	173	11	173	---	---	---	---
FAM169B	283777	broad.mit.edu	37	15	98984300	98984300	+	Splice_Site	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr15:98984300C>T	ENST00000558256.1	-	6	708	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FAM169B_ENST00000332908.4_Splice_Site_p.K153K	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	153								p.K153K(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						ATCACCATACCTTGCTGCCGT	0.557																																						uc002buk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)AAG>AAA		hypothetical protein LOC283777							74.0	82.0	79.0					15																	98984300		2030	4178	6208	SO:0001630	splice_region_variant	283777							g.chr15:98984300C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.459+1G>A	15.37:g.98984300C>T							p.K153K	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			6	709	-			153					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.459G>A	CCDS45360.1																																																																																				PASS	0.557	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	Silent	21	48	21	48	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1652378	1652378	+	Missense_Mutation	SNP	C	C	A	rs375698323		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:1652378C>A	ENST00000426508.2	-	4	725	c.362G>T	c.(361-363)gGg>gTg	p.G121V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	121					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.G121V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACCCTGTCCCCAGACAGCAG	0.542																																						uc002cmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(361-363)GGG>GTG		intraflagellar transport 140		C	VAL/GLY	0,4398		0,0,2199	92.0	71.0	78.0		362	4.8	0.4	16		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFT140	NM_014714.3	109	0,1,6498	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	121/1463	1652378	1,12997	2199	4300	6499	SO:0001583	missense	9742							g.chr16:1652378C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.362G>T	16.37:g.1652378C>A	ENSP00000406012:p.Gly121Val						p.G121V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			4	724	-		Hepatocellular(780;0.219)	121			WD 3.		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.362G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219223	0.58560	0.0	1.16E-4	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.71341	-0.56	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86111	0.1562	10	0.59425	D	0.04	.	12.3992	0.55404	0.0:0.8302:0.1698:0.0	.	121	Q96RY7	IF140_HUMAN	V	121	ENSP00000406012:G121V	ENSP00000380562:G121V	G	-	2	0	IFT140	1592379	0.978000	0.34361	0.422000	0.26621	0.557000	0.35523	2.547000	0.45786	2.242000	0.73789	0.561000	0.74099	GGG		PASS	0.542	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		12	52	12	52	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2153483	2153483	+	Missense_Mutation	SNP	C	C	A	rs201905743		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:2153483C>A	ENST00000262304.4	-	23	8783	c.8575G>T	c.(8575-8577)Gcc>Tcc	p.A2859S	PKD1_ENST00000423118.1_Missense_Mutation_p.A2859S|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2859					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)	p.A2859S(1)		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						GGGATCTGGGCGCCGGCCTGT	0.627																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(8575-8577)GCC>TCC		polycystin 1 isoform 1 precursor							23.0	26.0	25.0					16																	2153483		2098	4086	6184	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.chr16:2153483C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8575G>T	16.37:g.2153483C>A	ENSP00000262304:p.Ala2859Ser					PKD1_uc002cot.1_Missense_Mutation_p.A2859S|PKD1_uc010bse.1_RNA	p.A2859S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8784	-			2859			Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8575G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	7.392	0.631001	0.14322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.69926	-0.44;-0.44	4.62	-7.15	0.01521	.	0.690707	0.14273	N	0.330031	T	0.43765	0.1262	L	0.34521	1.04	0.09310	N	1	B;B	0.30664	0.289;0.224	B;B	0.24701	0.055;0.033	T	0.23940	-1.0174	10	0.19147	T	0.46	.	10.2757	0.43507	0.0:0.1739:0.1031:0.723	.	2859;2859	P98161-3;P98161	.;PKD1_HUMAN	S	2859;2859;2194	ENSP00000262304:A2859S;ENSP00000399501:A2859S	ENSP00000262304:A2859S	A	-	1	0	PKD1	2093484	0.001000	0.12720	0.001000	0.08648	0.056000	0.15407	-0.104000	0.10923	-1.785000	0.01271	-0.263000	0.10527	GCC		PASS	0.627	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	69	4	69	---	---	---	---
RAB26	25837	broad.mit.edu	37	16	2202841	2202841	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:2202841C>A	ENST00000210187.6	+	6	649	c.489C>A	c.(487-489)caC>caA	p.H163Q	TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.H97Q|RP11-304L19.5_ENST00000563192.1_lincRNA|SNORD60_ENST00000383903.1_RNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	163					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)	p.H97Q(1)		kidney(1)|large_intestine(1)|lung(3)	5						CCGAGATCCACGAGTACGCCC	0.682																																						uc002cou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CAC>CAA		RAB26, member RAS oncogene family							27.0	26.0	27.0					16																	2202841		2192	4280	6472	SO:0001583	missense	25837				exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	g.chr16:2202841C>A	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.489C>A	16.37:g.2202841C>A	ENSP00000210187:p.His163Gln					RAB26_uc010bsf.2_Missense_Mutation_p.H97Q|TRAF7_uc002cow.2_5'Flank	p.H163Q	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN			6	623	+			163					B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	c.489C>A	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	C	3.295	-0.144166	0.06627	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.79247	-1.25;-1.25	3.96	-5.0	0.03001	Small GTP-binding protein domain (1);	0.238464	0.31747	N	0.007125	T	0.37100	0.0991	N	0.00996	-1.065	0.40356	D	0.979189	B	0.02656	0.0	B	0.12156	0.007	T	0.02244	-1.1189	10	0.31617	T	0.26	.	2.511	0.04657	0.1688:0.43:0.1716:0.2296	.	163	Q9ULW5	RAB26_HUMAN	Q	97;163	ENSP00000441580:H97Q;ENSP00000210187:H163Q	ENSP00000210187:H163Q	H	+	3	2	RAB26	2142842	0.001000	0.12720	0.811000	0.32455	0.156000	0.22039	-1.288000	0.02783	-0.529000	0.06358	-2.087000	0.00375	CAC		PASS	0.682	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			4	21	4	21	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2347370	2347370	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:2347370C>A	ENST00000301732.5	-	17	2923	c.2223G>T	c.(2221-2223)ctG>ctT	p.L741L	ABCA3_ENST00000382381.3_Silent_p.L683L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	741	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L741L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGCAGCACTGCAGCTCCCCCT	0.642																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(2221-2223)CTG>CTT		ATP-binding cassette, sub-family A member 3							108.0	82.0	91.0					16																	2347370		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347370C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2223G>T	16.37:g.2347370C>A						ABCA3_uc010bsk.1_Silent_p.L683L|ABCA3_uc010bsl.1_Silent_p.L741L	p.L741L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			17	2935	-		Ovarian(90;0.17)	741			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2223G>T	CCDS10466.1																																																																																				PASS	0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		29	58	29	58	---	---	---	---
ABAT	18	broad.mit.edu	37	16	8862807	8862807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:8862807G>T	ENST00000396600.2	+	11	1731	c.793G>T	c.(793-795)Gag>Tag	p.E265*	ABAT_ENST00000567812.1_Nonsense_Mutation_p.E280*|ABAT_ENST00000425191.2_Nonsense_Mutation_p.E265*|ABAT_ENST00000569156.1_Nonsense_Mutation_p.E265*|ABAT_ENST00000268251.8_Nonsense_Mutation_p.E265*	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	265					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.E265*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GAACCAACAGGAGGAGGCCCG	0.557																																						uc002czc.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(793-795)GAG>TAG		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						121.0	118.0	119.0					16																	8862807		2197	4300	6497	SO:0001587	stop_gained	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8862807G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.793G>T	16.37:g.8862807G>T	ENSP00000379845:p.Glu265*					ABAT_uc002czd.3_Nonsense_Mutation_p.E265*|ABAT_uc010buh.2_Nonsense_Mutation_p.E207*|ABAT_uc010bui.2_Nonsense_Mutation_p.E265*	p.E265*	NM_020686	NP_065737	P80404	GABT_HUMAN			11	959	+			265					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Nonsense_Mutation	SNP	ENST00000396600.2	37	c.793G>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774272	0.96922	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6546	18.8829	0.92364	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	ENSP00000268251:E265X	E	+	1	0	ABAT	8770308	1.000000	0.71417	0.990000	0.47175	0.181000	0.23173	9.709000	0.98729	2.712000	0.92718	0.485000	0.47835	GAG		PASS	0.557	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		36	195	36	195	---	---	---	---
GDE1	51573	broad.mit.edu	37	16	19519024	19519024	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:19519024T>C	ENST00000353258.3	-	4	801	c.621A>G	c.(619-621)ccA>ccG	p.P207P		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	207	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.P207P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGATAACTTCTGGCAAGAAAG	0.368																																						uc002dgh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(619-621)CCA>CCG		glycerophosphodiester phosphodiesterase 1							92.0	91.0	91.0					16																	19519024		2197	4300	6497	SO:0001819	synonymous_variant	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19519024T>C		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.621A>G	16.37:g.19519024T>C						GDE1_uc002dgi.2_Silent_p.P97P	p.P207P	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN			4	785	-			207			Lumenal (Potential).|GDPD.		O43334|Q6PKF7|Q7KYR4	Silent	SNP	ENST00000353258.3	37	c.621A>G	CCDS10578.1																																																																																				PASS	0.368	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		44	138	44	138	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19580760	19580760	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:19580760G>C	ENST00000251143.5	+	3	144	c.132G>C	c.(130-132)aaG>aaC	p.K44N	C16orf62_ENST00000438132.3_Missense_Mutation_p.K133N|C16orf62_ENST00000417362.2_Missense_Mutation_p.K44N|C16orf62_ENST00000538853.1_Missense_Mutation_p.K133N|C16orf62_ENST00000542263.1_Missense_Mutation_p.K133N			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	44						integral component of membrane (GO:0016021)		p.K44N(1)|p.K133N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGAGTCAAAGACAAAGAAAG	0.532																																						uc002dgn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(130-132)AAG>AAC		hypothetical protein LOC57020							50.0	51.0	51.0					16																	19580760		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19580760G>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.132G>C	16.37:g.19580760G>C	ENSP00000251143:p.Lys44Asn					C16orf62_uc002dgo.1_Missense_Mutation_p.K44N|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Missense_Mutation_p.K44N	p.K44N	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			3	144	+			44					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.132G>C		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473018	0.63737	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.17	4.21	0.49690	.	0.061458	0.64402	D	0.000006	T	0.66906	0.2837	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.85130	0.978;0.996;0.997	T	0.64334	-0.6432	10	0.30078	T	0.28	-28.0689	12.6423	0.56716	0.0796:0.0:0.9204:0.0	.	133;44;133	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	N	133;133;133;44;44	ENSP00000400815:K133N;ENSP00000444363:K133N;ENSP00000442468:K133N;ENSP00000251143:K44N;ENSP00000395973:K44N	ENSP00000251143:K44N	K	+	3	2	C16orf62	19488261	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.501000	0.60393	1.173000	0.42796	0.655000	0.94253	AAG		PASS	0.532	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		16	48	16	48	---	---	---	---
CD19	930	broad.mit.edu	37	16	28948961	28948961	+	Silent	SNP	C	C	T	rs201434626	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:28948961C>T	ENST00000324662.3	+	11	1433	c.1389C>T	c.(1387-1389)aaC>aaT	p.N463N	CD19_ENST00000567541.1_Silent_p.N463N|CD19_ENST00000538922.1_Silent_p.N463N			P15391	CD19_HUMAN	CD19 molecule	463					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.N463N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTTATGAGAACGAGGATGAAG	0.587																																						uc002drs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1387-1389)AAC>AAT		CD19 antigen precursor		C	,	0,4394		0,0,2197	70.0	73.0	72.0		1389,1389	-3.7	1.0	16		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CD19	NM_001178098.1,NM_001770.5	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	463/558,463/557	28948961	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948961C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1389C>T	16.37:g.28948961C>T						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.N463N	p.N463N	NM_001770	NP_001761	P15391	CD19_HUMAN			11	1451	+			463			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.1389C>T	CCDS10644.1																																																																																				PASS	0.587	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			16	94	16	94	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30732749	30732749	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:30732749G>A	ENST00000262518.4	+	21	3878	c.3493G>A	c.(3493-3495)Gca>Aca	p.A1165T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1165T|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1165	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.A1165T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCGACTCCTGCACCACAGCG	0.602																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3493-3495)GCA>ACA		Snf2-related CBP activator protein							93.0	80.0	84.0					16																	30732749		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732749G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3493G>A	16.37:g.30732749G>A	ENSP00000262518:p.Ala1165Thr					SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.A1022T|SRCAP_uc010bzz.1_Missense_Mutation_p.A735T	p.A1165T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3878	+			1165			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3493G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845025	0.32606	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91180	-2.8;-2.75	5.26	3.31	0.37934	.	.	.	.	.	T	0.79616	0.4476	N	0.08118	0	0.27022	N	0.964431	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.66452	-0.5920	9	0.26408	T	0.33	-3.2188	9.9671	0.41732	0.1684:0.0:0.8316:0.0	.	1165;1165	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	1165	ENSP00000262518:A1165T;ENSP00000378499:A1165T	ENSP00000262518:A1165T	A	+	1	0	SRCAP	30640250	0.070000	0.21116	0.644000	0.29465	0.966000	0.64601	0.713000	0.25794	0.779000	0.33543	0.563000	0.77884	GCA		PASS	0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		20	95	20	95	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30980721	30980721	+	Missense_Mutation	SNP	C	C	T	rs150435865		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:30980721C>T	ENST00000262519.8	+	11	3552	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	956	Glu-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R956C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGGCAAGCACCGCAAGTCCTT	0.662																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2866-2868)CGC>TGC		SET domain containing 1A		C	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	43.0	42.0	42.0		2866	5.5	1.0	16	dbSNP_134	42	0,8600		0,0,4300	no	missense	SETD1A	NM_014712.1	180	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	956/1708	30980721	1,12993	2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30980721C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2866C>T	16.37:g.30980721C>T	ENSP00000262519:p.Arg956Cys						p.R956C	NM_014712	NP_055527	O15047	SET1A_HUMAN			11	3552	+			956			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2866C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814869	0.70912	2.28E-4	0.0	ENSG00000099381	ENST00000262519	T	0.58210	0.35	5.54	5.54	0.83059	.	0.062122	0.64402	D	0.000004	T	0.52500	0.1738	L	0.44542	1.39	0.51767	D	0.999932	D	0.58970	0.984	P	0.45474	0.482	T	0.56625	-0.7948	10	0.66056	D	0.02	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	956	O15047	SET1A_HUMAN	C	956	ENSP00000262519:R956C	ENSP00000262519:R956C	R	+	1	0	SETD1A	30888222	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.575000	0.53870	2.884000	0.98904	0.655000	0.94253	CGC		PASS	0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		13	33	13	33	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31131695	31131695	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:31131695C>T	ENST00000543774.2	+	4	657	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	KAT8_ENST00000448516.2_Missense_Mutation_p.R108W|KAT8_ENST00000219797.4_Missense_Mutation_p.R108W|RP11-196G11.4_ENST00000576336.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	108	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.R108W(1)									AGACAAGAACCGGCTGGCGCT	0.577																																						uc002eay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CGG>TGG		MYST histone acetyltransferase 1 isoform 1							63.0	62.0	62.0					16																	31131695		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31131695C>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.322C>T	16.37:g.31131695C>T	ENSP00000456933:p.Arg108Trp					MYST1_uc002eax.2_Missense_Mutation_p.R108W	p.R108W	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			3	340	+			108			Chromo.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.322C>T	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911321	0.92178	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.55052	0.54;0.54	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82896	-0.0230	10	0.87932	D	0	-27.8425	13.8101	0.63256	0.1533:0.8467:0.0:0.0	.	108;108	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	W	108	ENSP00000219797:R108W;ENSP00000406037:R108W	ENSP00000219797:R108W	R	+	1	2	KAT8	31039196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.501000	0.66950	2.769000	0.95229	0.655000	0.94253	CGG		PASS	0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		26	84	26	84	---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48596134	48596134	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:48596134G>A	ENST00000262384.3	-	2	656	c.420C>T	c.(418-420)ctC>ctT	p.L140L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	140					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.L140L(1)|p.L187L(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TATTTTCAAAGAGCTTTACAA	0.433																																						uc002efp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(418-420)CTC>CTT		Nedd4 binding protein 1							81.0	80.0	80.0					16																	48596134		1879	4114	5993	SO:0001819	synonymous_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596134G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.420C>T	16.37:g.48596134G>A							p.L140L	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	657	-		all_cancers(37;0.179)|all_lung(18;0.11)	140					A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	c.420C>T	CCDS45479.1																																																																																				PASS	0.433	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		27	115	27	115	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					uc002ezr.2																			6	Substitution - Missense(6)		lung(2)|prostate(2)|endometrium(2)	ovary(1)|skin(1)	2						c.(3229-3231)ATA>GTA		hydrocephalus inducing isoform a							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val						p.I1077V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			22	3357	-		Ovarian(137;0.0654)	1077					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		PASS	0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	56	4	56	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263896	75263896	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr16:75263896T>A	ENST00000162330.5	-	7	2252	c.2126A>T	c.(2125-2127)cAg>cTg	p.Q709L	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.Q727L|BCAR1_ENST00000393420.6_Missense_Mutation_p.Q727L|BCAR1_ENST00000393422.2_Missense_Mutation_p.Q727L|BCAR1_ENST00000535626.2_Missense_Mutation_p.Q561L|BCAR1_ENST00000418647.3_Missense_Mutation_p.Q755L|BCAR1_ENST00000538440.2_Missense_Mutation_p.Q709L|BCAR1_ENST00000546196.1_Missense_Mutation_p.Q680L|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000542031.2_Missense_Mutation_p.Q707L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	709					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.Q755L(1)|p.Q727L(1)|p.Q709L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGACACCTCCTGTTCCAGTCG	0.672																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2125-2127)CAG>CTG		breast cancer anti-estrogen resistance 1							33.0	38.0	37.0					16																	75263896		2174	4261	6435	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263896T>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2126A>T	16.37:g.75263896T>A	ENSP00000162330:p.Gln709Leu					BCAR1_uc002fdt.2_Missense_Mutation_p.Q162L|BCAR1_uc002fdu.2_Missense_Mutation_p.Q499L|BCAR1_uc010cgu.2_Missense_Mutation_p.Q698L|BCAR1_uc010vna.1_Missense_Mutation_p.Q707L|BCAR1_uc010vnb.1_Missense_Mutation_p.Q755L|BCAR1_uc002fdw.2_Missense_Mutation_p.Q709L|BCAR1_uc010vnc.1_Missense_Mutation_p.Q561L|BCAR1_uc010vnd.1_Missense_Mutation_p.Q727L|BCAR1_uc002fdx.2_Missense_Mutation_p.Q727L	p.Q709L	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2249	-			709					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2126A>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633321	0.67015	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.72	4.72	0.59763	CAS family, DUF3513 (1);	0.070249	0.56097	D	0.000021	T	0.46560	0.1399	M	0.62723	1.935	0.53688	D	0.999979	D;D;D;D;D;D;D;D;D	0.71674	0.969;0.997;0.969;0.962;0.962;0.969;0.997;0.969;0.998	D;P;D;D;D;D;P;D;D	0.70227	0.968;0.854;0.968;0.946;0.946;0.968;0.896;0.968;0.91	T	0.47100	-0.9143	10	0.66056	D	0.02	-25.0225	13.3493	0.60593	0.0:0.0:0.0:1.0	.	727;561;755;707;727;727;709;709;499	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	L	709;727;727;709;755;561;727;707;680	ENSP00000162330:Q709L;ENSP00000377074:Q727L;ENSP00000392708:Q727L;ENSP00000443841:Q709L;ENSP00000391669:Q755L;ENSP00000440370:Q561L;ENSP00000377072:Q727L;ENSP00000440415:Q707L;ENSP00000442161:Q680L	ENSP00000162330:Q709L	Q	-	2	0	BCAR1	73821397	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	7.586000	0.82596	1.887000	0.54652	0.455000	0.32223	CAG		PASS	0.672	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		57	52	57	52	---	---	---	---
TMEM102	284114	broad.mit.edu	37	17	7339208	7339208	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:7339208G>T	ENST00000323206.1	+	2	291	c.18G>T	c.(16-18)tgG>tgT	p.W6C	TMEM102_ENST00000396568.1_Missense_Mutation_p.W6C|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	6					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)		p.W6C(1)		kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CCGCAGTCTGGGGGAGTGCCC	0.667																																						uc002ggx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)TGG>TGT		transmembrane protein 102							21.0	27.0	25.0					17																	7339208		2160	4217	6377	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339208G>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.18G>T	17.37:g.7339208G>T	ENSP00000315387:p.Trp6Cys					FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.W6C	p.W6C	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			2	291	+		Prostate(122;0.173)	6			Extracellular (Potential).		D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.18G>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632343	0.67015	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.56611	0.45;0.45	5.53	5.53	0.82687	.	0.359454	0.22170	N	0.063643	T	0.69531	0.3121	M	0.63428	1.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.71523	-0.4567	10	0.87932	D	0	-10.0993	14.9661	0.71196	0.0:0.0:1.0:0.0	.	6	Q8N9M5	TM102_HUMAN	C	6	ENSP00000315387:W6C;ENSP00000379815:W6C	ENSP00000315387:W6C	W	+	3	0	TMEM102	7279932	1.000000	0.71417	0.996000	0.52242	0.824000	0.46624	3.272000	0.51616	2.607000	0.88179	0.655000	0.94253	TGG		PASS	0.667	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		12	52	12	52	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	46	77	46	77	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32956213	32956213	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:32956213C>T	ENST00000321639.5	+	5	1386	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	353						integral component of membrane (GO:0016021)		p.P353L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCATCCTGCCCCTGGCCATG	0.577																																						uc002hif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1057-1059)CCC>CTC		transmembrane protein 132E precursor							49.0	40.0	43.0					17																	32956213		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956213C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1058C>T	17.37:g.32956213C>T	ENSP00000316532:p.Pro353Leu						p.P353L	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1386	+			353			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1058C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.782846	0.70222	.	.	ENSG00000181291	ENST00000321639	T	0.26660	1.72	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.81614	2.55	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.60826	-0.7186	10	0.87932	D	0	-26.6804	15.9065	0.79433	0.0:1.0:0.0:0.0	.	353	Q6IEE7	T132E_HUMAN	L	353	ENSP00000316532:P353L	ENSP00000316532:P353L	P	+	2	0	TMEM132E	29980326	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.360000	0.79487	2.410000	0.81850	0.436000	0.28706	CCC		PASS	0.577	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		10	30	10	30	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61621687	61621687	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:61621687A>T	ENST00000583023.1	+	12	2430	c.2419A>T	c.(2419-2421)Agc>Tgc	p.S807C	KCNH6_ENST00000581784.1_Missense_Mutation_p.S718C|KCNH6_ENST00000314672.5_Missense_Mutation_p.S771C|KCNH6_ENST00000456941.2_Missense_Mutation_p.S718C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	807					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.S807C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCAAGGCACAGCCCCCAAAG	0.607																																						uc002jay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2419-2421)AGC>TGC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						39.0	44.0	42.0					17																	61621687		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61621687A>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2419A>T	17.37:g.61621687A>T	ENSP00000463533:p.Ser807Cys					KCNH6_uc010wpl.1_Missense_Mutation_p.S648C|KCNH6_uc010wpm.1_Missense_Mutation_p.S771C|KCNH6_uc002jaz.1_Missense_Mutation_p.S718C	p.S807C	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			12	2499	+			807			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2419A>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040953	0.35989	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99298	-5.71	5.63	3.35	0.38373	.	1.017770	0.07866	N	0.967023	D	0.97923	0.9317	L	0.40543	1.245	0.33661	D	0.609652	P;P;P;D	0.52996	0.731;0.89;0.933;0.957	B;B;P;P	0.46339	0.39;0.41;0.513;0.497	D	0.96575	0.9426	10	0.51188	T	0.08	.	8.0034	0.30310	0.7903:0.1379:0.0718:0.0	.	648;771;718;807	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	C	807;718	ENSP00000396900:S718C	ENSP00000318212:S807C	S	+	1	0	KCNH6	58975419	0.591000	0.26824	0.006000	0.13384	0.009000	0.06853	2.621000	0.46418	1.026000	0.39733	0.533000	0.62120	AGC		PASS	0.607	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		34	44	34	44	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958285	61958285	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:61958285C>A	ENST00000423893.2	-	4	364	c.303G>T	c.(301-303)ctG>ctT	p.L101L	GH2_ENST00000456543.2_Silent_p.L101L|GH2_ENST00000332800.7_Silent_p.L101L|GH2_ENST00000449787.2_Silent_p.L86L			P01242	SOM2_HUMAN	growth hormone 2	101					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.L101L(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGATGCGGAGCAGCTCTAGGT	0.647																																						uc002jco.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(301-303)CTG>CTT		growth hormone 2 isoform 1							59.0	64.0	62.0					17																	61958285		2203	4300	6503	SO:0001819	synonymous_variant	2689					extracellular region	hormone activity	g.chr17:61958285C>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.303G>T	17.37:g.61958285C>A						GH2_uc002jcj.2_Silent_p.L101L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L101L|GH2_uc002jcm.1_Silent_p.L101L|GH2_uc002jcn.1_Silent_p.L86L	p.L101L	NM_002059	NP_002050	P01242	SOM2_HUMAN			4	365	-			101					B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	ENST00000423893.2	37	c.303G>T	CCDS11647.1																																																																																				PASS	0.647	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		47	59	47	59	---	---	---	---
PRKAR1A	5573	broad.mit.edu	37	17	66519945	66519945	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr17:66519945A>T	ENST00000589228.1	+	4	556	c.428A>T	c.(427-429)gAt>gTt	p.D143V	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.D143V|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.D143V|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.D143V|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.D143V|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.D143V	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	143					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.D143V(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CATCTTGATGATAATGAGAGA	0.373			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	uc002jhg.2			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	T|Mis|N|F|S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	myxoma|endocrine|papillary thyroid	papillary thyroid		1	Substitution - Missense(1)		lung(1)	adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12						c.(427-429)GAT>GTT		cAMP-dependent protein kinase, regulatory							100.0	94.0	96.0					17																	66519945		2203	4300	6503	SO:0001583	missense	5573	Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66519945A>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.428A>T	17.37:g.66519945A>T	ENSP00000464977:p.Asp143Val					PRKAR1A_uc002jhh.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.D19V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.D143V	p.D143V	NM_212471	NP_997636	P10644	KAP0_HUMAN			4	608	+	Breast(10;1.64e-13)		143			cAMP 1.		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.428A>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941667	0.73557	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.84944	-1.92;-1.92;-1.92	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.084810	0.85682	D	0.000000	D	0.88005	0.6321	M	0.82517	2.595	0.80722	D	1	B;B	0.28933	0.228;0.228	B;B	0.33750	0.169;0.169	D	0.86778	0.1977	10	0.59425	D	0.04	-35.6776	16.643	0.85134	1.0:0.0:0.0:0.0	.	143;143	B2R5T5;P10644	.;KAP0_HUMAN	V	143	ENSP00000351410:D143V;ENSP00000376475:D143V;ENSP00000445625:D143V	ENSP00000351410:D143V	D	+	2	0	PRKAR1A	64031540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.330000	0.79161	0.533000	0.62120	GAT		PASS	0.373	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			37	98	37	98	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5419732	5419732	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr18:5419732G>A	ENST00000341928.2	-	12	1824	c.1484C>T	c.(1483-1485)tCg>tTg	p.S495L	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S513L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S495L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S513L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S513L|EPB41L3_ENST00000542146.1_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	495	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.S495L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCGGATGGCCGAGATGGGCGT	0.547																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1483-1485)TCG>TTG		erythrocyte membrane protein band 4.1-like 3							187.0	129.0	149.0					18																	5419732		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419732G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1484C>T	18.37:g.5419732G>A	ENSP00000343158:p.Ser495Leu					EPB41L3_uc010wzh.1_Missense_Mutation_p.S513L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S513L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S404L|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.S74L	p.S495L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			12	1570	-			495			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1484C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492509	0.64074	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D;D	0.97352	-1.51;-4.35;-1.63;-1.51;-1.67	5.61	3.81	0.43845	.	0.832580	0.10604	N	0.655275	D	0.93504	0.7927	L	0.29908	0.895	0.44268	D	0.997123	B;B;B;B;B	0.32071	0.355;0.002;0.0;0.001;0.242	B;B;B;B;B	0.30401	0.115;0.003;0.0;0.001;0.022	D	0.89324	0.3642	10	0.28530	T	0.3	.	12.0591	0.53552	0.1398:0.0:0.8602:0.0	.	513;74;404;513;495	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	L	495;404;513;404;495;513	ENSP00000343158:S495L;ENSP00000442091:S404L;ENSP00000441174:S513L;ENSP00000341138:S495L;ENSP00000382981:S513L	ENSP00000343158:S495L	S	-	2	0	EPB41L3	5409732	0.572000	0.26668	0.002000	0.10522	0.851000	0.48451	4.336000	0.59304	1.515000	0.48885	0.655000	0.94253	TCG		PASS	0.547	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		30	103	30	103	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr18:50278670G>T	ENST00000442544.2	+	2	954	c.338G>T	c.(337-339)gGa>gTa	p.G113V	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	113	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.G113A(2)|p.G113V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGATGAGGGACTTTACCAA	0.448																																						uc002lfe.1																			3	Substitution - Missense(3)		lung(3)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(337-339)GGA>GTA		netrin receptor DCC precursor							144.0	133.0	137.0					18																	50278670		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278670G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.338G>T	18.37:g.50278670G>T	ENSP00000389140:p.Gly113Val					DCC_uc010xdr.1_5'UTR	p.G113V	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	925	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	113			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.338G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464860	0.43839	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.11821	2.74	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.60038	0.2238	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79706	-0.1691	10	0.87932	D	0	.	17.7261	0.88365	0.0:0.0:1.0:0.0	.	113	P43146	DCC_HUMAN	V	113;46	ENSP00000389140:G113V	ENSP00000304146:G46V	G	+	2	0	DCC	48532668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.457000	0.97630	2.471000	0.83476	0.655000	0.94253	GGA		PASS	0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		22	86	22	86	---	---	---	---
NARS	4677	broad.mit.edu	37	18	55276599	55276599	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr18:55276599T>G	ENST00000256854.5	-	7	1024	c.569A>C	c.(568-570)aAg>aCg	p.K190T	NARS_ENST00000423481.2_Intron	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	190					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.K190T(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTGCTTGCCCTTTGGGGTAAG	0.403																																						uc002lgs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)AAG>ACG		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						179.0	163.0	168.0					18																	55276599		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55276599T>G	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.569A>C	18.37:g.55276599T>G	ENSP00000256854:p.Lys190Thr					NARS_uc002lgt.2_Missense_Mutation_p.K189T|NARS_uc010xea.1_Intron|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.K190T|NARS_uc010xed.1_Missense_Mutation_p.K157T	p.K190T	NM_004539	NP_004530	O43776	SYNC_HUMAN			7	797	-		Colorectal(73;0.227)	190					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.569A>C	CCDS32837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.21|18.21	3.574378|3.574378	0.65878|0.65878	.|.	.|.	ENSG00000134440|ENSG00000134440	ENST00000540592|ENST00000256854;ENST00000411676	.|T	.|0.79352	.|-1.26	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.404136|0.404136	0.27650|0.27650	N|N	0.018436|0.018436	T|T	0.68677|0.68677	0.3027|0.3027	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.15473	.|0.003;0.013;0.002	.|B;B;B	.|0.18263	.|0.009;0.021;0.021	T|T	0.64478|0.64478	-0.6398|-0.6398	7|10	0.66056|0.56958	D|D	0.02|0.05	.|.	16.2618|16.2618	0.82550|0.82550	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|190;157;190	.|B4DGT6;F5H015;O43776	.|.;.;SYNC_HUMAN	N|T	166|190;157	.|ENSP00000256854:K190T	ENSP00000442496:K166N|ENSP00000256854:K190T	K|K	-|-	3|2	2|0	NARS|NARS	53427597|53427597	0.986000|0.986000	0.35501|0.35501	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	5.650000|5.650000	0.67944|0.67944	2.319000|2.319000	0.78375|0.78375	0.533000|0.533000	0.62120|0.62120	AAA|AAG		PASS	0.403	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		24	152	24	152	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547658	63547658	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr18:63547658C>T	ENST00000397968.2	+	12	2312	c.1886C>T	c.(1885-1887)aCt>aTt	p.T629I	CDH7_ENST00000323011.3_Missense_Mutation_p.T629I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	629					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T629I(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTATCGTCACTATGAGAAGA	0.443																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1885-1887)ACT>ATT		cadherin 7, type 2 preproprotein							55.0	56.0	55.0					18																	63547658		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547658C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1886C>T	18.37:g.63547658C>T	ENSP00000381058:p.Thr629Ile					CDH7_uc002lkb.2_Missense_Mutation_p.T629I	p.T629I	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2211	+		Esophageal squamous(42;0.129)	629			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1886C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123647	0.37436	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.49432	0.78;0.78	5.71	5.71	0.89125	.	0.052602	0.64402	D	0.000001	T	0.50837	0.1639	M	0.67953	2.075	0.80722	D	1	B	0.30763	0.294	B	0.27887	0.084	T	0.52215	-0.8605	10	0.59425	D	0.04	.	19.8625	0.96789	0.0:1.0:0.0:0.0	.	629	Q9ULB5	CADH7_HUMAN	I	629	ENSP00000319166:T629I;ENSP00000381058:T629I	ENSP00000319166:T629I	T	+	2	0	CDH7	61698638	1.000000	0.71417	0.978000	0.43139	0.233000	0.25261	5.733000	0.68571	2.689000	0.91719	0.655000	0.94253	ACT		PASS	0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		6	86	6	86	---	---	---	---
OR4F17	81099	broad.mit.edu	37	19	110698	110698	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:110698T>C	ENST00000585993.1	+	2	159	c.20T>C	c.(19-21)tTt>tCt	p.F7S	OR4F17_ENST00000318050.3_Missense_Mutation_p.F7S			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F7S(1)		lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GAATTCATTTTTCTGGGTCTC	0.393																																						uc002loc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TTT>TCT		olfactory receptor, family 4, subfamily F,							231.0	222.0	225.0					19																	110698		2202	4297	6499	SO:0001583	missense	81099				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:110698T>C	AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.20T>C	19.37:g.110698T>C	ENSP00000467301:p.Phe7Ser					OR4F17_uc002lob.1_Missense_Mutation_p.F7S	p.F7S	NM_001005240	NP_001005240	Q8NGA8	O4F17_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)	1	20	+		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	7			Extracellular (Potential).		B2RNE8	Missense_Mutation	SNP	ENST00000585993.1	37	c.20T>C	CCDS32854.1	.	.	.	.	.	.	.	.	.	.	.	8.623	0.891952	0.17613	.	.	ENSG00000176695	ENST00000442916;ENST00000318050	T	0.00669	5.9	2.33	2.33	0.28932	.	0.245012	0.21343	U	0.076100	T	0.01387	0.0045	M	0.82323	2.585	0.29735	N	0.837604	B	0.30482	0.281	B	0.22152	0.038	T	0.06844	-1.0804	10	0.87932	D	0	.	8.5522	0.33458	0.0:0.0:0.0:1.0	.	7	Q8NGA8	O4F17_HUMAN	S	55;7	ENSP00000315047:F7S	ENSP00000315047:F7S	F	+	2	0	OR4F17	61698	0.488000	0.25996	0.991000	0.47740	0.105000	0.19272	4.201000	0.58439	1.320000	0.45209	0.318000	0.21364	TTT		PASS	0.393	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451410.1			15	527	15	527	---	---	---	---
ATCAY	85300	broad.mit.edu	37	19	3907875	3907875	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:3907875C>A	ENST00000450849.2	+	5	969	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	ATCAY_ENST00000301260.6_Missense_Mutation_p.L168M|ATCAY_ENST00000600960.1_Missense_Mutation_p.L168M|ATCAY_ENST00000398448.3_Missense_Mutation_p.L174M	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	168					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.L168M(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCGTATAGACCTGCACATGAT	0.672																																						uc002lyy.3																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(502-504)CTG>ATG		caytaxin							49.0	59.0	56.0					19																	3907875		2026	4184	6210	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907875C>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.502C>A	19.37:g.3907875C>A	ENSP00000390941:p.Leu168Met					ATCAY_uc010xhz.1_Missense_Mutation_p.L174M|ATCAY_uc010dts.2_5'Flank	p.L168M	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	932	+		Hepatocellular(1079;0.137)	168					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.502C>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	6.151	0.396005	0.11638	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.29397	1.58;1.57;1.58	5.1	5.1	0.69264	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.239599	0.41938	D	0.000796	T	0.10637	0.0260	N	0.01128	-1	0.36394	D	0.862677	B;B	0.32939	0.391;0.095	B;B	0.31946	0.138;0.041	T	0.25641	-1.0126	10	0.02654	T	1	-1.1919	17.5524	0.87880	0.0:1.0:0.0:0.0	.	174;168	B4DS11;Q86WG3	.;ATCAY_HUMAN	M	168;168;168;174;146	ENSP00000390941:L168M;ENSP00000301260:L168M;ENSP00000381466:L174M	ENSP00000301260:L168M	L	+	1	2	ATCAY	3858875	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.503000	0.53340	2.385000	0.81259	0.650000	0.86243	CTG		PASS	0.672	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			11	18	11	18	---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6151739	6151739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:6151739G>T	ENST00000586696.1	+	4	595	c.319G>T	c.(319-321)Gga>Tga	p.G107*	ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.G107*|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_Nonsense_Mutation_p.G57*|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.G107*			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	107					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.G107*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGTTTCCACGGAGTTGGTAT	0.453																																						uc002mef.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(319-321)GGA>TGA		bubblegum-related acyl-CoA synthetase 2							146.0	116.0	126.0					19																	6151739		2203	4300	6503	SO:0001587	stop_gained	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6151739G>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.319G>T	19.37:g.6151739G>T	ENSP00000465589:p.Gly107*					ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Nonsense_Mutation_p.G107*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.G107*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.G57*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.G107*	p.G107*	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			4	546	+			107					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Nonsense_Mutation	SNP	ENST00000586696.1	37	c.319G>T	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	38	7.159582	0.98103	.	.	ENSG00000130377	ENST00000252669	.	.	.	4.68	2.49	0.30216	.	1.394380	0.05425	N	0.544911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5474	11.6294	0.51164	0.0:0.0:0.6576:0.3424	.	.	.	.	X	107	.	ENSP00000252669:G107X	G	+	1	0	ACSBG2	6102739	1.000000	0.71417	0.007000	0.13788	0.979000	0.70002	4.754000	0.62191	0.465000	0.27167	0.462000	0.41574	GGA		PASS	0.453	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		2	14	2	14	---	---	---	---
MLLT1	4298	broad.mit.edu	37	19	6230582	6230582	+	Splice_Site	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:6230582C>A	ENST00000252674.7	-	4	582	c.419G>T	c.(418-420)gGg>gTg	p.G140V		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	140					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.G140V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CACACTCACCCCGCCGGCCCG	0.697			T	MLL	AL																																	uc002mek.2				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(418-420)GGG>GTG		myeloid/lymphoid or mixed-lineage leukemia							50.0	52.0	51.0					19																	6230582		2203	4300	6503	SO:0001630	splice_region_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230582C>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.420+1G>T	19.37:g.6230582C>A							p.G140V	NM_005934	NP_005925	Q03111	ENL_HUMAN			4	583	-			140					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.419G>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893061	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.85945	2.785	0.80722	D	1	P	0.46220	0.874	P	0.57204	0.815	D	0.84877	0.0828	9	0.87932	D	0	-48.6183	16.3961	0.83605	0.0:1.0:0.0:0.0	.	140	Q03111	ENL_HUMAN	V	140	.	ENSP00000252674:G140V	G	-	2	0	MLLT1	6181582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GGG		PASS	0.697	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934	Missense_Mutation	17	26	17	26	---	---	---	---
ZNF358	140467	broad.mit.edu	37	19	7585294	7585294	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:7585294G>T	ENST00000597229.1	+	2	1336	c.1166G>T	c.(1165-1167)aGc>aTc	p.S389I	MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.S389I	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	389					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S389I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CAGGCCTCCAGCCTCACCAAG	0.706																																						uc002mgn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1165-1167)AGC>ATC		zinc finger protein 358							15.0	16.0	16.0					19																	7585294		2131	4144	6275	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585294G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1166G>T	19.37:g.7585294G>T	ENSP00000472305:p.Ser389Ile					MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	p.S389I	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	1336	+			389			C2H2-type 9.		Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1166G>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074408	0.55646	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.15952	2.38	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21062	0.0507	L	0.38175	1.15	0.28774	N	0.900187	P	0.34780	0.468	P	0.46208	0.507	T	0.07731	-1.0757	9	0.23302	T	0.38	-23.1572	11.8425	0.52364	0.0:0.0:1.0:0.0	.	389	Q9NW07	ZN358_HUMAN	I	389	ENSP00000377873:S389I	ENSP00000354703:S389I	S	+	2	0	ZNF358	7491294	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.862000	0.04263	2.515000	0.84797	0.462000	0.41574	AGC		PASS	0.706	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			3	8	3	8	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10476245	10476245	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:10476245C>A	ENST00000525621.1	-	7	1440	c.959G>T	c.(958-960)gGc>gTc	p.G320V	TYK2_ENST00000529370.1_Missense_Mutation_p.G320V|TYK2_ENST00000524462.1_Missense_Mutation_p.G135V|TYK2_ENST00000264818.6_Missense_Mutation_p.G320V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	320	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G320V(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCACCAGTGCCTGTCACCAG	0.672																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(958-960)GGC>GTC		tyrosine kinase 2							53.0	65.0	61.0					19																	10476245		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476245C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.959G>T	19.37:g.10476245C>A	ENSP00000431885:p.Gly320Val					TYK2_uc010dxe.2_Missense_Mutation_p.G135V|TYK2_uc002mod.2_Missense_Mutation_p.G320V	p.G320V	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1337	-			320			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.959G>T	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.729687|3.729687	0.69074|0.69074	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.|D;D;D;D	.|0.92752	.|-2.21;-2.18;-2.18;-3.1	5.18|5.18	5.18|5.18	0.71444|0.71444	.|FERM domain (1);	.|0.000000	.|0.53938	.|D	.|0.000048	D|D	0.95984|0.95984	0.8692|0.8692	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.994;0.987	D|D	0.96491|0.96491	0.9364|0.9364	5|10	.|0.87932	.|D	.|0	-45.8765|-45.8765	16.2126|16.2126	0.82170|0.82170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|320;320	.|E9PPF2;P29597	.|.;TYK2_HUMAN	S|V	99|135;320;320;67;320	.|ENSP00000433203:G135V;ENSP00000431885:G320V;ENSP00000264818:G320V;ENSP00000432728:G320V	.|ENSP00000264818:G320V	A|G	-|-	1|2	0|0	TYK2|TYK2	10337245|10337245	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.345000|0.345000	0.29048|0.29048	7.059000|7.059000	0.76684|0.76684	2.422000|2.422000	0.82143|0.82143	0.561000|0.561000	0.74099|0.74099	GCA|GGC		PASS	0.672	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			25	63	25	63	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936440	30936440	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:30936440C>A	ENST00000355537.3	+	2	2118	c.1971C>A	c.(1969-1971)cgC>cgA	p.R657R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	657					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R657R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCGGGACCGCAAGGGCGAGG	0.687																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1969-1971)CGC>CGA		zinc finger protein 536							53.0	59.0	57.0					19																	30936440		2203	4299	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936440C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1971C>A	19.37:g.30936440C>A						ZNF536_uc010edd.1_Silent_p.R657R	p.R657R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2109	+	Esophageal squamous(110;0.0834)		657					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1971C>A	CCDS32984.1																																																																																				PASS	0.687	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		61	79	61	79	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768908	31768908	+	Silent	SNP	G	G	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:31768908G>A	ENST00000240587.4	-	2	2118	c.1791C>T	c.(1789-1791)agC>agT	p.S597S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	597					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S414S(1)|p.S597S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGACGTCTGGCTGCTGGGTG	0.552																																						uc002nsy.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1789-1791)AGC>AGT		zinc finger protein 537							95.0	103.0	100.0					19																	31768908		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768908G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1791C>T	19.37:g.31768908G>A							p.S597S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1856	-	Esophageal squamous(110;0.226)		597					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1791C>T	CCDS12421.2																																																																																				PASS	0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		46	209	46	209	---	---	---	---
PEPD	5184	broad.mit.edu	37	19	33878831	33878831	+	Missense_Mutation	SNP	G	G	A	rs376372688		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:33878831G>A	ENST00000244137.7	-	14	1342	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	PEPD_ENST00000397032.4_Missense_Mutation_p.R396C|PEPD_ENST00000436370.3_Missense_Mutation_p.R373C|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	437					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.R437C(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AGGACCTCGCGGTTAAGGAAG	0.657																																						uc002nur.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1309-1311)CGC>TGC		prolidase isoform 1		G	CYS/ARG,CYS/ARG,CYS/ARG	0,3902		0,0,1951	10.0	14.0	12.0		1309,1186,1117	3.2	0.9	19		12	2,8246		0,2,4122	no	missense,missense,missense	PEPD	NM_000285.3,NM_001166056.1,NM_001166057.1	180,180,180	0,2,6073	AA,AG,GG		0.0242,0.0,0.0165	benign,benign,benign	437/494,396/453,373/430	33878831	2,12148	1951	4124	6075	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33878831G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1309C>T	19.37:g.33878831G>A	ENSP00000244137:p.Arg437Cys					PEPD_uc010xrr.1_Missense_Mutation_p.R396C|PEPD_uc010xrs.1_Missense_Mutation_p.R373C|PEPD_uc002nuq.3_Missense_Mutation_p.R116C	p.R437C	NM_000285	NP_000276	P12955	PEPD_HUMAN			14	1444	-	Esophageal squamous(110;0.137)		437					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.1309C>T	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972201	0.53614	0.0	2.42E-4	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.79454	-1.27;-0.89;-1.26	5.36	3.15	0.36227	Peptidase M24, structural domain (3);	0.780297	0.12527	N	0.461159	T	0.71350	0.3329	L	0.58669	1.825	0.80722	D	1	B;B;B;B	0.23377	0.084;0.021;0.011;0.011	B;B;B;B	0.21151	0.017;0.033;0.007;0.007	T	0.71899	-0.4453	10	0.56958	D	0.05	-3.9793	7.3293	0.26573	0.0:0.1287:0.531:0.3403	.	373;396;437;437	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	C	437;396;373	ENSP00000244137:R437C;ENSP00000380226:R396C;ENSP00000391890:R373C	ENSP00000244137:R437C	R	-	1	0	PEPD	38570671	0.918000	0.31147	0.902000	0.35471	0.941000	0.58515	1.413000	0.34725	2.504000	0.84457	0.491000	0.48974	CGC		PASS	0.657	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		3	6	3	6	---	---	---	---
ZNF790	388536	broad.mit.edu	37	19	37314233	37314233	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:37314233T>C	ENST00000356725.4	-	4	303	c.183A>G	c.(181-183)aaA>aaG	p.K61K	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K61K(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCAGGGCTCTTTCCCTTTCT	0.458																																						uc002oew.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(181-183)AAA>AAG		zinc finger protein 790							70.0	61.0	64.0					19																	37314233		2203	4300	6503	SO:0001819	synonymous_variant	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37314233T>C	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.183A>G	19.37:g.37314233T>C						uc002oev.1_Intron	p.K61K	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	302	-	Esophageal squamous(110;0.183)		61			KRAB.			Silent	SNP	ENST00000356725.4	37	c.183A>G	CCDS12496.1																																																																																				PASS	0.458	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		19	74	19	74	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39914665	39914665	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:39914665C>T	ENST00000409794.3	+	19	3742	c.2892C>T	c.(2890-2892)ctC>ctT	p.L964L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Silent_p.L905L|PLEKHG2_ENST00000425673.1_Silent_p.L935L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	964					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L964L(1)|p.L905L(1)|p.L922L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCTGCACCTCCAGGTGCCGG	0.557																																						uc010xuz.1																			3	Substitution - coding silent(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(2890-2892)CTC>CTT		common-site lymphoma/leukemia guanine nucleotide							64.0	71.0	69.0					19																	39914665		2203	4300	6503	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914665C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2892C>T	19.37:g.39914665C>T						PLEKHG2_uc010xuy.1_Silent_p.L905L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.L742L	p.L964L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	3217	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		964					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.2892C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	2.917	-0.223957	0.06061	.	.	ENSG00000090924	ENST00000205135	.	.	.	3.82	0.17	0.15021	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	3.8388	0.08905	0.0:0.556:0.1986:0.2454	.	.	.	.	F	832	.	.	S	+	2	0	PLEKHG2	44606505	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.361000	0.20267	0.144000	0.18951	0.591000	0.81541	TCC		PASS	0.557	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		31	107	31	107	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41785042	41785042	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:41785042C>T	ENST00000392006.3	+	6	1020	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R194C|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R183C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R183C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R283C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R183C|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	283	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R283C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCACGTGGTCCGTATCGGCTG	0.547																																						uc002oqb.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(847-849)CGT>TGT		heterogeneous nuclear ribonucleoprotein U-like 1							94.0	92.0	93.0					19																	41785042		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41785042C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.847C>T	19.37:g.41785042C>T	ENSP00000375863:p.Arg283Cys					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R183C|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R283C|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R183C|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R183C|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R139C|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R183C	p.R283C	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			6	1136	+			283			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.847C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452290	0.84209	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000263367	T;T;T	0.71222	-0.55;-0.55;-0.55	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	M	0.88512	2.96	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.88614	0.3158	10	0.87932	D	0	-10.2347	19.3663	0.94464	0.0:1.0:0.0:0.0	.	194;183;283;283;183	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	C	183;283;194	ENSP00000340857:R183C;ENSP00000375863:R283C;ENSP00000263367:R194C	ENSP00000263367:R194C	R	+	1	0	HNRNPUL1	46476882	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.852000	0.48310	2.873000	0.98535	0.563000	0.77884	CGT		PASS	0.547	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		56	153	56	153	---	---	---	---
CEACAM4	1089	broad.mit.edu	37	19	42132258	42132258	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:42132258C>A	ENST00000221954.2	-	2	251	c.141G>T	c.(139-141)gaG>gaT	p.E47D	CEACAM4_ENST00000600925.1_Missense_Mutation_p.E47D	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	47	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E47D(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CATCCTTTCCCTCTGCAGCAC	0.507																																						uc002orh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GAG>GAT		carcinoembryonic antigen-related cell adhesion							96.0	95.0	95.0					19																	42132258		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132258C>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.141G>T	19.37:g.42132258C>A	ENSP00000221954:p.Glu47Asp					CEACAM4_uc010xwd.1_Missense_Mutation_p.E47D	p.E47D	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	252	-			47			Extracellular (Potential).|Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.141G>T	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426406	0.43020	.	.	ENSG00000105352	ENST00000221954	T	0.69685	-0.42	1.76	-0.509	0.11977	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81408	0.4816	M	0.92169	3.28	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.975;0.987	T	0.67780	-0.5582	9	0.87932	D	0	.	4.1946	0.10437	0.0:0.4607:0.0:0.5393	.	47;47	E7EMX3;O75871	.;CEAM4_HUMAN	D	47	ENSP00000221954:E47D	ENSP00000221954:E47D	E	-	3	2	CEACAM4	46824098	0.006000	0.16342	0.015000	0.15790	0.333000	0.28666	-0.164000	0.09983	-0.195000	0.10382	0.205000	0.17691	GAG		PASS	0.507	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		58	136	58	136	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44127512	44127512	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:44127512T>C	ENST00000222374.2	-	9	1185	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	379					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G379G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCTCTTGTGTCCGTCGCTGC	0.607																																						uc002oxc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1135-1137)GGA>GGG		cell adhesion molecule 4 precursor							159.0	156.0	157.0					19																	44127512		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44127512T>C	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1137A>G	19.37:g.44127512T>C							p.G379G	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			9	1186	-		Prostate(69;0.0199)	379			Cytoplasmic (Potential).		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.1137A>G	CCDS12627.1																																																																																				PASS	0.607	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		63	234	63	234	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44280704	44280704	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:44280704T>C	ENST00000262888.3	-	2	639	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	82					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.K82E(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TGGACCTCTTTGGCATGAAAG	0.602																																						uc002oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(244-246)AAA>GAA		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						77.0	67.0	70.0					19																	44280704		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44280704T>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.244A>G	19.37:g.44280704T>C	ENSP00000262888:p.Lys82Glu					KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_RNA	p.K82E	NM_002250	NP_002241	O15554	KCNN4_HUMAN			2	640	-		Prostate(69;0.0352)	82					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.244A>G	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.79|14.79	2.640277|2.640277	0.47153|0.47153	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99856|.	-7.21|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.321512|.	0.27886|.	N|.	0.017443|.	T|T	0.34135|0.34135	0.0887|0.0887	L|L	0.33485|0.33485	1.01|1.01	0.31396|0.31396	N|N	0.677243|0.677243	P|.	0.40578|.	0.722|.	B|.	0.42625|.	0.393|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|6	0.31617|0.07325	T|T	0.26|0.83	-4.5964|-4.5964	9.4621|9.4621	0.38792|0.38792	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	82|.	O15554|.	KCNN4_HUMAN|.	E|R	82|20	ENSP00000262888:K82E|.	ENSP00000262888:K82E|ENSP00000384427:Q20R	K|Q	-|-	1|2	0|0	KCNN4|KCNN4	48972544|48972544	0.164000|0.164000	0.22935|0.22935	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	1.131000|1.131000	0.31406|0.31406	1.399000|1.399000	0.46721|0.46721	0.449000|0.449000	0.29647|0.29647	AAA|CAA		PASS	0.602	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		18	70	18	70	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44934632	44934632	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:44934632G>C	ENST00000588931.1	-	6	757	c.324C>G	c.(322-324)atC>atG	p.I108M	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.I102M	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	108	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I108M(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCTCTTCCCAGATTTTGCATG	0.428																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(322-324)ATC>ATG		zinc finger protein 229							64.0	62.0	63.0					19																	44934632		1848	4088	5936	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934632G>C	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.324C>G	19.37:g.44934632G>C	ENSP00000466519:p.Ile108Met					ZNF229_uc010ejk.1_Translation_Start_Site|ZNF229_uc010ejl.1_Missense_Mutation_p.I102M	p.I108M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	758	-		Prostate(69;0.0352)	108			KRAB.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.324C>G	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529935	0.13127	.	.	ENSG00000167383	ENST00000291187	.	.	.	2.6	0.286	0.15710	Krueppel-associated box (1);	.	.	.	.	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999997	B	0.26363	0.147	B	0.18561	0.022	T	0.18116	-1.0347	8	0.36615	T	0.2	.	10.0457	0.42186	0.0:0.4301:0.5699:0.0	.	108	Q9UJW7	ZN229_HUMAN	M	108	.	ENSP00000291187:I108M	I	-	3	3	ZNF229	49626472	0.820000	0.29190	0.077000	0.20336	0.080000	0.17528	0.641000	0.24720	0.151000	0.19162	-0.235000	0.12190	ATC		PASS	0.428	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		37	131	37	131	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46313864	46313864	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:46313864C>A	ENST00000221538.3	-	2	1027	c.885G>T	c.(883-885)gaG>gaT	p.E295D	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E295D|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E31D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	295						intracellular (GO:0005622)		p.E295D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CACTCACCACCTCCTCCTCCA	0.617																																						uc002pdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(883-885)GAG>GAT		radial spokehead-like 1							224.0	202.0	210.0					19																	46313864		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46313864C>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.885G>T	19.37:g.46313864C>A	ENSP00000221538:p.Glu295Asp					RSPH6A_uc002pdl.2_Missense_Mutation_p.E31D	p.E295D	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			2	1028	-			295					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.885G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799164	0.70567	.	.	ENSG00000104941	ENST00000221538	T	0.18810	2.19	4.82	3.79	0.43588	.	0.173065	0.49916	D	0.000128	T	0.34395	0.0896	L	0.43152	1.355	0.35709	D	0.816242	D	0.76494	0.999	D	0.85130	0.997	T	0.34104	-0.9842	10	0.30078	T	0.28	-6.508	11.3637	0.49660	0.0:0.9106:0.0:0.0894	.	295	Q9H0K4	RSH6A_HUMAN	D	295	ENSP00000221538:E295D	ENSP00000221538:E295D	E	-	3	2	RSPH6A	51005704	0.663000	0.27448	1.000000	0.80357	0.994000	0.84299	-0.195000	0.09546	1.410000	0.46936	0.650000	0.86243	GAG		PASS	0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			99	244	99	244	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49967959	49967959	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:49967959A>G	ENST00000293350.4	+	12	1671	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452C|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340C|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	503						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.Y503C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AACCTGAACTATGACACCTTT	0.622																																						uc002pnt.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1507-1509)TAT>TGT		aldehyde dehydrogenase 16 family, member A1							140.0	145.0	143.0					19																	49967959		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49967959A>G	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1508A>G	19.37:g.49967959A>G	ENSP00000293350:p.Tyr503Cys					ALDH16A1_uc010yar.1_Missense_Mutation_p.Y452C|ALDH16A1_uc010yas.1_Missense_Mutation_p.Y338C|ALDH16A1_uc010yat.1_Missense_Mutation_p.Y340C	p.Y503C	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	12	1624	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	503					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1508A>G	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320086	0.41096	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.73575	-0.76;-0.51;-0.68;-0.68	4.67	4.67	0.58626	Aldehyde/histidinol dehydrogenase (1);	0.851521	0.10407	N	0.678413	T	0.71247	0.3317	N	0.08118	0	0.40141	D	0.976836	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73380	0.98;0.921;0.956	T	0.66468	-0.5916	10	0.38643	T	0.18	-6.7222	8.4009	0.32586	0.8015:0.1985:0.0:0.0	.	340;452;503	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	503;452;340;338	ENSP00000293350:Y503C;ENSP00000410142:Y452C;ENSP00000445088:Y340C;ENSP00000398675:Y338C	ENSP00000293350:Y503C	Y	+	2	0	ALDH16A1	54659771	0.997000	0.39634	0.988000	0.46212	0.587000	0.36485	3.065000	0.49994	1.950000	0.56595	0.459000	0.35465	TAT		PASS	0.622	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		114	294	114	294	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50208306	50208306	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:50208306G>T	ENST00000392518.4	+	9	1186	c.814G>T	c.(814-816)Gct>Tct	p.A272S	CPT1C_ENST00000323446.5_Missense_Mutation_p.A272S|CPT1C_ENST00000598293.1_Missense_Mutation_p.A272S|CPT1C_ENST00000405931.2_Missense_Mutation_p.A261S|CPT1C_ENST00000354199.5_Missense_Mutation_p.A272S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	272					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A272S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCAGCTCGCGCTGGGAATGC	0.647																																						uc002ppj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(814-816)GCT>TCT		carnitine palmitoyltransferase 1C isoform 2							64.0	69.0	68.0					19																	50208306		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208306G>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.814G>T	19.37:g.50208306G>T	ENSP00000376303:p.Ala272Ser					CPT1C_uc002ppl.3_Missense_Mutation_p.A238S|CPT1C_uc002ppi.2_Missense_Mutation_p.A189S|CPT1C_uc002ppk.2_Missense_Mutation_p.A261S|CPT1C_uc010eng.2_Missense_Mutation_p.A272S|CPT1C_uc010enh.2_Missense_Mutation_p.A272S|CPT1C_uc010ybc.1_Missense_Mutation_p.A110S|CPT1C_uc010eni.1_5'Flank	p.A272S	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	8	1019	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	272			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.814G>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232386	0.79688	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	4.34	4.34	0.51931	.	0.000000	0.47455	D	0.000239	D	0.97077	0.9045	M	0.82517	2.595	0.52099	D	0.999948	D;D;D;D	0.89917	0.995;1.0;0.959;0.993	D;D;P;P	0.71414	0.973;0.964;0.677;0.861	D	0.97735	1.0205	10	0.72032	D	0.01	-17.2069	15.7686	0.78146	0.0:0.0:1.0:0.0	.	110;272;261;272	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	S	272;272;261;272;110	ENSP00000376303:A272S;ENSP00000346138:A272S;ENSP00000384465:A261S;ENSP00000319343:A272S	ENSP00000295404:A110S	A	+	1	0	CPT1C	54900118	1.000000	0.71417	0.060000	0.19600	0.777000	0.43975	5.711000	0.68400	2.260000	0.74910	0.561000	0.74099	GCT		PASS	0.647	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		36	106	36	106	---	---	---	---
AP2A1	160	broad.mit.edu	37	19	50303388	50303388	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:50303388C>G	ENST00000359032.5	+	11	1436	c.1436C>G	c.(1435-1437)gCc>gGc	p.A479G	AP2A1_ENST00000354293.5_Missense_Mutation_p.A479G	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.A479G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAGGGCTATGCCGCCAAGACC	0.612																																						uc002ppn.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1435-1437)GCC>GGC		adaptor-related protein complex 2, alpha 1							70.0	78.0	75.0					19																	50303388		2149	4241	6390	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50303388C>G	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1436C>G	19.37:g.50303388C>G	ENSP00000351926:p.Ala479Gly					AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.A479G|AP2A1_uc002ppp.1_5'Flank	p.A479G	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	11	1647	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	479					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1436C>G	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618481	0.87359	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.41758	0.99;0.99	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.91249	3.19	0.80722	D	1	P;P	0.52061	0.919;0.95	P;P	0.62014	0.771;0.897	T	0.78051	-0.2355	10	0.72032	D	0.01	.	16.4522	0.83994	0.0:1.0:0.0:0.0	.	479;479	O95782-2;O95782	.;AP2A1_HUMAN	G	479	ENSP00000346246:A479G;ENSP00000351926:A479G	ENSP00000346246:A479G	A	+	2	0	AP2A1	54995200	1.000000	0.71417	0.640000	0.29408	0.866000	0.49608	7.582000	0.82546	2.400000	0.81607	0.462000	0.41574	GCC		PASS	0.612	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			7	22	7	22	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53385189	53385189	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:53385189C>T	ENST00000595635.1	-	8	691	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	ZNF320_ENST00000391781.2_Missense_Mutation_p.G64S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G64S(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGTATTGCCTTGCCCTGTT	0.373																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GGC>AGC		zinc finger protein 320							155.0	152.0	153.0					19																	53385189		2203	4299	6502	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53385189C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.190G>A	19.37:g.53385189C>T	ENSP00000473091:p.Gly64Ser					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.G10S|ZNF320_uc002qai.2_Missense_Mutation_p.G64S	p.G64S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	381	-			64			KRAB.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.190G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	0.854	-0.737737	0.03111	.	.	ENSG00000182986	ENST00000391781	T	0.06687	3.27	1.41	0.33	0.15929	Krueppel-associated box (3);	.	.	.	.	T	0.04861	0.0131	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46992	-0.9151	9	0.09084	T	0.74	.	3.1476	0.06477	0.0:0.2715:0.0:0.7285	.	64	A2RRD8	ZN320_HUMAN	S	64	ENSP00000375660:G64S	ENSP00000375660:G64S	G	-	1	0	ZNF320	58077001	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.169000	0.09911	0.052000	0.16007	0.184000	0.17185	GGC		PASS	0.373	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		101	249	101	249	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401253	54401253	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:54401253C>A	ENST00000263431.3	+	10	1262	c.980C>A	c.(979-981)cCt>cAt	p.P327H	PRKCG_ENST00000542049.1_Missense_Mutation_p.P214H|PRKCG_ENST00000536044.1_Missense_Mutation_p.L298I|PRKCG_ENST00000540413.1_Missense_Mutation_p.P327H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	327					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.P327H(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	atcccctccccttccccTAGT	0.582																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(979-981)CCT>CAT		protein kinase C, gamma							74.0	75.0	75.0					19																	54401253		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401253C>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.980C>A	19.37:g.54401253C>A	ENSP00000263431:p.Pro327His					PRKCG_uc010yef.1_Missense_Mutation_p.L298I|PRKCG_uc010yeg.1_Missense_Mutation_p.P327H|PRKCG_uc010yeh.1_Missense_Mutation_p.P214H	p.P327H	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1262	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		327					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.980C>A	CCDS12867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864467|2.864467	0.51482|0.51482	.|.	.|.	ENSG00000126583|ENSG00000126583	ENST00000536044|ENST00000540413;ENST00000263431;ENST00000542049	T|T;T;T	0.78003|0.71222	-1.14|-0.55;-0.54;-0.55	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.67618|0.67618	0.2912|0.2912	L|L	0.27053|0.27053	0.805|0.805	0.39654|0.39654	D|D	0.970517|0.970517	B|D;B;B	0.02656|0.63046	0.0|0.992;0.006;0.134	B|P;B;B	0.08055|0.50970	0.003|0.655;0.004;0.227	T|T	0.69480|0.69480	-0.5134|-0.5134	9|9	0.35671|0.39692	T|T	0.21|0.17	.|.	16.4684|16.4684	0.84092|0.84092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	298|214;327;327	B7Z870|B7Z8Q0;F5H5C4;P05129	.|.;.;KPCG_HUMAN	I|H	298|327;327;214	ENSP00000440541:L298I|ENSP00000443493:P327H;ENSP00000263431:P327H;ENSP00000438090:P214H	ENSP00000440541:L298I|ENSP00000263431:P327H	L|P	+|+	1|2	0|0	PRKCG|PRKCG	59093065|59093065	0.031000|0.031000	0.19500|0.19500	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	1.451000|1.451000	0.35145|0.35145	2.580000|2.580000	0.87095|0.87095	0.484000|0.484000	0.47621|0.47621	CTT|CCT		PASS	0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		41	92	41	92	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54783386	54783386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:54783386C>A	ENST00000391749.4	-	5	743	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E158*|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.E158*|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E42*|LILRB2_ENST00000391748.1_Nonsense_Mutation_p.E158*	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	158	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.E158*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCTCCTTCCTTACACAGA	0.622																																						uc002qfb.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(472-474)GAA>TAA		leukocyte immunoglobulin-like receptor,							113.0	109.0	110.0					19																	54783386		2203	4300	6503	SO:0001587	stop_gained	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783386C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.472G>T	19.37:g.54783386C>A	ENSP00000375629:p.Glu158*					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Nonsense_Mutation_p.E158*|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Nonsense_Mutation_p.E158*|LILRB2_uc010yet.1_Nonsense_Mutation_p.E42*|LILRB2_uc010yeu.1_RNA	p.E158*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	738	-	Ovarian(34;0.19)		158			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Nonsense_Mutation	SNP	ENST00000391749.4	37	c.472G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261985	0.95368	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	.	.	.	2.41	2.41	0.29592	.	0.721152	0.12390	N	0.473077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.0076	0.36122	0.0:1.0:0.0:0.0	.	.	.	.	X	158;158;158;158;42	.	ENSP00000319960:E158X	E	-	1	0	LILRB2	59475198	0.003000	0.15002	0.005000	0.12908	0.059000	0.15707	0.844000	0.27654	1.336000	0.45506	0.289000	0.19496	GAA		PASS	0.622	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			41	89	41	89	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59010244	59010244	+	Missense_Mutation	SNP	C	C	T	rs370377916		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:59010244C>T	ENST00000263093.2	-	9	1913	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A518T|SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000594786.1_Missense_Mutation_p.A7T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	602					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A602T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGGCCGGGGGCTAGCTGCACA	0.622																																						uc002qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1804-1806)GCC>ACC		solute carrier family 27 (fatty acid		C	THR/ALA	0,4406		0,0,2203	54.0	54.0	54.0		1804	2.8	0.9	19		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC27A5	NM_012254.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	602/691	59010244	1,13005	2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010244C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1804G>A	19.37:g.59010244C>T	ENSP00000263093:p.Ala602Thr					SLC27A5_uc002qtb.2_RNA	p.A602T	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	9	1914	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	602			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1804G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348571	0.61183	0.0	1.16E-4	ENSG00000083807	ENST00000263093	T	0.50277	0.75	4.99	2.82	0.32997	.	0.754756	0.12454	N	0.467513	T	0.35856	0.0946	L	0.35854	1.095	0.28819	N	0.897817	B	0.15473	0.013	B	0.12156	0.007	T	0.25117	-1.0141	10	0.39692	T	0.17	-6.9868	8.1744	0.31272	0.0:0.8012:0.0:0.1988	.	602	Q9Y2P5	S27A5_HUMAN	T	602	ENSP00000263093:A602T	ENSP00000263093:A602T	A	-	1	0	SLC27A5	63702056	0.345000	0.24835	0.927000	0.36925	0.954000	0.61252	0.990000	0.29642	1.226000	0.43582	0.650000	0.86243	GCC		PASS	0.622	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		4	86	4	86	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13868588	13868588	+	Splice_Site	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:13868588C>T	ENST00000284951.5	-	7	737	c.663G>A	c.(661-663)ttG>ttA	p.L221L	SEL1L2_ENST00000378072.5_Splice_Site_p.L221L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	221						integral component of membrane (GO:0016021)		p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358																																						uc010gcf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(661-663)TTG>TTA		sel-1 suppressor of lin-12-like 2 precursor							82.0	77.0	78.0					20																	13868588		1818	4086	5904	SO:0001630	splice_region_variant	80343					integral to membrane	binding	g.chr20:13868588C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.663+1G>A	20.37:g.13868588C>T						SEL1L2_uc002woq.3_Silent_p.L82L|SEL1L2_uc010zrl.1_Silent_p.L221L|SEL1L2_uc002wor.2_RNA	p.L221L	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			7	745	-			221			Sel1-like 4.|Extracellular (Potential).		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.663G>A																																																																																					PASS	0.358	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	Silent	32	124	32	124	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17446118	17446118	+	Silent	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:17446118T>A	ENST00000262545.2	+	11	1665	c.1350T>A	c.(1348-1350)ggT>ggA	p.G450G	PCSK2_ENST00000377899.1_Silent_p.G431G|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.G415G	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	450	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.G450G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGATGCAGGTGCCATGGTGA	0.567																																						uc002wpm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1348-1350)GGT>GGA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84.0	68.0	73.0					20																	17446118		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446118T>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1350T>A	20.37:g.17446118T>A						PCSK2_uc002wpl.2_Silent_p.G431G|PCSK2_uc010zrm.1_Silent_p.G415G|PCSK2_uc002wpn.2_Silent_p.G104G	p.G450G	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1670	+			450					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1350T>A	CCDS13125.1																																																																																				PASS	0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		13	60	13	60	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25481510	25481510	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:25481510T>A	ENST00000278886.6	-	8	1071	c.998A>T	c.(997-999)cAg>cTg	p.Q333L	NINL_ENST00000422516.1_Missense_Mutation_p.Q333L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	333					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.Q333L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AATCCCCTCCTGGGTCCACAT	0.597																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(997-999)CAG>CTG		ninein-like							96.0	86.0	89.0					20																	25481510		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481510T>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.998A>T	20.37:g.25481510T>A	ENSP00000278886:p.Gln333Leu					NINL_uc010gdn.1_Missense_Mutation_p.Q333L|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.Q349L	p.Q333L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			8	1072	-			333					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.998A>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326195	0.60743	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.30714	1.76;1.52	4.81	4.81	0.61882	.	0.075967	0.53938	D	0.000055	T	0.43875	0.1267	L	0.53249	1.67	0.39923	D	0.974188	D;D	0.76494	0.996;0.999	P;D	0.71184	0.871;0.972	T	0.34725	-0.9817	10	0.09084	T	0.74	-36.94	11.9838	0.53135	0.0:0.0:0.0:1.0	.	333;333	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	L	333	ENSP00000278886:Q333L;ENSP00000410431:Q333L	ENSP00000278886:Q333L	Q	-	2	0	NINL	25429510	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	3.224000	0.51238	2.028000	0.59812	0.460000	0.39030	CAG		PASS	0.597	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		13	66	13	66	---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30419933	30419933	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:30419933C>T	ENST00000375994.2	+	11	1977	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R	MYLK2_ENST00000375985.4_Silent_p.R568R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	568					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.R568R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGAAGAGGCGCTGGAAGGTAC	0.587																																						uc002wwq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(1702-1704)CGC>CGT		skeletal myosin light chain kinase							31.0	28.0	29.0					20																	30419933		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30419933C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1704C>T	20.37:g.30419933C>T						MYLK2_uc002wws.2_Silent_p.R185R|MYLK2_uc010gdw.1_RNA	p.R568R	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		12	1806	+			568					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.1704C>T	CCDS13191.1																																																																																				PASS	0.587	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		8	17	8	17	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30785030	30785030	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:30785030T>C	ENST00000246229.4	-	3	980	c.716A>G	c.(715-717)aAg>aGg	p.K239R		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	239					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K239R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGCTCTTCTTGACATGACG	0.582																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(715-717)AAG>AGG		pleiomorphic adenoma gene-like 2							91.0	65.0	74.0					20																	30785030		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785030T>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.716A>G	20.37:g.30785030T>C	ENSP00000246229:p.Lys239Arg						p.K239R	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	933	-			239			C2H2-type 6.		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.716A>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726282	0.69074	.	.	ENSG00000126003	ENST00000246229	T	0.75821	-0.97	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	N	0.05330	-0.07	0.58432	D	0.999997	D	0.76494	0.999	D	0.91635	0.999	T	0.71224	-0.4656	10	0.21014	T	0.42	.	14.8761	0.70496	0.0:0.0:0.0:1.0	.	239	Q9UPG8	PLAL2_HUMAN	R	239	ENSP00000246229:K239R	ENSP00000246229:K239R	K	-	2	0	PLAGL2	30248691	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.116000	0.64780	0.454000	0.30748	AAG		PASS	0.582	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		19	31	19	31	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41101061	41101061	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:41101061T>A	ENST00000373187.1	-	8	1294	c.1295A>T	c.(1294-1296)cAg>cTg	p.Q432L	PTPRT_ENST00000373201.1_Missense_Mutation_p.Q432L|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q432L|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q432L|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q432L|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q432L|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q432L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	432	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Q432L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTACTGCTGCTGGTTGAACAC	0.627																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1294-1296)CAG>CTG		protein tyrosine phosphatase, receptor type, T							70.0	75.0	73.0					20																	41101061		2140	4255	6395	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101061T>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1295A>T	20.37:g.41101061T>A	ENSP00000362283:p.Gln432Leu					PTPRT_uc010ggj.2_Missense_Mutation_p.Q432L	p.Q432L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1479	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	432			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1295A>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697671	0.48307	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.058035	0.64402	D	0.000001	T	0.36826	0.0981	N	0.25647	0.755	0.54753	D	0.999983	B;B	0.17465	0.022;0.013	B;B	0.17098	0.017;0.005	T	0.11867	-1.0570	10	0.31617	T	0.26	.	15.2113	0.73225	0.0:0.0:0.0:1.0	.	432;432	O14522-1;O14522	.;PTPRT_HUMAN	L	432	ENSP00000362286:Q432L;ENSP00000362283:Q432L;ENSP00000362289:Q432L;ENSP00000348408:Q432L;ENSP00000362294:Q432L;ENSP00000362280:Q432L;ENSP00000362297:Q432L	ENSP00000348408:Q432L	Q	-	2	0	PTPRT	40534475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.009000	0.58944	0.379000	0.24179	CAG		PASS	0.627	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			57	81	57	81	---	---	---	---
AURKA	6790	broad.mit.edu	37	20	54963223	54963223	+	Nonsense_Mutation	SNP	C	C	A	rs6069717	byFrequency	TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:54963223C>A	ENST00000347343.2	-	2	298	c.31G>T	c.(31-33)Gga>Tga	p.G11*	AURKA_ENST00000371356.2_Nonsense_Mutation_p.G11*|AURKA_ENST00000395909.4_Nonsense_Mutation_p.G11*|AURKA_ENST00000312783.6_Nonsense_Mutation_p.G11*|AURKA_ENST00000395911.1_Nonsense_Mutation_p.G11*|AURKA_ENST00000395914.1_Nonsense_Mutation_p.G11*|AURKA_ENST00000395913.3_Nonsense_Mutation_p.G11*|AURKA_ENST00000395915.3_Nonsense_Mutation_p.G11*|AURKA_ENST00000395907.1_Nonsense_Mutation_p.G11*	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G11*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	uc002xxd.1																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8						c.(31-33)GGA>TGA		serine/threonine protein kinase 6							109.0	116.0	114.0					20																	54963223		2203	4300	6503	SO:0001587	stop_gained	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54963223C>A	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.31G>T	20.37:g.54963223C>A	ENSP00000216911:p.Gly11*					AURKA_uc002xxe.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxf.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxg.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxh.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxi.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxj.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxk.1_Nonsense_Mutation_p.G11*|AURKA_uc010zzd.1_RNA	p.G11*	NM_198433	NP_940835	O14965	AURKA_HUMAN	Colorectal(105;0.202)		4	597	-			11					E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Nonsense_Mutation	SNP	ENST00000347343.2	37	c.31G>T	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	40	8.027553	0.98616	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	.	.	.	4.59	3.64	0.41730	.	0.401886	0.21909	N	0.067334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-34.2481	7.6454	0.28316	0.0:0.8821:0.0:0.1179	.	.	.	.	X	11	.	ENSP00000321591:G11X	G	-	1	0	AURKA	54396630	0.751000	0.28327	0.519000	0.27824	0.762000	0.43233	1.167000	0.31847	1.110000	0.41699	0.585000	0.79938	GGA		PASS	0.383	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		12	231	12	231	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60835156	60835156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:60835156C>T	ENST00000313733.3	+	3	359	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	OSBPL2_ENST00000358053.2_Nonsense_Mutation_p.Q41*|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	53					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.Q53*(1)|p.Q53E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAGGCCCTCTCAAGAGAACGG	0.438																																						uc002yck.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(157-159)CAA>TAA		oxysterol-binding protein-like protein 2 isoform							86.0	89.0	88.0					20																	60835156		2203	4300	6503	SO:0001587	stop_gained	9885				lipid transport		lipid binding	g.chr20:60835156C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.157C>T	20.37:g.60835156C>T	ENSP00000316649:p.Gln53*					OSBPL2_uc002ycl.1_Nonsense_Mutation_p.Q41*|OSBPL2_uc011aah.1_Intron	p.Q53*	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		3	359	+	Breast(26;7.76e-09)		53					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Nonsense_Mutation	SNP	ENST00000313733.3	37	c.157C>T	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206667	0.58343	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	.	.	.	4.48	3.51	0.40186	.	0.872349	0.09978	N	0.731426	.	.	.	.	.	.	0.24673	N	0.993404	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-16.4034	11.811	0.52183	0.0:0.8216:0.1784:0.0	.	.	.	.	X	41;53	.	ENSP00000316649:Q53X	Q	+	1	0	OSBPL2	60268551	0.188000	0.23250	0.004000	0.12327	0.086000	0.17979	3.162000	0.50755	0.955000	0.37878	0.655000	0.94253	CAA		PASS	0.438	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		20	141	20	141	---	---	---	---
ZGPAT	84619	broad.mit.edu	37	20	62340111	62340111	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr20:62340111G>C	ENST00000328969.5	+	2	306	c.179G>C	c.(178-180)aGc>aCc	p.S60T	ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.S60T|ARFRP1_ENST00000324228.2_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.S60T|RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000448100.2_Missense_Mutation_p.S60T|ZGPAT_ENST00000357119.4_Missense_Mutation_p.S60T	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	60					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S60T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTCAGGAAGAGCAGCTTGTTG	0.657																																						uc002ygk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)AGC>ACC		zinc finger, CCCH-type with G patch domain							46.0	50.0	49.0					20																	62340111		2203	4298	6501	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340111G>C	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.179G>C	20.37:g.62340111G>C	ENSP00000332013:p.Ser60Thr					ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.S60T|ZGPAT_uc002ygj.2_Missense_Mutation_p.S60T|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.S60T|ZGPAT_uc002ygm.2_Missense_Mutation_p.S60T|ZGPAT_uc002ygn.3_RNA	p.S60T	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	357	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		60					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.179G>C	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506475	0.85282	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.68039	0.948;0.955;0.948	T	0.67511	-0.5652	10	0.56958	D	0.05	.	15.0926	0.72207	0.0:0.0:1.0:0.0	.	60;60;60	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	T	60	ENSP00000391176:S60T;ENSP00000348242:S60T;ENSP00000349634:S60T;ENSP00000403966:S60T;ENSP00000358984:S60T;ENSP00000332013:S60T	ENSP00000332013:S60T	S	+	2	0	ZGPAT	61810555	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	8.871000	0.92346	1.978000	0.57642	0.561000	0.74099	AGC		PASS	0.657	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		20	111	20	111	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16337882	16337882	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:16337882C>A	ENST00000400202.1	-	3	3344	c.2632G>T	c.(2632-2634)Gtt>Ttt	p.V878F	NRIP1_ENST00000400199.1_Missense_Mutation_p.V878F|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.V878F			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	878	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V878F(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCAGCATCAACAATGTTGTTT	0.363																																						uc002yjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2632-2634)GTT>TTT		nuclear receptor interacting protein 1							117.0	118.0	118.0					21																	16337882		2203	4299	6502	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337882C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2632G>T	21.37:g.16337882C>A	ENSP00000383063:p.Val878Phe						p.V878F	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3230	-			878			Repression domain 3.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.2632G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	6.192	0.403682	0.11754	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.10005	2.92;2.92;2.92	5.87	2.83	0.33086	.	0.589102	0.16233	N	0.223484	T	0.07773	0.0195	N	0.22421	0.69	0.09310	N	1	B	0.33212	0.402	B	0.33521	0.165	T	0.26985	-1.0087	10	0.54805	T	0.06	-7.0388	8.4765	0.33016	0.3118:0.4739:0.2143:0.0	.	878	P48552	NRIP1_HUMAN	F	878	ENSP00000383060:V878F;ENSP00000383063:V878F;ENSP00000327213:V878F	ENSP00000327213:V878F	V	-	1	0	NRIP1	15259753	0.014000	0.17966	0.051000	0.19133	0.158000	0.22134	0.370000	0.20433	0.884000	0.36064	0.655000	0.94253	GTT		PASS	0.363	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		62	220	62	220	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17242405	17242405	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:17242405A>T	ENST00000285679.6	+	21	2983	c.2614A>T	c.(2614-2616)Agg>Tgg	p.R872W	USP25_ENST00000351097.5_Missense_Mutation_p.R267W|USP25_ENST00000400183.2_Missense_Mutation_p.R942W|USP25_ENST00000285681.2_Missense_Mutation_p.R904W	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	872					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R872W(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCAGGATTATAGGAAATTCAG	0.308																																						uc002yjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(2614-2616)AGG>TGG		ubiquitin specific peptidase 25							87.0	98.0	94.0					21																	17242405		2203	4297	6500	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17242405A>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2614A>T	21.37:g.17242405A>T	ENSP00000285679:p.Arg872Trp					USP25_uc011aby.1_Missense_Mutation_p.R942W|USP25_uc002yjz.1_Missense_Mutation_p.R904W|USP25_uc010gla.1_Missense_Mutation_p.R267W	p.R872W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	21	2831	+			872					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.2614A>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213745	0.79352	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.32753	1.83;1.84;1.44;1.81	5.71	5.71	0.89125	.	0.138129	0.64402	D	0.000003	T	0.51346	0.1669	L	0.57536	1.79	0.50313	D	0.999865	D;D;D;D	0.71674	0.995;0.998;0.957;0.993	P;D;P;P	0.68192	0.879;0.956;0.729;0.72	T	0.52442	-0.8575	10	0.66056	D	0.02	.	15.1697	0.72862	1.0:0.0:0.0:0.0	.	942;267;904;872	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	W	904;872;267;942	ENSP00000285681:R904W;ENSP00000285679:R872W;ENSP00000299574:R267W;ENSP00000383044:R942W	ENSP00000285679:R872W	R	+	1	2	USP25	16164276	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.278000	0.65592	2.178000	0.69098	0.482000	0.46254	AGG		PASS	0.308	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			44	160	44	160	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802905	31802905	+	Silent	SNP	G	G	T	rs150222104		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:31802905G>T	ENST00000334068.2	+	1	334	c.312G>T	c.(310-312)tcG>tcT	p.S104S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	104						intermediate filament (GO:0005882)		p.S104S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GCTGCTACTCGCTGGGAAATG	0.532																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)TCG>TCT		keratin associated protein 13-4							101.0	83.0	89.0					21																	31802905		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802905G>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.312G>T	21.37:g.31802905G>T							p.S104S	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	312	+			104					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.312G>T	CCDS13592.1																																																																																				PASS	0.532	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			9	27	9	27	---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45535237	45535237	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:45535237A>T	ENST00000291576.7	+	6	690	c.563A>T	c.(562-564)aAg>aTg	p.K188M		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	188					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.K188M(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGGGACATAAGGATGCCATC	0.547																																						uc002zeb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(562-564)AAG>ATG		PWP2 periodic tryptophan protein homolog							184.0	174.0	177.0					21																	45535237		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45535237A>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.563A>T	21.37:g.45535237A>T	ENSP00000291576:p.Lys188Met						p.K188M	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	6	653	+			188			WD 5.		B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.563A>T	CCDS33579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.17|14.17	2.455292|2.455292	0.43634|0.43634	.|.	.|.	ENSG00000241945|ENSG00000241945	ENST00000291576|ENST00000456705	T|T	0.41758|0.56444	0.99|0.46	4.46|4.46	4.46|4.46	0.54185|0.54185	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70211|0.70211	0.3198|0.3198	M|M	0.82323|0.82323	2.585|2.585	0.53688|0.53688	D|D	0.999971|0.999971	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.75703|0.75703	-0.3225|-0.3225	10|7	0.62326|0.66056	D|D	0.03|0.02	-18.8164|-18.8164	13.7192|13.7192	0.62717|0.62717	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	188|.	Q15269|.	PWP2_HUMAN|.	M|W	188|155	ENSP00000291576:K188M|ENSP00000411749:R155W	ENSP00000291576:K188M|ENSP00000411749:R155W	K|R	+|+	2|1	0|2	PWP2|PWP2	44359665|44359665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	5.993000|5.993000	0.70616|0.70616	1.804000|1.804000	0.52760|0.52760	0.533000|0.533000	0.62120|0.62120	AAG|AGG		PASS	0.547	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		50	132	50	132	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47704633	47704634	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:47704633_47704634CC>AA	ENST00000397708.1	-	2	821_822	c.567_568GG>TT	c.(565-570)ctGGcc>ctTTcc	p.A190S	YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A190S|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	190	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.A190S(2)|p.L189L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAGAAAGGGGCCAGGCCTCCAG	0.416																																						uc002zir.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(568-570)GCC>TCC|c.(565-567)CTG>CTT		minichromosome maintenance complex component 3																																				SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704633C>A|g.chr21:47704634C>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.567_568delinsAA	21.37:g.47704633_47704634delinsAA	ENSP00000380820:p.Ala190Ser					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.A190S|p.L189L	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	604|603	-	Breast(49;0.112)		190|189					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation|Silent	SNP	ENST00000397708.1	37	c.568G>T|c.567G>T	CCDS13734.1																																																																																				PASS	0.416	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		36	69|68	36	68	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47970476	47970476	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr21:47970476G>T	ENST00000417564.2	+	23	2679	c.2658G>T	c.(2656-2658)caG>caT	p.Q886H	DIP2A_ENST00000318711.7_Missense_Mutation_p.Q887H|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q882H|DIP2A_ENST00000427143.2_Missense_Mutation_p.Q822H			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	886					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q886H(1)|p.Q822H(1)|p.Q887H(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCATCCACCAGGTGGGCGTGT	0.582																																						uc002zjo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2656-2658)CAG>CAT		disco-interacting protein 2A isoform a							61.0	63.0	62.0					21																	47970476		1995	4162	6157	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47970476G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2658G>T	21.37:g.47970476G>T	ENSP00000392066:p.Gln886His					DIP2A_uc011afy.1_Missense_Mutation_p.Q822H|DIP2A_uc011afz.1_Missense_Mutation_p.Q882H	p.Q886H	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	23	2841	+	Breast(49;0.0933)		886					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2658G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684753	0.68157	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.26	4.37	0.52481	.	0.070865	0.64402	D	0.000017	T	0.23649	0.0572	M	0.70595	2.14	0.80722	D	1	D;D;D	0.63880	0.993;0.988;0.988	D;P;P	0.63033	0.91;0.873;0.896	T	0.01165	-1.1431	10	0.18710	T	0.47	-22.3229	9.273	0.37684	0.1517:0.0:0.8483:0.0	.	887;822;886	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	H	882;822;887;886	ENSP00000383133:Q882H;ENSP00000400528:Q822H;ENSP00000323633:Q887H;ENSP00000392066:Q886H	ENSP00000323633:Q887H	Q	+	3	2	DIP2A	46794904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.993000	0.49425	2.639000	0.89480	0.655000	0.94253	CAG		PASS	0.582	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	19	5	19	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26692894	26692894	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr22:26692894T>C	ENST00000248933.6	+	4	1105	c.1010T>C	c.(1009-1011)aTc>aCc	p.I337T	SEZ6L_ENST00000403121.1_Missense_Mutation_p.I110T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.I337T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.I337T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I110T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I337T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.I337T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	337	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.I337T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCTCTCCATCCGCGGGGTG	0.592																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1009-1011)ATC>ACC		seizure related 6 homolog (mouse)-like							62.0	47.0	52.0					22																	26692894		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26692894T>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1010T>C	22.37:g.26692894T>C	ENSP00000248933:p.Ile337Thr					SEZ6L_uc003acc.2_Missense_Mutation_p.I337T|SEZ6L_uc011akc.1_Missense_Mutation_p.I337T|SEZ6L_uc003acd.2_Missense_Mutation_p.I337T|SEZ6L_uc011akd.1_Missense_Mutation_p.I337T|SEZ6L_uc003ace.2_Missense_Mutation_p.I337T|SEZ6L_uc003acf.1_Missense_Mutation_p.I110T|SEZ6L_uc010gvc.1_Missense_Mutation_p.I110T	p.I337T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			4	1166	+			337			CUB 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1010T>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295695	0.60086	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.97	4.97	0.65823	CUB (5);	0.105342	0.39909	N	0.001228	T	0.79707	0.4492	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.991;0.997;0.999;0.998;0.99;0.999;0.997	T	0.82178	-0.0586	10	0.87932	D	0	.	13.8169	0.63297	0.0:0.0:0.0:1.0	.	337;337;110;337;337;337;337	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	337;337;337;337;337;110;110	ENSP00000384772:I337T;ENSP00000437037:I337T;ENSP00000354185:I337T;ENSP00000248933:I337T;ENSP00000342661:I337T;ENSP00000384838:I110T;ENSP00000384733:I110T	ENSP00000248933:I337T	I	+	2	0	SEZ6L	25022894	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.514000	0.81750	1.859000	0.53934	0.460000	0.39030	ATC		PASS	0.592	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			18	26	18	26	---	---	---	---
TAB1	10454	broad.mit.edu	37	22	39824179	39824179	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr22:39824179C>T	ENST00000216160.6	+	10	1360	c.1298C>T	c.(1297-1299)aCc>aTc	p.T433I	TAB1_ENST00000331454.3_Missense_Mutation_p.T433I	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	433					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)	p.T433I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCCACCCCCACCCTCACCAAG	0.642																																						uc003axt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1297-1299)ACC>ATC		mitogen-activated protein kinase kinase kinase 7							116.0	88.0	98.0					22																	39824179		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39824179C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1298C>T	22.37:g.39824179C>T	ENSP00000216160:p.Thr433Ile					TAB1_uc003axr.2_Missense_Mutation_p.T509I|TAB1_uc011aok.1_Missense_Mutation_p.T267I|TAB1_uc003axu.1_Missense_Mutation_p.T433I	p.T433I	NM_006116	NP_006107	Q15750	TAB1_HUMAN			10	1347	+			433					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1298C>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069069	0.76301	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.55413	0.72;0.52	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	L	0.47716	1.5	0.80722	D	1	D;P;D	0.76494	0.999;0.917;0.999	D;B;D	0.80764	0.994;0.368;0.991	T	0.68591	-0.5368	10	0.56958	D	0.05	-27.2691	19.4258	0.94741	0.0:1.0:0.0:0.0	.	433;433;577	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	I	433	ENSP00000216160:T433I;ENSP00000333049:T433I	ENSP00000216160:T433I	T	+	2	0	TAB1	38154125	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	7.360000	0.79487	2.582000	0.87167	0.650000	0.86243	ACC		PASS	0.642	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		11	54	11	54	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316885	11316885	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:11316885C>T	ENST00000380714.3	+	5	430	c.362C>T	c.(361-363)cCg>cTg	p.P121L	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P105L|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P135L|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	121					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.P135L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AACCTCCCTCCGCCCGCCCAG	0.662																																						uc004cut.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CCG>CTG		amelogenin (X chromosome) isoform 1 precursor							96.0	82.0	87.0					X																	11316885		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316885C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.362C>T	X.37:g.11316885C>T	ENSP00000370090:p.Pro121Leu					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P135L|AMELX_uc004cuu.2_Missense_Mutation_p.P105L	p.P121L	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	430	+			121					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.362C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	2.419	-0.333614	0.05278	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88354	-2.37;-2.37;-2.37	4.85	1.25	0.21368	.	0.575617	0.16687	N	0.203698	T	0.68155	0.2970	N	0.05510	-0.035	0.23162	N	0.998193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.52366	-0.8585	10	0.08837	T	0.75	3.1405	0.3558	0.00356	0.2449:0.3377:0.1582:0.2593	.	105;121;135	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	121;135;105	ENSP00000370090:P121L;ENSP00000370088:P135L;ENSP00000335312:P105L	ENSP00000335312:P105L	P	+	2	0	AMELX	11226806	0.008000	0.16893	0.921000	0.36526	0.982000	0.71751	-0.090000	0.11163	0.347000	0.23924	0.415000	0.27848	CCG		PASS	0.662	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		4	9	4	9	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22208614	22208614	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:22208614A>T	ENST00000379374.4	+	15	2205	c.1640A>T	c.(1639-1641)cAg>cTg	p.Q547L	PHEX_ENST00000537599.1_Missense_Mutation_p.Q547L|PHEX_ENST00000535894.1_Missense_Mutation_p.Q450L|PHEX_ENST00000418858.3_Missense_Mutation_p.Q250L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	547					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q547L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCACCAACCAGATCCGTGAG	0.423																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1639-1641)CAG>CTG		phosphate-regulating neutral endopeptidase							165.0	140.0	148.0					X																	22208614		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22208614A>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1640A>T	X.37:g.22208614A>T	ENSP00000368682:p.Gln547Leu					PHEX_uc011mjr.1_Missense_Mutation_p.Q547L|PHEX_uc011mjs.1_Missense_Mutation_p.Q450L	p.Q547L	NM_000444	NP_000435	P78562	PHEX_HUMAN			15	1843	+			547			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1640A>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	a	21.2	4.111733	0.77210	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.03	5.03	0.67393	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	L	0.31804	0.96	0.54753	D	0.999988	D;D	0.57257	0.974;0.979	P;P	0.54759	0.647;0.76	D	0.89871	0.4023	10	0.62326	D	0.03	.	11.2312	0.48914	1.0:0.0:0.0:0.0	.	547;547	F5GXU4;P78562	.;PHEX_HUMAN	L	547;547;450;250	ENSP00000368682:Q547L;ENSP00000440362:Q547L;ENSP00000439418:Q450L;ENSP00000443531:Q250L	ENSP00000368682:Q547L	Q	+	2	0	PHEX	22118535	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.767000	0.74975	1.849000	0.53698	0.438000	0.28831	CAG		PASS	0.423	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		31	70	31	70	---	---	---	---
MAGEB16	139604	broad.mit.edu	37	X	35820595	35820595	+	Silent	SNP	T	T	C			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:35820595T>C	ENST00000399989.1	+	2	561	c.282T>C	c.(280-282)gaT>gaC	p.D94D	MAGEB16_ENST00000399992.1_Silent_p.D126D|MAGEB16_ENST00000399985.1_Silent_p.D94D|MAGEB16_ENST00000399987.1_Silent_p.D94D|MAGEB16_ENST00000399988.1_Silent_p.D94D	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	94								p.D261D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGGAAGATAGTCCAAGCT	0.488																																						uc010ngt.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(280-282)GAT>GAC		melanoma antigen family B, 16							52.0	49.0	50.0					X																	35820595		1944	4157	6101	SO:0001819	synonymous_variant	139604							g.chrX:35820595T>C		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.282T>C	X.37:g.35820595T>C							p.D94D	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	561	+			94					A8MU30	Silent	SNP	ENST00000399989.1	37	c.282T>C	CCDS43927.1																																																																																				PASS	0.488	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			4	9	4	9	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36156569	36156569	+	Missense_Mutation	SNP	C	C	G	rs138587803		TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:36156569C>G	ENST00000313548.4	+	10	1434	c.1248C>G	c.(1246-1248)gaC>gaG	p.D416E		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	416	CH.					integral component of membrane (GO:0016021)		p.D416E(1)									TTGACTTTGACGTGGAAATAC	0.294																																						uc004ddk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1246-1248)GAC>GAG		hypothetical protein LOC286464							79.0	73.0	75.0					X																	36156569		2201	4293	6494	SO:0001583	missense	286464					integral to membrane		g.chrX:36156569C>G	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1248C>G	X.37:g.36156569C>G	ENSP00000324767:p.Asp416Glu						p.D416E	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			10	1434	+			416						Missense_Mutation	SNP	ENST00000313548.4	37	c.1248C>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	2.650	-0.282071	0.05642	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.16	0.491	0.16867	Calponin homology domain (1);	0.633514	0.12495	N	0.463918	T	0.16599	0.0399	N	0.17082	0.46	0.09310	N	1	B	0.30511	0.282	B	0.27887	0.084	T	0.15896	-1.0421	9	0.38643	T	0.18	-2.3647	0.8533	0.01177	0.1742:0.3514:0.1697:0.3048	.	416	Q8N9S7	CX059_HUMAN	E	416	.	ENSP00000324767:D416E	D	+	3	2	CXorf59	36066490	0.744000	0.28250	0.023000	0.16930	0.017000	0.09413	-0.137000	0.10389	0.049000	0.15920	0.594000	0.82650	GAC		PASS	0.294	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		17	55	17	55	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028587	37028587	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:37028587C>T	ENST00000358047.3	+	1	2156	c.2104C>T	c.(2104-2106)Ctc>Ttc	p.L702F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	702								p.L702F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCGTCTCCACCCAGA	0.642																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2104-2106)CTC>TTC		hypothetical protein LOC442444							50.0	49.0	49.0					X																	37028587		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028587C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2104C>T	X.37:g.37028587C>T	ENSP00000367913:p.Leu702Phe						p.L702F	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2118	+			702					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2104C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	11.86	1.763178	0.31228	.	.	ENSG00000198173	ENST00000358047	T	0.22539	1.95	1.03	1.03	0.20045	.	.	.	.	.	T	0.19248	0.0462	L	0.52573	1.65	0.09310	N	1	B	0.30563	0.285	B	0.32342	0.144	T	0.20505	-1.0273	9	0.44086	T	0.13	.	7.9008	0.29734	0.0:1.0:0.0:0.0	.	702	Q5HY64	FA47C_HUMAN	F	702	ENSP00000367913:L702F	ENSP00000367913:L702F	L	+	1	0	FAM47C	36938508	0.002000	0.14202	0.009000	0.14445	0.009000	0.06853	0.093000	0.15086	0.359000	0.24239	0.359000	0.22050	CTC		PASS	0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	22	12	22	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932785	39932785	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:39932785G>T	ENST00000378444.4	-	4	2042	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	BCOR_ENST00000397354.3_Missense_Mutation_p.P605H|BCOR_ENST00000378455.4_Missense_Mutation_p.P605H|BCOR_ENST00000342274.4_Missense_Mutation_p.P605H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	605					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P605H(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGCTTGGCAGGAGTGGCCGG	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1813-1815)CCT>CAT		BCL-6 interacting corepressor isoform c							63.0	65.0	64.0					X																	39932785		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932785G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1814C>A	X.37:g.39932785G>T	ENSP00000367705:p.Pro605His					BCOR_uc004dep.3_Missense_Mutation_p.P605H|BCOR_uc004deo.3_Missense_Mutation_p.P605H|BCOR_uc004dem.3_Missense_Mutation_p.P605H|BCOR_uc004deq.3_Missense_Mutation_p.P605H	p.P605H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	2106	-			605					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1814C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789437	0.49997	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	5.8	4.89	0.63831	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.30805	N	0.739447	D;D;D;D	0.76494	0.995;0.999;0.991;0.999	P;D;P;D	0.66716	0.849;0.946;0.711;0.946	T	0.14671	-1.0464	9	0.87932	D	0	-11.0793	15.3397	0.74287	0.0:0.136:0.864:0.0	.	605;605;605;605	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	605;605;605;605;605;12	ENSP00000367716:P605H;ENSP00000380512:P605H;ENSP00000367705:P605H;ENSP00000345923:P605H;ENSP00000384485:P605H	ENSP00000345923:P605H	P	-	2	0	BCOR	39817729	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	3.780000	0.55386	2.438000	0.82558	0.600000	0.82982	CCT		PASS	0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		15	32	15	32	---	---	---	---
ITGB1BP2	26548	broad.mit.edu	37	X	70524054	70524054	+	Silent	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:70524054C>A	ENST00000373829.3	+	9	730	c.657C>A	c.(655-657)cgC>cgA	p.R219R	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Silent_p.R201R	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	219	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R219R(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CATCTTGCCGCCATGATTGGC	0.468																																						uc004dzr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(655-657)CGC>CGA		integrin beta 1 binding protein 2							121.0	95.0	104.0					X																	70524054		2203	4300	6503	SO:0001819	synonymous_variant	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524054C>A	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.657C>A	X.37:g.70524054C>A						BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Silent_p.R201R	p.R219R	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			9	686	+	Renal(35;0.156)		219			CS.		Q32N04|Q549J7	Silent	SNP	ENST00000373829.3	37	c.657C>A	CCDS14411.1																																																																																				PASS	0.468	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		3	52	3	52	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105449469	105449469	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:105449469G>T	ENST00000357175.2	+	4	693	c.44G>T	c.(43-45)tGg>tTg	p.W15L	MUM1L1_ENST00000337685.2_Missense_Mutation_p.W15L|MUM1L1_ENST00000372552.1_Missense_Mutation_p.W15L	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	15						extracellular vesicular exosome (GO:0070062)		p.W15L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACCAGTTGTGGCCAGCAAAA	0.378																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(43-45)TGG>TTG		melanoma associated antigen (mutated) 1-like 1							26.0	24.0	25.0					X																	105449469		1879	4108	5987	SO:0001583	missense	139221							g.chrX:105449469G>T	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.44G>T	X.37:g.105449469G>T	ENSP00000349699:p.Trp15Leu					MUM1L1_uc004emg.1_Missense_Mutation_p.W15L	p.W15L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	693	+			15					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.44G>T	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584143	0.65992	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.33438	1.41;1.41;1.41	4.14	4.14	0.48551	.	0.000000	0.44483	D	0.000449	T	0.55386	0.1917	M	0.82323	2.585	0.38605	D	0.950762	D	0.89917	1.0	D	0.79108	0.992	T	0.64041	-0.6500	10	0.87932	D	0	-12.1303	10.7325	0.46104	0.0:0.0:1.0:0.0	.	15	Q5H9M0	MUML1_HUMAN	L	15	ENSP00000349699:W15L;ENSP00000338641:W15L;ENSP00000361632:W15L	ENSP00000338641:W15L	W	+	2	0	MUM1L1	105336125	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.149000	0.64863	2.296000	0.77279	0.600000	0.82982	TGG		PASS	0.378	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		3	7	3	7	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111095583	111095583	+	Silent	SNP	A	A	G			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:111095583A>G	ENST00000262839.2	-	5	2238	c.1320T>C	c.(1318-1320)ttT>ttC	p.F440F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	440					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.F440F(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTTCATTGCAAAATCCATCA	0.423																																						uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(1318-1320)TTT>TTC		transient receptor potential cation channel,							158.0	129.0	139.0					X																	111095583		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111095583A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1320T>C	X.37:g.111095583A>G						TRPC5_uc004epm.1_Silent_p.F440F	p.F440F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			5	2239	-			440			Helical; (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1320T>C	CCDS14561.1																																																																																				PASS	0.423	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		35	58	35	58	---	---	---	---
RPS4Y1	6192	broad.mit.edu	37	Y	2712180	2712180	+	Silent	SNP	C	C	T			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrY:2712180C>T	ENST00000250784.8	+	3	283	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_001008.3	NP_000999.1	P22090	RS4Y1_HUMAN	ribosomal protein S4, Y-linked 1	48	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.L48L(1)		kidney(1)|lung(2)	3						TCGTCTTCCTCAGGAATAGAC	0.448																																					Melanoma(193;1927 2965 17170 18413)	uc004fqi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CTC>CTT		ribosomal protein S4, Y-linked 1 Y isoform																																				SO:0001819	synonymous_variant	6192				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrY:2712180C>T		CCDS14773.1	Yp11.3	2011-04-05	2004-05-21	2004-05-26	ENSG00000129824	ENSG00000129824		"""S ribosomal proteins"""	10425	protein-coding gene	gene with protein product	"""ribosomal protein S4Y"", ""40S ribosomal protein S4, Y"""	470000	"""ribosomal protein S4, Y-linked"""	RPS4Y			Standard	NM_001008		Approved	MGC5070, MGC119100, S4	uc004fqi.3	P22090	OTTHUMG00000036152	ENST00000250784.8:c.144C>T	Y.37:g.2712180C>T							p.L48L	NM_001008	NP_000999	P22090	RS4Y1_HUMAN			3	187	+			48			S4 RNA-binding.		A8K9V4	Silent	SNP	ENST00000250784.8	37	c.144C>T	CCDS14773.1																																																																																				PASS	0.448	RPS4Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088052.2	NM_001008		62	147	62	147	---	---	---	---
KDM5D	8284	broad.mit.edu	37	Y	21901521	21901521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrY:21901521C>A	ENST00000317961.4	-	6	821	c.550G>T	c.(550-552)Gag>Tag	p.E184*	KDM5D_ENST00000541639.1_Nonsense_Mutation_p.E184*|KDM5D_ENST00000382806.2_Nonsense_Mutation_p.E127*	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	184					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E184*(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TCTTTTACCTCATTGTCAAAC	0.398																																						uc004fug.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(550-552)GAG>TAG		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						91.0	104.0	101.0					Y																	21901521		596	1930	2526	SO:0001587	stop_gained	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21901521C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.550G>T	Y.37:g.21901521C>A	ENSP00000322408:p.Glu184*					KDM5D_uc011naz.1_Nonsense_Mutation_p.E184*|KDM5D_uc010nwy.2_Nonsense_Mutation_p.E127*|KDM5D_uc011nba.1_Nonsense_Mutation_p.E184*|KDM5D_uc004fuh.2_Intron	p.E184*	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			6	838	-			184					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Nonsense_Mutation	SNP	ENST00000317961.4	37	c.550G>T	CCDS14794.1																																																																																				PASS	0.398	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		10	15	10	15	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919096	52919096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chr19:52919096delG	ENST00000360465.3	+	7	1417	c.991delG	c.(991-993)ggcfs	p.G331fs	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TAATAAATGTGGCAAGGTCTT	0.373																																						uc002pzh.2																			0				ovary(1)|skin(1)	2						c.(991-993)GGCfs		zinc finger protein 528							54.0	55.0	55.0					19																	52919096		2203	4300	6503	SO:0001589	frameshift_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919096delG	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.991delG	19.37:g.52919096delG	ENSP00000353652:p.Gly331fs					ZNF528_uc002pzi.2_Frame_Shift_Del_p.G98fs	p.G331fs	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1417	+			331			C2H2-type 5.		B3KPN4|Q86T88|Q96JK0	Frame_Shift_Del	DEL	ENST00000360465.3	37	c.991delG	CCDS33091.1																																																																																					0.373	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		93	45	93	45	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130419264	130419264	+	Frame_Shift_Del	DEL	T	T	-			TCGA-18-3417-01A-01D-1441-08	TCGA-18-3417-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	024d8a82-06c5-4b82-9a27-c52bc4fd450a	c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5	g.chrX:130419264delT	ENST00000361420.3	-	5	635	c.556delA	c.(556-558)attfs	p.I186fs	IGSF1_ENST00000370904.1_Frame_Shift_Del_p.I177fs|IGSF1_ENST00000370910.1_Frame_Shift_Del_p.I177fs|IGSF1_ENST00000370901.4_Frame_Shift_Del_p.I186fs|IGSF1_ENST00000370900.1_Frame_Shift_Del_p.I186fs|IGSF1_ENST00000370903.3_Frame_Shift_Del_p.I186fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	186	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGTTGTCAATGGAGAATATG	0.522																																						uc004ewd.2																			0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(556-558)ATTfs		immunoglobulin superfamily, member 1 isoform 1							189.0	138.0	156.0					X																	130419264		2203	4300	6503	SO:0001589	frameshift_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419264delT	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.556delA	X.37:g.130419264delT	ENSP00000355010:p.Ile186fs					IGSF1_uc004ewe.3_Frame_Shift_Del_p.I175fs|IGSF1_uc004ewf.2_Frame_Shift_Del_p.I166fs|IGSF1_uc004ewg.2_Frame_Shift_Del_p.I186fs	p.I186fs	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			5	794	-			186			Ig-like C2-type 2.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Del	DEL	ENST00000361420.3	37	c.556delA	CCDS14629.1																																																																																					0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			66	51	66	51	---	---	---	---
