#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
ACOT7	11332	broad.mit.edu	37	1	6354951	6354951	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:6354951T>C	ENST00000377855.2	-	7	978	c.832A>G	c.(832-834)Att>Gtt	p.I278V	ACOT7_ENST00000377842.3_Missense_Mutation_p.I227V|ACOT7_ENST00000377845.3_Missense_Mutation_p.I248V|ACOT7_ENST00000361521.4_Missense_Mutation_p.I268V|ACOT7_ENST00000545482.1_Missense_Mutation_p.I163V|ACOT7_ENST00000608083.1_Missense_Mutation_p.I236V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	278	Acyl coenzyme A hydrolase 2.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.I227V(1)|p.I268V(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TGAAAATTAATGGCGTCCACG	0.542																																					GBM(74;673 1226 4974 11850 13190)	uc001ams.2																			2	Substitution - Missense(2)		lung(2)		0						c.(832-834)ATT>GTT		acyl-CoA thioesterase 7 isoform hBACHb							102.0	81.0	88.0					1																	6354951		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6354951T>C	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.832A>G	1.37:g.6354951T>C	ENSP00000367086:p.Ile278Val					ACOT7_uc010nzq.1_Missense_Mutation_p.I163V|ACOT7_uc001amt.2_Missense_Mutation_p.I268V|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.I227V|ACOT7_uc001amr.2_Missense_Mutation_p.I248V	p.I278V	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	7	989	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	278			Acyl coenzyme A hydrolase 2.		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.832A>G	CCDS65.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660115	0.47572	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.55	5.55	0.83447	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.33245	0.995	0.80722	D	1	P;P;P;P	0.39696	0.486;0.622;0.683;0.606	B;B;P;B	0.57960	0.303;0.381;0.83;0.144	T	0.05920	-1.0856	10	0.02654	T	1	.	13.658	0.62349	0.0:0.0:0.0:1.0	.	268;278;248;227	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	278;248;227;268;163	ENSP00000367086:I278V;ENSP00000367076:I248V;ENSP00000367073:I227V;ENSP00000354615:I268V;ENSP00000439218:I163V	ENSP00000354615:I268V	I	-	1	0	ACOT7	6277538	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.602000	0.82796	2.126000	0.65437	0.459000	0.35465	ATT		PASS	0.542	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		9	37	9	37	---	---	---	---
ACOT7	11332	broad.mit.edu	37	1	6409851	6409851	+	Silent	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:6409851T>A	ENST00000377855.2	-	2	395	c.249A>T	c.(247-249)gcA>gcT	p.A83A	ACOT7_ENST00000377842.3_Silent_p.A32A|ACOT7_ENST00000377845.3_Silent_p.A53A|ACOT7_ENST00000361521.4_Silent_p.A73A|ACOT7_ENST00000541130.1_Silent_p.A53A|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000608083.1_Silent_p.A41A	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	83	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.A32A(1)|p.A73A(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TGATGGCGCCTGCCTCCTCGA	0.622																																					GBM(74;673 1226 4974 11850 13190)	uc001ams.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)GCA>GCT		acyl-CoA thioesterase 7 isoform hBACHb							65.0	54.0	58.0					1																	6409851		2203	4300	6503	SO:0001819	synonymous_variant	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6409851T>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.249A>T	1.37:g.6409851T>A						ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Silent_p.A73A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.A32A|ACOT7_uc001amr.2_Silent_p.A53A	p.A83A	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	2	406	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	83			Acyl coenzyme A hydrolase 1.		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	ENST00000377855.2	37	c.249A>T	CCDS65.1																																																																																				PASS	0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		10	17	10	17	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23418882	23418882	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:23418882C>G	ENST00000302291.4	-	4	2674	c.1873G>C	c.(1873-1875)Gaa>Caa	p.E625Q	LUZP1_ENST00000374623.3_Missense_Mutation_p.E625Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.E625Q|LUZP1_ENST00000418342.1_Missense_Mutation_p.E625Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	625					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.E625Q(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)		TTAACCCCTTCTTTATGTGAG	0.468																																						uc001bgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1873-1875)GAA>CAA		leucine zipper protein 1							176.0	176.0	176.0					1																	23418882		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418882C>G	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.1873G>C	1.37:g.23418882C>G	ENSP00000303758:p.Glu625Gln					LUZP1_uc010odv.1_Missense_Mutation_p.E625Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E625Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E625Q	p.E625Q	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	2257	-		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)	625					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1873G>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392661	0.42410	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.22743	2.13;2.13;2.13;1.94	5.74	5.74	0.90152	.	0.000000	0.46442	D	0.000281	T	0.39682	0.1087	L	0.57536	1.79	0.27454	N	0.95334	D;D	0.53885	0.963;0.963	P;P	0.55455	0.678;0.776	T	0.16689	-1.0394	10	0.72032	D	0.01	.	18.961	0.92678	0.0:1.0:0.0:0.0	.	625;625	Q86V48-2;Q86V48	.;LUZP1_HUMAN	Q	625	ENSP00000393460:E625Q;ENSP00000363752:E625Q;ENSP00000303758:E625Q;ENSP00000313705:E625Q	ENSP00000303758:E625Q	E	-	1	0	LUZP1	23291469	1.000000	0.71417	0.891000	0.34965	0.300000	0.27592	4.180000	0.58296	2.717000	0.92951	0.650000	0.86243	GAA		PASS	0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		34	115	34	115	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34158623	34158623	+	Missense_Mutation	SNP	G	G	A	rs528971870		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:34158623G>A	ENST00000373380.1	-	4	798	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.S1320L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1280	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1280L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCTGCCCCGACACCTCTCC	0.572																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3838-3840)TCG>TTG		CUB and Sushi multiple domains 2							145.0	147.0	146.0					1																	34158623		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34158623G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.578C>T	1.37:g.34158623G>A	ENSP00000362478:p.Ser193Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.S1320L|CSMD2_uc001bxo.1_Missense_Mutation_p.S193L	p.S1280L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			25	3868	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1280			CUB 8.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3839C>T		.	.	.	.	.	.	.	.	.	.	G	17.70	3.453536	0.63290	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.19938	2.11;2.11	5.52	2.66	0.31614	CUB (5);	0.325943	0.29892	N	0.010937	T	0.30792	0.0776	M	0.88842	2.985	0.22779	N	0.998749	B;B;P	0.45531	0.009;0.013;0.86	B;B;B	0.42851	0.013;0.022;0.4	T	0.29822	-0.9999	10	0.72032	D	0.01	.	7.8575	0.29491	0.3119:0.0:0.6881:0.0	.	193;1280;1320	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1320;193	ENSP00000362479:S1320L;ENSP00000362478:S193L	ENSP00000241312:S1280L	S	-	2	0	CSMD2	33931210	0.994000	0.37717	0.885000	0.34714	0.896000	0.52359	3.503000	0.53340	0.711000	0.32018	-0.136000	0.14681	TCG		PASS	0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		61	67	61	67	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35351752	35351752	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:35351752G>A	ENST00000373347.1	-	6	1789	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	DLGAP3_ENST00000235180.4_Silent_p.I507I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	507					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.I507I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGCCGGCCTGGATGGCCCGGA	0.692																																						uc001byc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1519-1521)ATC>ATT		discs, large (Drosophila) homolog-associated							17.0	22.0	21.0					1																	35351752		2197	4296	6493	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35351752G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1521C>T	1.37:g.35351752G>A							p.I507I	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			4	1521	-		Myeloproliferative disorder(586;0.0393)	507					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1521C>T	CCDS30670.1																																																																																				PASS	0.692	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		5	5	5	5	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36933539	36933539	+	Missense_Mutation	SNP	C	C	A	rs148104401	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:36933539C>A	ENST00000373106.1	-	14	2295	c.1748G>T	c.(1747-1749)cGt>cTt	p.R583L	CSF3R_ENST00000418048.2_Missense_Mutation_p.R583L|CSF3R_ENST00000373103.1_Missense_Mutation_p.R583L|CSF3R_ENST00000440588.2_Missense_Mutation_p.R583L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.R583L|CSF3R_ENST00000331941.5_Missense_Mutation_p.R583L|CSF3R_ENST00000361632.4_Missense_Mutation_p.R583L|CSF3R_ENST00000338937.5_Missense_Mutation_p.R583L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	583	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in dbSNP:rs3917997). {ECO:0000269|Ref.4}.		cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R583L(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GACAAAGCCACGGGAGGAGGC	0.637																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1747-1749)CGT>CTT		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						52.0	63.0	59.0					1																	36933539		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933539C>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1748G>T	1.37:g.36933539C>A	ENSP00000362198:p.Arg583Leu					CSF3R_uc001cat.1_Missense_Mutation_p.R146L|CSF3R_uc009vvc.1_Missense_Mutation_p.R112L|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R583L|CSF3R_uc001cax.1_Missense_Mutation_p.R583L|CSF3R_uc001cay.1_Missense_Mutation_p.R583L	p.R583L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			14	1926	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	583			Fibronectin type-III 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.1748G>T	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.204|5.204	0.223177|0.223177	0.09863|0.09863	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588|ENST00000464465	T;T;T;T;T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39|.	5.32|5.32	-4.75|-4.75	0.03239|0.03239	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	1.944540|.	0.02309|.	N|.	0.071866|.	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P;P;P;P;P;D|.	0.54772|.	0.503;0.843;0.6;0.503;0.913;0.968|.	B;B;B;B;P;P|.	0.54664|.	0.165;0.42;0.145;0.165;0.558;0.758|.	T|T	0.32824|0.32824	-0.9892|-0.9892	10|5	0.23302|.	T|.	0.38|.	0.8351|0.8351	10.022|10.022	0.42048|0.42048	0.0:0.6705:0.1469:0.1826|0.0:0.6705:0.1469:0.1826	.|.	583;583;583;583;583;583|.	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2|.	.;.;.;CSF3R_HUMAN;.;.|.	L|L	583|135	ENSP00000362198:R583L;ENSP00000362196:R583L;ENSP00000362195:R583L;ENSP00000355406:R583L;ENSP00000332180:R583L;ENSP00000401588:R583L;ENSP00000345013:R583L;ENSP00000397568:R583L|.	ENSP00000332180:R583L|.	R|V	-|-	2|1	0|0	CSF3R|CSF3R	36706126|36706126	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.951000|-0.951000	0.03885|0.03885	-0.962000|-0.962000	0.03604|0.03604	-1.223000|-1.223000	0.01593|0.01593	CGT|GTG		PASS	0.637	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		11	13	11	13	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37947224	37947224	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:37947224G>T	ENST00000373087.6	+	4	722	c.606G>T	c.(604-606)ctG>ctT	p.L202L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.L202L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCGGGAACTGGAGAAGAAGA	0.597																																						uc001cbb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(604-606)CTG>CTT		zinc finger CCCH-type containing 12A							190.0	174.0	180.0					1																	37947224		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947224G>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.606G>T	1.37:g.37947224G>T						ZC3H12A_uc001cbc.1_5'UTR	p.L202L	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			4	756	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	202						Silent	SNP	ENST00000373087.6	37	c.606G>T	CCDS417.1																																																																																				PASS	0.597	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		5	80	5	80	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39833823	39833823	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:39833823C>T	ENST00000372915.3	+	49	12877	c.12790C>T	c.(12790-12792)Ctc>Ttc	p.L4264F	MACF1_ENST00000539005.1_Missense_Mutation_p.L2197F|MACF1_ENST00000545844.1_Missense_Mutation_p.L2197F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2197F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2699F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4296F|MACF1_ENST00000564288.1_Missense_Mutation_p.L4259F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2197F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4264					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L2197F(1)|p.L2699F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGACAGGAGCTCAATTTGGA	0.423																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8095-8097)CTC>TTC		microfilament and actin filament cross-linker							83.0	79.0	80.0					1																	39833823		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833823C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12790C>T	1.37:g.39833823C>T	ENSP00000362006:p.Leu4264Phe					MACF1_uc010ois.1_Missense_Mutation_p.L2197F|MACF1_uc001cda.1_Missense_Mutation_p.L2105F|MACF1_uc001cdc.1_Missense_Mutation_p.L1284F|MACF1_uc001cdb.1_Missense_Mutation_p.L1284F	p.L2699F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		14	8226	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4264			LRR 15.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8095C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389980|3.389980	0.61956|0.61956	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.66099	.|-0.15;1.22;-0.15;-0.19;0.04;0.94	5.85|5.85	3.97|3.97	0.46021|0.46021	.|.	.|0.274104	.|0.26007	.|N	.|0.026908	T|T	0.65575|0.65575	0.2704|0.2704	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P;D;P	.|0.55800	.|0.726;0.886;0.973;0.534	.|P;P;P;B	.|0.53450	.|0.501;0.637;0.726;0.332	T|T	0.64428|0.64428	-0.6410|-0.6410	5|10	.|0.51188	.|T	.|0.08	.|.	7.9852|7.9852	0.30207|0.30207	0.0:0.7294:0.1324:0.1382|0.0:0.7294:0.1324:0.1382	.|.	.|4264;2197;2197;2162	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	V|F	1330|2197;4264;2197;2197;2197;2699	.|ENSP00000439537:L2197F;ENSP00000362006:L4264F;ENSP00000354573:L2197F;ENSP00000313438:L2197F;ENSP00000444364:L2197F;ENSP00000289893:L2699F	.|ENSP00000289893:L2699F	A|L	+|+	2|1	0|0	MACF1|MACF1	39606410|39606410	0.970000|0.970000	0.33590|0.33590	0.997000|0.997000	0.53966|0.53966	0.794000|0.794000	0.44872|0.44872	0.790000|0.790000	0.26900|0.26900	0.802000|0.802000	0.34089|0.34089	0.467000|0.467000	0.42956|0.42956	GCT|CTC		PASS	0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	33	13	33	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66067350	66067350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:66067350G>T	ENST00000349533.6	+	9	1455	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.E424*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E424*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E424*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E424*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	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.E424*(3)		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)		TCGCTATGCTGAATTATATGT	0.353																																						uc001dci.2																			3	Substitution - Nonsense(3)		lung(3)	skin(1)	1						c.(1270-1272)GAA>TAA		leptin receptor isoform 1							66.0	64.0	65.0					1																	66067350		2193	4297	6490	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067350G>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.1270G>T	1.37:g.66067350G>T	ENSP00000330393:p.Glu424*					LEPR_uc001dcg.2_Nonsense_Mutation_p.E424*|LEPR_uc001dch.2_Nonsense_Mutation_p.E424*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.E424*|LEPR_uc001dck.2_Nonsense_Mutation_p.E424*	p.E424*	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1472	+			424			Extracellular (Potential).|Ig-like.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.1270G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	39	7.326138	0.98214	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	4.73	4.73	0.59995	.	0.197605	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-18.8256	17.8804	0.88839	0.0:0.0:1.0:0.0	.	.	.	.	X	424	.	ENSP00000340884:E424X	E	+	1	0	LEPR	65839938	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	6.916000	0.75776	2.449000	0.82847	0.467000	0.42956	GAA		PASS	0.353	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		7	11	7	11	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76342658	76342658	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:76342658C>A	ENST00000263187.3	+	10	1447	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	448					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.A448D(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTATTAAGAGCTTACTATGGT	0.284								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1342-1344)GCT>GAT	MMR	mutS homolog 4							73.0	76.0	75.0					1																	76342658		2203	4289	6492	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76342658C>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1343C>A	1.37:g.76342658C>A	ENSP00000263187:p.Ala448Asp						p.A448D	NM_002440	NP_002431	O15457	MSH4_HUMAN			10	1384	+			448					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1343C>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502648	0.85176	.	.	ENSG00000057468	ENST00000263187	D	0.91180	-2.8	5.86	5.86	0.93980	DNA mismatch repair protein MutS, core (3);	0.108239	0.64402	D	0.000007	D	0.89639	0.6773	M	0.77820	2.39	0.80722	D	1	P	0.38677	0.642	B	0.43052	0.406	D	0.87402	0.2370	10	0.13853	T	0.58	-26.4281	20.5632	0.99335	0.0:1.0:0.0:0.0	.	448	O15457	MSH4_HUMAN	D	448	ENSP00000263187:A448D	ENSP00000263187:A448D	A	+	2	0	MSH4	76115246	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.528000	0.73807	2.937000	0.99478	0.650000	0.86243	GCT		PASS	0.284	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		8	19	8	19	---	---	---	---
PRKACB	5567	broad.mit.edu	37	1	84663425	84663425	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:84663425G>T	ENST00000370689.2	+	7	824	c.560G>T	c.(559-561)gGg>gTg	p.G187V	PRKACB_ENST00000394838.2_Missense_Mutation_p.G194V|PRKACB_ENST00000370680.1_Missense_Mutation_p.G193V|PRKACB_ENST00000370688.3_Missense_Mutation_p.G187V|PRKACB_ENST00000394839.2_Missense_Mutation_p.G157V|PRKACB_ENST00000370685.3_Missense_Mutation_p.G234V|PRKACB_ENST00000370682.3_Missense_Mutation_p.G191V	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.G187V(2)|p.G234V(1)|p.G194V(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACAGACTTTGGGTTTGCCAAA	0.318																																						uc001djj.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|ovary(1)	3						c.(559-561)GGG>GTG		cAMP-dependent protein kinase catalytic subunit							92.0	103.0	99.0					1																	84663425		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84663425G>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.560G>T	1.37:g.84663425G>T	ENSP00000359723:p.Gly187Val					PRKACB_uc001djl.2_Missense_Mutation_p.G234V|PRKACB_uc010ort.1_Missense_Mutation_p.G194V|PRKACB_uc001djn.2_Missense_Mutation_p.G191V|PRKACB_uc010oru.1_Missense_Mutation_p.G175V|PRKACB_uc001djp.2_Missense_Mutation_p.G193V|PRKACB_uc001djq.2_Missense_Mutation_p.G157V|PRKACB_uc010orv.1_Missense_Mutation_p.G174V|PRKACB_uc001dji.2_Missense_Mutation_p.G187V|PRKACB_uc001djk.2_Missense_Mutation_p.G234V|PRKACB_uc009wcf.1_Missense_Mutation_p.G193V	p.G187V	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	7	824	+			187			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.560G>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651251	0.88056	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095689	0.64402	D	0.000001	D	0.83018	0.5163	H	0.97023	3.925	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.999;0.999;0.995;0.998;0.998;0.999;1.0;1.0;0.998	D	0.88864	0.3328	10	0.87932	D	0	-3.3068	18.8923	0.92410	0.0:0.0:1.0:0.0	.	187;175;194;193;157;193;191;234;234;187;187	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	V	187;187;234;175;194;191;193;183;190;193;182;174;157;149	ENSP00000359723:G187V;ENSP00000359722:G187V;ENSP00000359719:G234V;ENSP00000359718:G175V;ENSP00000378314:G194V;ENSP00000359716:G191V;ENSP00000392275:G183V;ENSP00000393654:G190V;ENSP00000359714:G193V;ENSP00000397175:G182V;ENSP00000399326:G174V;ENSP00000378315:G157V	ENSP00000359713:G193V	G	+	2	0	PRKACB	84436013	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.756000	0.98918	2.524000	0.85096	0.467000	0.42956	GGG		PASS	0.318	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		5	32	5	32	---	---	---	---
LRRC8D	55144	broad.mit.edu	37	1	90400188	90400188	+	Missense_Mutation	SNP	T	T	C	rs112842021		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:90400188T>C	ENST00000337338.5	+	3	1968	c.1561T>C	c.(1561-1563)Tgc>Cgc	p.C521R	LRRC8D_ENST00000394593.3_Missense_Mutation_p.C521R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	521					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.C521R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTCCACCTCTGCCACTGCCC	0.453																																						uc001dnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1561-1563)TGC>CGC		leucine rich repeat containing 8 family, member							76.0	81.0	79.0					1																	90400188		2202	4300	6502	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400188T>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1561T>C	1.37:g.90400188T>C	ENSP00000338887:p.Cys521Arg					LRRC8D_uc001dnn.2_Missense_Mutation_p.C521R	p.C521R	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1986	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	521			LRR 1.		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1561T>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324802	0.24080	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.22945	1.93;1.93	6.07	6.07	0.98685	.	0.066210	0.64402	D	0.000002	T	0.08133	0.0203	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18241	-1.0343	9	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	521	Q7L1W4	LRC8D_HUMAN	R	521	ENSP00000338887:C521R;ENSP00000378093:C521R	.	C	+	1	0	LRRC8D	90172776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.326000	0.78906	0.533000	0.62120	TGC		PASS	0.453	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		36	53	36	53	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145580518	145580518	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:145580518C>G	ENST00000393045.2	+	7	908	c.818C>G	c.(817-819)tCt>tGt	p.S273C	PIAS3_ENST00000369299.3_3'UTR|PIAS3_ENST00000369298.1_Missense_Mutation_p.S238C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	273	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.S273C(1)|p.S264C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTCCTTGTCTGTGTACCTG	0.512																																						uc001eoc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(817-819)TCT>TGT		protein inhibitor of activated STAT, 3							118.0	108.0	111.0					1																	145580518		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580518C>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.818C>G	1.37:g.145580518C>G	ENSP00000376765:p.Ser273Cys					NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	p.S273C	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			7	909	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		273			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.818C>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435400	0.83885	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.44881	0.91;0.91	5.11	5.11	0.69529	PINIT domain (1);	0.000000	0.64402	D	0.000016	T	0.54663	0.1872	M	0.63843	1.955	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.57335	-0.7829	10	0.87932	D	0	-14.0956	16.0656	0.80867	0.0:1.0:0.0:0.0	.	273	Q9Y6X2	PIAS3_HUMAN	C	273;238	ENSP00000376765:S273C;ENSP00000358304:S238C	ENSP00000358304:S238C	S	+	2	0	PIAS3	144291875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.918000	0.69996	2.665000	0.90641	0.655000	0.94253	TCT		PASS	0.512	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		31	43	31	43	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149858024	149858024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:149858024G>T	ENST00000369155.2	-	1	208	c.167C>A	c.(166-168)tCg>tAg	p.S56*	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S56*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCCTTGGACGAGATGCCGGT	0.592																																						uc001etc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(166-168)TCG>TAG		histone cluster 2, H2be							178.0	168.0	171.0					1																	149858024		2203	4297	6500	SO:0001587	stop_gained	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858024G>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.167C>A	1.37:g.149858024G>T	ENSP00000358151:p.Ser56*					HIST2H2AC_uc001etd.2_5'Flank	p.S56*	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	209	-	Breast(34;0.0124)|all_hematologic(923;0.127)		56					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Nonsense_Mutation	SNP	ENST00000369155.2	37	c.167C>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615329	0.96649	.	.	ENSG00000184678	ENST00000369155	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9081	0.92471	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000358151:S56X	S	-	2	0	HIST2H2BE	148124648	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.749000	0.85096	2.810000	0.96702	0.586000	0.80456	TCG		PASS	0.592	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		6	196	6	196	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151337409	151337409	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:151337409G>C	ENST00000368868.5	-	11	1340	c.1249C>G	c.(1249-1251)Ctc>Gtc	p.L417V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.L355V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.L459V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L353V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	417					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.L417V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCTGATGAGATCAGGGTAA	0.572																																						uc001exx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1249-1251)CTC>GTC		selenium binding protein 1							60.0	52.0	55.0					1																	151337409		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337409G>C	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1249C>G	1.37:g.151337409G>C	ENSP00000357861:p.Leu417Val					SELENBP1_uc010pcy.1_Missense_Mutation_p.L459V|SELENBP1_uc001exy.2_Missense_Mutation_p.L314V|SELENBP1_uc001exz.2_Missense_Mutation_p.L314V|SELENBP1_uc010pcz.1_Missense_Mutation_p.L355V|SELENBP1_uc009wms.2_Missense_Mutation_p.L253V|SELENBP1_uc009wmt.2_Missense_Mutation_p.L314V|SELENBP1_uc001eya.2_Missense_Mutation_p.L353V|SELENBP1_uc009wmu.2_3'UTR	p.L417V	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1296	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		417					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1249C>G	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935120	0.34189	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.3	4.3	0.51218	.	0.181968	0.47455	D	0.000229	T	0.43678	0.1258	M	0.72894	2.215	0.80722	D	1	P;B;P;B	0.37061	0.454;0.314;0.58;0.314	B;B;B;B	0.38156	0.266;0.178;0.228;0.248	T	0.43360	-0.9396	9	0.22706	T	0.39	-27.7853	13.623	0.62149	0.0:0.0:1.0:0.0	.	355;270;353;417	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	V	417;355;353	.	ENSP00000357861:L417V	L	-	1	0	SELENBP1	149604033	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	3.057000	0.49931	2.236000	0.73375	0.561000	0.74099	CTC		PASS	0.572	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	23	4	23	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626131	156626131	+	Missense_Mutation	SNP	G	G	T	rs377636856		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:156626131G>T	ENST00000329117.5	+	9	2336	c.2000G>T	c.(1999-2001)gGg>gTg	p.G667V	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	667	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G667V(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGAGGAAGGGGTCCGCTGC	0.642																																						uc001fpp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1999-2001)GGG>GTG		brevican isoform 1							91.0	82.0	85.0					1																	156626131		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626131G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2000G>T	1.37:g.156626131G>T	ENSP00000331210:p.Gly667Val						p.G667V	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			9	2336	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		667			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2000G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114775	0.20795	.	.	ENSG00000132692	ENST00000329117	D	0.93763	-3.28	5.42	3.45	0.39498	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.174764	0.39210	N	0.001437	D	0.86871	0.6037	M	0.66506	2.035	0.09310	N	0.999996	B	0.31274	0.317	B	0.38842	0.283	T	0.79897	-0.1609	10	0.39692	T	0.17	-28.3443	6.3219	0.21223	0.1635:0.1525:0.684:0.0	.	667	Q96GW7	PGCB_HUMAN	V	667	ENSP00000331210:G667V	ENSP00000331210:G667V	G	+	2	0	BCAN	154892755	0.000000	0.05858	1.000000	0.80357	0.027000	0.11550	0.092000	0.15066	1.293000	0.44690	-0.254000	0.11334	GGG		PASS	0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		31	33	31	33	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157650786	157650786	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:157650786G>A	ENST00000368184.3	-	12	2233	c.1942C>T	c.(1942-1944)Cca>Tca	p.P648S	FCRL3_ENST00000368186.5_Missense_Mutation_p.P648S|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	648						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P648S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGTACATTGGCTCCAGCTCC	0.587																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1942-1944)CCA>TCA		Fc receptor-like 3 precursor							89.0	76.0	80.0					1																	157650786		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157650786G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1942C>T	1.37:g.157650786G>A	ENSP00000357167:p.Pro648Ser					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.P648S|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.P374S|FCRL3_uc001frc.1_Missense_Mutation_p.P648S	p.P648S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			12	2234	-	all_hematologic(112;0.0378)		648			ITIM motif 1.|Cytoplasmic (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1942C>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528516	0.27299	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.50813	0.75;0.73	4.71	2.79	0.32731	.	25.872800	0.00166	N	0.000000	T	0.49695	0.1572	L	0.58428	1.81	0.21802	N	0.999539	D;P;D	0.65815	0.995;0.897;0.985	D;P;P	0.64410	0.925;0.77;0.891	T	0.25779	-1.0122	10	0.87932	D	0	.	7.3743	0.26818	0.2036:0.0:0.7964:0.0	.	648;553;648	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	S	648	ENSP00000357169:P648S;ENSP00000357167:P648S	ENSP00000292392:P648S	P	-	1	0	FCRL3	155917410	0.114000	0.22134	0.728000	0.30774	0.002000	0.02628	0.989000	0.29629	1.194000	0.43101	-0.145000	0.13849	CCA		PASS	0.587	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		4	49	4	49	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157773754	157773754	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:157773754C>A	ENST00000368176.3	-	3	267	c.200G>T	c.(199-201)aGc>aTc	p.S67I	FCRL1_ENST00000491942.1_Missense_Mutation_p.S67I|FCRL1_ENST00000358292.3_Missense_Mutation_p.S67I|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	67	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S67I(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTGGGGGAGCTGCTCCAGCC	0.562																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(199-201)AGC>ATC		Fc receptor-like 1 isoform 1 precursor							86.0	88.0	87.0					1																	157773754		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773754C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.200G>T	1.37:g.157773754C>A	ENSP00000357158:p.Ser67Ile					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.S67I|FCRL1_uc001fri.2_Missense_Mutation_p.S67I|FCRL1_uc001frj.2_RNA	p.S67I	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	313	-	all_hematologic(112;0.0378)		67			Extracellular (Potential).|Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.200G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717786	0.30413	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.14516	2.5;2.5;2.5	3.96	-4.01	0.04045	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.900140	0.00649	N	0.000560	T	0.06142	0.0159	L	0.50333	1.59	0.09310	N	1	B;P;P	0.41313	0.321;0.745;0.624	B;P;P	0.45449	0.187;0.481;0.452	T	0.18335	-1.0340	10	0.36615	T	0.2	.	5.4675	0.16652	0.0:0.1995:0.4425:0.3579	.	67;67;67	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	I	67	ENSP00000351039:S67I;ENSP00000357158:S67I;ENSP00000418130:S67I	ENSP00000351039:S67I	S	-	2	0	FCRL1	156040378	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.956000	0.01522	-0.672000	0.05266	0.655000	0.94253	AGC		PASS	0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		35	34	35	34	---	---	---	---
APCS	325	broad.mit.edu	37	1	159557995	159557995	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:159557995C>A	ENST00000255040.2	+	2	266	c.169C>A	c.(169-171)Cga>Aga	p.R57R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	57	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.R57R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CTTGTGTTTTCGAGCCTATAG	0.428																																						uc001ftv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(169-171)CGA>AGA		serum amyloid P component precursor							108.0	108.0	108.0					1																	159557995		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159557995C>A		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.169C>A	1.37:g.159557995C>A							p.R57R	NM_001639	NP_001630	P02743	SAMP_HUMAN			2	265	+	all_hematologic(112;0.0429)		57			Pentaxin.			Silent	SNP	ENST00000255040.2	37	c.169C>A	CCDS1186.1																																																																																				PASS	0.428	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		4	68	4	68	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159856431	159856431	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:159856431C>T	ENST00000368099.4	-	6	701	c.637G>A	c.(637-639)Gag>Aag	p.E213K	CCDC19_ENST00000426543.2_Missense_Mutation_p.E128K|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.E213K(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTGCTTCTCCAGGATTTGG	0.478																																						uc001fui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GAG>AAG		nasopharyngeal epithelium specific protein 1							234.0	226.0	229.0					1																	159856431		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159856431C>T																												ENST00000368099.4:c.637G>A	1.37:g.159856431C>T	ENSP00000357079:p.Glu213Lys					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E128K|CCDC19_uc001ful.2_Missense_Mutation_p.E128K|CCDC19_uc009wtc.1_Missense_Mutation_p.E213K	p.E213K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		6	655	-	all_hematologic(112;0.0597)		213			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.637G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443628	0.96187	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.19105	2.17;2.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51180	-0.8738	9	.	.	.	-33.8849	16.9105	0.86139	0.0:1.0:0.0:0.0	.	213;213	A8K884;Q9UL16	.;CCD19_HUMAN	K	213;128	ENSP00000357079:E213K;ENSP00000403044:E128K	.	E	-	1	0	CCDC19	158123055	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.588000	0.87417	0.563000	0.77884	GAG		PASS	0.478	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			9	257	9	257	---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495234	161495234	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:161495234G>T	ENST00000309758.4	+	1	1199	c.786G>T	c.(784-786)ctG>ctT	p.L262L	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	262					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.L262L(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCGTGCCCTGCGCAGGCTGC	0.632																																						uc001gap.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(784-786)CTG>CTT		heat shock 70kDa protein 6 (HSP70B')							14.0	16.0	15.0					1																	161495234		2201	4298	6499	SO:0001819	synonymous_variant	3310				response to unfolded protein		ATP binding	g.chr1:161495234G>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.786G>T	1.37:g.161495234G>T						HSPA6_uc001gaq.2_Silent_p.L262L	p.L262L	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1446	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		262					Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.786G>T	CCDS1231.1																																																																																				PASS	0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		7	9	7	9	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169993642	169993642	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:169993642C>G	ENST00000361580.2	-	9	1164	c.937G>C	c.(937-939)Gat>Cat	p.D313H	RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000538366.1_Missense_Mutation_p.D235H|KIFAP3_ENST00000367765.1_Missense_Mutation_p.D273H|KIFAP3_ENST00000540905.1_Missense_Mutation_p.D15H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D269H	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	313					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.D313H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTCCCGATCAAGGGCTTTC	0.358																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(937-939)GAT>CAT		kinesin-associated protein 3							70.0	73.0	72.0					1																	169993642		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169993642C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.937G>C	1.37:g.169993642C>G	ENSP00000354560:p.Asp313His					KIFAP3_uc010plx.1_Missense_Mutation_p.D15H	p.D313H	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			9	1208	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		313					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.937G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272425	0.95429	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.087312	0.85682	D	0.000000	T	0.57388	0.2050	L	0.54323	1.7	0.80722	D	1	D	0.64830	0.994	D	0.64321	0.924	T	0.48536	-0.9027	9	.	.	.	-26.2122	20.1323	0.98003	0.0:1.0:0.0:0.0	.	313	Q92845	KIFA3_HUMAN	H	313;273;269;15;235	ENSP00000354560:D313H;ENSP00000356739:D273H;ENSP00000356741:D269H;ENSP00000442712:D15H;ENSP00000444622:D235H	.	D	-	1	0	KIFAP3	168260266	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.672000	0.68102	2.857000	0.98124	0.650000	0.86243	GAT		PASS	0.358	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		5	25	5	25	---	---	---	---
MYOC	4653	broad.mit.edu	37	1	171605340	171605340	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:171605340C>T	ENST00000037502.6	-	3	1311	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	414	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		E -> K. {ECO:0000269|PubMed:12356829}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.E414K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527																																						uc001ghu.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1240-1242)GAA>AAA		myocilin precursor							220.0	201.0	208.0					1																	171605340		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605340C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1240G>A	1.37:g.171605340C>T	ENSP00000037502:p.Glu414Lys					MYOC_uc010pmk.1_Missense_Mutation_p.E356K	p.E414K	NM_000261	NP_000252	Q99972	MYOC_HUMAN			3	1262	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		414		E -> K.	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.1240G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649911	0.14516	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.89810	-2.57	5.17	3.22	0.36961	Olfactomedin-like (3);	0.264979	0.42420	D	0.000709	T	0.64768	0.2628	L	0.33710	1.025	0.09310	N	1	B;B	0.29627	0.134;0.252	B;B	0.28011	0.038;0.085	T	0.52939	-0.8508	10	0.19147	T	0.46	.	5.3612	0.16089	0.0:0.4938:0.3433:0.163	.	356;414	B4DV44;Q99972	.;MYOC_HUMAN	K	414;367;347	ENSP00000037502:E414K	ENSP00000037502:E414K	E	-	1	0	MYOC	169871963	0.000000	0.05858	0.006000	0.13384	0.209000	0.24338	0.811000	0.27198	1.256000	0.44068	0.555000	0.69702	GAA		PASS	0.527	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		35	87	35	87	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753518	171753518	+	Missense_Mutation	SNP	G	G	T	rs149343407		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:171753518G>T	ENST00000361735.3	+	2	1058	c.792G>T	c.(790-792)agG>agT	p.R264S	METTL13_ENST00000458517.1_Missense_Mutation_p.R263S|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.R178S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	264							methyltransferase activity (GO:0008168)	p.R264S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCAAGGCCAGGCTGGGGAGTG	0.677																																						uc001ghz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(790-792)AGG>AGT		CGI-01 protein isoform 1							23.0	22.0	22.0					1																	171753518		2197	4298	6495	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753518G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.792G>T	1.37:g.171753518G>T	ENSP00000354920:p.Arg264Ser					METTL13_uc001gia.2_Missense_Mutation_p.R178S|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R263S	p.R264S	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			2	1139	+			264					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.792G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	6.178	0.400944	0.11696	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T	0.28069	2.37;1.63;2.37;3.03	5.33	4.21	0.49690	.	0.428883	0.27076	N	0.021060	T	0.02230	0.0069	N	0.00707	-1.245	0.20074	N	0.999938	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44452	-0.9327	10	0.09338	T	0.73	-9.732	7.128	0.25484	0.0945:0.0:0.6236:0.2819	.	263;264	B4E2X3;Q8N6R0	.;MTL13_HUMAN	S	263;178;264;181;178	ENSP00000401955:R263S;ENSP00000355393:R178S;ENSP00000354920:R264S;ENSP00000356710:R181S	ENSP00000341732:R178S	R	+	3	2	METTL13	170020141	0.952000	0.32445	1.000000	0.80357	0.922000	0.55478	0.139000	0.16036	2.465000	0.83290	0.655000	0.94253	AGG		PASS	0.677	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		7	21	7	21	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175052998	175052998	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:175052998C>T	ENST00000239462.4	+	5	1274	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	387	Fibronectin type-III 2. {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.P387P(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)		GATATGGCCCCATGACAGGAC	0.537																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1159-1161)CCC>CCT		tenascin N precursor							135.0	111.0	119.0					1																	175052998		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175052998C>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.1161C>T	1.37:g.175052998C>T						TNN_uc010pmx.1_Silent_p.P387P	p.P387P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	5	1274	+		Breast(1374;0.000962)	387			Fibronectin type-III 2.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1161C>T	CCDS30943.1																																																																																				PASS	0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		24	39	24	39	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372563	175372563	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:175372563C>T	ENST00000367674.2	-	4	1397	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	TNR_ENST00000263525.2_Missense_Mutation_p.C230Y			Q92752	TENR_HUMAN	tenascin R	230	Cys-rich.|EGF-like 2.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.C230Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGTTCGGAACAGTCATCCCC	0.632																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(688-690)TGT>TAT		tenascin R precursor							104.0	98.0	100.0					1																	175372563		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372563C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.689G>A	1.37:g.175372563C>T	ENSP00000356646:p.Cys230Tyr					TNR_uc009wwu.1_Missense_Mutation_p.C230Y|TNR_uc010pmz.1_Missense_Mutation_p.C230Y	p.C230Y	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	770	-	Renal(580;0.146)		230			Cys-rich.|EGF-like 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.689G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952986	0.92660	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.99724	-6.54;-6.54	6.17	6.17	0.99709	EGF, extracellular (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96373	0.9275	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	230;230	B4DIX8;Q92752	.;TENR_HUMAN	Y	230	ENSP00000356646:C230Y;ENSP00000263525:C230Y	ENSP00000263525:C230Y	C	-	2	0	TNR	173639186	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.695000	0.84257	2.941000	0.99782	0.655000	0.94253	TGT		PASS	0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		38	78	38	78	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078459	179078459	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:179078459C>A	ENST00000502732.1	-	12	2146	c.1943G>T	c.(1942-1944)aGg>aTg	p.R648M	ABL2_ENST00000367623.4_Missense_Mutation_p.R627M|ABL2_ENST00000511413.1_Missense_Mutation_p.R648M|ABL2_ENST00000408940.3_Missense_Mutation_p.R612M|ABL2_ENST00000507173.1_Missense_Mutation_p.R627M|ABL2_ENST00000344730.3_Missense_Mutation_p.R633M|ABL2_ENST00000512653.1_Missense_Mutation_p.R633M|ABL2_ENST00000504405.1_Missense_Mutation_p.R612M	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	648					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.R633M(1)|p.R612M(1)|p.R648M(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCCCCCCTTCCTATCCCTGGT	0.537			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Missense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1942-1944)AGG>ATG		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						131.0	140.0	137.0					1																	179078459		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078459C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1943G>T	1.37:g.179078459C>A	ENSP00000427562:p.Arg648Met					ABL2_uc010pnf.1_Missense_Mutation_p.R648M|ABL2_uc010png.1_Missense_Mutation_p.R627M|ABL2_uc010pnh.1_Missense_Mutation_p.R627M|ABL2_uc001gmg.3_Missense_Mutation_p.R633M|ABL2_uc001gmi.3_Missense_Mutation_p.R633M|ABL2_uc001gmh.3_Missense_Mutation_p.R612M|ABL2_uc010pne.1_Missense_Mutation_p.R612M	p.R648M	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2230	-			648					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1943G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551517	0.65311	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000022	T	0.42743	0.1216	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;B;D	0.89917	1.0;1.0;0.994;0.997;0.994;1.0;0.409;0.997	D;D;D;D;D;D;B;D	0.85130	0.997;0.997;0.964;0.946;0.921;0.997;0.254;0.964	T	0.20538	-1.0272	10	0.87932	D	0	.	18.5539	0.91075	0.0:1.0:0.0:0.0	.	627;627;648;612;648;633;612;633	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	M	648;612;633;633;612;627;627;648	ENSP00000427562:R648M;ENSP00000386152:R612M;ENSP00000339209:R633M;ENSP00000423578:R633M;ENSP00000426831:R612M;ENSP00000356595:R627M;ENSP00000423413:R627M;ENSP00000424697:R648M	ENSP00000339209:R633M	R	-	2	0	ABL2	177345082	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.219000	0.78000	2.630000	0.89119	0.591000	0.81541	AGG		PASS	0.537	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	165	9	165	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181740495	181740495	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:181740495T>C	ENST00000367573.2	+	36	4948	c.4948T>C	c.(4948-4950)Ttt>Ctt	p.F1650L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1582L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1650L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F1257L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1631L|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1631L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1601L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1650					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1650L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGAGTTTCTTTGGGTCCCT	0.473																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4948-4950)TTT>CTT		calcium channel, voltage-dependent, R type,							120.0	110.0	113.0					1																	181740495		1927	4123	6050	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181740495T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4948T>C	1.37:g.181740495T>C	ENSP00000356545:p.Phe1650Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.F1538L|CACNA1E_uc001gox.1_Missense_Mutation_p.F876L|CACNA1E_uc009wxt.2_Missense_Mutation_p.F876L	p.F1650L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			36	5113	+			1650			Extracellular (Potential).|IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4948T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275533	0.40294	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.61	5.61	0.85477	Ion transport (1);	0.137650	0.64402	D	0.000002	D	0.92593	0.7647	L	0.31926	0.97	0.49798	D	0.999824	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.14578	0.011;0.006;0.004	D	0.87457	0.2405	10	0.10902	T	0.67	.	9.025	0.36224	0.0:0.1136:0.0:0.8864	.	1631;1650;1650	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1650;1631;1601;1582;1257;1631;1650	ENSP00000356542:F1650L;ENSP00000434814:F1631L;ENSP00000350183:F1601L;ENSP00000351101:F1582L;ENSP00000356539:F1257L;ENSP00000353222:F1631L;ENSP00000356545:F1650L	ENSP00000350183:F1601L	F	+	1	0	CACNA1E	180007118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.961000	0.56759	2.254000	0.74563	0.533000	0.62120	TTT		PASS	0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	12	3	12	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200946364	200946364	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:200946364G>A	ENST00000422435.2	-	31	4617	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A1434V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1421V|KIF21B_ENST00000332129.2_Missense_Mutation_p.A1421V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1434					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1421V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGCGGACGGCATTGCCCGA	0.632																																						uc001gvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4300-4302)GCC>GTC		kinesin family member 21B							123.0	114.0	117.0					1																	200946364		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200946364G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4301C>T	1.37:g.200946364G>A	ENSP00000411831:p.Ala1434Val					KIF21B_uc001gvr.1_Missense_Mutation_p.A1421V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1434V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1421V	p.A1434V	NM_017596	NP_060066	O75037	KI21B_HUMAN			31	4618	-			1434			WD 3.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4301C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027513	0.35797	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.198864	0.43579	D	0.000543	T	0.08044	0.0201	L	0.44542	1.39	0.29008	N	0.887052	B;B;B;B	0.31459	0.193;0.193;0.324;0.161	B;B;B;B	0.27715	0.082;0.082;0.082;0.049	T	0.07271	-1.0781	10	0.37606	T	0.19	.	18.0342	0.89294	0.0:0.0:1.0:0.0	.	1421;1434;1434;1421	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1421;1421;1434;1434;1434	ENSP00000328494:A1421V;ENSP00000353724:A1421V;ENSP00000433808:A1434V;ENSP00000411831:A1434V	ENSP00000328494:A1421V	A	-	2	0	KIF21B	199212987	0.998000	0.40836	0.965000	0.40720	0.006000	0.05464	5.027000	0.64109	2.249000	0.74217	0.561000	0.74099	GCC		PASS	0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		29	79	29	79	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202400696	202400696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:202400696G>T	ENST00000608999.1	+	8	1243	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	PPP1R12B_ENST00000356764.2_Nonsense_Mutation_p.E364*|PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.E364*|PPP1R12B_ENST00000480184.1_Nonsense_Mutation_p.E364*	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	364	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.E364*(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCTCAGAGGAGGAGGAAGG	0.418																																						uc001gya.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1090-1092)GAG>TAG		protein phosphatase 1, regulatory (inhibitor)							132.0	139.0	136.0					1																	202400696		2203	4300	6503	SO:0001587	stop_gained	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202400696G>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1090G>T	1.37:g.202400696G>T	ENSP00000476755:p.Glu364*					PPP1R12B_uc001gxy.2_Nonsense_Mutation_p.E364*|PPP1R12B_uc009xad.1_Nonsense_Mutation_p.E170*|PPP1R12B_uc009xae.1_Nonsense_Mutation_p.E364*|PPP1R12B_uc001gxz.1_Nonsense_Mutation_p.E364*	p.E364*	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		8	1234	+			364			Glu-rich.		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Nonsense_Mutation	SNP	ENST00000608999.1	37	c.1090G>T	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.768748|6.768748	0.97825|0.97825	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	.|T	.|0.75117	.|0.3806	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73563	.|-0.3943	.|4	0.29301|.	T|.	0.29|.	.|.	19.1777|19.1777	0.93609|0.93609	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	364|159	.|.	ENSP00000337897:E364X|.	E|G	+|+	1|2	0|0	PPP1R12B|PPP1R12B	200667319|200667319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.547000|2.547000	0.85894|0.85894	0.650000|0.650000	0.86243|0.86243	GAG|GGA		PASS	0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		69	88	69	88	---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	218036154	218036154	+	Silent	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:218036154A>G	ENST00000366933.4	+	10	1099	c.1044A>G	c.(1042-1044)tcA>tcG	p.S348S	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	348						cytoplasm (GO:0005737)		p.S348S(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCTCTTCTCAAAGTATGGAA	0.284																																						uc001hlh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1042-1044)TCA>TCG		spermatogenesis associated 17							113.0	128.0	123.0					1																	218036154		2203	4294	6497	SO:0001819	synonymous_variant	128153					cytoplasm	calmodulin binding	g.chr1:218036154A>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.1044A>G	1.37:g.218036154A>G						SPATA17_uc001hli.2_Silent_p.S348S	p.S348S	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	10	1070	+			348					A5D6N2	Silent	SNP	ENST00000366933.4	37	c.1044A>G	CCDS1519.1																																																																																				PASS	0.284	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		43	52	43	52	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228456387	228456387	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:228456387G>T	ENST00000422127.1	+	17	5062	c.5018G>T	c.(5017-5019)cGc>cTc	p.R1673L	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1857L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1673L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R329L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1673	Ig-like 17.			RV -> HM (in Ref. 1; CAC85750). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1673L(2)|p.R1765L(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGAAAGTGCGCGTGGAGGCC	0.687																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(5017-5019)CGC>CTC		obscurin, cytoskeletal calmodulin and							54.0	59.0	57.0					1																	228456387		2085	4196	6281	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456387G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5018G>T	1.37:g.228456387G>T	ENSP00000409493:p.Arg1673Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.R1673L|OBSCN_uc001hso.2_Missense_Mutation_p.R119L	p.R1673L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			17	5062	+		Prostate(94;0.0405)	1673	RV -> HM (in Ref. 1; CAC85750).		Ig-like 17.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5018G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	7.632	0.679021	0.14841	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67865	-0.29;-0.29;-0.29	5.37	1.63	0.23807	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.070790	0.07191	N	0.855676	T	0.73361	0.3577	L	0.48260	1.515	0.21802	N	0.99953	P;D;B	0.56746	0.616;0.977;0.371	P;P;B	0.62089	0.617;0.898;0.197	T	0.60821	-0.7187	10	0.29301	T	0.29	.	10.9964	0.47578	0.3414:0.0:0.6586:0.0	.	1673;119;1673	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	L	1673;1673;329	ENSP00000284548:R1673L;ENSP00000409493:R1673L;ENSP00000352613:R329L	ENSP00000284548:R1673L	R	+	2	0	OBSCN	226523010	0.000000	0.05858	0.322000	0.25334	0.150000	0.21749	-1.822000	0.01711	0.491000	0.27793	0.491000	0.48974	CGC		PASS	0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		41	44	41	44	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229596457	229596457	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:229596457T>A	ENST00000261396.3	-	20	2836	c.2745A>T	c.(2743-2745)ttA>ttT	p.L915F	NUP133_ENST00000537506.1_Missense_Mutation_p.L899F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	915					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L915F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGGGCTGAGATAATAATTTGC	0.348																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2743-2745)TTA>TTT		nucleoporin 133kDa							85.0	86.0	86.0					1																	229596457		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229596457T>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2745A>T	1.37:g.229596457T>A	ENSP00000261396:p.Leu915Phe						p.L915F	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			20	2837	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	915					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2745A>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615521	0.46631	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.46451	0.97;0.87;0.98	5.64	-11.3	0.00108	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.070985	0.50627	D	0.000114	T	0.45357	0.1338	M	0.62723	1.935	0.39643	D	0.970345	D	0.89917	1.0	D	0.97110	1.0	T	0.76806	-0.2823	10	0.30854	T	0.27	-1.8047	7.6679	0.28443	0.0871:0.5167:0.1781:0.2181	.	915	Q8WUM0	NU133_HUMAN	F	844;915;844;899	ENSP00000261396:L915F;ENSP00000355640:L844F;ENSP00000443496:L899F	ENSP00000261396:L915F	L	-	3	2	NUP133	227663080	0.887000	0.30362	0.000000	0.03702	0.294000	0.27393	-0.069000	0.11542	-3.124000	0.00238	-1.247000	0.01520	TTA		PASS	0.348	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		22	51	22	51	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229730434	229730434	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:229730434C>T	ENST00000366676.1	-	4	1379	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	TAF5L_ENST00000258281.2_Silent_p.S460S			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	460					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S460S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAGCCTCACCGAGTTCCCCT	0.582																																						uc001htq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1378-1380)TCG>TCA		PCAF associated factor 65 beta isoform a							79.0	83.0	82.0					1																	229730434		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730434C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1380G>A	1.37:g.229730434C>T							p.S460S	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1546	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	460			WD 4.		Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1380G>A	CCDS1581.1																																																																																				PASS	0.582	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		21	113	21	113	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235840490	235840490	+	Splice_Site	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:235840490T>A	ENST00000389794.3	-	50	11115		c.e50-2		LYST_ENST00000389793.2_Splice_Site|LYST_ENST00000473037.1_Splice_Site			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.?(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAGCATAACCTGAAAGAAAAA	0.363																																						uc001hxj.2																			1	Unknown(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.e50-1		lysosomal trafficking regulator							82.0	80.0	81.0					1																	235840490		2203	4300	6503	SO:0001630	splice_region_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235840490T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10941-2A>T	1.37:g.235840490T>A						LYST_uc001hxi.2_Splice_Site_p.R871_splice	p.R3647_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		50	11116	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)						O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Splice_Site	SNP	ENST00000389794.3	37	c.10941_splice	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745993	0.89663	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8654	0.79060	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYST	233907113	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	8.015000	0.88690	2.151000	0.67156	0.528000	0.53228	.		PASS	0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		Intron	21	23	21	23	---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236343287	236343287	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:236343287G>A	ENST00000366592.3	+	4	887	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	GPR137B_ENST00000366591.4_Missense_Mutation_p.V175I	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	266						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V266I(1)|p.V175I(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAACAAGAGCGTCCATTCCTT	0.522																																						uc001hxq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(796-798)GTC>ATC		G protein-coupled receptor 137B							206.0	172.0	183.0					1																	236343287		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236343287G>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.796G>A	1.37:g.236343287G>A	ENSP00000355551:p.Val266Ile					GPR137B_uc001hxr.1_Missense_Mutation_p.V48I|GPR137B_uc009xge.2_RNA	p.V266I	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	887	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	266			Extracellular (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.796G>A	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280440	0.23392	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.45668	0.89;0.89;0.92	4.88	4.88	0.63580	.	0.067883	0.64402	D	0.000013	T	0.24699	0.0599	N	0.08118	0	0.27239	N	0.959203	B;B	0.21147	0.0;0.052	B;B	0.15052	0.001;0.012	T	0.06006	-1.0851	10	0.22109	T	0.4	-24.8094	16.752	0.85488	0.0:0.0:1.0:0.0	.	129;266	Q5TAF1;O60478	.;G137B_HUMAN	I	266;175;265;48	ENSP00000355551:V266I;ENSP00000355550:V175I;ENSP00000401841:V48I	ENSP00000355550:V175I	V	+	1	0	GPR137B	234409910	1.000000	0.71417	0.183000	0.23137	0.825000	0.46686	4.553000	0.60753	2.697000	0.92050	0.563000	0.77884	GTC		PASS	0.522	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		20	71	20	71	---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245020153	245020153	+	Silent	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:245020153T>A	ENST00000283179.9	-	9	1783	c.1620A>T	c.(1618-1620)gcA>gcT	p.A540A	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Silent_p.A521A			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	540					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A540A(1)|p.A521A(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCTTAAAACCTGCCACCTATA	0.363																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1618-1620)GCA>GCT		heterogeneous nuclear ribonucleoprotein U							77.0	86.0	83.0					1																	245020153		2203	4300	6503	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245020153T>A	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1620A>T	1.37:g.245020153T>A						HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.A264A|HNRNPU_uc001iba.1_Silent_p.A521A|HNRNPU_uc001ibb.1_Silent_p.A228A	p.A540A	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		9	1838	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		540					O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.1620A>T	CCDS41479.1																																																																																				PASS	0.363	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		34	70	34	70	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247050612	247050612	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:247050612T>C	ENST00000391829.2	-	20	2496	c.2373A>G	c.(2371-2373)acA>acG	p.T791T	AHCTF1_ENST00000366508.1_Silent_p.T826T|AHCTF1_ENST00000326225.3_Silent_p.T800T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	791	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T791T(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGGAGTGTCTGTTTTGTTGG	0.353																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(2371-2373)ACA>ACG		transcription factor ELYS							135.0	146.0	142.0					1																	247050612		2203	4298	6501	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247050612T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2373A>G	1.37:g.247050612T>C						AHCTF1_uc001ibv.1_Silent_p.T800T|AHCTF1_uc009xgs.1_5'UTR	p.T791T	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		19	2380	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	791			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.2373A>G																																																																																					PASS	0.353	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		44	40	44	40	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247654714	247654714	+	RNA	SNP	C	C	T	rs201479742	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:247654714C>T	ENST00000522351.1	+	0	345							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H95H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACCTACCACGGCTGTGTGG	0.557													C|||	13	0.00259585	0.0	0.0	5008	,	,		20189	0.0		0.0	False		,,,				2504	0.0133					uc001icz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(283-285)CAC>CAT		olfactory receptor, family 2, subfamily W,							87.0	87.0	87.0					1																	247654714		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654714C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654714C>T							p.H95H	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	285	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	95					B9EH85	Silent	SNP	ENST00000522351.1	37	c.285C>T																																																																																					PASS	0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		42	36	42	36	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752503	247752503	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:247752503A>T	ENST00000320065.1	+	1	842	c.842A>T	c.(841-843)tAc>tTc	p.Y281F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y281F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCTCTTCTACACTGTGGTA	0.458																																						uc010pyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)TAC>TTC		olfactory receptor, family 2, subfamily G,							138.0	136.0	137.0					1																	247752503		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752503A>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.842A>T	1.37:g.247752503A>T	ENSP00000326349:p.Tyr281Phe						p.Y281F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	842	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		281			Helical; Name=7; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.842A>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400348	0.62177	.	.	ENSG00000177489	ENST00000320065	T	0.00305	8.18	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004116	T	0.00724	0.0024	M	0.86502	2.82	0.25405	N	0.988404	D	0.89917	1.0	D	0.80764	0.994	T	0.25710	-1.0124	10	0.87932	D	0	.	11.4683	0.50252	1.0:0.0:0.0:0.0	.	281	Q8NGZ5	OR2G2_HUMAN	F	281	ENSP00000326349:Y281F	ENSP00000326349:Y281F	Y	+	2	0	OR2G2	245819126	0.065000	0.20965	1.000000	0.80357	0.925000	0.55904	0.825000	0.27393	1.789000	0.52484	0.481000	0.45027	TAC		PASS	0.458	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			72	100	72	100	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112725	248112726	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:248112725_248112726TG>AT	ENST00000357191.3	+	1	566_567	c.566_567TG>AT	c.(565-567)aTG>aAT	p.M189N	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M189I(1)|p.M189K(1)|p.M189N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTGGCCTGCATGGACACCTGGG	0.47																																						uc001idt.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(565-567)ATG>AAG|c.(565-567)ATG>ATT		olfactory receptor, family 2, subfamily L,																																				SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112725T>A|g.chr1:248112726G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	Exception_encountered	1.37:g.248112725_248112726delinsAT	ENSP00000349719:p.Met189Asn					OR2L13_uc001ids.2_Intron	p.M189K|p.M189I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	566|567	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		189			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.566T>A|c.567G>T	CCDS31101.1																																																																																				PASS	0.470	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			16	33|32	16	32	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25467478	25467478	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:25467478T>C	ENST00000264709.3	-	14	1935	c.1598A>G	c.(1597-1599)tAc>tGc	p.Y533C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.Y310C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Y533C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Y344C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	533	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.Y533C(2)|p.Y344C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGGACTGGTAGCCGTCGTC	0.602			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1597-1599)TAC>TGC		DNA cytosine methyltransferase 3 alpha isoform							122.0	105.0	111.0					2																	25467478		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467478T>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1598A>G	2.37:g.25467478T>C	ENSP00000264709:p.Tyr533Cys					DNMT3A_uc002rgd.2_Missense_Mutation_p.Y533C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Y344C	p.Y533C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			14	1855	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		533			Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1598A>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064249	0.76187	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.65	5.65	0.86999	Zinc finger, FYVE/PHD-type (1);	0.060099	0.64402	D	0.000002	D	0.97445	0.9164	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.79784	0.93;0.993	D	0.98076	1.0401	10	0.87932	D	0	-6.4073	13.8429	0.63451	0.0:0.0:0.0:1.0	.	533;344	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	344;533;533;310	ENSP00000370122:Y344C;ENSP00000324375:Y533C;ENSP00000264709:Y533C;ENSP00000384237:Y310C	ENSP00000264709:Y533C	Y	-	2	0	DNMT3A	25320982	1.000000	0.71417	0.914000	0.36105	0.594000	0.36715	6.289000	0.72696	2.146000	0.66826	0.533000	0.62120	TAC		PASS	0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		15	3	15	3	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33525541	33525541	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:33525541A>G	ENST00000404816.2	+	21	3612	c.3259A>G	c.(3259-3261)Aat>Gat	p.N1087D	LTBP1_ENST00000272273.5_Missense_Mutation_p.N27D|LTBP1_ENST00000354476.3_Missense_Mutation_p.N1088D|LTBP1_ENST00000402934.1_Missense_Mutation_p.N708D|LTBP1_ENST00000390003.4_Missense_Mutation_p.N762D|LTBP1_ENST00000404525.1_Missense_Mutation_p.N708D|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.N761D|LTBP1_ENST00000418533.2_Missense_Mutation_p.N761D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1087	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.N1088D(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGCAAGGGAATCTATGTGT	0.488																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3262-3264)AAT>GAT		latent transforming growth factor beta binding							111.0	112.0	112.0					2																	33525541		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33525541A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3259A>G	2.37:g.33525541A>G	ENSP00000386043:p.Asn1087Asp					LTBP1_uc002rot.2_Missense_Mutation_p.N762D|LTBP1_uc002rou.2_Missense_Mutation_p.N761D|LTBP1_uc002rov.2_Missense_Mutation_p.N708D|LTBP1_uc010ymz.1_Missense_Mutation_p.N761D|LTBP1_uc010yna.1_Missense_Mutation_p.N708D|LTBP1_uc010ynb.1_Missense_Mutation_p.N27D	p.N1088D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			21	3262	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1087			EGF-like 9; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3262A>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113232	0.37339	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.91945	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.94	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88973	0.6583	L	0.33485	1.01	0.43896	D	0.996529	B;B;B;B;B;B;B	0.30686	0.034;0.29;0.236;0.001;0.099;0.198;0.246	B;B;B;B;B;B;B	0.39876	0.044;0.312;0.229;0.005;0.147;0.147;0.185	D	0.85404	0.1133	9	0.16420	T	0.52	.	14.412	0.67119	1.0:0.0:0.0:0.0	.	27;1087;761;708;761;762;1088	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	D	1087;1088;762;761;708;708;761;27	ENSP00000386043:N1087D;ENSP00000346467:N1088D;ENSP00000374653:N762D;ENSP00000393057:N761D;ENSP00000384373:N708D;ENSP00000385359:N708D;ENSP00000384091:N761D;ENSP00000272273:N27D	ENSP00000272273:N27D	N	+	1	0	LTBP1	33379045	0.995000	0.38212	0.948000	0.38648	0.528000	0.34623	3.490000	0.53245	2.049000	0.60858	0.454000	0.30748	AAT		PASS	0.488	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		39	23	39	23	---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44016793	44016793	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:44016793T>C	ENST00000260605.8	+	5	353	c.253T>C	c.(253-255)Tgg>Cgg	p.W85R	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.W85R|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_Missense_Mutation_p.W85R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.W85R|DYNC2LI1_ENST00000443170.3_5'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.W85R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGCTCACTTTTGGGAACTCGG	0.378																																						uc002rtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)TGG>CGG		dynein 2 light intermediate chain isoform 1							112.0	111.0	111.0					2																	44016793		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44016793T>C		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.253T>C	2.37:g.44016793T>C	ENSP00000260605:p.Trp85Arg					DYNC2LI1_uc002rth.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rti.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W85R|DYNC2LI1_uc010ynz.1_5'UTR	p.W85R	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			5	349	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	85					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.253T>C	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374775	0.82573	.	.	ENSG00000138036	ENST00000260605;ENST00000406852;ENST00000398823	T;T;T	0.35236	2.04;1.32;1.32	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.998;1.0;1.0	T	0.71265	-0.4644	10	0.87932	D	0	-6.4178	15.7623	0.78096	0.0:0.0:0.0:1.0	.	85;85;85;85;85	Q8TCX1-2;Q8TCX1;Q8TCX1-3;Q8TCX1-5;Q8TCX1-4	.;DC2L1_HUMAN;.;.;.	R	85	ENSP00000260605:W85R;ENSP00000385738:W85R;ENSP00000381804:W85R	ENSP00000260605:W85R	W	+	1	0	DYNC2LI1	43870297	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.779000	0.75057	2.311000	0.77944	0.533000	0.62120	TGG		PASS	0.378	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		34	13	34	13	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808748	48808748	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:48808748C>T	ENST00000406226.1	+	3	1171	c.976C>T	c.(976-978)Cca>Tca	p.P326S	STON1_ENST00000404752.1_Missense_Mutation_p.P326S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P326S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P326S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P326S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P326S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P326S|STON1_ENST00000309835.3_Missense_Mutation_p.P326S	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	326	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.P326S(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCTTGATCCATATTGTAG	0.378																																						uc010yol.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(976-978)CCA>TCA		stonin 1							96.0	102.0	100.0					2																	48808748		2202	4299	6501	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808748C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.976C>T	2.37:g.48808748C>T	ENSP00000384615:p.Pro326Ser					STON1_uc002rwo.3_Missense_Mutation_p.P326S|STON1_uc010fbm.2_Missense_Mutation_p.P326S|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P326S|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P326S	p.P326S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1023	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	326					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.976C>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016059	0.19355	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.10573	2.89;2.89;2.89;2.86;2.86;2.86;2.86;3.04	5.45	2.65	0.31530	Stonin homology (1);	0.339173	0.35970	N	0.002866	T	0.08447	0.0210	L	0.43152	1.355	0.09310	N	0.999998	B;B;B	0.23891	0.093;0.036;0.045	B;B;B	0.28011	0.085;0.007;0.014	T	0.41052	-0.9530	10	0.07030	T	0.85	.	8.8015	0.34912	0.0:0.7406:0.1242:0.1353	.	326;326;326	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	S	326	ENSP00000385273:P326S;ENSP00000384615:P326S;ENSP00000310969:P326S;ENSP00000385499:P326S;ENSP00000385701:P326S;ENSP00000378236:P326S;ENSP00000311493:P326S;ENSP00000378234:P326S	ENSP00000310969:P326S	P	+	1	0	STON1-GTF2A1L;STON1	48662252	0.196000	0.23350	0.008000	0.14137	0.994000	0.84299	1.120000	0.31271	0.406000	0.25560	0.591000	0.81541	CCA		PASS	0.378	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		7	265	7	265	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49210251	49210251	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:49210251G>T	ENST00000406846.2	-	7	698	c.579C>A	c.(577-579)acC>acA	p.T193T	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.T167T|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.T193T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	193					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.T193T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CATCTAGTTGGGTTCCATTGA	0.368									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(577-579)ACC>ACA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						106.0	103.0	104.0					2																	49210251		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49210251G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.579C>A	2.37:g.49210251G>T						FSHR_uc002rwx.2_Silent_p.T193T|FSHR_uc010fbn.2_Silent_p.T167T|FSHR_uc010fbo.1_RNA	p.T193T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	653	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	193			LRR 7.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.579C>A	CCDS1843.1																																																																																				PASS	0.368	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			11	72	11	72	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55576722	55576722	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:55576722C>T	ENST00000436346.1	-	9	1655	c.814G>A	c.(814-816)Gag>Aag	p.E272K	CCDC88A_ENST00000413716.2_Missense_Mutation_p.E272K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E272K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E272K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	272					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E272K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AACAACTGCTCAGTCTTTTCC	0.328																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(814-816)GAG>AAG		coiled-coil domain containing 88A isoform 1							154.0	145.0	148.0					2																	55576722		2203	4298	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55576722C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.814G>A	2.37:g.55576722C>T	ENSP00000410608:p.Glu272Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E174K	p.E272K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			9	1656	-			272			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.814G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.544782	0.96488	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.8	5.8	0.92144	.	0.000000	0.45361	U	0.000366	T	0.47911	0.1471	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.994;0.998;0.999	D;D;D	0.68483	0.952;0.937;0.958	T	0.47548	-0.9109	10	0.62326	D	0.03	-19.6648	20.0706	0.97721	0.0:1.0:0.0:0.0	.	272;272;272	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	272	ENSP00000338728:E272K;ENSP00000263630:E272K;ENSP00000410608:E272K;ENSP00000404431:E272K	ENSP00000263630:E272K	E	-	1	0	CCDC88A	55430226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.205000	0.77881	2.744000	0.94065	0.655000	0.94253	GAG		PASS	0.328	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		11	23	11	23	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56603032	56603032	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:56603032C>G	ENST00000407595.2	+	5	2036	c.1534C>G	c.(1534-1536)Cct>Gct	p.P512A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	512								p.P512A(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCCACACCTTCCCAGCA	0.473																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1534-1536)CCT>GCT		coiled-coil domain containing 85A							92.0	92.0	92.0					2																	56603032		2026	4185	6211	SO:0001583	missense	114800							g.chr2:56603032C>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1534C>G	2.37:g.56603032C>G	ENSP00000384040:p.Pro512Ala						p.P512A	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	2036	+			512						Missense_Mutation	SNP	ENST00000407595.2	37	c.1534C>G	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	4.258	0.046944	0.08243	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	5.15	0.70609	.	0.218069	0.30419	N	0.009670	T	0.21761	0.0524	N	0.03608	-0.345	0.33256	D	0.559074	B	0.17852	0.024	B	0.15870	0.014	T	0.14227	-1.0480	9	0.02654	T	1	-19.4023	13.7803	0.63079	0.0:0.8343:0.1657:0.0	.	512	Q96PX6	CC85A_HUMAN	A	512;101	.	ENSP00000384040:P512A	P	+	1	0	CCDC85A	56456536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.366000	0.44204	2.673000	0.90976	0.467000	0.42956	CCT		PASS	0.473	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			21	50	21	50	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61319611	61319611	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:61319611G>T	ENST00000402291.1	+	11	1342	c.1101G>T	c.(1099-1101)tgG>tgT	p.W367C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.W367C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.W367C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.W367C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	367								p.W367C(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAAGACATGGGATGTTCATG	0.318																																						uc002saw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1099-1101)TGG>TGT		KIAA1841 protein isoform a							88.0	94.0	92.0					2																	61319611		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61319611G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1101G>T	2.37:g.61319611G>T	ENSP00000385579:p.Trp367Cys					KIAA1841_uc002sax.3_Missense_Mutation_p.W221C|KIAA1841_uc002say.2_Missense_Mutation_p.W367C	p.W367C	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		11	1404	+			367					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1101G>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359001	0.82353	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86597	0.1864	9	0.87932	D	0	-10.1003	19.5405	0.95272	0.0:0.0:1.0:0.0	.	367;367	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	C	367	.	ENSP00000295031:W367C	W	+	3	0	KIAA1841	61173115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.698000	0.98700	2.608000	0.88229	0.555000	0.69702	TGG		PASS	0.318	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		8	384	8	384	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61459593	61459593	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:61459593C>T	ENST00000398571.2	-	58	7183	c.7107G>A	c.(7105-7107)gtG>gtA	p.V2369V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2369					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V2369V(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACCTGTCTCACAATTTGAT	0.308																																						uc002sbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(7105-7107)GTG>GTA		ubiquitin specific protease 34							85.0	79.0	81.0					2																	61459593		1822	4086	5908	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61459593C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7107G>A	2.37:g.61459593C>T						USP34_uc002sbf.2_Silent_p.V519V	p.V2369V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		58	7129	-			2369					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.7107G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053687	0.19907	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.66	3.88	0.44766	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49542	-0.8929	4	.	.	.	.	6.0372	0.19714	0.0:0.6452:0.1368:0.218	.	.	.	.	K	129	.	.	E	-	1	0	USP34	61313097	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.403000	0.34612	0.767000	0.33267	0.585000	0.79938	GAG		PASS	0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			81	149	81	149	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61459646	61459646	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:61459646C>G	ENST00000398571.2	-	58	7130	c.7054G>C	c.(7054-7056)Gat>Cat	p.D2352H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2352					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D2352H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGTCGTCATCAGCCATACGA	0.308																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(7054-7056)GAT>CAT		ubiquitin specific protease 34							90.0	84.0	86.0					2																	61459646		1836	4098	5934	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61459646C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7054G>C	2.37:g.61459646C>G	ENSP00000381577:p.Asp2352His					USP34_uc002sbf.2_Missense_Mutation_p.D502H	p.D2352H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		58	7076	-			2352					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7054G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716230|4.716230	0.89205|0.89205	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734|ENST00000411912	T;T|.	0.66638|.	-0.22;3.7|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56411|.	0.1983|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	D|.	0.67900|.	0.954|.	T|.	0.49579|.	-0.8925|.	10|.	0.45353|.	T|.	0.12|.	.|.	19.7469|19.7469	0.96255|0.96255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2352|.	Q70CQ2|.	UBP34_HUMAN|.	H|S	2200;2200;2352;630|111	ENSP00000381577:D2352H;ENSP00000410559:D630H|.	ENSP00000263989:D2200H|.	D|X	-|-	1|2	0|2	USP34|USP34	61313150|61313150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.681000|2.681000	0.91329|0.91329	0.585000|0.585000	0.79938|0.79938	GAT|TGA		PASS	0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			69	152	69	152	---	---	---	---
APLF	200558	broad.mit.edu	37	2	68772369	68772369	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:68772369A>T	ENST00000303795.4	+	8	1382	c.1211A>T	c.(1210-1212)tAt>tTt	p.Y404F	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	404					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Y404F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GATAGTGATTATGGAGGTGTA	0.413																																						uc002sep.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1210-1212)TAT>TTT		aprataxin and PNKP like factor							151.0	142.0	145.0					2																	68772369		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772369A>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1211A>T	2.37:g.68772369A>T	ENSP00000307004:p.Tyr404Phe					APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.Y380F|APLF_uc002ser.1_Missense_Mutation_p.Y135F	p.Y404F	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			8	1384	+			404					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1211A>T	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	17.65	3.441019	0.63067	.	.	ENSG00000169621	ENST00000303795	T	0.30981	1.51	5.41	2.88	0.33553	.	0.068278	0.64402	N	0.000014	T	0.31949	0.0813	M	0.70595	2.14	0.48762	D	0.999703	B	0.17667	0.023	B	0.19666	0.026	T	0.14392	-1.0474	10	0.45353	T	0.12	.	10.037	0.42135	0.733:0.0:0.0:0.267	.	404	Q8IW19	APLF_HUMAN	F	404	ENSP00000307004:Y404F	ENSP00000307004:Y404F	Y	+	2	0	APLF	68625873	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	4.650000	0.61440	0.869000	0.35703	-0.531000	0.04308	TAT		PASS	0.413	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		21	38	21	38	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69046265	69046265	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:69046265G>T	ENST00000295381.3	+	9	1430	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.Q31H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Q298H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Q338H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Q330H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Q331H|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Q331H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	337	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q338H(1)|p.Q331H(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGACTCCTCAGATCCAAAGAG	0.498																																						uc002seu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1009-1011)CAG>CAT		Rho GTPase activating protein 25 isoform a							177.0	193.0	188.0					2																	69046265		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046265G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1011G>T	2.37:g.69046265G>T	ENSP00000295381:p.Gln337His					ARHGAP25_uc010fdg.2_Missense_Mutation_p.Q338H|ARHGAP25_uc010yql.1_Missense_Mutation_p.Q298H|ARHGAP25_uc002sev.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sew.2_Missense_Mutation_p.Q330H|ARHGAP25_uc002sex.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sey.2_Missense_Mutation_p.Q64H	p.Q337H	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1375	+			337			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1011G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.41|17.41	3.382187|3.382187	0.61845|0.61845	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|.	0.41400|.	1.0;2.82;2.82;1.0;2.82;2.82;2.01|.	4.97|4.97	0.749|0.749	0.18381|0.18381	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.253143|.	0.39687|.	N|.	0.001298|.	T|T	0.50973|0.50973	0.1647|0.1647	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.67145|.	0.991;0.996;0.996;0.996;0.995;0.975|.	P;D;D;D;P;P|.	0.65443|.	0.747;0.935;0.935;0.935;0.871;0.719|.	T|T	0.36672|0.36672	-0.9738|-0.9738	10|5	0.13470|.	T|.	0.59|.	.|.	14.0645|14.0645	0.64819|0.64819	0.1904:0.0:0.8096:0.0|0.1904:0.0:0.8096:0.0	.|.	298;338;331;330;331;337|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	H|I	337;338;298;330;331;331;331;322;31|197	ENSP00000295381:Q337H;ENSP00000386911:Q338H;ENSP00000420583:Q298H;ENSP00000386863:Q330H;ENSP00000386241:Q331H;ENSP00000417139:Q331H;ENSP00000417467:Q31H|.	ENSP00000295381:Q337H|.	Q|R	+|+	3|2	2|0	ARHGAP25|ARHGAP25	68899769|68899769	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	1.155000|1.155000	0.31700|0.31700	0.019000|0.019000	0.15079|0.15079	0.563000|0.563000	0.77884|0.77884	CAG|AGA		PASS	0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		8	341	8	341	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593698	74593698	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:74593698G>A	ENST00000361874.3	-	22	2833	c.2516C>T	c.(2515-2517)gCt>gTt	p.A839V	DCTN1_ENST00000409240.1_Missense_Mutation_p.A802V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A822V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A832V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A819V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A705V|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409438.1_Missense_Mutation_p.A705V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	839					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.A839V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCAGCACAGCCACGACCCA	0.582																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2515-2517)GCT>GTT		dynactin 1 isoform 1							140.0	138.0	138.0					2																	74593698		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593698G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2516C>T	2.37:g.74593698G>A	ENSP00000354791:p.Ala839Val					DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A705V|DCTN1_uc002sku.2_Missense_Mutation_p.A705V|DCTN1_uc002skw.1_Missense_Mutation_p.A815V|DCTN1_uc010ffd.2_Missense_Mutation_p.A819V|DCTN1_uc002sky.2_Missense_Mutation_p.A802V	p.A839V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			22	2827	-			839					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2516C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757032	0.89843	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	.	0.000000	0.39687	N	0.001281	D	0.89171	0.6639	L	0.56769	1.78	0.80722	D	1	D;P;D;P;D;D	0.67145	0.965;0.925;0.993;0.774;0.98;0.996	P;P;D;B;P;D	0.75484	0.55;0.649;0.968;0.351;0.669;0.986	D	0.86806	0.1995	10	0.32370	T	0.25	-4.3899	17.9185	0.88959	0.0:0.0:1.0:0.0	.	819;802;839;832;705;705	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	839;832;822;705;705;802;822;819	ENSP00000354791:A839V;ENSP00000377571:A832V;ENSP00000384844:A705V;ENSP00000387270:A705V;ENSP00000386406:A802V;ENSP00000387327:A822V;ENSP00000386843:A819V	ENSP00000354791:A839V	A	-	2	0	DCTN1	74447206	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.410000	0.97335	2.769000	0.95229	0.563000	0.77884	GCT		PASS	0.582	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		53	136	53	136	---	---	---	---
TMEM150A	129303	broad.mit.edu	37	2	85826823	85826823	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:85826823C>A	ENST00000409668.1	-	6	866	c.399G>T	c.(397-399)gtG>gtT	p.V133V	TMEM150A_ENST00000306353.3_Silent_p.V80V|TMEM150A_ENST00000334462.5_Silent_p.V133V			Q86TG1	T150A_HUMAN	transmembrane protein 150A	133					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V133V(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TGGCATGATCCACCTGGGCCC	0.607																																						uc002spw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)GTG>GTT		transmembrane protein 150A isoform 1							41.0	33.0	36.0					2																	85826823		2203	4300	6503	SO:0001819	synonymous_variant	129303					integral to membrane|plasma membrane		g.chr2:85826823C>A	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.399G>T	2.37:g.85826823C>A						TMEM150A_uc002spx.1_Silent_p.V49V|TMEM150A_uc002spz.1_Silent_p.V80V|TMEM150A_uc002sqa.1_Silent_p.V49V|TMEM150A_uc002spy.1_Silent_p.V133V	p.V133V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN			6	1120	-			133			Extracellular (Potential).		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	c.399G>T	CCDS33233.1																																																																																				PASS	0.607	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		5	59	5	59	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88857340	88857340	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:88857340T>C	ENST00000303236.3	-	17	3566	c.3265A>G	c.(3265-3267)Aga>Gga	p.R1089G	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R938G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1089					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.R1089G(1)		ovary(3)	3						GACCTCTGTCTGAGCACTGTT	0.453																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3265-3267)AGA>GGA		eukaryotic translation initiation factor 2-alpha							262.0	247.0	252.0					2																	88857340		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88857340T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3265A>G	2.37:g.88857340T>C	ENSP00000307235:p.Arg1089Gly						p.R1089G	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			17	3467	-			1089			Cytoplasmic (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.3265A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585551	0.66105	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951	T;T	0.19938	2.11;2.11	5.65	1.69	0.24217	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.34521	1.04	0.43494	D	0.995739	D	0.76494	0.999	D	0.78314	0.991	T	0.01661	-1.1301	10	0.52906	T	0.07	-27.1317	14.3147	0.66440	0.0:0.0:0.492:0.508	.	1089	Q9NZJ5	E2AK3_HUMAN	G	938;1089;938	ENSP00000408325:R938G;ENSP00000307235:R1089G	ENSP00000307235:R1089G	R	-	1	2	EIF2AK3	88638455	1.000000	0.71417	0.996000	0.52242	0.878000	0.50629	2.212000	0.42835	0.102000	0.17638	0.533000	0.62120	AGA		PASS	0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		42	29	42	29	---	---	---	---
IGKV3-15	28913	broad.mit.edu	37	2	89384807	89384807	+	RNA	SNP	C	C	T	rs568392727	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:89384807C>T	ENST00000390252.2	-	0	307									immunoglobulin kappa variable 3-15																		CTGGTGGATGCACCATAGATG	0.577													N|||	2	0.000399361	0.0	0.0014	5008	,	,		10435	0.001		0.0	False		,,,				2504	0.0					uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							43.0	40.0	41.0					2																	89384807		1855	4084	5939			0							g.chr2:89384807C>T	M23090		2p11.2	2012-02-08			ENSG00000244437	ENSG00000244437		"""Immunoglobulins / IGK locus"""	5816	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151653		2.37:g.89384807C>T						uc002stl.2_Intron								50		-									RNA	SNP	ENST00000390252.2	37	c.5333G>A																																																																																					PASS	0.577	IGKV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323402.1	NG_000834		23	13	23	13	---	---	---	---
IGKV1-17	28937	broad.mit.edu	37	2	89417018	89417018	+	RNA	SNP	C	C	T	rs77497402		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:89417018C>T	ENST00000490686.1	-	0	192									immunoglobulin kappa variable 1-17																		TGATACCAGCCTAAATCATTT	0.527													.|||	1	0.000199681	0.0	0.0014	5008	,	,		7871	0.0		0.0	False		,,,				2504	0.0					uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							72.0	92.0	87.0					2																	89417018		1375	3954	5329			0							g.chr2:89417018C>T	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417018C>T						uc002stl.2_Intron								42		-									RNA	SNP	ENST00000490686.1	37	c.4584G>A																																																																																					PASS	0.527	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		48	18	48	18	---	---	---	---
KANSL3	55683	broad.mit.edu	37	2	97276805	97276805	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:97276805C>T	ENST00000431828.1	-	10	1233	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.R299K|KANSL3_ENST00000441706.2_Missense_Mutation_p.R299K|KANSL3_ENST00000440133.1_Missense_Mutation_p.R180K			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	386					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R386K(1)									TCTTACCCCTCTGGGGCCATC	0.512																																						uc002swn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)AGA>AAA		hypothetical protein LOC55683 isoform a							110.0	116.0	114.0					2																	97276805		2098	4230	6328	SO:0001583	missense	55683							g.chr2:97276805C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1157G>A	2.37:g.97276805C>T	ENSP00000396749:p.Arg386Lys					KIAA1310_uc002swh.3_Missense_Mutation_p.R274K|KIAA1310_uc002swi.3_Missense_Mutation_p.R287K|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R299K|KIAA1310_uc010fhz.2_Missense_Mutation_p.R180K|KIAA1310_uc002swl.3_Missense_Mutation_p.R287K|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.R180K|KIAA1310_uc002swp.1_Missense_Mutation_p.R287K|KIAA1310_uc002swq.1_Missense_Mutation_p.R158K|KIAA1310_uc010fhy.1_Missense_Mutation_p.R287K	p.R386K	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			10	1303	-			386					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1157G>A	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002666	0.93227	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.22134	1.97;1.97;1.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.69078	0.997;0.99;0.996;0.99	D;D;D;D	0.79108	0.992;0.98;0.987;0.98	T	0.33828	-0.9853	10	0.54805	T	0.06	.	17.6117	0.88055	0.0:1.0:0.0:0.0	.	180;386;299;274	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	K	299;274;386;299;180;180;299	ENSP00000396749:R386K;ENSP00000400678:R299K;ENSP00000406207:R180K	ENSP00000346144:R299K	R	-	2	0	KIAA1310	96640532	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.973000	0.70456	2.759000	0.94783	0.557000	0.71058	AGA		PASS	0.512	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		49	70	49	70	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102452415	102452415	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:102452415C>T	ENST00000347699.4	+	9	748	c.748C>T	c.(748-750)Cct>Tct	p.P250S	MAP4K4_ENST00000413150.2_Missense_Mutation_p.P250S|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.P230S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.P250S|MAP4K4_ENST00000324219.4_Missense_Mutation_p.P250S|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Missense_Mutation_p.P250S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P250S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAAACCCTCCTCCCCGGCT	0.408																																						uc002tbg.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(748-750)CCT>TCT		mitogen-activated protein kinase kinase kinase							76.0	79.0	78.0					2																	102452415		1855	4099	5954	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102452415C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.748C>T	2.37:g.102452415C>T	ENSP00000314363:p.Pro250Ser					MAP4K4_uc002tbc.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbd.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbe.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbf.2_Missense_Mutation_p.P250S|MAP4K4_uc010yvy.1_Missense_Mutation_p.P250S|MAP4K4_uc002tbh.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.P230S|MAP4K4_uc010fiw.1_Missense_Mutation_p.P92S|MAP4K4_uc002tbj.1_Missense_Mutation_p.P146S	p.P250S	NM_145687	NP_663720	O95819	M4K4_HUMAN			9	803	+			250			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.748C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221507	0.79464	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;2.53	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.42686	1.345	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.71674	0.962;0.998;0.986;0.962;0.992;0.997;0.997;0.992;0.996;0.996	D;D;D;D;D;D;D;D;D;D	0.81914	0.939;0.988;0.946;0.939;0.924;0.995;0.995;0.924;0.991;0.991	T	0.76132	-0.3071	10	0.87932	D	0	.	19.8686	0.96842	0.0:1.0:0.0:0.0	.	230;250;250;230;250;250;250;250;250;250	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	S	250;250;250;250;250;212;230	ENSP00000392830:P250S;ENSP00000313644:P250S;ENSP00000281111:P250S;ENSP00000389752:P250S;ENSP00000314363:P250S;ENSP00000409720:P212S;ENSP00000343658:P230S	ENSP00000313644:P250S	P	+	1	0	MAP4K4	101818847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.768000	0.95171	0.655000	0.94253	CCT		PASS	0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		6	22	6	22	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103142717	103142717	+	Splice_Site	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:103142717G>A	ENST00000295269.4	+	11	2407		c.e11-1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTACCCACAGGCTGGCACCA	0.507																																						uc002tbz.3																			1	Unknown(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.e11-1		solute carrier family 9 (sodium/hydrogen							133.0	128.0	130.0					2																	103142717		2203	4300	6503	SO:0001630	splice_region_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103142717G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1951-1G>A	2.37:g.103142717G>A							p.A651_splice	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			11	2408	+								Q69YK0	Splice_Site	SNP	ENST00000295269.4	37	c.1951_splice	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024960	0.75390	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9798	0.86324	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A4	102509149	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.479000	0.66813	2.735000	0.93741	0.655000	0.94253	.		PASS	0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	Intron	36	72	36	72	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109384025	109384025	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:109384025A>G	ENST00000283195.6	+	20	7156	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2344	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K2344E(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGATATGATAAAGATGTTGG	0.363																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7030-7032)AAA>GAA		RAN binding protein 2							151.0	170.0	163.0					2																	109384025		2193	4294	6487	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384025A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7030A>G	2.37:g.109384025A>G	ENSP00000283195:p.Lys2344Glu						p.K2344E	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7156	+			2344			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7030A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374241	0.42105	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.42900	0.96	5.9	5.9	0.94986	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.60894	0.2304	L	0.58101	1.795	0.29050	N	0.884545	D	0.67145	0.996	D	0.74348	0.983	T	0.57551	-0.7792	9	0.32370	T	0.25	-29.3378	16.3264	0.82983	1.0:0.0:0.0:0.0	.	2344	P49792	RBP2_HUMAN	E	1368;2344	ENSP00000283195:K2344E	ENSP00000283195:K2344E	K	+	1	0	RANBP2	108750457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.256000	0.78350	2.259000	0.74868	0.374000	0.22700	AAA		PASS	0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		109	145	109	145	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116572495	116572495	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:116572495G>A	ENST00000410059.1	+	20	2307	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	DPP10_ENST00000393147.2_Silent_p.L613L|DPP10_ENST00000409163.1_Silent_p.L559L|DPP10_ENST00000310323.8_Silent_p.L602L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	609						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L602L(1)|p.L609L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCAGGGTCTGAAAATTTTGC	0.383																																						uc002tla.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1825-1827)CTG>CTA		dipeptidyl peptidase 10 isoform long							120.0	124.0	123.0					2																	116572495		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572495G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1827G>A	2.37:g.116572495G>A						DPP10_uc002tlb.1_Silent_p.L559L|DPP10_uc002tlc.1_Silent_p.L605L|DPP10_uc002tle.2_Silent_p.L613L|DPP10_uc002tlf.1_Silent_p.L602L	p.L609L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			20	2284	+			609			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.1827G>A	CCDS46400.1																																																																																				PASS	0.383	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		15	59	15	59	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125671847	125671847	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:125671847A>C	ENST00000431078.1	+	24	4267	c.3903A>C	c.(3901-3903)aaA>aaC	p.K1301N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1301					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.K1301N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCGAGTGTAAACGGGAATATT	0.408																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3901-3903)AAA>AAC		contactin associated protein-like 5 precursor							99.0	102.0	101.0					2																	125671847		1864	4106	5970	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671847A>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3903A>C	2.37:g.125671847A>C	ENSP00000399013:p.Lys1301Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.K1302N	p.K1301N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4267	+			1301			Cytoplasmic (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3903A>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060319	0.76074	.	.	ENSG00000155052	ENST00000431078	D	0.90563	-2.69	6.14	-1.28	0.09318	.	0.000000	0.52532	D	0.000065	D	0.94775	0.8313	M	0.90019	3.08	0.34114	D	0.663323	D	0.76494	0.999	D	0.80764	0.994	D	0.94206	0.7454	10	0.28530	T	0.3	.	13.3412	0.60545	0.8101:0.0:0.1899:0.0	.	1301	Q8WYK1	CNTP5_HUMAN	N	1301	ENSP00000399013:K1301N	ENSP00000399013:K1301N	K	+	3	2	CNTNAP5	125388317	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	0.860000	0.27871	-0.132000	0.11557	0.519000	0.50382	AAA		PASS	0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			17	33	17	33	---	---	---	---
POLR2D	5433	broad.mit.edu	37	2	128610593	128610593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:128610593C>A	ENST00000272645.4	-	2	216	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	POLR2D_ENST00000409955.1_Nonsense_Mutation_p.E54*|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Nonsense_Mutation_p.E16*	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	54					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)	p.E54*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		AGCTCCTGTTCGTCCTCTGCA	0.418																																						uc002tpj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(160-162)GAA>TAA		DNA directed RNA polymerase II polypeptide D							169.0	160.0	163.0					2																	128610593		2203	4300	6503	SO:0001587	stop_gained	5433				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	g.chr2:128610593C>A	U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.160G>T	2.37:g.128610593C>A	ENSP00000272645:p.Glu54*					POLR2D_uc002tpk.2_Nonsense_Mutation_p.E54*	p.E54*	NM_004805	NP_004796	O15514	RPB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0675)	2	215	-	Colorectal(110;0.1)		54					Q52LT4	Nonsense_Mutation	SNP	ENST00000272645.4	37	c.160G>T	CCDS2151.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519831	0.85495	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.68	14.403	0.67063	0.0:0.9285:0.0:0.0715	.	.	.	.	X	54;54;16	.	ENSP00000272645:E54X	E	-	1	0	POLR2D	128327063	1.000000	0.71417	0.919000	0.36401	0.643000	0.38383	7.786000	0.85741	1.293000	0.44690	-0.263000	0.10527	GAA		PASS	0.418	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805		9	68	9	68	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707902	128707902	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:128707902G>A	ENST00000259235.3	-	16	2605	c.2476C>T	c.(2476-2478)Cta>Tta	p.L826L	SAP130_ENST00000259234.6_Silent_p.L834L|SAP130_ENST00000357702.5_Silent_p.L861L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	826	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L861L(1)|p.L826L(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCAGGTGGTAGGTCACTTGTA	0.488																																						uc002tpp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(2476-2478)CTA>TTA		Sin3A-associated protein, 130kDa isoform b							176.0	156.0	163.0					2																	128707902		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707902G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2476C>T	2.37:g.128707902G>A						SAP130_uc002tpn.2_Silent_p.L586L|SAP130_uc002tpo.2_Silent_p.L606L|SAP130_uc010fmd.2_Silent_p.L861L	p.L826L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	16	2608	-	Colorectal(110;0.1)		826			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.2476C>T	CCDS2153.1																																																																																				PASS	0.488	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		37	47	37	47	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128747236	128747236	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:128747236C>G	ENST00000259235.3	-	13	1889	c.1760G>C	c.(1759-1761)gGc>gCc	p.G587A	SAP130_ENST00000259234.6_Missense_Mutation_p.G561A|SAP130_ENST00000357702.5_Missense_Mutation_p.G587A	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	587					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.G587A(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCCTGTGTGCCAAGTGGTGC	0.567																																						uc002tpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1759-1761)GGC>GCC		Sin3A-associated protein, 130kDa isoform b							129.0	123.0	125.0					2																	128747236		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747236C>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1760G>C	2.37:g.128747236C>G	ENSP00000259235:p.Gly587Ala					SAP130_uc002tpn.2_Missense_Mutation_p.G348A|SAP130_uc002tpo.2_Missense_Mutation_p.G332A|SAP130_uc010fmd.2_Missense_Mutation_p.G587A|SAP130_uc002tpq.1_Missense_Mutation_p.G560A	p.G587A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1892	-	Colorectal(110;0.1)		587					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1760G>C	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377474	0.61735	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.7	5.7	0.88788	.	0.147827	0.64402	D	0.000007	T	0.53753	0.1816	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D;P	0.71674	0.993;0.995;0.99;0.998;0.93	P;P;P;D;P	0.68765	0.879;0.861;0.861;0.96;0.705	T	0.43877	-0.9364	9	0.07175	T	0.84	-9.5799	13.0852	0.59135	0.0:0.9269:0.0:0.0731	.	587;560;587;117;225	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	A	587;587;561	.	ENSP00000259234:G561A	G	-	2	0	SAP130	128463706	1.000000	0.71417	0.984000	0.44739	0.903000	0.53119	5.637000	0.67854	2.687000	0.91594	0.655000	0.94253	GGC		PASS	0.567	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		22	42	22	42	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128913974	128913974	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:128913974T>A	ENST00000259253.6	+	21	2292	c.2245T>A	c.(2245-2247)Tcc>Acc	p.S749T	UGGT1_ENST00000375990.3_Missense_Mutation_p.S725T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	749					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.S749T(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAATGTCCTCCAAGGAAAT	0.299																																						uc002tps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2245-2247)TCC>ACC		UDP-glucose ceramide glucosyltransferase-like 1							120.0	116.0	118.0					2																	128913974		2202	4300	6502	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128913974T>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2245T>A	2.37:g.128913974T>A	ENSP00000259253:p.Ser749Thr					UGGT1_uc010fme.1_Missense_Mutation_p.S624T|UGGT1_uc002tpr.2_Missense_Mutation_p.S725T	p.S749T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			21	2423	+			749					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2245T>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260285	0.39995	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29142	1.58;1.58	5.32	5.32	0.75619	.	0.120650	0.56097	D	0.000022	T	0.30885	0.0779	L	0.54323	1.7	0.52501	D	0.999956	B;B	0.13594	0.008;0.002	B;B	0.11329	0.006;0.001	T	0.06162	-1.0842	9	.	.	.	.	15.5885	0.76506	0.0:0.0:0.0:1.0	.	725;749	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	725;749	ENSP00000365158:S725T;ENSP00000259253:S749T	.	S	+	1	0	UGGT1	128630444	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.702000	0.68332	2.133000	0.65898	0.455000	0.32223	TCC		PASS	0.299	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		14	28	14	28	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135180449	135180449	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:135180449G>C	ENST00000409645.1	+	14	2005	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	MGAT5_ENST00000281923.2_Missense_Mutation_p.E585Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	585					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.E585Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAACAATCAGGAGGAAGTAGA	0.433																																						uc002ttv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1753-1755)GAG>CAG		N-acetylglucosaminyltransferase V							140.0	141.0	140.0					2																	135180449		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135180449G>C	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1753G>C	2.37:g.135180449G>C	ENSP00000386377:p.Glu585Gln						p.E585Q	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	13	1898	+			585			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1753G>C	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403742	0.25291	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.91	1.87	0.25490	.	0.492086	0.24012	N	0.042380	T	0.24586	0.0596	N	0.25485	0.75	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.12142	-1.0559	9	0.40728	T	0.16	-17.4764	4.7796	0.13195	0.1384:0.1941:0.5423:0.1251	.	585	Q09328	MGT5A_HUMAN	Q	585	.	ENSP00000281923:E585Q	E	+	1	0	MGAT5	134896919	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.320000	0.43797	0.419000	0.25927	-0.150000	0.13652	GAG		PASS	0.433	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		6	62	6	62	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:141072507G>T	ENST00000389484.3	-	83	13773	c.12802C>A	c.(12802-12804)Cta>Ata	p.L4268I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.L4268I(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)		TATTTACCTAGAACTGATGGT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12802-12804)CTA>ATA		low density lipoprotein-related protein 1B							110.0	106.0	107.0					2																	141072507		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072507G>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.12802C>A	2.37:g.141072507G>T	ENSP00000374135:p.Leu4268Ile	TSP Lung(27;0.18)					p.L4268I	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)	83	13774	-		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)	4268			Extracellular (Potential).|EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12802C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151562|3.151562	0.57151|0.57151	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.92495	.|-3.05	5.9|5.9	4.96|4.96	0.65561|0.65561	.|EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.099216	.|0.42172	.|D	.|0.000749	D|D	0.92424|0.92424	0.7595|0.7595	L|L	0.28504|0.28504	0.86|0.86	0.42780|0.42780	D|D	0.99386|0.99386	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.90260|0.90260	0.4300|0.4300	5|10	.|0.21014	.|T	.|0.42	.|.	13.5296|13.5296	0.61615|0.61615	0.0823:0.0:0.9177:0.0|0.0823:0.0:0.9177:0.0	.|.	.|4268	.|Q9NZR2	.|LRP1B_HUMAN	L|I	499|4268;4206	.|ENSP00000374135:L4268I	.|ENSP00000374135:L4268I	F|L	-|-	3|1	2|2	LRP1B|LRP1B	140788977|140788977	1.000000|1.000000	0.71417|0.71417	0.763000|0.763000	0.31416|0.31416	0.122000|0.122000	0.20287|0.20287	4.911000|4.911000	0.63328|0.63328	1.357000|1.357000	0.45904|0.45904	0.655000|0.655000	0.94253|0.94253	TTC|CTA		PASS	0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	22	15	22	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141081480	141081480	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:141081480G>A	ENST00000389484.3	-	81	13467	c.12496C>T	c.(12496-12498)Cgt>Tgt	p.R4166C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4166					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.R4166C(2)		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)		TGTTTATAACGATGAGATATC	0.244										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12496-12498)CGT>TGT		low density lipoprotein-related protein 1B							50.0	57.0	55.0					2																	141081480		2201	4288	6489	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081480G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12496C>T	2.37:g.141081480G>A	ENSP00000374135:p.Arg4166Cys	TSP Lung(27;0.18)					p.R4166C	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)	81	13468	-		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)	4166			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12496C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576837	0.86645	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.37	5.37	0.77165	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.92335	0.7568	M	0.61703	1.905	0.58432	D	0.999999	D	0.71674	0.998	P	0.50791	0.65	D	0.92577	0.6071	10	0.56958	D	0.05	.	19.4645	0.94932	0.0:0.0:1.0:0.0	.	4166	Q9NZR2	LRP1B_HUMAN	C	4166;4104	ENSP00000374135:R4166C	ENSP00000374135:R4166C	R	-	1	0	LRP1B	140797950	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.363000	0.97131	2.679000	0.91253	0.655000	0.94253	CGT		PASS	0.244	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	13	6	13	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141533709	141533709	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:141533709C>T	ENST00000389484.3	-	33	6429	c.5458G>A	c.(5458-5460)Ggg>Agg	p.G1820R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1820					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.G1820R(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)		TGAACTACCCCAGAAGTCTTA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5458-5460)GGG>AGG		low density lipoprotein-related protein 1B							136.0	129.0	132.0					2																	141533709		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533709C>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.5458G>A	2.37:g.141533709C>T	ENSP00000374135:p.Gly1820Arg	TSP Lung(27;0.18)					p.G1820R	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)	33	6430	-		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)	1820			Extracellular (Potential).|LDL-receptor class B 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5458G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731403	0.48939	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90844	-2.74	5.39	5.39	0.77823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	L	0.41079	1.255	0.54753	D	0.999985	D	0.89917	1.0	D	0.72075	0.976	D	0.90389	0.4394	10	0.23891	T	0.37	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	1820	Q9NZR2	LRP1B_HUMAN	R	1820;1758	ENSP00000374135:G1820R	ENSP00000374135:G1820R	G	-	1	0	LRP1B	141250179	0.995000	0.38212	1.000000	0.80357	0.414000	0.31173	3.907000	0.56348	2.702000	0.92279	0.591000	0.81541	GGG		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	32	7	32	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152427088	152427088	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:152427088T>C	ENST00000172853.10	-	80	12085	c.11938A>G	c.(11938-11940)Atg>Gtg	p.M3980V	NEB_ENST00000427231.2_Missense_Mutation_p.M5681V|NEB_ENST00000604864.1_Missense_Mutation_p.M5681V|NEB_ENST00000409198.1_Missense_Mutation_p.M3980V|NEB_ENST00000603639.1_Missense_Mutation_p.M5681V|NEB_ENST00000397345.3_Missense_Mutation_p.M5681V			P20929	NEBU_HUMAN	nebulin	3980					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.M5681V(1)|p.M3980V(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGCCTTCATTTCATCCCAG	0.483																																						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.(11938-11940)ATG>GTG		nebulin isoform 3							25.0	26.0	26.0					2																	152427088		1912	4151	6063	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.chr2:152427088T>C	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.11938A>G	2.37:g.152427088T>C	ENSP00000172853:p.Met3980Val					NEB_uc002txr.2_Missense_Mutation_p.M403V	p.M3980V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12129	-			3980					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11938A>G		.	.	.	.	.	.	.	.	.	.	T	0.036	-1.307693	0.01342	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.93	-4.68	0.03309	.	0.849286	0.11133	N	0.596067	T	0.14485	0.0350	N	0.00788	-1.185	0.26478	N	0.97517	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.39542	-0.9609	10	0.13108	T	0.6	.	11.8532	0.52423	0.0:0.6757:0.0956:0.2287	.	3980;411	P20929;Q14215	NEBU_HUMAN;.	V	3980;5681;5681;29;411;3980	ENSP00000386259:M3980V;ENSP00000380505:M5681V;ENSP00000416578:M5681V;ENSP00000410961:M411V;ENSP00000172853:M3980V	ENSP00000172853:M3980V	M	-	1	0	NEB	152135334	0.000000	0.05858	0.849000	0.33467	0.564000	0.35744	-0.977000	0.03782	-0.485000	0.06754	-0.177000	0.13119	ATG		PASS	0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	9	5	9	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166210793	166210793	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:166210793A>G	ENST00000375437.2	+	17	3301	c.3011A>G	c.(3010-3012)cAg>cGg	p.Q1004R	SCN2A_ENST00000375427.2_Missense_Mutation_p.Q1004R|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q1004R|SCN2A_ENST00000283256.6_Missense_Mutation_p.Q1004R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1004					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q1004R(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAATCTCCAGATTGCTGTG	0.383																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3010-3012)CAG>CGG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						147.0	152.0	150.0					2																	166210793		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210793A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3011A>G	2.37:g.166210793A>G	ENSP00000364586:p.Gln1004Arg					SCN2A_uc002udd.2_Missense_Mutation_p.Q1004R|SCN2A_uc002ude.2_Missense_Mutation_p.Q1004R	p.Q1004R	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			17	3301	+			1004			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3011A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542542	0.85917	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.6	5.6	0.85130	Sodium ion transport-associated (1);	0.091251	0.48767	D	0.000178	D	0.92825	0.7718	M	0.89785	3.06	0.58432	D	0.999997	P;P	0.38250	0.534;0.624	P;P	0.49140	0.451;0.601	D	0.93337	0.6706	10	0.54805	T	0.06	.	15.7718	0.78176	1.0:0.0:0.0:0.0	.	1004;1004	Q99250-2;Q99250	.;SCN2A_HUMAN	R	1004	ENSP00000364586:Q1004R;ENSP00000349973:Q1004R;ENSP00000283256:Q1004R;ENSP00000364576:Q1004R	ENSP00000283256:Q1004R	Q	+	2	0	SCN2A	165919039	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.335000	0.96500	2.110000	0.64415	0.482000	0.46254	CAG		PASS	0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		27	75	27	75	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166870332	166870333	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:166870332_166870333CC>AT	ENST00000303395.4	-	18	3625_3626	c.3626_3627GG>AT	c.(3625-3627)aGG>aAT	p.R1209N	SCN1A_ENST00000375405.3_Missense_Mutation_p.R1198N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R1209N|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1181N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1209					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1198N(1)|p.R1198K(1)|p.R1209K(1)|p.R1209N(1)|p.R1209S(1)|p.R1198S(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAAACACGTCCTTCTCAGGTT	0.396																																						uc010zcz.1																			6	Substitution - Missense(6)		lung(6)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3592-3594)AGG>AGT|c.(3592-3594)AGG>AAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166870332C>A|g.chr2:166870333C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3626_3627delinsAT	2.37:g.166870332_166870333delinsAT	ENSP00000303540:p.Arg1209Asn					SCN1A_uc002udo.3_Missense_Mutation_p.R1078S|SCN1A_uc010fpk.2_Missense_Mutation_p.R1050S|SCN1A_uc002udo.3_Missense_Mutation_p.R1078K|SCN1A_uc010fpk.2_Missense_Mutation_p.R1050K	p.R1198S|p.R1198K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			18	3612|3611	-			1209			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3594G>T|c.3593G>A	CCDS54413.1																																																																																				PASS	0.396	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		13	19|20	13	19	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605328	179605328	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:179605328C>A	ENST00000591111.1	-	46	11905	c.11681G>T	c.(11680-11682)gGg>gTg	p.G3894V	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.G3973V|TTN_ENST00000460472.2_Missense_Mutation_p.G3848V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4040V|TTN_ENST00000589042.1_Missense_Mutation_p.G4211V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G3973V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATAATTCCCTTCAGGTTC	0.388																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12118-12120)GGG>GTG		titin isoform novex-2							117.0	107.0	110.0					2																	179605328		1847	4099	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605328C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11681G>T	2.37:g.179605328C>A	ENSP00000465570:p.Gly3894Val					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G3973V|TTN_uc010zfj.1_Missense_Mutation_p.G3848V|TTN_uc002umz.1_Intron	p.G4040V	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12343	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12119G>T		.	.	.	.	.	.	.	.	.	.	C	9.470	1.095401	0.20471	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.70282	-0.36;-0.46;-0.47	5.51	3.53	0.40419	.	.	.	.	.	T	0.58680	0.2139	N	0.24115	0.695	0.24824	N	0.992565	B;B;B	0.27700	0.03;0.03;0.186	B;B;B	0.29077	0.03;0.03;0.098	T	0.56673	-0.7940	9	0.87932	D	0	.	11.959	0.52997	0.1299:0.8002:0.0:0.07	.	3848;3973;4040	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3848;4040;3973;3848	ENSP00000434586:G3848V;ENSP00000340554:G4040V;ENSP00000352154:G3973V	ENSP00000340554:G4040V	G	-	2	0	TTN	179313573	0.145000	0.22656	0.612000	0.29024	0.801000	0.45260	2.904000	0.48719	1.344000	0.45657	0.655000	0.94253	GGG		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	71	15	71	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179665403	179665403	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:179665403G>A	ENST00000591111.1	-	4	526	c.302C>T	c.(301-303)aCa>aTa	p.T101I	TTN_ENST00000342992.6_Missense_Mutation_p.T101I|TTN_ENST00000359218.5_Missense_Mutation_p.T101I|TTN_ENST00000460472.2_Missense_Mutation_p.T101I|TTN_ENST00000360870.5_Missense_Mutation_p.T101I|TTN_ENST00000342175.6_Missense_Mutation_p.T101I|TTN_ENST00000589042.1_Missense_Mutation_p.T101I			Q8WZ42	TITIN_HUMAN	titin	32713					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T101I(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGGTGCTGTCTCAGCTGC	0.498																																						uc002und.2																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(301-303)ACA>ATA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							111.0	92.0	98.0					2																	179665403		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179665403G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.302C>T	2.37:g.179665403G>A	ENSP00000465570:p.Thr101Ile					TTN_uc010zfg.1_Missense_Mutation_p.T101I|TTN_uc010zfh.1_Missense_Mutation_p.T101I|TTN_uc010zfi.1_Missense_Mutation_p.T101I|TTN_uc010zfj.1_Missense_Mutation_p.T101I|TTN_uc002unb.2_Missense_Mutation_p.T101I	p.T101I			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		4	527	-			101					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.302C>T		.	.	.	.	.	.	.	.	.	.	G	13.91	2.377875	0.42105	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;0.05;0.05;0.03;0.21	5.95	5.07	0.68467	Immunoglobulin-like fold (1);	.	.	.	.	T	0.62756	0.2454	L	0.37750	1.13	0.35659	D	0.81235	P;P;P;P;P	0.49185	0.591;0.821;0.821;0.821;0.92	B;B;B;B;P	0.45377	0.05;0.19;0.19;0.19;0.478	T	0.74556	-0.3626	9	0.87932	D	0	.	15.0667	0.72002	0.0678:0.0:0.9322:0.0	.	101;101;101;101;101	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	101	ENSP00000343764:T101I;ENSP00000434586:T101I;ENSP00000340554:T101I;ENSP00000352154:T101I;ENSP00000354117:T101I	ENSP00000340554:T101I	T	-	2	0	TTN	179373648	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.869000	0.99810	1.534000	0.49203	0.563000	0.77884	ACA		PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	40	20	40	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189876412	189876412	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:189876412G>T	ENST00000304636.3	+	51	4483	c.4313G>T	c.(4312-4314)aGa>aTa	p.R1438I	COL3A1_ENST00000317840.5_Missense_Mutation_p.R1135I	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1438	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R1438I(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAGGCTGTGAGACTACCTATT	0.393																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4312-4314)AGA>ATA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						230.0	207.0	215.0					2																	189876412		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876412G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4313G>T	2.37:g.189876412G>T	ENSP00000304408:p.Arg1438Ile						p.R1438I	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4430	+			1438			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4313G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782897	0.70222	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.76186	-1.0;-1.0	5.7	5.7	0.88788	Fibrillar collagen, C-terminal (4);	0.000000	0.56097	D	0.000035	D	0.88093	0.6344	M	0.82433	2.59	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.88986	0.3411	10	0.87932	D	0	.	19.8298	0.96631	0.0:0.0:1.0:0.0	.	1438	P02461	CO3A1_HUMAN	I	1438;1135	ENSP00000304408:R1438I;ENSP00000315243:R1135I	ENSP00000304408:R1438I	R	+	2	0	COL3A1	189584657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.729000	0.74775	2.687000	0.91594	0.591000	0.81541	AGA		PASS	0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		9	30	9	30	---	---	---	---
GLS	2744	broad.mit.edu	37	2	191795262	191795262	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:191795262G>T	ENST00000320717.3	+	13	1783	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	GLS_ENST00000338435.4_Missense_Mutation_p.G509C|GLS_ENST00000409215.1_Missense_Mutation_p.G14C|GLS_ENST00000409626.1_Missense_Mutation_p.G80C|GLS_ENST00000409428.1_Missense_Mutation_p.G14C	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	509					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.G509C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GGATAAGATGGGCAACAGTGT	0.398																																						uc002usf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1525-1527)GGC>TGC		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						150.0	138.0	142.0					2																	191795262		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191795262G>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1525G>T	2.37:g.191795262G>T	ENSP00000317379:p.Gly509Cys					GLS_uc002use.2_Missense_Mutation_p.G509C|GLS_uc002usg.1_Missense_Mutation_p.G170C|GLS_uc002ush.2_Missense_Mutation_p.G170C|GLS_uc010zgi.1_Missense_Mutation_p.G80C|GLS_uc010zgj.1_Missense_Mutation_p.G14C	p.G509C	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		13	1789	+			509					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1525G>T	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971056	0.92919	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.84	5.84	0.93424	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.99444	4.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.95616	0.8676	10	0.87932	D	0	-4.0253	20.1466	0.98079	0.0:0.0:1.0:0.0	.	80;509;163;509;509	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	C	509;509;80;80;14;14;30	ENSP00000317379:G509C;ENSP00000340689:G509C;ENSP00000386417:G80C;ENSP00000395596:G80C;ENSP00000387177:G14C;ENSP00000387135:G14C;ENSP00000403329:G30C	ENSP00000317379:G509C	G	+	1	0	GLS	191503507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.779000	0.95612	0.591000	0.81541	GGC		PASS	0.398	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			16	52	16	52	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202250994	202250994	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:202250994G>T	ENST00000332624.3	-	14	2338	c.1910C>A	c.(1909-1911)cCa>cAa	p.P637Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	637					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.P637Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCCTGTTACTGGCTTGGATGT	0.418																																						uc002uyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1909-1911)CCA>CAA		trafficking protein, kinesin binding 2							101.0	93.0	96.0					2																	202250994		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202250994G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1910C>A	2.37:g.202250994G>T	ENSP00000328875:p.Pro637Gln						p.P637Q	NM_015049	NP_055864	O60296	TRAK2_HUMAN			14	2356	-			637	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1910C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548385	0.27652	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07216	3.21	4.53	4.53	0.55603	.	0.297182	0.22547	U	0.058654	T	0.12689	0.0308	L	0.54323	1.7	0.80722	D	1	B	0.34103	0.437	B	0.35470	0.203	T	0.05099	-1.0906	10	0.72032	D	0.01	.	17.4619	0.87622	0.0:0.0:1.0:0.0	.	637	O60296	TRAK2_HUMAN	Q	637;543	ENSP00000328875:P637Q	ENSP00000328875:P637Q	P	-	2	0	TRAK2	201959239	1.000000	0.71417	0.911000	0.35937	0.173000	0.22820	3.497000	0.53295	2.362000	0.80069	0.655000	0.94253	CCA		PASS	0.418	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		4	26	4	26	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215843761	215843761	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:215843761G>A	ENST00000272895.7	-	32	4963	c.4744C>T	c.(4744-4746)Cca>Tca	p.P1582S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1264S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1582					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.P1582S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAATTTGGACTCTAAGAG	0.458																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(4744-4746)CCA>TCA		ATP-binding cassette, sub-family A, member 12							77.0	73.0	74.0					2																	215843761		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843761G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4744C>T	2.37:g.215843761G>A	ENSP00000272895:p.Pro1582Ser					ABCA12_uc002vev.2_Missense_Mutation_p.P1264S|ABCA12_uc010zjn.1_Missense_Mutation_p.P509S	p.P1582S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	32	4964	-		Renal(323;0.127)	1582					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4744C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332327	0.24167	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89746	-2.56;-2.54	5.36	4.43	0.53597	.	0.993698	0.08177	N	0.986112	T	0.80417	0.4619	N	0.16708	0.43	0.80722	D	1	B;B	0.34181	0.44;0.026	B;B	0.30646	0.118;0.046	T	0.68934	-0.5278	10	0.09084	T	0.74	.	15.6425	0.77016	0.0:0.1375:0.8625:0.0	.	1582;1264	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	1582;1264	ENSP00000272895:P1582S;ENSP00000374312:P1264S	ENSP00000272895:P1582S	P	-	1	0	ABCA12	215552006	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.838000	0.55828	2.669000	0.90835	0.655000	0.94253	CCA		PASS	0.458	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		12	38	12	38	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227773574	227773574	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:227773574A>C	ENST00000341329.3	+	5	934	c.692A>C	c.(691-693)cAa>cCa	p.Q231P	RHBDD1_ENST00000392062.2_Missense_Mutation_p.Q231P|RHBDD1_ENST00000409053.1_Missense_Mutation_p.Q65P|RHBDD1_ENST00000493526.1_3'UTR	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	231					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Q231P(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCAGGACGGCAATACTACTTT	0.323																																						uc002voi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)CAA>CCA		rhomboid domain containing 1							138.0	130.0	133.0					2																	227773574		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227773574A>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.692A>C	2.37:g.227773574A>C	ENSP00000344779:p.Gln231Pro					RHBDD1_uc010fxc.2_Missense_Mutation_p.Q231P|RHBDD1_uc002voj.2_Missense_Mutation_p.Q62P	p.Q231P	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	5	813	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	231					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.692A>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764434	0.31228	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.49139	0.79;0.79	5.68	3.26	0.37387	.	0.679220	0.15484	N	0.259905	T	0.40979	0.1139	L	0.59436	1.845	0.37878	D	0.930305	B;B	0.20261	0.043;0.001	B;B	0.23018	0.043;0.002	T	0.27839	-1.0062	10	0.37606	T	0.19	-0.1624	5.795	0.18381	0.7448:0.1688:0.0864:0.0	.	22;231	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	P	231;231;65	ENSP00000344779:Q231P;ENSP00000375914:Q231P	ENSP00000344779:Q231P	Q	+	2	0	RHBDD1	227481818	0.408000	0.25360	0.473000	0.27253	0.891000	0.51852	1.185000	0.32065	0.412000	0.25729	0.482000	0.46254	CAA		PASS	0.323	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			12	28	12	28	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884383	228884383	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:228884383G>T	ENST00000392056.3	-	7	1233	c.1187C>A	c.(1186-1188)gCa>gAa	p.A396E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A396E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	396						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A396E(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACGGATTCTGCTAAATTTGT	0.448																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1186-1188)GCA>GAA		sphingosine kinase type 1-interacting protein							165.0	146.0	152.0					2																	228884383		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884383G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1187C>A	2.37:g.228884383G>T	ENSP00000375909:p.Ala396Glu					SPHKAP_uc002vpp.2_Missense_Mutation_p.A396E|SPHKAP_uc010zlx.1_Missense_Mutation_p.A396E	p.A396E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1234	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	396					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1187C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447704	0.84101	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.21932	1.98;1.98	5.75	4.82	0.62117	.	0.049654	0.85682	D	0.000000	T	0.46171	0.1379	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	T	0.42865	-0.9426	10	0.87932	D	0	.	15.4267	0.75059	0.0:0.1389:0.8611:0.0	.	396;396	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	396	ENSP00000375909:A396E;ENSP00000339886:A396E	ENSP00000339886:A396E	A	-	2	0	SPHKAP	228592627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.197000	0.77814	2.742000	0.94016	0.650000	0.86243	GCA		PASS	0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		19	37	19	37	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228996713	228996713	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:228996713T>C	ENST00000392056.3	-	2	167	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.I41V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGCTGTGATGGAGTTCCCC	0.473																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(121-123)ATC>GTC		sphingosine kinase type 1-interacting protein							89.0	96.0	93.0					2																	228996713		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228996713T>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.121A>G	2.37:g.228996713T>C	ENSP00000375909:p.Ile41Val					SPHKAP_uc002vpp.2_Missense_Mutation_p.I41V|SPHKAP_uc010zlx.1_Missense_Mutation_p.I41V	p.I41V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	168	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	41					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.121A>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	2.770	-0.255836	0.05829	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.34667	1.35;1.35	5.63	1.64	0.23874	.	0.151419	0.44483	D	0.000459	T	0.15132	0.0365	N	0.08118	0	0.27597	N	0.949082	B;B	0.10296	0.002;0.003	B;B	0.14578	0.005;0.011	T	0.18555	-1.0333	10	0.20046	T	0.44	-12.1023	6.2009	0.20575	0.0:0.3412:0.0:0.6588	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	41	ENSP00000375909:I41V;ENSP00000339886:I41V	ENSP00000339886:I41V	I	-	1	0	SPHKAP	228704957	1.000000	0.71417	0.996000	0.52242	0.003000	0.03518	1.782000	0.38654	0.510000	0.28216	-0.250000	0.11733	ATC		PASS	0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		12	28	12	28	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233245354	233245354	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:233245354T>G	ENST00000392027.2	+	8	1156	c.887T>G	c.(886-888)aTg>aGg	p.M296R	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	296					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.M296R(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCTGGAGACATGAAATACGAG	0.627																																						uc002vsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)ATG>AGG		placental alkaline phosphatase preproprotein							36.0	42.0	40.0					2																	233245354		2203	4296	6499	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245354T>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.887T>G	2.37:g.233245354T>G	ENSP00000375881:p.Met296Arg					ALPP_uc002vsr.2_5'Flank	p.M296R	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	1052	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	296					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.887T>G	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.088911	0.55968	.	.	ENSG00000163283	ENST00000392027	D	0.96651	-4.08	3.2	-0.827	0.10802	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.847648	0.10712	N	0.642708	D	0.98409	0.9471	H	0.96576	3.845	0.42524	D	0.993019	D	0.76494	0.999	D	0.76071	0.987	D	0.96248	0.9181	10	0.87932	D	0	.	7.9253	0.29870	0.0:0.2763:0.0:0.7237	.	296	P05187	PPB1_HUMAN	R	296	ENSP00000375881:M296R	ENSP00000375881:M296R	M	+	2	0	ALPP	232953598	0.992000	0.36948	0.010000	0.14722	0.241000	0.25554	1.039000	0.30266	-0.082000	0.12640	0.254000	0.18369	ATG		PASS	0.627	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		4	36	4	36	---	---	---	---
UGT1A3	54659	broad.mit.edu	37	2	234638577	234638577	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:234638577A>G	ENST00000482026.1	+	1	824	c.805A>G	c.(805-807)Atc>Gtc	p.I269V	UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.I269V|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	269					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.I269V(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CCCCAGGCCAATCATGCCCAA	0.507																																						uc002vuy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)ATC>GTC		UDP glycosyltransferase 1 family, polypeptide A3							150.0	150.0	150.0					2																	234638577		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234638577A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.805A>G	2.37:g.234638577A>G	ENSP00000418532:p.Ile269Val					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.I269V	p.I269V	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	805	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	269					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.805A>G	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	0.342	-0.950132	0.02285	.	.	ENSG00000243135	ENST00000482026	T	0.59638	0.25	4.0	1.4	0.22301	.	.	.	.	.	T	0.23846	0.0577	N	0.02960	-0.455	0.19945	N	0.999944	B;B	0.14438	0.01;0.01	B;B	0.22880	0.042;0.042	T	0.32188	-0.9916	9	0.02654	T	1	.	3.427	0.07414	0.5224:0.0:0.173:0.3045	.	269;269	Q5DT01;P35503	.;UD13_HUMAN	V	269	ENSP00000418532:I269V	ENSP00000418532:I269V	I	+	1	0	UGT1A3	234303316	0.000000	0.05858	0.938000	0.37757	0.979000	0.70002	-2.523000	0.00949	0.386000	0.24997	0.373000	0.22412	ATC		PASS	0.507	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		31	78	31	78	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238277716	238277716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:238277716G>A	ENST00000295550.4	-	10	4842	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	COL6A3_ENST00000472056.1_Nonsense_Mutation_p.R857*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.R1258*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.R1264*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.R1263*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.R1258*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1464	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1464*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAGTCTTCGAACAATCCTG	0.473																																						uc002vwl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4390-4392)CGA>TGA		alpha 3 type VI collagen isoform 1 precursor							66.0	62.0	63.0					2																	238277716		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277716G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4390C>T	2.37:g.238277716G>A	ENSP00000295550:p.Arg1464*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1258*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R857*	p.R1464*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4675	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1464			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.4390C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857821	0.97889	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.29	2.32	0.28847	.	0.438446	0.19072	N	0.123464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2664	0.49112	0.0:0.123:0.6218:0.2553	.	.	.	.	X	1464;1263;1258;857;1258;1264	.	ENSP00000295550:R1464X	R	-	1	2	COL6A3	237942455	0.217000	0.23597	0.000000	0.03702	0.003000	0.03518	2.326000	0.43849	0.584000	0.29591	-0.188000	0.12872	CGA		PASS	0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	33	5	33	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242407665	242407665	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr2:242407665G>A	ENST00000264042.3	+	18	2174	c.2004G>A	c.(2002-2004)aaG>aaA	p.K668K		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	668	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K668K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCTGCAGAAGGTCTGCTACT	0.552																																						uc002wbi.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2002-2004)AAG>AAA		FERM, RhoGEF and pleckstrin domain protein 2							133.0	116.0	122.0					2																	242407665		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242407665G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2004G>A	2.37:g.242407665G>A							p.K668K	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	18	2121	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	668			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2004G>A	CCDS33424.1																																																																																				PASS	0.552	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			28	48	28	48	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108147433	108147433	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:108147433T>A	ENST00000273353.3	-	28	3724	c.3668A>T	c.(3667-3669)cAg>cTg	p.Q1223L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1223						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1223L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTGACCTGCTGTAGATTTTC	0.483																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(3667-3669)CAG>CTG		myosin, heavy polypeptide 15							172.0	161.0	164.0					3																	108147433		1945	4146	6091	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147433T>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3668A>T	3.37:g.108147433T>A	ENSP00000273353:p.Gln1223Leu						p.Q1223L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			28	3725	-			1223			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.3668A>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702353	0.48307	.	.	ENSG00000144821	ENST00000273353	T	0.80480	-1.38	5.21	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.90679	0.7076	M	0.91249	3.19	0.46749	D	0.999182	D	0.89917	1.0	D	0.91635	0.999	D	0.91320	0.5081	9	0.87932	D	0	.	11.0914	0.48119	0.0:0.0732:0.0:0.9268	.	1223	Q9Y2K3	MYH15_HUMAN	L	1223	ENSP00000273353:Q1223L	ENSP00000273353:Q1223L	Q	-	2	0	MYH15	109630123	1.000000	0.71417	0.008000	0.14137	0.061000	0.15899	4.154000	0.58125	0.931000	0.37242	0.528000	0.53228	CAG		PASS	0.483	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		30	85	30	85	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109023411	109023411	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:109023411C>A	ENST00000478945.1	-	7	1011	c.765G>T	c.(763-765)agG>agT	p.R255S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	255					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R255S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATCATCCTCCTGTGAGTGG	0.517																																						uc003dxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(763-765)AGG>AGT		developmental pluripotency associated 2							80.0	74.0	76.0					3																	109023411		2203	4298	6501	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023411C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.765G>T	3.37:g.109023411C>A	ENSP00000417710:p.Arg255Ser						p.R255S	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			7	1012	-			255					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.765G>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	9.230	1.035619	0.19590	.	.	ENSG00000163530	ENST00000478945	T	0.30714	1.52	4.9	-0.126	0.13515	.	1.171540	0.06123	N	0.669227	T	0.22437	0.0541	L	0.40543	1.245	0.09310	N	1	P	0.39862	0.692	B	0.36244	0.22	T	0.19877	-1.0292	10	0.45353	T	0.12	-7.2472	4.3576	0.11187	0.0:0.4598:0.1614:0.3789	.	255	Q7Z7J5	DPPA2_HUMAN	S	255	ENSP00000417710:R255S	ENSP00000417710:R255S	R	-	3	2	DPPA2	110506101	0.000000	0.05858	0.055000	0.19348	0.497000	0.33675	-0.499000	0.06413	-0.131000	0.11578	0.555000	0.69702	AGG		PASS	0.517	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		5	67	5	67	---	---	---	---
ABHD10	55347	broad.mit.edu	37	3	111698038	111698038	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:111698038C>G	ENST00000273359.3	+	1	157	c.130C>G	c.(130-132)Cgg>Ggg	p.R44G	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.R44G	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	44					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.R44G(1)		large_intestine(2)|lung(7)|skin(1)	10						GCGGGCGCCACGGTGGCTCCC	0.662																																						uc003dyk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CGG>GGG		abhydrolase domain containing 10 precursor							25.0	27.0	26.0					3																	111698038		2202	4296	6498	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111698038C>G	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.130C>G	3.37:g.111698038C>G	ENSP00000273359:p.Arg44Gly					ABHD10_uc011bhq.1_5'UTR	p.R44G	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			1	211	+			44					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.130C>G	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863092	0.71949	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.42513	0.97	5.19	1.35	0.21983	.	0.622280	0.15914	N	0.238474	T	0.29491	0.0735	L	0.47716	1.5	0.22918	N	0.998568	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.26408	T	0.33	-26.762	4.4022	0.11392	0.0:0.5615:0.1663:0.2722	.	44	Q9NUJ1	ABHDA_HUMAN	G	44	ENSP00000273359:R44G	ENSP00000273359:R44G	R	+	1	2	ABHD10	113180728	0.018000	0.18449	0.081000	0.20488	0.979000	0.70002	0.047000	0.14056	0.131000	0.18576	0.655000	0.94253	CGG		PASS	0.662	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		14	24	14	24	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122288682	122288682	+	Silent	SNP	C	C	T	rs570726638		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:122288682C>T	ENST00000296161.4	+	3	1935	c.1746C>T	c.(1744-1746)tgC>tgT	p.C582C	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	582					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C582C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ATGAATTCTGCGCCCCTTGTA	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22604	0.0		0.0	False		,,,				2504	0.0					uc003efk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1744-1746)TGC>TGT		deltex 3-like							134.0	136.0	135.0					3																	122288682		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288682C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1746C>T	3.37:g.122288682C>T						DTX3L_uc010hrj.2_Intron	p.C582C	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1835	+			582			RING-type.		B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1746C>T	CCDS3015.1																																																																																				PASS	0.453	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		7	155	7	155	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122645282	122645282	+	Silent	SNP	A	A	G	rs370171745		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:122645282A>G	ENST00000357599.3	-	9	1479	c.1093T>C	c.(1093-1095)Ttg>Ctg	p.L365L	SEMA5B_ENST00000451055.2_Silent_p.L419L|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.L365L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	365	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L419L(1)|p.L365L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCTCCGGCAAGTGGAAGGCA	0.602																																						uc003efz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1093-1095)TTG>CTG		semaphorin 5B isoform 1		A		0,4406		0,0,2203	36.0	34.0	35.0		1093	3.6	1.0	3		35	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		365/1152	122645282	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645282A>G	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1093T>C	3.37:g.122645282A>G						SEMA5B_uc011bju.1_Silent_p.L307L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L365L|SEMA5B_uc010hro.1_Silent_p.L307L|SEMA5B_uc010hrp.1_RNA	p.L365L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1397	-			365			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1093T>C	CCDS35491.1																																																																																				PASS	0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		11	18	11	18	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125651529	125651529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:125651529C>A	ENST00000340333.3	-	3	287	c.124G>T	c.(124-126)Gga>Tga	p.G42*	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	42							transferase activity, transferring glycosyl groups (GO:0016757)	p.G42*(1)		large_intestine(2)|lung(2)	4						AGGTTGTGTCCATCAAGAGTA	0.428																																						uc003eig.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(124-126)GGA>TGA		asparagine-linked glycosylation 1-like							98.0	88.0	92.0					3																	125651529		2203	4300	6503	SO:0001587	stop_gained	200810						transferase activity, transferring glycosyl groups	g.chr3:125651529C>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.124G>T	3.37:g.125651529C>A	ENSP00000340009:p.Gly42*						p.G42*	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN			3	288	-			42					D3DNA5	Nonsense_Mutation	SNP	ENST00000340333.3	37	c.124G>T	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.991770	0.54041	.	.	ENSG00000189366	ENST00000340333	.	.	.	2.11	1.19	0.21007	.	0.049554	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-14.3121	6.3254	0.21240	0.0:0.8213:0.0:0.1787	.	.	.	.	X	42	.	ENSP00000340009:G42X	G	-	1	0	ALG1L	127134219	0.961000	0.32948	0.311000	0.25182	0.109000	0.19521	2.307000	0.43682	1.182000	0.42928	0.162000	0.16502	GGA		PASS	0.428	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	84	5	84	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137483975	137483975	+	Missense_Mutation	SNP	G	G	C	rs201978283		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:137483975G>C	ENST00000306087.1	+	1	397	c.349G>C	c.(349-351)Ggc>Cgc	p.G117R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	117					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G117R(1)		large_intestine(2)|lung(12)	14						GGCCTCCGACGGCCTCCTGAG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13773	0.001		0.0	False		,,,				2504	0.0					uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GGC>CGC		SRY-box 14							35.0	44.0	41.0					3																	137483975		2202	4295	6497	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483975G>C	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.349G>C	3.37:g.137483975G>C	ENSP00000305343:p.Gly117Arg						p.G117R	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	397	+			117					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.349G>C	CCDS3094.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.93	1.786111	0.31593	.	.	ENSG00000168875	ENST00000306087	D	0.96459	-4.02	4.7	3.74	0.42951	.	0.195465	0.44285	D	0.000479	D	0.87176	0.6112	N	0.08118	0	0.30788	N	0.741284	B	0.16603	0.018	B	0.13407	0.009	T	0.78370	-0.2230	10	0.13108	T	0.6	.	5.2449	0.15490	0.1075:0.0:0.5215:0.3709	.	117	O95416	SOX14_HUMAN	R	117	ENSP00000305343:G117R	ENSP00000305343:G117R	G	+	1	0	SOX14	138966665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.486000	0.45259	2.449000	0.82847	0.511000	0.50034	GGC		PASS	0.692	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		15	6	15	6	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140281797	140281797	+	Splice_Site	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:140281797A>C	ENST00000458420.3	+	14	2547	c.2357A>C	c.(2356-2358)gAg>gCg	p.E786A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	786					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E786A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCAACTTGGAGGTGAGTGGG	0.552										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2356-2358)GAG>GCG		calsyntenin 2 precursor							57.0	55.0	56.0					3																	140281797		2203	4300	6503	SO:0001630	splice_region_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281797A>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2358+1A>C	3.37:g.140281797A>C		HNSCC(16;0.037)					p.E786A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			14	2547	+			786			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2357A>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442054	0.83993	.	.	ENSG00000158258	ENST00000458420	T	0.35605	1.3	4.95	4.95	0.65309	.	0.046508	0.85682	D	0.000000	T	0.55513	0.1925	M	0.82323	2.585	0.53688	D	0.999976	D	0.62365	0.991	P	0.55923	0.787	T	0.61608	-0.7028	9	.	.	.	-14.0024	12.8671	0.57946	1.0:0.0:0.0:0.0	.	786	Q9H4D0	CSTN2_HUMAN	A	786	ENSP00000402460:E786A	.	E	+	2	0	CLSTN2	141764487	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.287000	0.95975	1.981000	0.57761	0.533000	0.62120	GAG		PASS	0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	Missense_Mutation	11	28	11	28	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906580	164906580	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:164906580C>A	ENST00000475390.1	-	2	2482	c.2039G>T	c.(2038-2040)cGa>cTa	p.R680L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R680L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	680					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R680L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCGACGCCTTCGGAGCACGTA	0.542										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2038-2040)CGA>CTA		slit and trk like 3 protein precursor							67.0	58.0	61.0					3																	164906580		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906580C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2039G>T	3.37:g.164906580C>A	ENSP00000420091:p.Arg680Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R680L	p.R680L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2483	-			680			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2039G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412193	0.42817	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58506	0.33;0.33	5.0	5.0	0.66597	.	0.000000	0.32671	N	0.005790	T	0.56673	0.2001	L	0.58101	1.795	0.35273	D	0.780604	P	0.48998	0.918	B	0.41299	0.353	T	0.71377	-0.4611	10	0.56958	D	0.05	-9.0705	17.5793	0.87962	0.0:1.0:0.0:0.0	.	680	O94933	SLIK3_HUMAN	L	680	ENSP00000420091:R680L;ENSP00000241274:R680L	ENSP00000241274:R680L	R	-	2	0	SLITRK3	166389274	0.807000	0.29009	0.204000	0.23530	0.456000	0.32438	3.395000	0.52558	2.745000	0.94114	0.655000	0.94253	CGA		PASS	0.542	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	36	48	36	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167758633	167758633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:167758633C>A	ENST00000470487.1	-	7	1314	c.625G>T	c.(625-627)Gag>Tag	p.E209*	GOLIM4_ENST00000309027.4_Intron	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	209	Golgi targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E209*(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTCATGCTCGGAGAGTAAA	0.413																																						uc003ffe.2																			1	Substitution - Nonsense(1)		lung(1)	breast(4)|skin(1)	5						c.(625-627)GAG>TAG		golgi integral membrane protein 4							130.0	121.0	124.0					3																	167758633		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167758633C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.625G>T	3.37:g.167758633C>A	ENSP00000417354:p.Glu209*					GOLIM4_uc011bpe.1_Nonsense_Mutation_p.E209*|GOLIM4_uc011bpf.1_Intron|GOLIM4_uc011bpg.1_Intron	p.E209*	NM_014498	NP_055313	O00461	GOLI4_HUMAN			7	969	-			209			Potential.|Golgi targeting.|Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.625G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	42	9.781880	0.99263	.	.	ENSG00000173905	ENST00000470487	.	.	.	5.51	5.51	0.81932	.	0.303544	0.34628	N	0.003815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.7322	15.3248	0.74150	0.0:0.8203:0.1797:0.0	.	.	.	.	X	209	.	ENSP00000417354:E209X	E	-	1	0	GOLIM4	169241327	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.867000	0.48428	2.611000	0.88343	0.551000	0.68910	GAG		PASS	0.413	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	106	4	106	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169644749	169644749	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:169644749C>G	ENST00000428432.2	+	6	1088	c.699C>G	c.(697-699)agC>agG	p.S233R	SAMD7_ENST00000335556.3_Missense_Mutation_p.S233R	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	233								p.S233R(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAGCACCCAGCAACCAGAAGT	0.483																																						uc003fgd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(697-699)AGC>AGG		sterile alpha motif domain containing 7							111.0	109.0	110.0					3																	169644749		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644749C>G	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.699C>G	3.37:g.169644749C>G	ENSP00000391299:p.Ser233Arg					SAMD7_uc003fge.2_Missense_Mutation_p.S233R|SAMD7_uc011bpo.1_Missense_Mutation_p.S134R	p.S233R	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	966	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		233						Missense_Mutation	SNP	ENST00000428432.2	37	c.699C>G	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	9.204	1.029202	0.19512	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.45276	0.9;0.9	6.16	-0.536	0.11876	.	0.950561	0.08950	N	0.870289	T	0.25306	0.0615	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.17979	0.02	T	0.21518	-1.0243	10	0.32370	T	0.25	1.7669	8.1566	0.31173	0.1002:0.5901:0.0:0.3098	.	233	Q7Z3H4	SAMD7_HUMAN	R	233	ENSP00000391299:S233R;ENSP00000334668:S233R	ENSP00000334668:S233R	S	+	3	2	SAMD7	171127443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.390000	0.20768	-0.037000	0.13646	-0.175000	0.13238	AGC		PASS	0.483	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		75	86	75	86	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	170002300	170002300	+	Silent	SNP	G	G	A	rs146346249		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:170002300G>A	ENST00000295797.4	+	12	1424	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G364G(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	ATGAGCGAGGGATAATTTATA	0.318																																						uc003fgs.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1117-1119)GGG>GGA		protein kinase C, iota							60.0	61.0	61.0					3																	170002300		2203	4299	6502	SO:0001819	synonymous_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002300G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1119G>A	3.37:g.170002300G>A							p.G373G	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1357	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		373			Protein kinase.		D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	c.1119G>A	CCDS3212.2																																																																																				PASS	0.318	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		20	41	20	41	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		26	Substitution - Missense(26)	p.G118D(6)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(352-354)GGT>GAT		phosphoinositide-3-kinase, catalytic, alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118D	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.353G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		PASS	0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	9	21	9	21	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179287884	179287884	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:179287884G>T	ENST00000429709.2	+	3	345	c.132G>T	c.(130-132)gtG>gtT	p.V44V	ACTL6A_ENST00000392662.1_Silent_p.V2V|ACTL6A_ENST00000450518.2_Silent_p.V2V	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	44					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.V44V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TTGGTATGGTGGTAGAAAGAG	0.408																																						uc003fjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(130-132)GTG>GTT		actin-like 6A isoform 1							162.0	149.0	153.0					3																	179287884		2203	4300	6503	SO:0001819	synonymous_variant	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287884G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.132G>T	3.37:g.179287884G>T						ACTL6A_uc003fjx.2_Silent_p.V2V|ACTL6A_uc003fjy.2_Silent_p.V2V	p.V44V	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		3	305	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		44					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Silent	SNP	ENST00000429709.2	37	c.132G>T	CCDS3231.1																																																																																				PASS	0.408	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		5	94	5	94	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515841	195515841	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:195515841G>A	ENST00000463781.3	-	2	3069	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.G870G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	875	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G870G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGAAAGGTGCCGGGGACGA	0.592																																						uc011bto.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2608-2610)GGC>GGT		mucin 4 isoform a							60.0	64.0	63.0					3																	195515841		2090	4190	6280	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515841G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2610C>T	3.37:g.195515841G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.G752G	p.G870G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3070	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	875			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2610C>T	CCDS54700.1																																																																																				PASS	0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		9	18	9	18	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196199439	196199439	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:196199439T>C	ENST00000318037.3	-	6	1561	c.967A>G	c.(967-969)Aaa>Gaa	p.K323E	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	323					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K323E(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CATAACTCTTTCCCATGATTG	0.468																																						uc003fwq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)AAA>GAA		ring finger protein 168							202.0	193.0	196.0					3																	196199439		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199439T>C	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.967A>G	3.37:g.196199439T>C	ENSP00000320898:p.Lys323Glu					RNF168_uc010iah.2_Missense_Mutation_p.K156E|uc010iag.1_5'Flank	p.K323E	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1505	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		323					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.967A>G	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	5.187	0.220004	0.09863	.	.	ENSG00000163961	ENST00000318037	T	0.05649	3.41	6.08	-2.46	0.06461	.	0.662663	0.14533	N	0.313752	T	0.02807	0.0084	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47045	-0.9147	10	0.02654	T	1	-4.8431	5.6937	0.17843	0.0:0.3658:0.2721:0.3621	.	323	Q8IYW5	RN168_HUMAN	E	323	ENSP00000320898:K323E	ENSP00000320898:K323E	K	-	1	0	RNF168	197683836	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	-0.322000	0.08007	-0.039000	0.13602	0.482000	0.46254	AAA		PASS	0.468	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		9	59	9	59	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17826672	17826672	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:17826672G>A	ENST00000251496.2	+	10	1641	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	489					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E489K(1)|p.E489*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAGAAAGAAAGAACTCAAGGT	0.388																																						uc003gpp.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	large_intestine(1)	1						c.(1465-1467)GAA>AAA		chromosome condensation protein G							62.0	63.0	63.0					4																	17826672		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17826672G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1465G>A	4.37:g.17826672G>A	ENSP00000251496:p.Glu489Lys					NCAPG_uc011bxj.1_5'UTR	p.E489K	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	10	1641	+			489					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1465G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119327	0.56505	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.42900	1.55;0.96	5.72	4.82	0.62117	Armadillo-type fold (1);	0.049160	0.85682	D	0.000000	T	0.33206	0.0855	L	0.52364	1.645	0.31260	N	0.692968	B	0.27910	0.193	B	0.21708	0.036	T	0.30851	-0.9964	10	0.36615	T	0.2	-24.2124	8.0964	0.30831	0.0873:0.3846:0.5281:0.0	.	489	Q9BPX3	CND3_HUMAN	K	489;52	ENSP00000251496:E489K;ENSP00000425625:E52K	ENSP00000251496:E489K	E	+	1	0	NCAPG	17435770	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	2.024000	0.41049	2.715000	0.92844	0.585000	0.79938	GAA		PASS	0.388	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		4	9	4	9	---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24578074	24578074	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:24578074G>C	ENST00000336812.4	-	2	455	c.299C>G	c.(298-300)tCa>tGa	p.S100*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	100					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.S100*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGCATGCGTTGAATGAGCAGA	0.453																																						uc003gqx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(298-300)TCA>TGA		DEAH (Asp-Glu-Ala-His) box polypeptide 15							326.0	305.0	312.0					4																	24578074		2203	4300	6503	SO:0001587	stop_gained	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578074G>C	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.299C>G	4.37:g.24578074G>C	ENSP00000336741:p.Ser100*						p.S100*	NM_001358	NP_001349	O43143	DHX15_HUMAN			2	467	-		Breast(46;0.0503)	100					Q9NQT7	Nonsense_Mutation	SNP	ENST00000336812.4	37	c.299C>G	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674660	0.67928	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.33	5.33	0.75918	.	0.000000	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-12.892	14.9033	0.70696	0.0:0.0:1.0:0.0	.	.	.	.	X	100;89	.	ENSP00000336741:S100X	S	-	2	0	DHX15	24187172	0.996000	0.38824	0.986000	0.45419	0.587000	0.36485	2.987000	0.49378	2.652000	0.90054	0.655000	0.94253	TCA		PASS	0.453	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		35	73	35	73	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25677904	25677904	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:25677904T>A	ENST00000382051.3	+	13	1656	c.1606T>A	c.(1606-1608)Ttc>Atc	p.F536I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.F535I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.F535I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	536					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.F536I(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCTGATCATCTTCTTCTTCCT	0.607			T	ROS1	NSCLC																																	uc003grr.2				Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1606-1608)TTC>ATC		solute carrier family 34 (sodium phosphate),							184.0	167.0	173.0					4																	25677904		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677904T>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1606T>A	4.37:g.25677904T>A	ENSP00000371483:p.Phe536Ile					SLC34A2_uc003grs.2_Missense_Mutation_p.F535I|SLC34A2_uc010iev.2_Missense_Mutation_p.F535I	p.F536I	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1687	+		Breast(46;0.0503)	536			Helical; Name=M7; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1606T>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939586	0.52972	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.22945	1.93;1.93;1.93	5.18	-0.452	0.12205	.	0.231749	0.53938	D	0.000058	T	0.19846	0.0477	L	0.60455	1.87	0.36690	D	0.879559	B;B	0.28082	0.2;0.044	B;B	0.26770	0.073;0.027	T	0.07046	-1.0793	10	0.33141	T	0.24	-12.0534	6.3703	0.21477	0.0:0.1301:0.246:0.6239	.	535;536	O95436-2;O95436	.;NPT2B_HUMAN	I	535;536;535	ENSP00000425501:F535I;ENSP00000371483:F536I;ENSP00000423021:F535I	ENSP00000371483:F536I	F	+	1	0	SLC34A2	25287002	0.983000	0.35010	0.443000	0.26883	0.961000	0.63080	0.457000	0.21875	-0.196000	0.10366	0.459000	0.35465	TTC		PASS	0.607	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		52	85	52	85	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39511414	39511414	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:39511414C>A	ENST00000316423.6	-	6	1119	c.777G>T	c.(775-777)caG>caT	p.Q259H	UGDH_ENST00000506179.1_Missense_Mutation_p.Q259H|UGDH_ENST00000507089.1_Missense_Mutation_p.Q162H|UGDH_ENST00000501493.2_Missense_Mutation_p.Q192H|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	259					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.Q259H(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTCCAATTCTCTGGTCCATTC	0.388																																						uc003guk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(775-777)CAG>CAT		UDP-glucose dehydrogenase	NADH(DB00157)						146.0	143.0	144.0					4																	39511414		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39511414C>A	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.777G>T	4.37:g.39511414C>A	ENSP00000319501:p.Gln259His					UGDH_uc011byp.1_Missense_Mutation_p.Q162H|UGDH_uc003gul.1_Missense_Mutation_p.Q192H	p.Q259H	NM_003359	NP_003350	O60701	UGDH_HUMAN			6	1093	-			259					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.777G>T	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620615	0.46736	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;T;D;D	0.82711	-1.64;-1.06;-1.64;-1.64	5.51	4.66	0.58398	UDP-glucose/GDP-mannose dehydrogenase, dimerisation (1);NAD(P)-binding domain (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	N	0.02011	-0.69	0.58432	D	0.999994	B;B	0.13145	0.007;0.001	B;B	0.16722	0.016;0.002	T	0.60551	-0.7241	10	0.66056	D	0.02	-0.1309	9.422	0.38557	0.0:0.8172:0.0:0.1828	.	192;259	B3KUU2;O60701	.;UGDH_HUMAN	H	259;192;259;162	ENSP00000319501:Q259H;ENSP00000422909:Q192H;ENSP00000421757:Q259H;ENSP00000426560:Q162H	ENSP00000319501:Q259H	Q	-	3	2	UGDH	39187809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.684000	0.46951	1.429000	0.47314	0.650000	0.86243	CAG		PASS	0.388	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		19	25	19	25	---	---	---	---
YIPF7	285525	broad.mit.edu	37	4	44631420	44631420	+	Splice_Site	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:44631420C>G	ENST00000332990.5	-	4	514	c.498G>C	c.(496-498)ctG>ctC	p.L166L	YIPF7_ENST00000415895.4_Splice_Site_p.L142L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	166						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L166L(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GACACATTACCAGAAGCAAGG	0.438																																						uc010ifx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(496-498)CTG>CTC		Yip1 domain family, member 7							64.0	70.0	68.0					4																	44631420		1903	4114	6017	SO:0001630	splice_region_variant	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44631420C>G	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.498+1G>C	4.37:g.44631420C>G						YIPF7_uc010ify.1_3'UTR	p.L166L	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN			4	515	-			166			Helical; (Potential).		Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	37	c.498G>C	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971564	0.34754	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	T	0.74382	0.3709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72484	-0.4279	4	.	.	.	-5.5962	18.1313	0.89602	0.0:1.0:0.0:0.0	.	.	.	.	R	143	.	.	G	-	1	0	YIPF7	44326177	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.798000	0.69095	2.747000	0.94245	0.585000	0.79938	GGC		PASS	0.438	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592	Silent	5	9	5	9	---	---	---	---
COX7B2	170712	broad.mit.edu	37	4	46736995	46736995	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:46736995C>A	ENST00000396533.1	-	4	465	c.215G>T	c.(214-216)aGa>aTa	p.R72I	COX7B2_ENST00000543208.1_Missense_Mutation_p.R71I|COX7B2_ENST00000355591.3_Missense_Mutation_p.R72I|COX7B2_ENST00000302930.5_Missense_Mutation_p.R72I			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	72						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.R71I(1)		large_intestine(1)|lung(4)	5						TGGGGTAACTCTGCCAACAGG	0.428																																						uc003gxf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)AGA>ATA		cytochrome c oxidase subunit VIIb2 precursor							112.0	100.0	104.0					4																	46736995		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46736995C>A	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.215G>T	4.37:g.46736995C>A	ENSP00000379784:p.Arg72Ile					COX7B2_uc010ige.2_RNA	p.R72I	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	395	-			72			Mitochondrial intermembrane (By similarity).		Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.215G>T	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137136	0.77775	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.57	4.57	0.56435	Cytochrome C oxidase, subunit VIIB, domain (2);	0.057494	0.64402	D	0.000001	T	0.71476	0.3344	.	.	.	0.47659	D	0.999488	D	0.89917	1.0	D	0.91635	0.999	T	0.74340	-0.3697	9	0.87932	D	0	-8.9049	13.1628	0.59554	0.0:1.0:0.0:0.0	.	72	Q8TF08	CX7B2_HUMAN	I	72;72;72;71	ENSP00000347799:R72I;ENSP00000379784:R72I;ENSP00000305964:R72I;ENSP00000437439:R71I	ENSP00000305964:R72I	R	-	2	0	COX7B2	46431752	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.933000	0.28897	2.830000	0.97506	0.585000	0.79938	AGA		PASS	0.428	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		16	27	16	27	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47548682	47548682	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:47548682G>C	ENST00000273859.3	+	10	1707	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	ATP10D_ENST00000504445.1_Missense_Mutation_p.E465Q	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	480					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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.E480Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCTGAAGATGAAGATTTTAT	0.468																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1438-1440)GAA>CAA		ATPase, class V, type 10D							112.0	113.0	113.0					4																	47548682		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47548682G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1438G>C	4.37:g.47548682G>C	ENSP00000273859:p.Glu480Gln					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E465Q	p.E480Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			10	1602	+			480			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1438G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.805052	0.90623	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.85013	-1.93;-1.93	4.78	4.78	0.61160	HAD-like domain (1);	0.217391	0.31601	N	0.007377	D	0.86506	0.5949	M	0.79475	2.455	0.33249	D	0.558251	P;B	0.34662	0.462;0.275	B;B	0.37731	0.257;0.08	D	0.89829	0.3994	10	0.37606	T	0.19	-4.6253	16.9659	0.86285	0.0:0.0:1.0:0.0	.	480;465	Q9P241;Q6PEW3	AT10D_HUMAN;.	Q	480;465	ENSP00000273859:E480Q;ENSP00000420909:E465Q	ENSP00000273859:E480Q	E	+	1	0	ATP10D	47243439	1.000000	0.71417	0.979000	0.43373	0.929000	0.56500	6.454000	0.73493	2.499000	0.84300	0.491000	0.48974	GAA		PASS	0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		5	83	5	83	---	---	---	---
EREG	2069	broad.mit.edu	37	4	75246733	75246733	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:75246733C>G	ENST00000244869.2	+	3	323	c.157C>G	c.(157-159)Cag>Gag	p.Q53E		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	53					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)	p.Q53E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TTTTACAGTTCAGACAGAAGA	0.398																																						uc003hie.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(157-159)CAG>GAG		epiregulin preproprotein							161.0	140.0	147.0					4																	75246733		2203	4300	6503	SO:0001583	missense	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75246733C>G	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.157C>G	4.37:g.75246733C>G	ENSP00000244869:p.Gln53Glu					EREG_uc003hid.2_Missense_Mutation_p.Q47E	p.Q53E	NM_001432	NP_001423	O14944	EREG_HUMAN	Lung(101;0.196)		3	323	+			53					B2RC66|Q6FH69	Missense_Mutation	SNP	ENST00000244869.2	37	c.157C>G	CCDS3564.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887934	0.33348	.	.	ENSG00000124882	ENST00000244869	T	0.26223	1.75	5.4	4.55	0.56014	.	0.291339	0.32836	N	0.005581	T	0.24160	0.0585	M	0.65498	2.005	0.36405	D	0.863346	P	0.38078	0.617	B	0.31101	0.124	T	0.27191	-1.0081	10	0.30854	T	0.27	-13.3478	11.7714	0.51960	0.1761:0.8239:0.0:0.0	.	53	O14944	EREG_HUMAN	E	53	ENSP00000244869:Q53E	ENSP00000244869:Q53E	Q	+	1	0	EREG	75465597	0.998000	0.40836	0.999000	0.59377	0.752000	0.42762	2.014000	0.40951	1.377000	0.46286	0.591000	0.81541	CAG		PASS	0.398	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			17	55	17	55	---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76852392	76852392	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:76852392C>T	ENST00000286733.4	-	4	665	c.564G>A	c.(562-564)aaG>aaA	p.K188K	NAAA_ENST00000399497.3_Silent_p.K188K|NAAA_ENST00000507956.1_Silent_p.K188K|NAAA_ENST00000505594.1_Silent_p.K87K	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	188					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.K188K(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAACTGTAAACTTGTGTGGGC	0.393																																						uc003hjb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(562-564)AAG>AAA		N-acylethanolamine acid amidase isoform 1							127.0	123.0	124.0					4																	76852392		1870	4111	5981	SO:0001819	synonymous_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76852392C>T	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.564G>A	4.37:g.76852392C>T						NAAA_uc003hja.2_Silent_p.K188K|NAAA_uc003hjc.3_Silent_p.K188K|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.K87K	p.K188K	NM_014435	NP_055250	Q02083	NAAA_HUMAN			4	628	-			188					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.564G>A	CCDS43239.1																																																																																				PASS	0.393	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			10	22	10	22	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122301679	122301679	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:122301679C>A	ENST00000394427.2	-	1	535	c.124G>T	c.(124-126)Gga>Tga	p.G42*	QRFPR_ENST00000334383.5_Nonsense_Mutation_p.G42*	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	42					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.G42*(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTGGCGCGTCCCGGCAGCTCT	0.657																																						uc010inj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(124-126)GGA>TGA		G protein-coupled receptor 103							33.0	33.0	33.0					4																	122301679		2203	4300	6503	SO:0001587	stop_gained	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301679C>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.124G>T	4.37:g.122301679C>A	ENSP00000377948:p.Gly42*					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Nonsense_Mutation_p.G42*|QRFPR_uc010inl.1_Nonsense_Mutation_p.G42*	p.G42*	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			1	503	-			42			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000394427.2	37	c.124G>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087707	0.76642	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	.	.	.	4.91	0.824	0.18818	.	1.443540	0.04139	N	0.319192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	13.4668	0.61258	0.1139:0.3792:0.5069:0.0	.	.	.	.	X	42	.	ENSP00000335610:G42X	G	-	1	0	QRFPR	122521129	0.000000	0.05858	0.015000	0.15790	0.100000	0.18952	0.111000	0.15458	-0.124000	0.11724	-1.279000	0.01387	GGA		PASS	0.657	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		7	3	7	3	---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122825537	122825537	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:122825537C>A	ENST00000379645.3	-	8	2266	c.2193G>T	c.(2191-2193)atG>atT	p.M731I	TRPC3_ENST00000513531.1_Missense_Mutation_p.M603I|TRPC3_ENST00000264811.5_Missense_Mutation_p.M658I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	646					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	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.M658I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAACGACCACCATAGTTACAT	0.328																																						uc003ieg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2191-2193)ATG>ATT		transient receptor potential cation channel,							100.0	95.0	97.0					4																	122825537		2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122825537C>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2193G>T	4.37:g.122825537C>A	ENSP00000368966:p.Met731Ile					TRPC3_uc010inr.2_Missense_Mutation_p.M603I|TRPC3_uc003ief.2_Missense_Mutation_p.M658I|TRPC3_uc011cgl.1_Missense_Mutation_p.M395I	p.M731I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			8	2267	-			646			Helical; (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2193G>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755100	0.89843	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98400	-4.91;-4.91;-4.91	5.52	5.52	0.82312	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	L	0.58510	1.815	0.80722	D	1	B;B;P	0.43701	0.389;0.11;0.815	B;B;P	0.49683	0.285;0.098;0.619	D	0.97121	0.9811	10	0.19590	T	0.45	-21.0963	19.7889	0.96450	0.0:1.0:0.0:0.0	.	646;603;731	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	I	658;731;603	ENSP00000264811:M658I;ENSP00000368966:M731I;ENSP00000426899:M603I	ENSP00000264811:M658I	M	-	3	0	TRPC3	123044987	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.684000	0.84104	2.734000	0.93682	0.655000	0.94253	ATG		PASS	0.328	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		8	15	8	15	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141592006	141592006	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:141592006C>T	ENST00000442267.2	-	7	1208	c.1134G>A	c.(1132-1134)atG>atA	p.M378I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	378							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.M378I(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATAGGAAGGTCATCCTGTTTC	0.448																																						uc010ioj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1132-1134)ATG>ATA		TBC1 domain family, member 9 (with GRAM domain)							166.0	168.0	167.0					4																	141592006		1934	4153	6087	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141592006C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1134G>A	4.37:g.141592006C>T	ENSP00000411197:p.Met378Ile						p.M378I	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			7	1406	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	378					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1134G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704195	0.68615	.	.	ENSG00000109436	ENST00000442267	T	0.08807	3.05	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	M	0.81341	2.54	0.80722	D	1	B	0.29301	0.241	B	0.41571	0.36	T	0.02126	-1.1209	10	0.31617	T	0.26	-13.3865	19.6695	0.95905	0.0:1.0:0.0:0.0	.	378	Q6ZT07	TBCD9_HUMAN	I	378	ENSP00000411197:M378I	ENSP00000411197:M378I	M	-	3	0	TBC1D9	141811456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.934000	0.70138	2.701000	0.92244	0.650000	0.86243	ATG		PASS	0.448	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		10	88	10	88	---	---	---	---
TMEM144	55314	broad.mit.edu	37	4	159136383	159136383	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:159136383G>T	ENST00000296529.6	+	4	670	c.150G>T	c.(148-150)ttG>ttT	p.L50F	TMEM144_ENST00000514558.1_Missense_Mutation_p.L50F	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	50						integral component of membrane (GO:0016021)		p.L50F(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CCATATGGTTGGTTGCCTTGG	0.398																																						uc003ipx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)TTG>TTT		transmembrane protein 144							245.0	219.0	227.0					4																	159136383		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159136383G>T	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.150G>T	4.37:g.159136383G>T	ENSP00000296529:p.Leu50Phe					TMEM144_uc010iqi.2_RNA	p.L50F	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	670	+	all_hematologic(180;0.24)	Renal(120;0.0854)	50			Helical; (Potential).		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.150G>T	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370186	0.24771	.	.	ENSG00000164124	ENST00000505049;ENST00000505189;ENST00000508243;ENST00000296529;ENST00000512481;ENST00000504569;ENST00000514558;ENST00000503200;ENST00000502698;ENST00000514971	T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.84	1.62	0.23740	.	0.358897	0.24884	N	0.034839	T	0.30603	0.0770	L	0.35854	1.095	0.27858	N	0.940492	B	0.06786	0.001	B	0.06405	0.002	T	0.05146	-1.0903	10	0.13853	T	0.58	-2.9086	0.4955	0.00571	0.2201:0.1559:0.3092:0.3148	.	50	Q7Z5S9	TM144_HUMAN	F	50	ENSP00000425266:L50F;ENSP00000421289:L50F;ENSP00000422297:L50F;ENSP00000296529:L50F;ENSP00000424659:L50F;ENSP00000422082:L50F;ENSP00000426211:L50F;ENSP00000420990:L50F;ENSP00000425907:L50F;ENSP00000422899:L50F	ENSP00000296529:L50F	L	+	3	2	TMEM144	159355833	0.873000	0.30073	0.960000	0.40013	0.937000	0.57800	0.283000	0.18846	0.772000	0.33382	-0.207000	0.12724	TTG		PASS	0.398	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		5	61	5	61	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187159519	187159519	+	Splice_Site	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr4:187159519G>T	ENST00000264690.6	+	6	785	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	KLKB1_ENST00000513864.1_Splice_Site_p.G200C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	200					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G200C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTCAGAAATTGGTAATTGTAG	0.507																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(598-600)GGT>TGT		plasma kallikrein B1 precursor							91.0	83.0	86.0					4																	187159519		2203	4300	6503	SO:0001630	splice_region_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187159519G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.598+1G>T	4.37:g.187159519G>T						KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.G162C	p.G200C	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	6	669	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	200					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.598G>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.196405|4.196405	0.78902|0.78902	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.88896|.	-2.44;-2.39|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.085770|.	0.49305|.	D|.	0.000152|.	T|T	0.73931|0.73931	0.3650|0.3650	M|M	0.72118|0.72118	2.19|2.19	0.43564|0.43564	D|D	0.995886|0.995886	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.73911|0.73911	-0.3833|-0.3833	10|5	0.87932|.	D|.	0|.	.|.	16.1661|16.1661	0.81757|0.81757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;200|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	C|F	200;200;162|247	ENSP00000264690:G200C;ENSP00000424469:G200C|.	ENSP00000264690:G200C|.	G|L	+|+	1|3	0|2	KLKB1|KLKB1	187396513|187396513	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.935000|0.935000	0.57460|0.57460	5.614000|5.614000	0.67695|0.67695	2.576000|2.576000	0.86940|0.86940	0.650000|0.650000	0.86243|0.86243	GGT|TTG		PASS	0.507	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	Missense_Mutation	19	22	19	22	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	485314	485314	+	Silent	SNP	C	C	G	rs376008061		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:485314C>G	ENST00000264938.3	-	4	717	c.708G>C	c.(706-708)gcG>gcC	p.A236A	SLC9A3_ENST00000514375.1_Silent_p.A236A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	236					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.A236A(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACCTCCCAGCGCCACGAAAG	0.632																																						uc003jbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)GCG>GCC		solute carrier family 9 (sodium/hydrogen							180.0	146.0	157.0					5																	485314		2201	4300	6501	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:485314C>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.708G>C	5.37:g.485314C>G						SLC9A3_uc011clx.1_Silent_p.A236A	p.A236A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	820	-			236			Extracellular (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.708G>C	CCDS3855.1																																																																																				PASS	0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		95	39	95	39	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9202306	9202306	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:9202306G>C	ENST00000382496.5	-	9	1358	c.693C>G	c.(691-693)ttC>ttG	p.F231L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	231	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.F231L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCGGAAAAAGAAGTAGGTAA	0.433																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(691-693)TTC>TTG		semaphorin 5A precursor							74.0	74.0	74.0					5																	9202306		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202306G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.693C>G	5.37:g.9202306G>C	ENSP00000371936:p.Phe231Leu						p.F231L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1405	-			231			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.693C>G	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.865529|4.865529	0.91511|0.91511	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.28255|.	1.62;1.62|.	5.51|5.51	5.51|5.51	0.81932|0.81932	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78767|0.78767	0.4335|0.4335	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	P|.	0.36599|.	0.56|.	B|.	0.37943|.	0.261|.	T|T	0.80058|0.80058	-0.1541|-0.1541	10|5	0.62326|.	D|.	0.03|.	.|.	16.9149|16.9149	0.86149|0.86149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231|.	Q13591|.	SEM5A_HUMAN|.	L|V	231|179	ENSP00000371936:F231L;ENSP00000421961:F231L|.	ENSP00000371936:F231L|.	F|L	-|-	3|1	2|0	SEMA5A|SEMA5A	9255306|9255306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.478000|2.478000	0.45189|0.45189	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	TTC|CTT		PASS	0.433	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			18	105	18	105	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13714594	13714594	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:13714594C>A	ENST00000265104.4	-	75	13149	c.13045G>T	c.(13045-13047)Gat>Tat	p.D4349Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4349					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.D4349Y(1)		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)					CGGGTCTCATCCCCTCCACCA	0.587									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13045-13047)GAT>TAT		dynein, axonemal, heavy chain 5							89.0	83.0	85.0					5																	13714594		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.chr5:13714594C>A	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.13045G>T	5.37:g.13714594C>A	ENSP00000265104:p.Asp4349Tyr					DNAH5_uc003jfc.2_Missense_Mutation_p.D517Y	p.D4349Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			75	13087	-	Lung NSC(4;0.00476)		4349					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13045G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157371	0.57259	.	.	ENSG00000039139	ENST00000265104	T	0.08984	3.03	5.22	4.35	0.52113	Dynein heavy chain (1);	0.165305	0.51477	D	0.000096	T	0.12518	0.0304	L	0.39898	1.24	0.43095	D	0.994776	B	0.27117	0.168	B	0.39027	0.288	T	0.07751	-1.0756	10	0.87932	D	0	.	13.7882	0.63123	0.0:0.926:0.0:0.074	.	4349	Q8TE73	DYH5_HUMAN	Y	4349	ENSP00000265104:D4349Y	ENSP00000265104:D4349Y	D	-	1	0	DNAH5	13767594	1.000000	0.71417	0.875000	0.34327	0.248000	0.25809	6.073000	0.71245	1.212000	0.43366	-0.140000	0.14226	GAT		PASS	0.587	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	123	11	123	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19591282	19591282	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:19591282C>G	ENST00000507958.1	-	9	1873	c.883G>C	c.(883-885)Gct>Cct	p.A295P	CDH18_ENST00000274170.4_Missense_Mutation_p.A295P|CDH18_ENST00000502796.1_Missense_Mutation_p.A295P|CDH18_ENST00000511273.1_Missense_Mutation_p.A295P|CDH18_ENST00000506372.1_Missense_Mutation_p.A295P|CDH18_ENST00000382275.1_Missense_Mutation_p.A295P			Q13634	CAD18_HUMAN	cadherin 18, type 2	295	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A295P(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAGTGTCAGCATCATTTGCC	0.403																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(883-885)GCT>CCT		cadherin 18, type 2 preproprotein							159.0	135.0	143.0					5																	19591282		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19591282C>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.883G>C	5.37:g.19591282C>G	ENSP00000425093:p.Ala295Pro					CDH18_uc003jgd.2_Missense_Mutation_p.A295P|CDH18_uc011cnm.1_Missense_Mutation_p.A295P	p.A295P	NM_004934	NP_004925	Q13634	CAD18_HUMAN			6	1260	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		295			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.883G>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	8.928	0.962748	0.18583	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.172815	0.50627	D	0.000102	T	0.38957	0.1060	L	0.31804	0.96	0.58432	D	0.999995	B;B	0.17038	0.002;0.02	B;B	0.23852	0.009;0.049	T	0.15065	-1.0450	9	.	.	.	.	17.3872	0.87420	0.0:1.0:0.0:0.0	.	295;295	B4DHG6;Q13634	.;CAD18_HUMAN	P	295;295;295;295;295;295;241;295	ENSP00000371710:A295P;ENSP00000425093:A295P;ENSP00000274170:A295P;ENSP00000424931:A295P;ENSP00000422138:A295P;ENSP00000427383:A241P;ENSP00000425854:A295P	.	A	-	1	0	CDH18	19627039	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.304000	0.78882	2.428000	0.82296	0.650000	0.86243	GCT		PASS	0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		18	37	18	37	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38919038	38919038	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:38919038C>G	ENST00000274276.3	+	11	1861	c.1459C>G	c.(1459-1461)Cca>Gca	p.P487A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	487	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.P487A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCATTCCATTCCAGCACCAGC	0.438																																						uc003jln.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1459-1461)CCA>GCA		oncostatin M receptor precursor							129.0	121.0	124.0					5																	38919038		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38919038C>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1459C>G	5.37:g.38919038C>G	ENSP00000274276:p.Pro487Ala					OSMR_uc011cpj.1_5'UTR	p.P487A	NM_003999	NP_003990	Q99650	OSMR_HUMAN			11	1826	+	all_lung(31;0.000365)		487			Fibronectin type-III 2.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1459C>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868568	0.17322	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.52754	0.65;0.65	4.57	1.5	0.22942	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.029030	0.07649	N	0.931682	T	0.39733	0.1089	M	0.72894	2.215	0.09310	N	1	P	0.48764	0.915	B	0.39339	0.297	T	0.27971	-1.0058	10	0.07990	T	0.79	.	5.895	0.18935	0.0:0.6534:0.0:0.3466	.	487	Q99650	OSMR_HUMAN	A	487;94	ENSP00000274276:P487A;ENSP00000423913:P94A	ENSP00000274276:P487A	P	+	1	0	OSMR	38954795	0.010000	0.17322	0.002000	0.10522	0.017000	0.09413	1.544000	0.36158	0.516000	0.28340	0.655000	0.94253	CCA		PASS	0.438	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		19	135	19	135	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382017	41382017	+	Silent	SNP	C	C	T	rs375308462		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:41382017C>T	ENST00000377801.3	-	2	797	c.723G>A	c.(721-723)tcG>tcA	p.S241S	PLCXD3_ENST00000328457.3_Silent_p.S241S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	241					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.S241S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATATAAAAAACGATCCCTTCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		16622	0.0		0.0	False		,,,				2504	0.001					uc003jmm.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(721-723)TCG>TCA		phosphatidylinositol-specific phospholipase C, X		C		0,4406		0,0,2203	80.0	85.0	83.0		723	-2.3	1.0	5		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLCXD3	NM_001005473.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		241/322	41382017	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382017C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.723G>A	5.37:g.41382017C>T							p.S241S	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	825	-			241					A6NL04	Silent	SNP	ENST00000377801.3	37	c.723G>A	CCDS34150.1																																																																																				PASS	0.502	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		19	112	19	112	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74101044	74101044	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:74101044C>G	ENST00000389156.4	-	7	826	c.736G>C	c.(736-738)Gga>Cga	p.G246R	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.G186R	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	246						membrane (GO:0016020)|nucleus (GO:0005634)		p.G246R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TACCAGTGTCCAACACCTTCA	0.383																																						uc003kdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GGA>CGA		hypothetical protein LOC26049							113.0	110.0	111.0					5																	74101044		1872	4086	5958	SO:0001583	missense	26049							g.chr5:74101044C>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.736G>C	5.37:g.74101044C>G	ENSP00000373808:p.Gly246Arg					FAM169A_uc010izm.2_Missense_Mutation_p.G186R|FAM169A_uc003kdl.2_Missense_Mutation_p.G64R	p.G246R	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			7	779	-			246					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.736G>C	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435557	0.83885	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	D	0.81821	-1.54	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000039	D	0.90120	0.6913	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91249	0.5028	10	0.87932	D	0	-26.7603	18.8315	0.92141	0.0:1.0:0.0:0.0	.	186;246	D6RB01;Q9Y6X4	.;F169A_HUMAN	R	246;186	ENSP00000373808:G246R	ENSP00000373808:G246R	G	-	1	0	FAM169A	74136800	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.498000	0.66931	2.437000	0.82529	0.585000	0.79938	GGA		PASS	0.383	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			16	8	16	8	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187749	121187749	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:121187749C>T	ENST00000321339.1	+	1	100	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	31					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.R31C(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)		GCTCCCGCTGCGTTGGGCCCC	0.766																																						uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)CGT>TGT		ferritin mitochondrial precursor							10.0	12.0	11.0					5																	121187749		2183	4263	6446	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.chr5:121187749C>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.91C>T	5.37:g.121187749C>T	ENSP00000313691:p.Arg31Cys						p.R31C	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	100	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	31						Missense_Mutation	SNP	ENST00000321339.1	37	c.91C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	8.708	0.911301	0.17833	.	.	ENSG00000181867	ENST00000321339	T	0.64991	-0.13	3.06	1.23	0.21249	.	.	.	.	.	T	0.36799	0.0980	N	0.08118	0	0.09310	N	0.999999	B	0.15473	0.013	B	0.06405	0.002	T	0.20405	-1.0276	9	0.44086	T	0.13	.	5.0883	0.14694	0.0:0.5751:0.0:0.4249	.	31	Q8N4E7	FTMT_HUMAN	C	31	ENSP00000313691:R31C	ENSP00000313691:R31C	R	+	1	0	FTMT	121215648	0.002000	0.14202	0.062000	0.19696	0.003000	0.03518	0.123000	0.15708	0.303000	0.22785	-0.143000	0.13931	CGT		PASS	0.766	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		8	1	8	1	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056476	140056476	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:140056476G>T	ENST00000504156.1	-	10	1676	c.957C>A	c.(955-957)tcC>tcA	p.S319S	HARS_ENST00000448240.1_Silent_p.S124S|HARS_ENST00000415192.2_Silent_p.S245S|HARS_ENST00000438307.2_Silent_p.S279S|HARS_ENST00000431330.2_Silent_p.S205S|HARS_ENST00000457527.2_Silent_p.S299S|HARS_ENST00000307633.3_Silent_p.S259S|HARS_ENST00000504366.1_Silent_p.S250S	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	319					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.S319S(1)|p.S209S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCAGGTCAAAGGAGATCTGTG	0.552																																						uc003lgv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(955-957)TCC>TCA		histidyl-tRNA synthetase	L-Histidine(DB00117)						115.0	125.0	122.0					5																	140056476		2203	4300	6503	SO:0001819	synonymous_variant	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056476G>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.957C>A	5.37:g.140056476G>T						HARS_uc003lgu.2_Silent_p.S250S|HARS_uc011czm.1_Silent_p.S279S|HARS_uc003lgw.2_Silent_p.S299S|HARS_uc011czn.1_Silent_p.S259S|HARS_uc010jfu.2_Silent_p.S319S|HARS_uc011czo.1_Silent_p.S245S|HARS_uc011czp.1_Silent_p.S205S|HARS_uc011czq.1_Silent_p.S209S	p.S319S	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1039	-			319					B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	37	c.957C>A	CCDS4237.1																																																																																				PASS	0.552	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		5	82	5	82	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594237	140594237	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:140594237T>A	ENST00000341948.4	+	1	729	c.542T>A	c.(541-543)gTc>gAc	p.V181D		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V181D(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATTTTCGGGTCCTCACCCGC	0.498																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(541-543)GTC>GAC		protocadherin beta 13 precursor							39.0	43.0	42.0					5																	140594237		2203	4297	6500	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594237T>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.542T>A	5.37:g.140594237T>A	ENSP00000345491:p.Val181Asp						p.V181D	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	729	+			181			Cadherin 2.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.542T>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.219475	0.79464	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.60040	0.22	3.45	3.45	0.39498	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78848	0.4348	H	0.94542	3.55	0.20196	N	0.999926	D	0.63046	0.992	D	0.68943	0.961	T	0.68002	-0.5524	9	0.87932	D	0	.	6.5411	0.22380	0.0:0.1196:0.0:0.8804	.	181	Q9Y5F0	PCDBD_HUMAN	D	181	ENSP00000345491:V181D	ENSP00000345491:V181D	V	+	2	0	PCDHB13	140574421	0.197000	0.23362	0.004000	0.12327	0.859000	0.49053	3.612000	0.54142	1.322000	0.45245	0.260000	0.18958	GTC		PASS	0.498	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		7	34	7	34	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140750236	140750236	+	Missense_Mutation	SNP	G	G	A	rs370792537		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:140750236G>A	ENST00000576222.1	+	1	406	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	92	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATAGACCGAGAGGAGATT	0.443																																						uc003ljw.1																			0					0						c.(274-276)CGA>CAA		protocadherin gamma subfamily B, 3 isoform 1		G	,,,,,,,GLN/ARG,GLN/ARG	0,3722		0,0,1861	194.0	195.0	194.0		,,,,,,,275,275	0.2	0.1	5		194	1,8207		0,1,4103	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,43,43	0,1,5964	AA,AG,GG		0.0122,0.0,0.0084	,,,,,,,,	,,,,,,,92/930,92/815	140750236	1,11929	1861	4104	5965	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750236G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.275G>A	5.37:g.140750236G>A	ENSP00000461862:p.Arg92Gln					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_uc011dat.1_Missense_Mutation_p.R92Q	p.R92Q	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+			92			Extracellular (Potential).|Cadherin 1.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.275G>A	CCDS58980.1																																																																																				PASS	0.443	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		15	164	15	164	---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151239385	151239385	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:151239385A>T	ENST00000455880.2	-	4	723	c.437T>A	c.(436-438)cTa>cAa	p.L146Q	GLRA1_ENST00000274576.4_Missense_Mutation_p.L146Q|GLRA1_ENST00000545569.1_Missense_Mutation_p.L63Q|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	146					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.L146Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGATCCTTAGCAATTTGTT	0.527																																						uc003lut.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(436-438)CTA>CAA		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						186.0	159.0	168.0					5																	151239385		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239385A>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.437T>A	5.37:g.151239385A>T	ENSP00000411593:p.Leu146Gln					GLRA1_uc003lur.2_Missense_Mutation_p.L146Q|GLRA1_uc003lus.2_Missense_Mutation_p.L63Q	p.L146Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	724	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	146			Extracellular (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.437T>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706098	0.89018	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.81499	-1.5;-1.5;-1.5	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.92919	0.7747	H	0.96239	3.79	0.58432	D	0.999991	D;D;D	0.71674	0.996;0.998;0.995	D;D;D	0.76575	0.988;0.988;0.979	D	0.95055	0.8190	10	0.87932	D	0	.	15.924	0.79597	1.0:0.0:0.0:0.0	.	146;63;146	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	Q	146;146;63	ENSP00000274576:L146Q;ENSP00000411593:L146Q;ENSP00000445913:L63Q	ENSP00000274576:L146Q	L	-	2	0	GLRA1	151219578	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.092000	0.94157	2.217000	0.71921	0.533000	0.62120	CTA		PASS	0.527	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			26	32	26	32	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154316660	154316660	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:154316660G>T	ENST00000285873.7	-	2	327	c.252C>A	c.(250-252)acC>acA	p.T84T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.T84T(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTCGGAGCTGGTGGCACAGA	0.473																																						uc003lvx.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(250-252)ACC>ACA		gemin 5							233.0	215.0	221.0					5																	154316660		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154316660G>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.252C>A	5.37:g.154316660G>T						GEMIN5_uc011ddk.1_Silent_p.T84T	p.T84T	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		2	335	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	84			WD 1.		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.252C>A	CCDS4330.1																																																																																				PASS	0.473	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	70	5	70	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156186285	156186285	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:156186285C>A	ENST00000435422.3	+	8	1241	c.754C>A	c.(754-756)Cct>Act	p.P252T	SGCD_ENST00000337851.4_Missense_Mutation_p.P253T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	252					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.P253T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCTACACGCCTACAGGAAC	0.493																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(754-756)CCT>ACT		delta-sarcoglycan isoform 3							119.0	114.0	116.0					5																	156186285		1970	4166	6136	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186285C>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.754C>A	5.37:g.156186285C>A	ENSP00000403003:p.Pro252Thr					SGCD_uc003lwc.3_Missense_Mutation_p.P253T	p.P252T	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1230	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	252			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.754C>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	8.440	0.850567	0.17034	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.94184	-3.37;-3.37	4.93	3.09	0.35607	.	0.234869	0.43919	D	0.000504	D	0.83073	0.5175	N	0.14661	0.345	0.80722	D	1	B;B	0.14805	0.011;0.008	B;B	0.19391	0.025;0.015	T	0.69953	-0.5005	10	0.13470	T	0.59	-15.0316	5.6315	0.17514	0.0:0.6093:0.1479:0.2428	.	252;253	Q92629;Q92629-2	SGCD_HUMAN;.	T	252;253	ENSP00000403003:P252T;ENSP00000338343:P253T	ENSP00000338343:P253T	P	+	1	0	SGCD	156118863	0.952000	0.32445	0.243000	0.24186	0.696000	0.40369	1.829000	0.39121	0.558000	0.29135	0.655000	0.94253	CCT		PASS	0.493	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			44	24	44	24	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156381726	156381726	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:156381726G>A	ENST00000274532.2	-	2	156	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TIMD4_ENST00000407087.3_Missense_Mutation_p.H34Y	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	34	Ig-like V-type.					integral component of membrane (GO:0016021)		p.H34Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCACCCGGTGACCCAAAACC	0.512																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(100-102)CAC>TAC		T-cell immunoglobulin and mucin domain							61.0	65.0	64.0					5																	156381726		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381726G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.100C>T	5.37:g.156381726G>A	ENSP00000274532:p.His34Tyr					TIMD4_uc010jii.2_Missense_Mutation_p.H34Y	p.H34Y	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	157	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	34			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.100C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822087	0.32237	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.02606	4.23;4.23	5.54	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.510052	0.18094	N	0.151914	T	0.03959	0.0111	L	0.43152	1.355	0.09310	N	1	P;P	0.35844	0.524;0.524	B;B	0.36989	0.238;0.238	T	0.31503	-0.9941	10	0.72032	D	0.01	-2.5668	10.2553	0.43394	0.0:0.2608:0.5843:0.1549	.	34;34	B5MCL9;Q96H15	.;TIMD4_HUMAN	Y	34	ENSP00000274532:H34Y;ENSP00000385973:H34Y	ENSP00000274532:H34Y	H	-	1	0	TIMD4	156314304	0.941000	0.31946	0.135000	0.22099	0.099000	0.18886	1.482000	0.35486	0.635000	0.30488	0.655000	0.94253	CAC		PASS	0.512	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		11	4	11	4	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160097495	160097495	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:160097495C>T	ENST00000327245.5	-	7	1496	c.650G>A	c.(649-651)tGt>tAt	p.C217Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	217			C -> R (in dbSNP:rs958912). {ECO:0000269|PubMed:14702039}.		phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C217Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCACGACACATCTTTGCTT	0.463																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(649-651)TGT>TAT		ATPase, class V, type 10B							185.0	170.0	175.0					5																	160097495		1908	4155	6063	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160097495C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.650G>A	5.37:g.160097495C>T	ENSP00000313600:p.Cys217Tyr					ATP10B_uc003lyp.2_Missense_Mutation_p.C217Y|ATP10B_uc011deg.1_Missense_Mutation_p.C261Y|ATP10B_uc003lyo.2_Missense_Mutation_p.C189Y	p.C217Y	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1497	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	217			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.650G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	8.926	0.962165	0.18583	.	.	ENSG00000118322	ENST00000327245	T	0.74421	-0.84	5.13	3.33	0.38152	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.378221	0.27447	N	0.019328	T	0.38719	0.1051	N	0.00801	-1.175	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29761	-1.0001	9	.	.	.	.	8.1648	0.31220	0.0:0.7575:0.0:0.2425	.	217;189;217	O94823-2;O94823-3;O94823	.;.;AT10B_HUMAN	Y	217	ENSP00000313600:C217Y	.	C	-	2	0	ATP10B	160030073	0.003000	0.15002	0.622000	0.29159	0.389000	0.30415	0.027000	0.13621	1.303000	0.44873	-0.224000	0.12420	TGT		PASS	0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		37	54	37	54	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167671566	167671566	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:167671566C>A	ENST00000518659.1	+	26	5701	c.5662C>A	c.(5662-5664)Ctg>Atg	p.L1888M	TENM2_ENST00000520394.1_Missense_Mutation_p.L1649M|TENM2_ENST00000519204.1_Missense_Mutation_p.L1767M|TENM2_ENST00000545108.1_Missense_Mutation_p.L1887M|TENM2_ENST00000403607.2_Missense_Mutation_p.L1712M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1888					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L1767M(1)|p.L1888M(1)|p.L1721M(1)									CAGCAGCGGGCTGGCAGCTGT	0.577																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5635-5637)CTG>ATG		odz, odd Oz/ten-m homolog 2							57.0	63.0	61.0					5																	167671566		1956	4153	6109	SO:0001583	missense	57451							g.chr5:167671566C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5662C>A	5.37:g.167671566C>A	ENSP00000429430:p.Leu1888Met					ODZ2_uc003lzr.3_Missense_Mutation_p.L1649M|ODZ2_uc003lzt.3_Missense_Mutation_p.L1252M|ODZ2_uc010jje.2_Missense_Mutation_p.L1143M	p.L1879M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	26	5635	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5635C>A		.	.	.	.	.	.	.	.	.	.	C	15.94	2.981532	0.53827	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.19;-2.18;-2.29;-2.63;-2.66	4.79	-0.455	0.12193	.	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	M	0.78916	2.43	0.41391	D	0.987617	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.90656	0.4586	10	0.36615	T	0.2	.	11.7908	0.52068	0.0:0.7908:0.0:0.2092	.	1887;1888;1649	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1888;1887;1767;1649;1712	ENSP00000429430:L1888M;ENSP00000438635:L1887M;ENSP00000428964:L1767M;ENSP00000427874:L1649M;ENSP00000384905:L1712M	ENSP00000384905:L1712M	L	+	1	2	ODZ2	167604144	0.994000	0.37717	0.793000	0.32043	0.684000	0.39900	1.864000	0.39469	-0.483000	0.06772	-0.258000	0.10820	CTG		PASS	0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		29	14	29	14	---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169535450	169535450	+	Silent	SNP	G	G	T	rs56128152	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr5:169535450G>T	ENST00000306268.6	+	2	1033	c.972G>T	c.(970-972)ccG>ccT	p.P324P	FOXI1_ENST00000449804.2_Silent_p.P229P			Q12951	FOXI1_HUMAN	forkhead box I1	324					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P324P(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCTCCCCGCTCACCAACC	0.622									Pendred syndrome																													uc003mai.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(970-972)CCG>CCT		forkhead box I1 isoform a							103.0	78.0	86.0					5																	169535450		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535450G>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.972G>T	5.37:g.169535450G>T						FOXI1_uc003maj.3_Silent_p.P229P	p.P324P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1017	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	324					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.972G>T	CCDS4372.1																																																																																				PASS	0.622	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		15	12	15	12	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6224962	6224962	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:6224962G>T	ENST00000264870.3	-	7	1195	c.930C>A	c.(928-930)gtC>gtA	p.V310V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	310					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V310V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCATACCGGACTGGATTCT	0.443																																						uc003mwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(928-930)GTC>GTA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						100.0	107.0	105.0					6																	6224962		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6224962G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.930C>A	6.37:g.6224962G>T						F13A1_uc011dib.1_Silent_p.V247V	p.V310V	NM_000129	NP_000120	P00488	F13A_HUMAN			7	1053	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	310					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.930C>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774419	0.16051	.	.	ENSG00000124491	ENST00000445223	.	.	.	5.51	1.34	0.21922	.	.	.	.	.	T	0.26159	0.0638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17776	-1.0358	4	.	.	.	.	1.7593	0.02989	0.2392:0.1882:0.429:0.1435	.	.	.	.	Y	27	.	.	S	-	2	0	F13A1	6169961	0.858000	0.29795	0.990000	0.47175	0.849000	0.48306	0.091000	0.15046	0.303000	0.22785	-0.251000	0.11542	TCC		PASS	0.443	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		49	82	49	82	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231198	7231198	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:7231198G>T	ENST00000349384.6	+	10	3180	c.2866G>T	c.(2866-2868)Gcc>Tcc	p.A956S	RREB1_ENST00000379938.2_Missense_Mutation_p.A956S|RREB1_ENST00000379933.3_Missense_Mutation_p.A956S|RREB1_ENST00000334984.6_Missense_Mutation_p.A956S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	956					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A956S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCCAGCGAAGCCAAGAAGCC	0.612																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2866-2868)GCC>TCC		ras responsive element binding protein 1 isoform							29.0	31.0	30.0					6																	7231198		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231198G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2866G>T	6.37:g.7231198G>T	ENSP00000305560:p.Ala956Ser					RREB1_uc003mxb.2_Missense_Mutation_p.A956S|RREB1_uc010jnx.2_Missense_Mutation_p.A956S	p.A956S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3256	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	956					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2866G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	4.151	0.026471	0.08054	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11385	2.91;2.87;2.91;2.78	4.75	3.86	0.44501	.	0.102892	0.42294	D	0.000738	T	0.03564	0.0102	L	0.56769	1.78	0.09310	N	0.999993	B;B;B	0.31680	0.328;0.335;0.029	B;B;B	0.31101	0.124;0.058;0.025	T	0.37337	-0.9710	10	0.18276	T	0.48	-10.2566	8.5443	0.33413	0.0804:0.1554:0.7642:0.0	.	956;956;956	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	S	956	ENSP00000369265:A956S;ENSP00000369270:A956S;ENSP00000305560:A956S;ENSP00000335574:A956S	ENSP00000335574:A956S	A	+	1	0	RREB1	7176197	0.024000	0.19004	0.009000	0.14445	0.517000	0.34286	1.469000	0.35343	1.170000	0.42753	0.655000	0.94253	GCC		PASS	0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			8	9	8	9	---	---	---	---
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:26032069C>T	ENST00000244661.2	-	1	219	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E74K(5)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607																																						uc003nfs.1																			5	Substitution - Missense(5)		lung(3)|breast(2)	ovary(2)	2						c.(220-222)GAA>AAA		histone cluster 1, H3b							73.0	78.0	76.0					6																	26032069		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032069C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.220G>A	6.37:g.26032069C>T	ENSP00000244661:p.Glu74Lys						p.E74K	NM_003537	NP_003528	P68431	H31_HUMAN			1	220	-			74					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.220G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526579	0.64860	.	.	ENSG00000124693	ENST00000244661	T	0.45276	0.9	5.24	5.24	0.73138	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.48395	D	0.99964	.	.	.	.	.	.	T	0.61232	-0.7104	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000244661:E74K	ENSP00000244661:E74K	E	-	1	0	HIST1H3B	26140048	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAA		PASS	0.607	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		24	48	24	48	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28297448	28297448	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:28297448C>T	ENST00000414429.1	-	6	916	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E5K|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E5K|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E5K|ZSCAN31_ENST00000481934.1_5'Flank			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	5					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.E5K(1)									TACTGTTCCTCTGTTGAAGCC	0.423																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)GAG>AAG		zinc finger protein 323							75.0	73.0	74.0					6																	28297448		2202	4300	6502	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297448C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.13G>A	6.37:g.28297448C>T	ENSP00000390076:p.Glu5Lys					ZNF323_uc003nld.2_Missense_Mutation_p.E5K|ZNF323_uc010jra.2_Missense_Mutation_p.E5K|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.E5K	p.E5K	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	413	-			5					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.13G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113733	0.37339	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036;ENST00000444081;ENST00000439628	T;T;T;T;T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;4.35;4.31;4.07;3.73;3.63;3.49	3.01	2.1	0.27182	.	.	.	.	.	T	0.01765	0.0056	L	0.49126	1.545	0.09310	N	1	B	0.26935	0.164	B	0.17433	0.018	T	0.45308	-0.9270	9	0.15952	T	0.53	.	7.7265	0.28763	0.0:0.7216:0.2784:0.0	.	5	Q96LW9	ZN323_HUMAN	K	5	ENSP00000380050:E5K;ENSP00000413705:E5K;ENSP00000390076:E5K;ENSP00000345339:E5K;ENSP00000389479:E5K;ENSP00000412519:E5K;ENSP00000416108:E5K;ENSP00000406376:E5K;ENSP00000411033:E5K;ENSP00000416225:E5K	ENSP00000345339:E5K	E	-	1	0	ZNF323	28405427	0.021000	0.18746	0.032000	0.17829	0.482000	0.33219	1.365000	0.34182	0.786000	0.33708	0.563000	0.77884	GAG		PASS	0.423	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		23	40	23	40	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29274902	29274902	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:29274902G>A	ENST00000377160.2	+	1	500	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V146M(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGTGATAGCTGTGTGGATTGC	0.483																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GTG>ATG		olfactory receptor, family 5, subfamily U member							150.0	152.0	151.0					6																	29274902		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274902G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.436G>A	6.37:g.29274902G>A	ENSP00000366365:p.Val146Met						p.V146M	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	436	+			146			Helical; Name=4; (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.436G>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303836	0.81136	.	.	ENSG00000204695	ENST00000377160	T	0.41065	1.01	4.86	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.553780	0.14657	N	0.306203	T	0.47135	0.1429	M	0.77712	2.385	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.23048	-1.0199	10	0.72032	D	0.01	.	7.4489	0.27227	0.1538:0.0:0.6957:0.1504	.	146	Q9UGF5	O14J1_HUMAN	M	146	ENSP00000366365:V146M	ENSP00000366365:V146M	V	+	1	0	OR14J1	29382881	0.000000	0.05858	0.012000	0.15200	0.900000	0.52787	-0.390000	0.07332	0.687000	0.31509	0.650000	0.86243	GTG		PASS	0.483	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			34	45	34	45	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31948290	31948290	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:31948290C>T	ENST00000375333.2	+	6	931	c.878C>T	c.(877-879)cCt>cTt	p.P293L	C4A_ENST00000428956.2_5'Flank|C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.P289L|C4A_ENST00000537134.1_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	293					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P293L(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTAGCTGTGCCTGGAGCTGGG	0.587																																						uc003nyv.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(877-879)CCT>CTT		serine/threonine kinase 19 isoform 2							80.0	70.0	73.0					6																	31948290		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31948290C>T	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.878C>T	6.37:g.31948290C>T	ENSP00000364482:p.Pro293Leu					STK19_uc003nyt.2_Missense_Mutation_p.P246L|STK19_uc011dox.1_Missense_Mutation_p.P250L|STK19_uc003nyw.2_Missense_Mutation_p.P289L|STK19_uc010jtn.1_RNA|C4A_uc011doy.1_5'Flank|C4A_uc011doz.1_5'Flank|C4A_uc011dpa.1_5'Flank	p.P293L	NM_032454	NP_115830	P49842	STK19_HUMAN			6	1006	+			293					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.878C>T	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918075	0.92249	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	D;D	0.86497	-2.13;-2.13	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.93512	0.6854	10	0.87932	D	0	-14.5143	17.2166	0.86946	0.0:1.0:0.0:0.0	.	246;289;293;246	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	L	289;293	ENSP00000364480:P289L;ENSP00000364482:P293L	ENSP00000364480:P289L	P	+	2	0	STK19	32056269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.433000	0.73404	2.364000	0.80123	0.555000	0.69702	CCT		PASS	0.587	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			9	12	9	12	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46787396	46787396	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:46787396G>A	ENST00000230588.4	+	7	520	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	171	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D171N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTCAAGGACGGACCGGGATGA	0.478																																						uc010jzh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(511-513)GAC>AAC		meprin A alpha precursor							291.0	270.0	277.0					6																	46787396		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46787396G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.511G>A	6.37:g.46787396G>A	ENSP00000230588:p.Asp171Asn					MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.D199N|MEP1A_uc011dwi.1_Missense_Mutation_p.D71N	p.D171N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		7	553	+			171			Extracellular (Potential).|Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.511G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.677088	0.96764	.	.	ENSG00000112818	ENST00000230588	T	0.75367	-0.93	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87431	0.2388	10	0.87932	D	0	-34.6062	20.0795	0.97766	0.0:0.0:1.0:0.0	.	199;171	B7ZL91;Q16819	.;MEP1A_HUMAN	N	171	ENSP00000230588:D171N	ENSP00000230588:D171N	D	+	1	0	MEP1A	46895355	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.395000	0.97266	2.747000	0.94245	0.650000	0.86243	GAC		PASS	0.478	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		6	135	6	135	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826157	46826157	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:46826157G>A	ENST00000283296.7	-	17	3771	c.3483C>T	c.(3481-3483)gtC>gtT	p.V1161V	GPR116_ENST00000265417.7_Silent_p.V1161V|GPR116_ENST00000362015.4_Silent_p.V1161V|GPR116_ENST00000545669.1_Silent_p.V590V|GPR116_ENST00000456426.2_Silent_p.V1019V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1161					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1161V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGAGCCAACAGACATTCTTCC	0.547																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3481-3483)GTC>GTT		G-protein coupled receptor 116 precursor							39.0	37.0	38.0					6																	46826157		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826157G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3483C>T	6.37:g.46826157G>A						GPR116_uc011dwj.1_Silent_p.V716V|GPR116_uc011dwk.1_Silent_p.V590V|GPR116_uc003oyp.3_Silent_p.V1019V|GPR116_uc003oyq.3_Silent_p.V1161V|GPR116_uc010jzi.1_Silent_p.V833V	p.V1161V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3772	-			1161			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3483C>T	CCDS4919.1																																																																																				PASS	0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		15	19	15	19	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50740417	50740417	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:50740417C>A	ENST00000008391.3	+	8	1427	c.1199C>A	c.(1198-1200)aCa>aAa	p.T400K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.T400K(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTTTCCAAACAGTTCTCAGT	0.458																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1198-1200)ACA>AAA		transcription factor AP-2 beta-like 1							66.0	64.0	65.0					6																	50740417		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740417C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1199C>A	6.37:g.50740417C>A	ENSP00000008391:p.Thr400Lys					TFAP2D_uc011dwt.1_RNA	p.T400K	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1711	+	Lung NSC(77;0.0334)		400			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1199C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586763	0.66105	.	.	ENSG00000008197	ENST00000008391	D	0.96427	-4.01	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	N	0.14661	0.345	0.80722	D	1	P	0.38440	0.631	B	0.44044	0.439	D	0.93583	0.6914	10	0.62326	D	0.03	-21.0128	19.3034	0.94151	0.0:1.0:0.0:0.0	.	400	Q7Z6R9	AP2D_HUMAN	K	400	ENSP00000008391:T400K	ENSP00000008391:T400K	T	+	2	0	TFAP2D	50848376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.577000	0.86979	0.467000	0.42956	ACA		PASS	0.458	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		16	33	16	33	---	---	---	---
GCLC	2729	broad.mit.edu	37	6	53372322	53372322	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:53372322T>C	ENST00000229416.6	-	9	1523	c.1040A>G	c.(1039-1041)gAc>gGc	p.D347G	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	347					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.D347G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TATCGTCAAGTCGATGTCATT	0.383																																						uc003pbw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1039-1041)GAC>GGC		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						170.0	154.0	159.0					6																	53372322		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53372322T>C	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1040A>G	6.37:g.53372322T>C	ENSP00000229416:p.Asp347Gly					GCLC_uc003pbv.1_Missense_Mutation_p.D71G	p.D347G	NM_001498	NP_001489	P48506	GSH1_HUMAN			9	1428	-	Lung NSC(77;0.0137)		347					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1040A>G	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746027	0.69418	.	.	ENSG00000001084	ENST00000229416	T	0.73363	-0.74	5.87	5.87	0.94306	.	0.129115	0.64402	D	0.000001	T	0.71626	0.3362	M	0.81614	2.55	0.80722	D	1	B	0.29136	0.234	B	0.35655	0.207	T	0.73206	-0.4056	10	0.44086	T	0.13	.	16.2847	0.82712	0.0:0.0:0.0:1.0	.	347	P48506	GSH1_HUMAN	G	347	ENSP00000229416:D347G	ENSP00000229416:D347G	D	-	2	0	GCLC	53480281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.242000	0.73789	0.528000	0.53228	GAC		PASS	0.383	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			14	45	14	45	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72974741	72974741	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:72974741C>G	ENST00000521978.1	+	20	3180	c.3180C>G	c.(3178-3180)caC>caG	p.H1060Q	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.H1060Q|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1060					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.H1060Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAGTTCTCACTGGAATATTT	0.383																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3178-3180)CAC>CAG		regulating synaptic membrane exocytosis 1							47.0	44.0	45.0					6																	72974741		1826	4082	5908	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72974741C>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3180C>G	6.37:g.72974741C>G	ENSP00000428417:p.His1060Gln					RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.H277Q|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	p.H1060Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			20	3257	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1060					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3180C>G	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354721	0.24512	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.13657	2.61;2.57	5.76	1.62	0.23740	.	0.000000	0.47455	D	0.000240	T	0.01905	0.0060	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	10	0.30078	T	0.28	-10.4676	6.2297	0.20728	0.0:0.545:0.1451:0.31	.	1060	Q86UR5	RIMS1_HUMAN	Q	1060	ENSP00000264839:H1060Q;ENSP00000428417:H1060Q	ENSP00000264839:H1060Q	H	+	3	2	RIMS1	73031462	0.966000	0.33281	1.000000	0.80357	0.987000	0.75469	0.286000	0.18902	0.415000	0.25817	0.585000	0.79938	CAC		PASS	0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			3	7	3	7	---	---	---	---
KHDC1	80759	broad.mit.edu	37	6	73951416	73951416	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:73951416G>C	ENST00000370384.3	-	5	1050	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.L111V	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	184						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)	p.L111V(1)		large_intestine(1)|lung(4)|skin(1)	6						TCGTTGGTCAGAGGCTGGCTT	0.567																																						uc003pgo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(550-552)CTG>GTG		KH homology domain containing 1							95.0	95.0	95.0					6																	73951416		2003	4182	6185	SO:0001583	missense	80759					integral to membrane	RNA binding	g.chr6:73951416G>C		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.550C>G	6.37:g.73951416G>C	ENSP00000359411:p.Leu184Val					KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.L111V	p.L184V	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN			5	1051	-			184					Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.550C>G	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725174	0.48833	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.53423	0.62	2.18	2.18	0.27775	.	.	.	.	.	T	0.47544	0.1451	L	0.58101	1.795	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.18840	-1.0324	9	0.87932	D	0	.	7.9311	0.29904	0.0:0.0:1.0:0.0	.	184	Q4VXA5	KHDC1_HUMAN	V	111;184	ENSP00000359411:L184V	ENSP00000257765:L111V	L	-	1	2	KHDC1	74008137	0.021000	0.18746	0.039000	0.18376	0.442000	0.32017	1.011000	0.29911	1.528000	0.49103	0.561000	0.74099	CTG		PASS	0.567	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		6	65	6	65	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854319	88854319	+	Silent	SNP	C	C	T	rs559393374		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:88854319C>T	ENST00000537554.1	-	2	4237	c.675G>A	c.(673-675)aaG>aaA	p.K225K	CNR1_ENST00000468898.1_Silent_p.K192K|CNR1_ENST00000428600.2_Silent_p.K225K|CNR1_ENST00000535130.1_Silent_p.K225K|CNR1_ENST00000549890.1_Silent_p.K225K|CNR1_ENST00000549716.1_Silent_p.K164K|CNR1_ENST00000369499.2_Silent_p.K225K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Silent_p.K225K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	225					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.K225K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGACAATCCTCTTATAGGCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20815	0.0		0.0	False		,,,				2504	0.001					uc011dzq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(673-675)AAG>AAA		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						43.0	44.0	43.0					6																	88854319		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854319C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.675G>A	6.37:g.88854319C>T						CNR1_uc010kbz.2_Silent_p.K225K|CNR1_uc011dzr.1_Silent_p.K225K|CNR1_uc011dzs.1_Silent_p.K225K|CNR1_uc003pmq.3_Silent_p.K225K|CNR1_uc011dzt.1_Silent_p.K225K|CNR1_uc010kca.2_Silent_p.K192K	p.K225K	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4238	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	225			Cytoplasmic (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.675G>A	CCDS5015.1																																																																																				PASS	0.597	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			10	17	10	17	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101103640	101103640	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:101103640T>C	ENST00000369162.2	-	17	3102	c.2758A>G	c.(2758-2760)Act>Gct	p.T920A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	920					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.T920A(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAAGATAAGTGTAACTTATC	0.333																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2758-2760)ACT>GCT		activating signal cointegrator 1 complex subunit							111.0	107.0	108.0					6																	101103640		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101103640T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2758A>G	6.37:g.101103640T>C	ENSP00000358159:p.Thr920Ala					ASCC3_uc011eai.1_Missense_Mutation_p.T822A	p.T920A	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	17	3087	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	920					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2758A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.927803	0.92389	.	.	ENSG00000112249	ENST00000369162	T	0.67523	-0.27	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	H	0.97214	3.96	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	D	0.90474	0.4455	10	0.66056	D	0.02	.	16.0958	0.81123	0.0:0.0:0.0:1.0	.	920	Q8N3C0	HELC1_HUMAN	A	920	ENSP00000358159:T920A	ENSP00000358159:T920A	T	-	1	0	ASCC3	101210361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.828000	0.69307	2.203000	0.70933	0.482000	0.46254	ACT		PASS	0.333	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		5	16	5	16	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112463333	112463333	+	Silent	SNP	G	G	A	rs35772073		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:112463333G>A	ENST00000230538.7	-	20	3052	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	LAMA4_ENST00000522006.1_Silent_p.L878L|LAMA4_ENST00000389463.4_Silent_p.L878L|LAMA4_ENST00000424408.2_Silent_p.L878L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	885	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.L878L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTTGCTTCCGAGGTACAGGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20524	0.0		0.001	False		,,,				2504	0.0					uc003pvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2653-2655)CTC>CTT		laminin, alpha 4 isoform 1 precursor		G	,,	0,4406		0,0,2203	105.0	105.0	105.0		2655,2634,2634	-9.3	0.2	6	dbSNP_126	105	9,8591	7.1+/-27.0	0,9,4291	yes	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	,,	885/1824,878/1817,878/1817	112463333	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463333G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2655C>T	6.37:g.112463333G>A						LAMA4_uc003pvv.2_Silent_p.L878L|LAMA4_uc003pvt.2_Silent_p.L878L	p.L885L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	2964	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	885			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2655C>T	CCDS43491.1																																																																																				PASS	0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		23	48	23	48	---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121767995	121767995	+	Start_Codon_SNP	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:121767995T>A	ENST00000282561.3	+	2	159	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	1					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.M1K(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCAGGCAACATGGGTGACTGG	0.443																																						uc003pyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1-3)ATG>AAG		connexin 43	Carvedilol(DB01136)						121.0	127.0	125.0					6																	121767995		2203	4300	6503	SO:0001582	initiator_codon_variant	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121767995T>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.2T>A	6.37:g.121767995T>A	ENSP00000282561:p.Met1Lys					GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR	p.M1K	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	252	+			1					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.2T>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682716	0.68157	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.99105	-5.43	5.95	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99478	1.0947	9	0.87932	D	0	.	12.5244	0.56077	0.1251:0.0:0.0:0.8749	.	1	P17302	CXA1_HUMAN	K	1	ENSP00000282561:M1K	ENSP00000282561:M1K	M	+	2	0	GJA1	121809694	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.249000	0.72427	1.057000	0.40506	-0.341000	0.08007	ATG		PASS	0.443	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	Missense_Mutation	48	68	48	68	---	---	---	---
C6orf58	352999	broad.mit.edu	37	6	127901587	127901587	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:127901587T>C	ENST00000329722.7	+	3	578	c.566T>C	c.(565-567)tTt>tCt	p.F189S		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	189						extracellular vesicular exosome (GO:0070062)		p.F189S(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TGGAACACCTTTTACCAGGTT	0.378																																						uc003qbh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TTT>TCT		hypothetical protein LOC352999 precursor							134.0	126.0	129.0					6																	127901587		2203	4299	6502	SO:0001583	missense	352999					extracellular region		g.chr6:127901587T>C	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.566T>C	6.37:g.127901587T>C	ENSP00000328069:p.Phe189Ser						p.F189S	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	3	578	+			189					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.566T>C	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746584	0.69418	.	.	ENSG00000184530	ENST00000329722	T	0.60424	0.19	4.7	4.7	0.59300	.	0.169067	0.52532	D	0.000072	T	0.69504	0.3118	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.75113	-0.3432	10	0.87932	D	0	-42.7117	12.0592	0.53552	0.0:0.0:0.0:1.0	.	189	Q6P5S2	CF058_HUMAN	S	189	ENSP00000328069:F189S	ENSP00000328069:F189S	F	+	2	0	C6orf58	127943280	0.879000	0.30193	0.967000	0.41034	0.944000	0.59088	1.294000	0.33365	2.107000	0.64212	0.528000	0.53228	TTT		PASS	0.378	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		7	17	7	17	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130363886	130363886	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:130363886T>A	ENST00000529410.1	+	5	521	c.42T>A	c.(40-42)gaT>gaA	p.D14E	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D14E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D14E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D14E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D14E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D14E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	14					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D14E(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGAGTTTGATGTGTTCAGTG	0.388																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(40-42)GAT>GAA		l(3)mbt-like 3 isoform a							186.0	164.0	172.0					6																	130363886		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130363886T>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.42T>A	6.37:g.130363886T>A	ENSP00000431962:p.Asp14Glu					L3MBTL3_uc003qbu.2_Missense_Mutation_p.D14E	p.D14E	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	3	212	+			14					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.42T>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055286	0.75960	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.61392	2.03;2.02;2.03;0.11;2.02;2.02;2.03	5.7	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.69823	2.125	0.29908	N	0.82379	D;D	0.89917	0.996;1.0	D;D	0.91635	0.99;0.999	T	0.54377	-0.8303	10	0.45353	T	0.12	.	8.1444	0.31102	0.0:0.2316:0.0:0.7684	.	14;14	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	E	14	ENSP00000431962:D14E;ENSP00000437185:D14E;ENSP00000354526:D14E;ENSP00000433257:D14E;ENSP00000357121:D14E;ENSP00000436706:D14E;ENSP00000357118:D14E	ENSP00000354526:D14E	D	+	3	2	L3MBTL3	130405579	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	1.018000	0.30002	0.103000	0.17682	-0.376000	0.06991	GAT		PASS	0.388	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		11	24	11	24	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144093534	144093534	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:144093534G>T	ENST00000427704.2	+	7	1469	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	PHACTR2_ENST00000440869.2_Missense_Mutation_p.G458W|PHACTR2_ENST00000367584.4_Missense_Mutation_p.G435W|PHACTR2_ENST00000305766.6_Missense_Mutation_p.G367W|PHACTR2_ENST00000367582.3_Missense_Mutation_p.G378W	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	447							protein phosphatase inhibitor activity (GO:0004864)	p.G367W(1)|p.G458W(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGACTCGGACGGGCCTATCTT	0.517																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1339-1341)GGG>TGG		phosphatase and actin regulator 2 isoform 3							71.0	80.0	77.0					6																	144093534		2143	4253	6396	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093534G>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1339G>T	6.37:g.144093534G>T	ENSP00000391763:p.Gly447Trp					PHACTR2_uc010khh.2_Missense_Mutation_p.G367W|PHACTR2_uc010khi.2_Missense_Mutation_p.G458W|PHACTR2_uc003qjr.3_Missense_Mutation_p.G378W	p.G447W	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1469	+			447					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1339G>T	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144690	0.57044	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.36157	1.27;1.68;1.3;1.67;1.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.57670	-0.7771	10	0.87932	D	0	.	19.4985	0.95083	0.0:0.0:1.0:0.0	.	458;367;378;447	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	W	435;447;367;458;378	ENSP00000356556:G435W;ENSP00000391763:G447W;ENSP00000305530:G367W;ENSP00000417038:G458W;ENSP00000356554:G378W	ENSP00000305530:G367W	G	+	1	0	PHACTR2	144135227	1.000000	0.71417	0.918000	0.36340	0.018000	0.09664	8.586000	0.90806	2.618000	0.88619	0.462000	0.41574	GGG		PASS	0.517	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		8	15	8	15	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144768768	144768768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:144768768C>T	ENST00000367545.3	+	15	1753	c.1753C>T	c.(1753-1755)Caa>Taa	p.Q585*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	585	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q585*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATGAAGCGTCAAACATTGGA	0.388																																						uc003qkt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1753-1755)CAA>TAA		utrophin							122.0	119.0	120.0					6																	144768768		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768768C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1753C>T	6.37:g.144768768C>T	ENSP00000356515:p.Gln585*					UTRN_uc010khq.1_Nonsense_Mutation_p.Q585*	p.Q585*	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	15	1845	+		Ovarian(120;0.218)	585			Interaction with SYNM.|Spectrin 4.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.1753C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	39	7.670296	0.98422	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.87	5.87	0.94306	.	0.302095	0.24449	N	0.038436	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3179	0.74095	0.1398:0.8602:0.0:0.0	.	.	.	.	X	585	.	ENSP00000356499:Q585X	Q	+	1	0	UTRN	144810461	0.998000	0.40836	0.890000	0.34922	0.999000	0.98932	3.785000	0.55424	2.941000	0.99782	0.655000	0.94253	CAA		PASS	0.388	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			23	59	23	59	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152642923	152642923	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:152642923A>T	ENST00000367255.5	-	83	16617	c.16016T>A	c.(16015-16017)gTt>gAt	p.V5339D	SYNE1_ENST00000448038.1_Missense_Mutation_p.V5268D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V5268D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V5012D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V5339D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5339					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.V5339D(2)|p.V5268D(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)		CGTTTCCTGAACCCAACATTT	0.398										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.(16015-16017)GTT>GAT		spectrin repeat containing, nuclear envelope 1							170.0	159.0	163.0					6																	152642923		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.chr6:152642923A>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.16016T>A	6.37:g.152642923A>T	ENSP00000356224:p.Val5339Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V5268D|SYNE1_uc003qou.3_Missense_Mutation_p.V5339D|SYNE1_uc010kiz.2_Missense_Mutation_p.V1094D	p.V5339D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	83	16618	-		Ovarian(120;0.0955)	5339			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.16016T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	19.12	3.765972	0.69878	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56444	0.55;0.54;0.46;0.54;0.6	5.53	5.53	0.82687	.	0.108510	0.39759	N	0.001280	T	0.51839	0.1698	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.65815	0.995;0.965;0.965;0.98	P;P;P;P	0.56916	0.809;0.664;0.664;0.805	T	0.58020	-0.7710	10	0.72032	D	0.01	.	15.6915	0.77457	1.0:0.0:0.0:0.0	.	5339;5339;5339;5268	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	5339;5268;5339;5268;5012	ENSP00000356224:V5339D;ENSP00000396024:V5268D;ENSP00000265368:V5339D;ENSP00000390975:V5268D;ENSP00000341887:V5012D	ENSP00000265368:V5339D	V	-	2	0	SYNE1	152684616	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.491000	0.90468	2.107000	0.64212	0.533000	0.62120	GTT		PASS	0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	26	12	26	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160491005	160491005	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:160491005T>A	ENST00000356956.1	+	31	4506	c.4358T>A	c.(4357-4359)cTg>cAg	p.L1453Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1453					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.L1453Q(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ATAATTGTCCTGAAATACGTT	0.557																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4357-4359)CTG>CAG		insulin-like growth factor 2 receptor precursor							107.0	83.0	91.0					6																	160491005		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160491005T>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4358T>A	6.37:g.160491005T>A	ENSP00000349437:p.Leu1453Gln						p.L1453Q	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	31	4506	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1453			10.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4358T>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070065	0.55539	.	.	ENSG00000197081	ENST00000356956	T	0.34859	1.34	5.62	5.62	0.85841	Mannose-6-phosphate receptor, binding (1);	0.247906	0.35495	N	0.003170	T	0.63402	0.2508	M	0.92169	3.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.74526	-0.3636	10	0.87932	D	0	-2.9741	15.8384	0.78818	0.0:0.0:0.0:1.0	.	1453	P11717	MPRI_HUMAN	Q	1453	ENSP00000349437:L1453Q	ENSP00000349437:L1453Q	L	+	2	0	IGF2R	160410995	1.000000	0.71417	0.000000	0.03702	0.037000	0.13140	7.096000	0.76960	2.137000	0.66172	0.459000	0.35465	CTG		PASS	0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		11	9	11	9	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165752791	165752791	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr6:165752791C>T	ENST00000366882.1	-	21	2278	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	PDE10A_ENST00000354448.4_Silent_p.K708K|PDE10A_ENST00000539869.2_Silent_p.K718K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	708					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.K708K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTTCATCCTTCTTGTCTCTGT	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(2122-2124)AAG>AAA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						150.0	151.0	150.0					6																	165752791		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752791C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2124G>A	6.37:g.165752791C>T						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K638K|PDE10A_uc003quo.2_Silent_p.K718K	p.K708K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2365	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	708					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.2124G>A																																																																																					PASS	0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	36	7	36	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4900374	4900374	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:4900374C>A	ENST00000404991.1	-	1	1251	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	355					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACCACTCTGCCTTACTTAGCA	0.403																																						uc003snk.2																			0				ovary(1)	1						c.(1066-1068)AAG>AAT		poly(A) polymerase beta (testis specific)							134.0	131.0	132.0					7																	4900374		2202	4300	6502	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900374C>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1065G>T	7.37:g.4900374C>A	ENSP00000384700:p.Lys355Asn					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.K356N	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1252	-		Ovarian(82;0.0175)	355					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1068G>T		.	.	.	.	.	.	.	.	.	.	C	11.65	1.702839	0.30232	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.59	-0.173	0.13322	.	.	.	.	.	T	0.57858	0.2082	M	0.74881	2.28	0.49798	D	0.999823	P	0.42010	0.768	P	0.44696	0.458	T	0.57883	-0.7734	8	0.56958	D	0.05	.	8.1986	0.31411	0.0:0.4569:0.0:0.5431	.	356	A4D1Z6	.	N	355	.	ENSP00000384700:K355N	K	-	3	2	PAPOLB	4866900	1.000000	0.71417	0.446000	0.26920	0.434000	0.31775	1.490000	0.35573	-0.043000	0.13513	-0.229000	0.12294	AAG		PASS	0.403	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		35	38	35	38	---	---	---	---
ISPD	729920	broad.mit.edu	37	7	16341084	16341084	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:16341084T>C	ENST00000407010.2	-	5	796	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	ISPD_ENST00000399310.3_Missense_Mutation_p.Y216C|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	266					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.Y266C(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATCTCGTTTGTAGGTCACCTA	0.383										Multiple Myeloma(15;0.18)																												uc010ktx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(796-798)TAC>TGC		notch1-induced protein isoform a							86.0	78.0	81.0					7																	16341084		1857	4101	5958	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16341084T>C	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.797A>G	7.37:g.16341084T>C	ENSP00000385478:p.Tyr266Cys	Multiple Myeloma(15;0.18)				ISPD_uc010kty.2_Missense_Mutation_p.Y216C	p.Y266C	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN			5	797	-			266					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.797A>G		.	.	.	.	.	.	.	.	.	.	T	17.41	3.383084	0.61845	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.86297	-2.1;-2.1	5.15	3.91	0.45181	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.166084	0.41396	U	0.000886	D	0.89880	0.6843	L	0.46157	1.445	0.51767	D	0.999931	D	0.89917	1.0	D	0.81914	0.995	D	0.90009	0.4120	10	0.62326	D	0.03	-1.0152	11.1209	0.48289	0.1382:0.0:0.0:0.8618	.	266	A4D126	ISPD_HUMAN	C	266;216	ENSP00000385478:Y266C;ENSP00000382249:Y216C	ENSP00000382249:Y216C	Y	-	2	0	ISPD	16307609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.743000	0.62110	2.064000	0.61679	0.533000	0.62120	TAC		PASS	0.383	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		16	11	16	11	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21892087	21892087	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:21892087G>T	ENST00000409508.3	+	67	10930	c.10899G>T	c.(10897-10899)ttG>ttT	p.L3633F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3640F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3640	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3640F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTATTAGTTGGTATTGACAA	0.398									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10918-10920)TTG>TTT		dynein, axonemal, heavy chain 11							95.0	88.0	90.0					7																	21892087		1833	4079	5912	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21892087G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10899G>T	7.37:g.21892087G>T	ENSP00000475939:p.Leu3633Phe						p.L3640F	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			68	10951	+			3640			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10920G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.86|13.86	2.362701|2.362701	0.41902|0.41902	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000421290|ENST00000328843	.|T	.|0.22134	.|1.97	6.02|6.02	2.86|2.86	0.33363|0.33363	.|.	.|0.208889	.|0.38492	.|N	.|0.001675	T|T	0.19327|0.19327	0.0464|0.0464	.|.	.|.	.|.	0.37808|0.37808	D|D	0.927942|0.927942	.|P	.|0.49307	.|0.922	.|P	.|0.47470	.|0.548	T|T	0.15235|0.15235	-1.0444|-1.0444	4|9	.|0.56958	.|D	.|0.05	.|.	0.7732|0.7732	0.01028|0.01028	0.2618:0.1719:0.3889:0.1773|0.2618:0.1719:0.3889:0.1773	.|.	.|3640	.|Q96DT5	.|DYH11_HUMAN	C|F	28|3640	.|ENSP00000330671:L3640F	.|ENSP00000330671:L3640F	G|L	+|+	1|3	0|2	DNAH11|DNAH11	21858612|21858612	0.978000|0.978000	0.34361|0.34361	0.992000|0.992000	0.48379|0.48379	0.968000|0.968000	0.65278|0.65278	1.770000|1.770000	0.38532|0.38532	1.533000|1.533000	0.49186|0.49186	0.552000|0.552000	0.68991|0.68991	GGT|TTG		PASS	0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	36	4	36	---	---	---	---
DBNL	28988	broad.mit.edu	37	7	44100498	44100498	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:44100498G>A	ENST00000448521.1	+	13	1374	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	DBNL_ENST00000468694.1_Missense_Mutation_p.V435M|DBNL_ENST00000490734.2_Missense_Mutation_p.V332M|DBNL_ENST00000452943.1_Missense_Mutation_p.V402M|DBNL_ENST00000494774.1_Missense_Mutation_p.V427M|DBNL_ENST00000456905.1_Missense_Mutation_p.V378M|DBNL_ENST00000440166.1_Missense_Mutation_p.V323M|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	426	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.V427M(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TGCCAACTACGTGGAGCTCAT	0.577																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1276-1278)GTG>ATG		drebrin-like isoform b							127.0	100.0	109.0					7																	44100498		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44100498G>A	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1276G>A	7.37:g.44100498G>A	ENSP00000411701:p.Val426Met					DBNL_uc003tjo.3_Missense_Mutation_p.V427M|DBNL_uc003tjr.3_Missense_Mutation_p.V299M|DBNL_uc003tjq.3_Missense_Mutation_p.V435M|DBNL_uc011kbm.1_Missense_Mutation_p.V402M|DBNL_uc011kbn.1_Missense_Mutation_p.V323M|DBNL_uc011kbo.1_Missense_Mutation_p.V327M|DBNL_uc011kbp.1_Missense_Mutation_p.V378M|DBNL_uc011kbq.1_Missense_Mutation_p.V351M|DBNL_uc011kbr.1_Missense_Mutation_p.V375M|DBNL_uc011kbs.1_Missense_Mutation_p.V331M	p.V426M	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			13	1374	+			426			SH3.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.1276G>A	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.161125|5.161125	0.94727|0.94727	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	.|T;T;T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;2.23;-0.15;-0.15	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Src homology-3 domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87237|0.87237	0.6127|0.6127	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D|D	0.91695|0.91695	0.5369|0.5369	5|10	.|0.87932	.|D	.|0	-36.5253|-36.5253	18.8324|18.8324	0.92145|0.92145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|323;375;356;378;332;402;435;426;427	.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.|.;.;.;.;.;.;.;DBNL_HUMAN;.	H|M	354|426;378;323;402;435;427;332;356	.|ENSP00000411701:V426M;ENSP00000416421:V378M;ENSP00000415173:V323M;ENSP00000405343:V402M;ENSP00000417653:V435M;ENSP00000419992:V427M;ENSP00000417749:V332M	.|ENSP00000415173:V323M	R|V	+|+	2|1	0|0	DBNL|DBNL	44067023|44067023	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.988000|0.988000	0.76386|0.76386	9.675000|9.675000	0.98638|0.98638	2.537000|2.537000	0.85549|0.85549	0.555000|0.555000	0.69702|0.69702	CGT|GTG		PASS	0.577	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		11	22	11	22	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44153224	44153224	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:44153224C>A	ENST00000223357.3	+	21	3146	c.2841C>A	c.(2839-2841)aaC>aaA	p.N947K	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.N522K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	947	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.N947K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAATCTTGAACCCGGGTGAGT	0.637																																						uc003tkb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2839-2841)AAC>AAA		adipocyte enhancer binding protein 1 precursor							48.0	53.0	51.0					7																	44153224		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153224C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2841C>A	7.37:g.44153224C>A	ENSP00000223357:p.Asn947Lys					AEBP1_uc003tkc.3_Missense_Mutation_p.N522K|AEBP1_uc003tkd.2_Missense_Mutation_p.N197K	p.N947K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			21	3146	+			947			Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2841C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	-	18.17	3.564863	0.65651	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.39787	1.06;1.06	5.08	1.05	0.20165	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	M	0.63843	1.955	0.58432	D	0.999998	P;D	0.89917	0.726;1.0	B;D	0.91635	0.306;0.999	T	0.51212	-0.8734	10	0.51188	T	0.08	-54.9825	9.6066	0.39637	0.0:0.6219:0.0:0.3781	.	522;947	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	K	947;522	ENSP00000223357:N947K;ENSP00000398878:N522K	ENSP00000223357:N947K	N	+	3	2	AEBP1	44119749	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	1.004000	0.29822	-0.013000	0.14199	-1.016000	0.02456	AAC		PASS	0.637	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		4	38	4	38	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45697428	45697428	+	Silent	SNP	C	C	T	rs142228376		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:45697428C>T	ENST00000297323.7	+	6	1273	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	ADCY1_ENST00000432715.1_Silent_p.D192D	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	417					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D417D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCAGTACGACGTGTGGTCCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16919	0.0		0.001	False		,,,				2504	0.0					uc003tne.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1249-1251)GAC>GAT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	C		1,4405	2.1+/-5.4	0,1,2202	117.0	84.0	95.0		1251	-8.9	0.0	7	dbSNP_134	95	3,8597	4.3+/-15.6	0,3,4297	no	coding-synonymous	ADCY1	NM_021116.2		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		417/1120	45697428	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45697428C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1251C>T	7.37:g.45697428C>T						ADCY1_uc003tnd.2_Silent_p.D192D	p.D417D	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			6	1269	+			417			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1251C>T	CCDS34631.1																																																																																				PASS	0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		9	13	9	13	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188613	57188613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:57188613G>T	ENST00000331162.4	-	5	779	c.509C>A	c.(508-510)tCa>tAa	p.S170*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	170					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.S170*(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)			ATTGGAATTTGAAAATTTACC	0.299																																						uc010kzo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(508-510)TCA>TAA		zinc finger protein 479							36.0	34.0	35.0					7																	57188613		1831	4089	5920	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188613G>T	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.509C>A	7.37:g.57188613G>T	ENSP00000333776:p.Ser170*						p.S170*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	780	-			170						Nonsense_Mutation	SNP	ENST00000331162.4	37	c.509C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.420957	0.42918	.	.	ENSG00000185177	ENST00000331162	.	.	.	0.946	-0.252	0.12999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5586	0.07873	0.3148:0.0:0.6852:0.0	.	.	.	.	X	170	.	ENSP00000333776:S170X	S	-	2	0	ZNF479	57192555	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.079000	0.11357	-0.518000	0.06452	-0.526000	0.04340	TCA		PASS	0.299	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		11	20	11	20	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579540	82579540	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:82579540C>T	ENST00000333891.9	-	6	10701	c.10364G>A	c.(10363-10365)cGg>cAg	p.R3455Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R175Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3455Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3455Q(2)|p.R3386Q(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						CACATAGCTCCGATCTGTGGC	0.428																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(10363-10365)CGG>CAG		piccolo isoform 1							126.0	114.0	118.0					7																	82579540		1955	4165	6120	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.chr7:82579540C>T	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.10364G>A	7.37:g.82579540C>T	ENSP00000334319:p.Arg3455Gln					PCLO_uc003uhv.2_Missense_Mutation_p.R3455Q|PCLO_uc010lec.2_Missense_Mutation_p.R420Q	p.R3455Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10653	-			3386						Missense_Mutation	SNP	ENST00000333891.9	37	c.10364G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505375	0.44558	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35789	1.75;1.77;1.29	5.65	5.65	0.86999	.	.	.	.	.	T	0.31949	0.0813	M	0.69823	2.125	0.23406	N	0.997746	B;P;P	0.44006	0.066;0.824;0.824	B;B;B	0.28849	0.007;0.095;0.095	T	0.50533	-0.8817	9	0.87932	D	0	.	8.8497	0.35192	0.1502:0.7754:0.0:0.0743	.	3386;3455;3455	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3386;3455;3455;175	ENSP00000334319:R3455Q;ENSP00000388393:R3455Q;ENSP00000393760:R175Q	ENSP00000334319:R3455Q	R	-	2	0	PCLO	82417476	0.073000	0.21202	0.997000	0.53966	0.561000	0.35649	2.082000	0.41605	2.666000	0.90696	0.655000	0.94253	CGG		PASS	0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		28	38	28	38	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87053341	87053341	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:87053341G>A	ENST00000265723.4	-	17	2203	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ABCB4_ENST00000359206.3_Silent_p.L698L|ABCB4_ENST00000358400.3_Silent_p.L698L|ABCB4_ENST00000453593.1_Silent_p.L698L|ABCB4_ENST00000545634.1_Silent_p.L698L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	698					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L698L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGGACCTTCAGAAAGGACACT	0.458																																						uc003uiv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2092-2094)CTG>TTG		ATP-binding cassette, subfamily B, member 4							165.0	156.0	159.0					7																	87053341		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053341G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2092C>T	7.37:g.87053341G>A						ABCB4_uc003uiw.1_Silent_p.L698L|ABCB4_uc003uix.1_Silent_p.L698L	p.L698L	NM_018849	NP_061337	P21439	MDR3_HUMAN			17	2168	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		698			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.2092C>T	CCDS5606.1																																																																																				PASS	0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		43	64	43	64	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92733928	92733928	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:92733928T>G	ENST00000379958.2	-	3	1752	c.1483A>C	c.(1483-1485)Aat>Cat	p.N495H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	495						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.N495H(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACCTGCCATTGCAGAAAATC	0.383																																						uc003umf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1483-1485)AAT>CAT		sterile alpha motif domain containing 9							90.0	94.0	93.0					7																	92733928		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92733928T>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1483A>C	7.37:g.92733928T>G	ENSP00000369292:p.Asn495His					SAMD9_uc003umg.2_Missense_Mutation_p.N495H	p.N495H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1739	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		495					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1483A>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409119	0.62399	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.17054	2.3;2.3	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000004	T	0.41026	0.1141	M	0.76002	2.32	0.39119	D	0.961624	D	0.89917	1.0	D	0.91635	0.999	T	0.46275	-0.9203	10	0.87932	D	0	-12.5155	12.8175	0.57673	0.0:0.0:0.0:1.0	.	495	Q5K651	SAMD9_HUMAN	H	495	ENSP00000369292:N495H;ENSP00000414529:N495H	ENSP00000369292:N495H	N	-	1	0	SAMD9	92571864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.525000	0.81892	1.972000	0.57404	0.491000	0.48974	AAT		PASS	0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		18	38	18	38	---	---	---	---
PON3	5446	broad.mit.edu	37	7	95025658	95025658	+	Missense_Mutation	SNP	C	C	G	rs146627952	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:95025658C>G	ENST00000265627.5	-	1	15	c.5G>C	c.(4-6)gGg>gCg	p.G2A	PON3_ENST00000427422.1_Missense_Mutation_p.G2A|PON3_ENST00000475439.1_5'Flank|PON1_ENST00000542556.1_Missense_Mutation_p.G2A|PON3_ENST00000451904.1_Missense_Mutation_p.G2A	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	2					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.G2A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CACGAGCTTCCCCATGGTCTC	0.701																																						uc011kih.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(4-6)GGG>GCG		SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	Atorvastatin(DB01076)|Cefazolin(DB01327)						81.0	73.0	76.0					7																	95025658		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:95025658C>G	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.5G>C	7.37:g.95025658C>G	ENSP00000265627:p.Gly2Ala					PON3_uc003unt.2_Missense_Mutation_p.G2A|PON3_uc011kii.1_Missense_Mutation_p.G2A	p.G2A			P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	30	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		2					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.5G>C	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191725	0.38707	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.35789	1.29;1.3;1.48	4.45	2.57	0.30868	Six-bladed beta-propeller, TolB-like (1);	0.230026	0.42682	D	0.000666	T	0.25644	0.0624	L	0.38175	1.15	0.47819	D	0.999529	B;B;B	0.17667	0.023;0.012;0.013	B;B;B	0.22601	0.027;0.04;0.011	T	0.05022	-1.0911	10	0.13108	T	0.6	-8.3629	10.9781	0.47478	0.0:0.635:0.365:0.0	.	2;2;2	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	A	2	ENSP00000444854:G2A;ENSP00000265627:G2A;ENSP00000413276:G2A	ENSP00000444854:G2A	G	-	2	0	PON1;PON3	94863594	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	0.398000	0.20899	0.762000	0.33152	0.561000	0.74099	GGG		PASS	0.701	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		16	34	16	34	---	---	---	---
OCM2	4951	broad.mit.edu	37	7	97619402	97619402	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:97619402G>T	ENST00000257627.4	-	1	106	c.15C>A	c.(13-15)gaC>gaA	p.D5E	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	5							calcium ion binding (GO:0005509)	p.D5E(1)		lung(4)	4						CACTGAGCACGTCCGTGATGC	0.557																																						uc003upc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GAC>GAA		oncomodulin-like							109.0	94.0	99.0					7																	97619402		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97619402G>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.15C>A	7.37:g.97619402G>T	ENSP00000257627:p.Asp5Glu						p.D5E	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			1	15	-			5					P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.15C>A	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	g	10.07	1.248712	0.22880	.	.	ENSG00000135175	ENST00000257627	T	0.71817	-0.6	3.49	0.309	0.15820	.	0.124768	0.56097	D	0.000038	T	0.62636	0.2444	M	0.75777	2.31	0.24646	N	0.993541	B	0.26672	0.156	B	0.23275	0.045	T	0.55244	-0.8171	10	0.46703	T	0.11	-23.284	5.4021	0.16301	0.5545:0.0:0.4455:0.0	.	5	P0CE71	OCM2_HUMAN	E	5	ENSP00000257627:D5E	ENSP00000257627:D5E	D	-	3	2	OCM2	97457338	0.000000	0.05858	0.679000	0.29978	0.664000	0.39144	-1.677000	0.01944	0.216000	0.20781	-0.401000	0.06369	GAC		PASS	0.557	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		14	44	14	44	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100346014	100346014	+	RNA	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:100346014G>T	ENST00000348028.3	+	0	1335				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G390G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTTCCGGGGATGGTGGAC	0.542																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1168-1170)GGG>GGT		zonadhesin isoform 3							62.0	64.0	63.0					7																	100346014		1906	4121	6027			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100346014G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100346014G>T						ZAN_uc003uwk.2_Silent_p.G390G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.G390G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		11	1335	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		390			MAM 3.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.1170G>T																																																																																					PASS	0.542	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		28	25	28	25	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683043	100683043	+	Silent	SNP	C	C	A	rs371681290		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:100683043C>A	ENST00000306151.4	+	3	8410	c.8346C>A	c.(8344-8346)gtC>gtA	p.V2782V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2782	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V2782V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATACCTGTCACCACTTCTA	0.473																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8344-8346)GTC>GTA		mucin 17 precursor							252.0	244.0	246.0					7																	100683043		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683043C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8346C>A	7.37:g.100683043C>A						MUC17_uc010lho.1_RNA	p.V2782V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8399	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2782			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.8346C>A	CCDS34711.1																																																																																				PASS	0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		65	197	65	197	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122047709	122047709	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:122047709C>A	ENST00000449022.2	-	20	2650	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.E875D|CADPS2_ENST00000412584.2_Missense_Mutation_p.E871D|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.E871D	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	877	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.E874D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCCAAAATTTCTCTGCATGTT	0.383																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2629-2631)GAG>GAT		Ca2+-dependent activator protein for secretion 2							56.0	55.0	55.0					7																	122047709		1936	4142	6078	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122047709C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2631G>T	7.37:g.122047709C>A	ENSP00000398481:p.Glu877Asp					CADPS2_uc011knx.1_Missense_Mutation_p.E252D|CADPS2_uc003vkg.3_Missense_Mutation_p.E571D|CADPS2_uc010lkq.2_Missense_Mutation_p.E871D	p.E877D	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			19	2794	-			877			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2631G>T	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.3|21.3|21.3	4.131368|4.131368|4.131368	0.77549|0.77549|0.77549	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721|ENST00000462699	T;T;T;T|.|.	0.59224|.|.	0.29;0.45;0.28;0.46|.|.	5.44|5.44|5.44	4.56|4.56|4.56	0.56223|0.56223|0.56223	Calcium-dependent secretion activator (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|.|T	0.73361|.|0.73361	0.3577|.|0.3577	M|M|M	0.75085|0.75085|0.75085	2.285|2.285|2.285	0.58432|0.58432|0.58432	D|D|D	0.999994|0.999994|0.999994	D;D;D;D|.|.	0.89917|.|.	0.998;1.0;0.998;0.99|.|.	D;D;D;D|.|.	0.91635|.|.	0.994;0.999;0.994;0.98|.|.	T|.|T	0.74266|.|0.74266	-0.3721|.|-0.3721	10|.|5	0.87932|0.87932|.	D|D|.	0|0|.	-18.1895|-18.1895|-18.1895	14.2867|14.2867|14.2867	0.66251|0.66251|0.66251	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.|.	881;871;877;871|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	D|X|I	50;871;875;882;838;871;877|520|71	ENSP00000325581:E871D;ENSP00000333940:E875D;ENSP00000400401:E871D;ENSP00000398481:E877D|.|.	ENSP00000325581:E871D|ENSP00000380833:E520X|.	E|E|R	-|-|-	3|1|2	2|0|0	CADPS2|CADPS2|CADPS2	121834945|121834945|121834945	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.977000|0.977000|0.977000	0.68977|0.68977|0.68977	2.086000|2.086000|2.086000	0.41643|0.41643|0.41643	1.298000|1.298000|1.298000	0.44778|0.44778|0.44778	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		PASS	0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		15	25	15	25	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635373	122635373	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:122635373T>C	ENST00000249284.2	-	1	381	c.316A>G	c.(316-318)Aag>Gag	p.K106E		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	106					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.K106E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAGAGACCTTGATGCAGTAG	0.378																																						uc003vkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)AAG>GAG		taste receptor T2R16							80.0	78.0	79.0					7																	122635373		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635373T>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.316A>G	7.37:g.122635373T>C	ENSP00000249284:p.Lys106Glu						p.K106E	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	382	-			106			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.316A>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.734289	0.48939	.	.	ENSG00000128519	ENST00000249284	T	0.01705	4.68	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	M	0.88241	2.94	0.37006	D	0.895481	D	0.89917	1.0	D	0.97110	1.0	T	0.01111	-1.1448	10	0.87932	D	0	.	10.2186	0.43184	0.0:0.0:0.0:1.0	.	106	Q9NYV7	T2R16_HUMAN	E	106	ENSP00000249284:K106E	ENSP00000249284:K106E	K	-	1	0	TAS2R16	122422609	0.902000	0.30710	0.990000	0.47175	0.140000	0.21249	2.704000	0.47118	1.982000	0.57802	0.533000	0.62120	AAG		PASS	0.378	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		18	39	18	39	---	---	---	---
METTL2B	55798	broad.mit.edu	37	7	128141953	128141953	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:128141953C>G	ENST00000262432.8	+	9	1157	c.1120C>G	c.(1120-1122)Ctg>Gtg	p.L374V	METTL2B_ENST00000480046.1_Missense_Mutation_p.L309V	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	374					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.L374V(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAAGCCCCTTCTGTCCAGCAC	0.507																																						uc003vnf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1120-1122)CTG>GTG		methyltransferase like 2B							151.0	155.0	154.0					7																	128141953		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128141953C>G	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.1120C>G	7.37:g.128141953C>G	ENSP00000262432:p.Leu374Val					METTL2B_uc003vng.2_Missense_Mutation_p.L309V|METTL2B_uc011kop.1_Missense_Mutation_p.L238V	p.L374V	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			9	1157	+			374					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.1120C>G	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128135	0.20959	.	.	ENSG00000165055	ENST00000262432;ENST00000480046	T;T	0.11495	2.77;2.77	3.44	-4.1	0.03940	.	2.575240	0.01558	N	0.019985	T	0.08133	0.0203	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.33033	-0.9884	10	0.11182	T	0.66	-7.397	6.8325	0.23917	0.0:0.1922:0.6016:0.2062	.	309;374	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	V	374;309	ENSP00000262432:L374V;ENSP00000418402:L309V	ENSP00000262432:L374V	L	+	1	2	METTL2B	127929189	0.000000	0.05858	0.000000	0.03702	0.791000	0.44710	-1.780000	0.01775	-0.732000	0.04856	0.195000	0.17529	CTG		PASS	0.507	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		59	108	59	108	---	---	---	---
FAM71F1	84691	broad.mit.edu	37	7	128359064	128359064	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:128359064C>G	ENST00000315184.5	+	3	667	c.614C>G	c.(613-615)aCc>aGc	p.T205S	FAM71F1_ENST00000485070.1_Missense_Mutation_p.T106S|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	205								p.T205S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCCATCACCACCAAAGACCCT	0.507																																						uc003vno.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(613-615)ACC>AGC		testes development-related NYD-SP18							135.0	122.0	126.0					7																	128359064		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128359064C>G	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.614C>G	7.37:g.128359064C>G	ENSP00000326652:p.Thr205Ser					FAM71F1_uc010llo.1_Missense_Mutation_p.T106S|FAM71F1_uc011koq.1_Missense_Mutation_p.T97S|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T106S|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T205S	p.T205S	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			3	667	+			205					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.614C>G	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757558	0.69648	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.18657	2.2;2.2;2.2	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000024	T	0.41166	0.1147	M	0.71581	2.175	0.31495	N	0.665533	D;P;D;D;D	0.76494	0.992;0.867;0.998;0.999;0.999	D;B;D;D;D	0.80764	0.987;0.355;0.994;0.992;0.992	T	0.33979	-0.9847	10	0.15499	T	0.54	-18.7094	13.2795	0.60207	0.0:1.0:0.0:0.0	.	97;205;205;205;106	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	S	106;205;61	ENSP00000418192:T106S;ENSP00000326652:T205S;ENSP00000417930:T61S	ENSP00000326652:T205S	T	+	2	0	FAM71F1	128146300	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	1.721000	0.38032	2.604000	0.88044	0.585000	0.79938	ACC		PASS	0.507	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		34	74	34	74	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131864554	131864554	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:131864554C>A	ENST00000359827.3	-	20	4728	c.3766G>T	c.(3766-3768)Gtg>Ttg	p.V1256L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V1256L			Q9HCM2	PLXA4_HUMAN	plexin A4	1256					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V1256L(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAATGAGCACGGCCACGATG	0.622																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3766-3768)GTG>TTG		plexin A4 isoform 1							37.0	38.0	37.0					7																	131864554		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131864554C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3766G>T	7.37:g.131864554C>A	ENSP00000352882:p.Val1256Leu						p.V1256L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	3995	-			1256			Helical; (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3766G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344868	0.82022	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00912	5.55;5.55	4.92	4.92	0.64577	.	0.111064	0.64402	D	0.000008	T	0.02304	0.0071	N	0.21240	0.645	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76982	-0.2757	10	0.11485	T	0.65	.	18.3041	0.90175	0.0:1.0:0.0:0.0	.	1256	Q9HCM2	PLXA4_HUMAN	L	1256	ENSP00000323194:V1256L;ENSP00000352882:V1256L	ENSP00000323194:V1256L	V	-	1	0	PLXNA4	131515094	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	5.889000	0.69766	2.582000	0.87167	0.484000	0.47621	GTG		PASS	0.622	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	11	6	11	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149191588	149191588	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:149191588G>A	ENST00000340622.3	-	2	311	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	ZNF746_ENST00000461958.2_Missense_Mutation_p.P11S|ZNF746_ENST00000458143.2_Missense_Mutation_p.P11S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	11					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P11S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATCGTCCACGGAGAAATCTTT	0.547																																						uc003wfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(31-33)CCG>TCG		zinc finger protein 746 isoform 2							52.0	53.0	53.0					7																	149191588		2203	4300	6503	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191588G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.31C>T	7.37:g.149191588G>A	ENSP00000345140:p.Pro11Ser					ZNF746_uc010lpi.2_Missense_Mutation_p.P11S	p.P11S	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	302	-	Melanoma(164;0.165)		11					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.31C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851529	0.51270	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08008	3.16;3.14	4.4	4.4	0.53042	.	0.148186	0.31335	N	0.007830	T	0.17619	0.0423	L	0.36672	1.1	0.35444	D	0.795139	D;D	0.63046	0.975;0.992	P;D	0.72075	0.883;0.976	T	0.12785	-1.0534	10	0.35671	T	0.21	-17.5648	12.4862	0.55874	0.0:0.0:1.0:0.0	.	11;11	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	S	11	ENSP00000345140:P11S;ENSP00000395007:P11S	ENSP00000345140:P11S	P	-	1	0	ZNF746	148822521	0.994000	0.37717	0.994000	0.49952	0.787000	0.44495	3.213000	0.51153	2.000000	0.58554	0.514000	0.50259	CCG		PASS	0.547	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		21	53	21	53	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150171512	150171512	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:150171512G>C	ENST00000307271.3	+	4	1669	c.1095G>C	c.(1093-1095)agG>agC	p.R365S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	365	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.R365S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTCTTACCAGGAAAGAAGATT	0.383																																						uc003whj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1093-1095)AGG>AGC		GTPase, IMAP family member 8							114.0	124.0	121.0					7																	150171512		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171512G>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1095G>C	7.37:g.150171512G>C	ENSP00000305107:p.Arg365Ser						p.R365S	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1425	+			365						Missense_Mutation	SNP	ENST00000307271.3	37	c.1095G>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846116	0.32606	.	.	ENSG00000171115	ENST00000307271	T	0.61980	0.06	4.47	2.66	0.31614	AIG1 (1);	0.000000	0.50627	D	0.000118	T	0.78355	0.4270	M	0.90542	3.125	0.20703	N	0.999865	D	0.89917	1.0	D	0.87578	0.998	T	0.66728	-0.5850	10	0.41790	T	0.15	.	6.7441	0.23453	0.2143:0.0:0.7857:0.0	.	365	Q8ND71	GIMA8_HUMAN	S	365	ENSP00000305107:R365S	ENSP00000305107:R365S	R	+	3	2	GIMAP8	149802445	0.000000	0.05858	0.955000	0.39395	0.143000	0.21401	-1.040000	0.03546	0.532000	0.28657	0.650000	0.86243	AGG		PASS	0.383	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		46	85	46	85	---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151699823	151699823	+	Missense_Mutation	SNP	G	G	T	rs149988530		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:151699823G>T	ENST00000392800.2	+	6	937	c.683G>T	c.(682-684)aGc>aTc	p.S228I	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.S228I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	228	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.S228I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTCCTGGACAGCCACTGTGAG	0.502																																						uc003wkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(682-684)AGC>ATC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							84.0	78.0	80.0					7																	151699823		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151699823G>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.683G>T	7.37:g.151699823G>T	ENSP00000376548:p.Ser228Ile					GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.S117I	p.S228I	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	6	906	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	228			Catalytic subdomain A.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.683G>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391875	0.83011	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.62232	0.04;0.04	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.000000	0.56097	D	0.000030	D	0.86711	0.5998	H	0.98883	4.36	0.51012	D	0.999907	D	0.89917	1.0	D	0.81914	0.995	D	0.90978	0.4825	10	0.87932	D	0	.	13.2335	0.59957	0.0:0.1593:0.8407:0.0	.	228	Q7Z4T8	GLTL5_HUMAN	I	228	ENSP00000392582:S228I;ENSP00000376548:S228I	ENSP00000376548:S228I	S	+	2	0	GALNTL5	151330756	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.267000	0.95665	2.673000	0.90976	0.650000	0.86243	AGC		PASS	0.502	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		15	19	15	19	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157926395	157926395	+	Silent	SNP	C	C	T	rs188565967		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:157926395C>T	ENST00000389418.4	-	9	1539	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	PTPRN2_ENST00000409483.1_Silent_p.A472A|PTPRN2_ENST00000389416.4_Silent_p.A493A|PTPRN2_ENST00000389413.3_Silent_p.A510A|PTPRN2_ENST00000404321.2_Silent_p.A533A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	510					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A510A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGTAGCCCCGCGCCTCTTCCT	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15771	0.0		0.0	False		,,,				2504	0.0					uc003wno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1528-1530)GCG>GCA		protein tyrosine phosphatase, receptor type, N							59.0	62.0	61.0					7																	157926395		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926395C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1530G>A	7.37:g.157926395C>T						PTPRN2_uc003wnp.2_Silent_p.A493A|PTPRN2_uc003wnq.2_Silent_p.A510A|PTPRN2_uc003wnr.2_Silent_p.A472A|PTPRN2_uc011kwa.1_Silent_p.A533A	p.A510A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1651	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	510			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1530G>A	CCDS5947.1																																																																																				PASS	0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			23	42	23	42	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21937755	21937755	+	Splice_Site	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:21937755G>C	ENST00000523266.1	+	11	1362	c.900G>C	c.(898-900)cgG>cgC	p.R300R	DMTN_ENST00000415253.1_Splice_Site_p.R300R|DMTN_ENST00000519907.1_Splice_Site_p.R300R|DMTN_ENST00000517600.1_Splice_Site_p.R260R|DMTN_ENST00000381470.3_Splice_Site_p.R300R|DMTN_ENST00000523782.2_Splice_Site_p.R275R|DMTN_ENST00000432128.1_Splice_Site_p.R300R|DMTN_ENST00000443491.2_Splice_Site_p.R275R|DMTN_ENST00000358242.3_Splice_Site_p.R300R|DMTN_ENST00000265800.5_Splice_Site_p.R300R	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	300	Interaction with RASGRF2.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)	p.R300R(1)									CCCTGAGCCGGGTAAGGTCTC	0.587																																						uc011kyt.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(898-900)CGG>CGC		erythrocyte membrane protein band 4.9 isoform 1							86.0	80.0	82.0					8																	21937755		2203	4300	6503	SO:0001630	splice_region_variant	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21937755G>C	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.900+1G>C	8.37:g.21937755G>C						EPB49_uc010ltl.2_Silent_p.R300R|EPB49_uc011kys.1_Silent_p.R260R|EPB49_uc010ltn.2_Silent_p.R275R|EPB49_uc011kyu.1_Silent_p.R300R|EPB49_uc011kyv.1_Silent_p.R300R|EPB49_uc010ltq.2_Silent_p.R300R	p.R300R	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	11	1129	+			300			Interaction with RASGRF2.		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.900G>C	CCDS6020.1																																																																																				PASS	0.587	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978	Silent	39	47	39	47	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32463185	32463185	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:32463185C>A	ENST00000405005.3	+	3	384	c.384C>A	c.(382-384)acC>acA	p.T128T	NRG1_ENST00000521670.1_Silent_p.T128T|NRG1_ENST00000523079.1_Silent_p.T128T|NRG1_ENST00000356819.4_Silent_p.T128T|NRG1_ENST00000341377.5_Silent_p.T128T|NRG1_ENST00000520407.1_Silent_p.T343T|NRG1_ENST00000519301.1_Silent_p.T107T|NRG1_ENST00000287842.3_Silent_p.T128T|NRG1_ENST00000338921.4_Silent_p.T128T|NRG1_ENST00000287845.5_Silent_p.T128T			Q02297	NRG1_HUMAN	neuregulin 1	128	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.T128T(2)|p.T343T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAATATCACCATCGTGGAAT	0.403																																						uc003xiv.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(382-384)ACC>ACA		neuregulin 1 isoform HRG-alpha							168.0	150.0	156.0					8																	32463185		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32463185C>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.384C>A	8.37:g.32463185C>A						NRG1_uc003xip.2_Silent_p.T343T|NRG1_uc003xir.2_Silent_p.T128T|NRG1_uc010lvl.2_Silent_p.T128T|NRG1_uc010lvm.2_Silent_p.T128T|NRG1_uc010lvn.2_Silent_p.T128T|NRG1_uc003xis.2_Silent_p.T128T|NRG1_uc011lbf.1_Silent_p.T128T|NRG1_uc010lvo.2_Silent_p.T128T|NRG1_uc003xiu.2_Silent_p.T128T|NRG1_uc003xiw.2_Silent_p.T128T|NRG1_uc003xit.2_Silent_p.T128T|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.T94T|NRG1_uc010lvq.2_Silent_p.T94T|NRG1_uc003xix.2_Silent_p.T18T	p.T128T	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	3	901	+		Breast(100;0.203)	128			Extracellular (Potential).|Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.384C>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	4.926	0.172138	0.09391	.	.	ENSG00000157168	ENST00000518206	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.63663	0.2530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61033	-0.7144	4	.	.	.	0.0	12.1331	0.53955	0.0:0.9216:0.0:0.0784	.	.	.	.	Q	7	.	.	P	+	2	0	NRG1	32582727	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.816000	0.38992	2.616000	0.88540	0.650000	0.86243	CCA		PASS	0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	64	5	64	---	---	---	---
C8orf22	492307	broad.mit.edu	37	8	49985441	49985441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:49985441C>T	ENST00000303202.8	+	2	225	c.52C>T	c.(52-54)Cga>Tga	p.R18*	C8orf22_ENST00000517663.1_Nonsense_Mutation_p.R18*|C8orf22_ENST00000399653.4_Nonsense_Mutation_p.R18*|C8orf22_ENST00000522267.1_Nonsense_Mutation_p.R18*	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.R18*(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCAGTATTATCGAAGTAAGTT	0.413																																						uc003xqq.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(52-54)CGA>TGA		hypothetical protein LOC492307							180.0	168.0	171.0					8																	49985441		1894	4125	6019	SO:0001587	stop_gained	492307							g.chr8:49985441C>T	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.52C>T	8.37:g.49985441C>T	ENSP00000304926:p.Arg18*						p.R18*	NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN			2	235	+		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	18					G3V137|Q8WVI1	Nonsense_Mutation	SNP	ENST00000303202.8	37	c.52C>T	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754310	0.69648	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.36	2.45	0.29901	.	0.000000	0.35207	U	0.003367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.5651	5.4386	0.16496	0.1953:0.6966:0.0:0.1081	.	.	.	.	X	18	.	.	R	+	1	2	C8orf22	50147994	0.996000	0.38824	0.995000	0.50966	0.147000	0.21601	0.226000	0.17776	0.833000	0.34828	-0.251000	0.11542	CGA		PASS	0.413	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		69	69	69	69	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52773466	52773466	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:52773466C>G	ENST00000360540.5	-	3	652	c.246G>C	c.(244-246)ttG>ttC	p.L82F	PCMTD1_ENST00000521344.1_Missense_Mutation_p.L82F|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.L82F|PCMTD1_ENST00000544451.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	82						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.L82F(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)				TAAGAAAAGACAATCCTGGTT	0.338																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)TTG>TTC		protein-L-isoaspartate (D-aspartate)							90.0	87.0	88.0					8																	52773466		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773466C>G		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.246G>C	8.37:g.52773466C>G	ENSP00000353739:p.Leu82Phe					PCMTD1_uc003xqw.3_Missense_Mutation_p.L82F|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.L82F	p.L82F	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			2	587	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	82					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.246G>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036546	0.54896	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.49720	0.77;0.77;0.95	5.48	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.79475	2.455	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.64385	-0.6420	10	0.59425	D	0.04	-30.9372	10.7337	0.46111	0.0:0.731:0.0:0.269	.	82	Q96MG8	PCMD1_HUMAN	F	82	ENSP00000353739:L82F;ENSP00000428099:L82F;ENSP00000430168:L82F	ENSP00000353739:L82F	L	-	3	2	PCMTD1	52936019	0.439000	0.25610	1.000000	0.80357	0.998000	0.95712	-0.242000	0.08928	0.192000	0.20272	0.650000	0.86243	TTG		PASS	0.338	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		25	23	25	23	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69699678	69699678	+	Splice_Site	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:69699678G>C	ENST00000539993.1	+	12	1747	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H	C8orf34_ENST00000518698.1_Splice_Site_p.D486H|C8orf34_ENST00000337103.4_Splice_Site_p.D375H|C8orf34_ENST00000325233.3_Splice_Site_p.D144H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	400								p.D375H(1)|p.D400H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTTTTGCAGGATGAATCCTT	0.348																																						uc010lyz.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1198-1200)GAT>CAT		hypothetical protein LOC116328							104.0	99.0	101.0					8																	69699678		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69699678G>C	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1198-1G>C	8.37:g.69699678G>C						C8orf34_uc003xyb.2_Missense_Mutation_p.D375H	p.D400H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		12	1247	+			400					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1198G>C		.	.	.	.	.	.	.	.	.	.	G	14.78	2.638740	0.47153	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.59224	0.29;0.36;0.34;0.28	5.23	5.23	0.72850	.	0.252743	0.37437	N	0.002098	T	0.63034	0.2477	L	0.34521	1.04	0.58432	D	0.999998	D	0.65815	0.995	P	0.61132	0.884	T	0.59804	-0.7385	9	.	.	.	-16.4246	16.0751	0.80962	0.0:0.0:1.0:0.0	.	400	Q49A92	CH034_HUMAN	H	486;400;375;144	ENSP00000427820:D486H;ENSP00000438159:D400H;ENSP00000337174:D375H;ENSP00000319532:D144H	.	D	+	1	0	C8orf34	69862232	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	5.973000	0.70456	2.588000	0.87417	0.561000	0.74099	GAT		PASS	0.348	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Missense_Mutation	8	22	8	22	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77776369	77776369	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:77776369G>T	ENST00000521891.2	+	11	10867	c.10419G>T	c.(10417-10419)gaG>gaT	p.E3473D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3428D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3424D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3447D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3424	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E3457D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCACAAAGAGAAAACAATCA	0.448										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(10282-10284)GAG>GAT		zinc finger homeodomain 4							110.0	106.0	107.0					8																	77776369		2073	4208	6281	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77776369G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10419G>T	8.37:g.77776369G>T	ENSP00000430497:p.Glu3473Asp	HNSCC(33;0.089)					p.E3428D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10671	+			3424					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.10284G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233151	0.39498	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.75	4.75	0.60458	.	0.000000	0.44902	U	0.000406	T	0.50956	0.1646	M	0.62723	1.935	0.58432	D	0.999993	P	0.51240	0.943	P	0.48400	0.576	T	0.55328	-0.8158	10	0.51188	T	0.08	.	17.964	0.89094	0.0:0.0:1.0:0.0	.	3428	Q86UP3-4	.	D	3473;3457;3428;3424;3447	ENSP00000430497:E3473D;ENSP00000399605:E3428D;ENSP00000050961:E3424D;ENSP00000430848:E3447D	ENSP00000050961:E3424D	E	+	3	2	ZFHX4	77938924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.417000	0.73337	2.482000	0.83794	0.650000	0.86243	GAG		PASS	0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		53	55	53	55	---	---	---	---
ZFAND1	79752	broad.mit.edu	37	8	82630427	82630427	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:82630427C>T	ENST00000220669.5	-	2	106	c.88G>A	c.(88-90)Gga>Aga	p.G30R	ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Missense_Mutation_p.G30R|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.G30R	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	30							zinc ion binding (GO:0008270)	p.G30R(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAAAATATTCCTGAACAATCA	0.264																																						uc003ycj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)GGA>AGA		zinc finger, AN1-type domain 1							86.0	86.0	86.0					8																	82630427		2202	4298	6500	SO:0001583	missense	79752						zinc ion binding	g.chr8:82630427C>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.88G>A	8.37:g.82630427C>T	ENSP00000220669:p.Gly30Arg					ZFAND1_uc010lzx.1_Missense_Mutation_p.G30R|ZFAND1_uc003yck.1_5'UTR	p.G30R	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			2	102	-			30			AN1-type 1.		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.88G>A	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235578	0.79800	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	T;T;T	0.42900	0.96;0.96;0.96	5.83	4.95	0.65309	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.959;0.988	T	0.59752	-0.7395	10	0.19590	T	0.45	.	16.0505	0.80760	0.1353:0.8647:0.0:0.0	.	30;30	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	R	30	ENSP00000430736:G30R;ENSP00000220669:G30R;ENSP00000429167:G30R	ENSP00000220669:G30R	G	-	1	0	ZFAND1	82792982	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.095000	0.64529	1.457000	0.47850	0.561000	0.74099	GGA		PASS	0.264	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		10	36	10	36	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885761	88885761	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:88885761C>A	ENST00000319675.3	-	1	535	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	147								p.V147L(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCAAGTCCCACGAAGCACAGC	0.542																																						uc003ydz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)GTG>TTG		WD repeat domain 21C							94.0	88.0	90.0					8																	88885761		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885761C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.439G>T	8.37:g.88885761C>A	ENSP00000316496:p.Val147Leu						p.V147L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	536	-			147						Missense_Mutation	SNP	ENST00000319675.3	37	c.439G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984162	0.02180	.	.	ENSG00000176566	ENST00000319675	T	0.70399	-0.48	1.68	-3.35	0.04928	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.231946	0.52532	N	0.000079	T	0.44767	0.1309	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.16041	-1.0416	10	0.24483	T	0.36	.	3.5905	0.07986	0.0:0.1977:0.397:0.4053	.	147	Q8NA75	DC4L2_HUMAN	L	147	ENSP00000316496:V147L	ENSP00000316496:V147L	V	-	1	0	DCAF4L2	88954877	1.000000	0.71417	0.004000	0.12327	0.073000	0.16967	1.069000	0.30641	-1.604000	0.01595	-0.373000	0.07131	GTG		PASS	0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		43	28	43	28	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885967	88885967	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:88885967A>G	ENST00000319675.3	-	1	329	c.233T>C	c.(232-234)cTg>cCg	p.L78P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	78								p.L78P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTATTCGCCAGTATGCGGTT	0.542																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)CTG>CCG		WD repeat domain 21C							154.0	141.0	145.0					8																	88885967		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885967A>G	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.233T>C	8.37:g.88885967A>G	ENSP00000316496:p.Leu78Pro						p.L78P	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	330	-			78						Missense_Mutation	SNP	ENST00000319675.3	37	c.233T>C	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036335	0.35893	.	.	ENSG00000176566	ENST00000319675	T	0.79454	-1.27	1.92	1.92	0.25849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.306946	0.35262	N	0.003338	T	0.75302	0.3831	L	0.57536	1.79	0.46376	D	0.999016	P	0.49090	0.919	P	0.50617	0.646	T	0.72272	-0.4342	10	0.56958	D	0.05	.	4.2178	0.10544	0.694:0.0:0.0:0.306	.	78	Q8NA75	DC4L2_HUMAN	P	78	ENSP00000316496:L78P	ENSP00000316496:L78P	L	-	2	0	DCAF4L2	88955083	0.999000	0.42202	0.014000	0.15608	0.142000	0.21351	0.174000	0.16743	0.627000	0.30340	0.383000	0.25322	CTG		PASS	0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		52	54	52	54	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109226865	109226865	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:109226865G>A	ENST00000220849.5	-	10	1094	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Silent_p.F251F	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.F344F(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)			GGATGCGACAGAAAGTCTCAA	0.353																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1030-1032)TTC>TTT		eukaryotic translation initiation factor 3,							86.0	83.0	84.0					8																	109226865		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:109226865G>A	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.1032C>T	8.37:g.109226865G>A						EIF3E_uc003ymt.2_Silent_p.F295F|EIF3E_uc003ymv.2_Silent_p.F251F|EIF3E_uc010mci.1_Intron	p.F344F	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		10	1060	-			344			PCI.			Silent	SNP	ENST00000220849.5	37	c.1032C>T	CCDS6308.1																																																																																				PASS	0.353	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		31	36	31	36	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113240998	113240999	+	Nonsense_Mutation	DNP	GA	GA	AT			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:113240998_113240999GA>AT	ENST00000297405.5	-	70	11194_11195	c.10950_10951TC>AT	c.(10948-10953)taTCtt>taATtt	p.3650_3651YL>*F	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.3610_3611YL>*F|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.3481_3482YL>*F|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.3580_3581YL>*F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3650						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y3610*(1)|p.Y3610_L3611>*(1)|p.L3611F(1)|p.L3651F(1)|p.Y3650*(1)|p.Y3650_L3651>*(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						TGTTTATAAAGATAAAATCCAA	0.302										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			6	Substitution - Missense(2)|Substitution - Nonsense(2)|Complex - deletion inframe(2)		lung(6)	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.(10951-10953)CTT>TTT|c.(10948-10950)TAT>TAA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113240998G>A|g.chr8:113240999A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10950_10951delinsAT	8.37:g.113240998_113240999delinsAT	ENSP00000297405:p.Y3650_L3651delins*F	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2853F|CSMD3_uc003ynt.2_Missense_Mutation_p.L3611F|CSMD3_uc011lhx.1_Missense_Mutation_p.L3482F|CSMD3_uc003yns.2_Nonsense_Mutation_p.Y2852*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y3610*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y3481*	p.L3651F|p.Y3650*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	11110|11109	-			3651|3650			Helical; (Potential).		Q96PZ3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10951C>T|c.10950T>A	CCDS6315.1																																																																																				PASS	0.302	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21|23	29|28	21	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564935	113564935	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:113564935G>A	ENST00000297405.5	-	26	4493	c.4249C>T	c.(4249-4251)Cgt>Tgt	p.R1417C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R1377C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1313C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1417C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1417	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1417C(1)|p.R1377C(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						CCTTTAAAACGACCTCCACAT	0.353										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.(4249-4251)CGT>TGT		CUB and Sushi multiple domains 3 isoform 1							72.0	69.0	70.0					8																	113564935		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113564935G>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.4249C>T	8.37:g.113564935G>A	ENSP00000297405:p.Arg1417Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R689C|CSMD3_uc003ynt.2_Missense_Mutation_p.R1377C|CSMD3_uc011lhx.1_Missense_Mutation_p.R1313C	p.R1417C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4408	-			1417			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4249C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683894	0.68157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.93	4.93	0.64822	CUB (5);	0.073365	0.56097	D	0.000033	T	0.44498	0.1296	M	0.64080	1.96	0.46901	D	0.999245	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.67725	0.921;0.953;0.862	T	0.30327	-0.9982	10	0.56958	D	0.05	.	18.6873	0.91570	0.0:0.0:1.0:0.0	.	1313;1417;1377	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1377;1417;757;1313;1417	ENSP00000345799:R1377C;ENSP00000297405:R1417C;ENSP00000341558:R757C;ENSP00000412263:R1313C;ENSP00000343124:R1417C	ENSP00000297405:R1417C	R	-	1	0	CSMD3	113634111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.139000	0.64801	2.719000	0.93026	0.655000	0.94253	CGT		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	45	11	45	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123965654	123965654	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:123965654A>G	ENST00000314393.4	+	3	2739	c.1904A>G	c.(1903-1905)aAa>aGa	p.K635R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	635					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K635R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAATTGCAAAAAGTCAAGAA	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1903-1905)AAA>AGA		zinc fingers and homeoboxes 2							74.0	76.0	75.0					8																	123965654		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965654A>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1904A>G	8.37:g.123965654A>G	ENSP00000314709:p.Lys635Arg						p.K635R	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2471	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		635			Homeobox 4.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1904A>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	2.225	-0.377595	0.05000	.	.	ENSG00000178764	ENST00000314393	D	0.91996	-2.95	5.94	4.76	0.60689	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.671525	0.15356	N	0.266698	D	0.88459	0.6442	L	0.53617	1.68	0.09310	N	1	B	0.12630	0.006	B	0.18871	0.023	T	0.79647	-0.1716	10	0.51188	T	0.08	-4.7207	5.7754	0.18277	0.717:0.1454:0.1376:0.0	.	635	Q9Y6X8	ZHX2_HUMAN	R	635	ENSP00000314709:K635R	ENSP00000314709:K635R	K	+	2	0	ZHX2	124034835	0.472000	0.25870	0.647000	0.29507	0.356000	0.29392	2.557000	0.45871	1.044000	0.40200	0.459000	0.35465	AAA		PASS	0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		22	78	22	78	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131812772	131812772	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:131812772G>T	ENST00000286355.5	-	15	5052	c.2960C>A	c.(2959-2961)tCc>tAc	p.S987Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.S856Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	987					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.S987Y(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)			TCCTGGGATGGAGGCAAACAT	0.493										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2959-2961)TCC>TAC		adenylate cyclase 8							149.0	131.0	137.0					8																	131812772		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.chr8:131812772G>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.2960C>A	8.37:g.131812772G>T	ENSP00000286355:p.Ser987Tyr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.S856Y	p.S987Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	3216	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		987			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2960C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083673	0.55861	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.31247	1.5;1.5	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.054237	0.85682	D	0.000000	T	0.62332	0.2419	M	0.87547	2.89	0.39640	D	0.97031	D;D	0.71674	0.997;0.998	D;D	0.74348	0.972;0.983	T	0.71122	-0.4684	10	0.87932	D	0	.	17.9591	0.89079	0.0:0.0:1.0:0.0	.	856;987	E7EVL1;P40145	.;ADCY8_HUMAN	Y	987;856	ENSP00000286355:S987Y;ENSP00000367161:S856Y	ENSP00000286355:S987Y	S	-	2	0	ADCY8	131881954	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.951000	0.87819	2.468000	0.83385	0.557000	0.71058	TCC		PASS	0.493	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			61	58	61	58	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139160773	139160773	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:139160773A>T	ENST00000395297.1	-	14	3608	c.3438T>A	c.(3436-3438)caT>caA	p.H1146Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1146								p.H1146Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCCAGGCCATGGACACAGA	0.348										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3436-3438)CAT>CAA		hypothetical protein LOC51059							134.0	117.0	123.0					8																	139160773		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160773A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3438T>A	8.37:g.139160773A>T	ENSP00000378710:p.His1146Gln	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.H1047Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H708Q|FAM135B_uc003yvb.2_Missense_Mutation_p.W674R	p.H1146Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3609	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1146					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3438T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182550	0.38511	.	.	ENSG00000147724	ENST00000395297	T	0.73789	-0.78	5.96	2.18	0.27775	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	D	0.88746	0.6520	H	0.95850	3.73	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88699	0.3214	10	0.87932	D	0	-18.3122	9.6894	0.40118	0.7975:0.0:0.2025:0.0	.	1146;1146	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	Q	1146	ENSP00000378710:H1146Q	ENSP00000378710:H1146Q	H	-	3	2	FAM135B	139229955	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	0.480000	0.27534	0.528000	0.53228	CAT		PASS	0.348	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		26	24	26	24	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143624780	143624780	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr8:143624780A>G	ENST00000517894.1	+	29	5324	c.4430A>G	c.(4429-4431)tAt>tGt	p.Y1477C	BAI1_ENST00000323289.5_Missense_Mutation_p.Y1477C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1477	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y1477C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AAGTCGCGGTATGCAGAACTG	0.632																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(4429-4431)TAT>TGT		brain-specific angiogenesis inhibitor 1							76.0	92.0	87.0					8																	143624780		2030	4178	6208	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143624780A>G	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4430A>G	8.37:g.143624780A>G	ENSP00000430945:p.Tyr1477Cys						p.Y1477C	NM_001702	NP_001693	O14514	BAI1_HUMAN			28	4613	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1477			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.			Missense_Mutation	SNP	ENST00000517894.1	37	c.4430A>G		.	.	.	.	.	.	.	.	.	.	A	14.36	2.511161	0.44660	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.53423	0.62;0.62	4.42	4.42	0.53409	.	0.000000	0.64402	U	0.000002	T	0.67739	0.2925	M	0.77486	2.375	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.72760	-0.4196	10	0.87932	D	0	.	12.8463	0.57831	1.0:0.0:0.0:0.0	.	1477	E9PBK0	.	C	1477	ENSP00000430945:Y1477C;ENSP00000313046:Y1477C	ENSP00000313046:Y1477C	Y	+	2	0	BAI1	143621782	1.000000	0.71417	0.999000	0.59377	0.567000	0.35839	6.788000	0.75105	1.635000	0.50512	0.459000	0.35465	TAT		PASS	0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		13	19	13	19	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5770270	5770270	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:5770270C>G	ENST00000414202.2	+	23	3799	c.3608C>G	c.(3607-3609)tCt>tGt	p.S1203C	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S1087C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S1124C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.S1124C(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCACCTTTATCTAATAAAGGT	0.393																																						uc003zji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3370-3372)TCT>TGT		connexin 43-interacting protein 150 isoform a							109.0	99.0	102.0					9																	5770270		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5770270C>G																												ENST00000414202.2:c.3608C>G	9.37:g.5770270C>G	ENSP00000416696:p.Ser1203Cys					KIAA1432_uc003zjl.3_Missense_Mutation_p.S1087C|ERMP1_uc011lme.1_Intron	p.S1124C	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	22	3464	+		Acute lymphoblastic leukemia(23;0.154)	1203						Missense_Mutation	SNP	ENST00000414202.2	37	c.3371C>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.774567|1.774567	0.31411|0.31411	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816	.|.	.|.	.|.	5.56|5.56	4.55|4.55	0.56014|0.56014	.|.	.|0.333957	.|0.32161	.|N	.|0.006499	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.17776|0.17776	-1.0358|-1.0358	5|9	.|0.39692	.|T	.|0.17	-6.4035|-6.4035	3.6154|3.6154	0.08075|0.08075	0.0:0.4434:0.0:0.5566|0.0:0.4434:0.0:0.5566	.|.	.|1087;1203	.|B7ZM67;Q4ADV7	.|.;RIC1_HUMAN	M|C	1094|1203;1124;1087;22	.|.	.|ENSP00000416696:S1203C	I|S	+|+	3|2	3|0	KIAA1432|KIAA1432	5760270|5760270	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.397000|2.397000	0.44477|0.44477	1.295000|1.295000	0.44724|0.44724	0.561000|0.561000	0.74099|0.74099	ATC|TCT		PASS	0.393	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			9	65	9	65	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12695754	12695754	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:12695754G>T	ENST00000388918.5	+	3	754	c.625G>T	c.(625-627)Ggt>Tgt	p.G209C	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	209					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G209C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGAAAGCTTTGGTGAAGTGGA	0.433									Oculocutaneous Albinism																													uc003zkv.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(625-627)GGT>TGT		tyrosinase-related protein 1 precursor							88.0	90.0	90.0					9																	12695754		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695754G>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.625G>T	9.37:g.12695754G>T	ENSP00000373570:p.Gly209Cys						p.G209C	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	803	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	209			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.625G>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404626	0.83230	.	.	ENSG00000107165	ENST00000388918	D	0.98345	-4.88	5.26	5.26	0.73747	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.097704	0.64402	D	0.000001	D	0.98682	0.9558	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.99000	1.0811	10	0.42905	T	0.14	-16.6319	19.2418	0.93887	0.0:0.0:1.0:0.0	.	209	P17643	TYRP1_HUMAN	C	209	ENSP00000373570:G209C	ENSP00000373570:G209C	G	+	1	0	TYRP1	12685754	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	6.287000	0.72671	2.623000	0.88846	0.467000	0.42956	GGT		PASS	0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		4	47	4	47	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436420	16436420	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:16436420G>T	ENST00000380672.4	-	6	1829	c.1772C>A	c.(1771-1773)aCc>aAc	p.T591N	BNC2_ENST00000380667.2_Missense_Mutation_p.T524N|BNC2_ENST00000545497.1_Missense_Mutation_p.T496N|BNC2_ENST00000380666.2_Missense_Mutation_p.T591N	NM_017637.5	NP_060107.3			basonuclin 2									p.T591N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGGACTGGTTGGGAGGGA	0.527																																						uc003zml.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1771-1773)ACC>AAC		basonuclin 2							57.0	61.0	60.0					9																	16436420		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436420G>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1772C>A	9.37:g.16436420G>T	ENSP00000370047:p.Thr591Asn					BNC2_uc011lmw.1_Missense_Mutation_p.T496N|BNC2_uc003zmm.2_Missense_Mutation_p.T549N|BNC2_uc003zmq.1_Missense_Mutation_p.T605N|BNC2_uc003zmr.1_Missense_Mutation_p.T628N|BNC2_uc003zmp.1_Missense_Mutation_p.T619N|BNC2_uc010mij.1_Missense_Mutation_p.T513N|BNC2_uc011lmv.1_Missense_Mutation_p.T417N|BNC2_uc003zmo.1_Missense_Mutation_p.T513N|BNC2_uc003zmj.2_Missense_Mutation_p.T356N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.T356N|BNC2_uc003zmn.1_Missense_Mutation_p.T356N	p.T591N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1912	-			591			Pro-rich.			Missense_Mutation	SNP	ENST00000380672.4	37	c.1772C>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624494	0.66901	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.34472	1.37;1.36;1.4;1.39;1.36	6.17	6.17	0.99709	.	0.086182	0.85682	D	0.000000	T	0.53190	0.1781	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.974;0.998;0.999;0.983;0.999;0.998;0.998;0.998;0.998	P;D;D;P;D;D;D;D;D	0.80764	0.669;0.981;0.994;0.798;0.991;0.981;0.987;0.987;0.981	T	0.19418	-1.0306	10	0.15499	T	0.54	-17.2487	20.8794	0.99867	0.0:0.0:1.0:0.0	.	496;524;591;417;591;548;591;496;356	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	N	591;548;524;496;417;591;591	ENSP00000370047:T591N;ENSP00000408370:T548N;ENSP00000370042:T524N;ENSP00000444640:T496N;ENSP00000370041:T591N	ENSP00000370041:T591N	T	-	2	0	BNC2	16426420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ACC		PASS	0.527	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		44	25	44	25	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333994	21333994	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:21333994C>T	ENST00000359039.4	-	1	1385	c.865G>A	c.(865-867)Gat>Aat	p.D289N	KLHL9_ENST00000537938.1_Missense_Mutation_p.D221N			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	289					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.D289N(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCAGTTCTATCTGACTGCATC	0.423																																						uc003zoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(865-867)GAT>AAT		kelch-like 9							159.0	143.0	148.0					9																	21333994		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333994C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.865G>A	9.37:g.21333994C>T	ENSP00000351933:p.Asp289Asn					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.D289N	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1436	-			289					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.865G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921785	0.52653	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.71222	-0.52;-0.55	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.169626	0.49916	D	0.000132	T	0.61540	0.2355	L	0.29908	0.895	0.48975	D	0.999731	B	0.17667	0.023	B	0.22601	0.04	T	0.55296	-0.8163	10	0.30078	T	0.28	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	289	Q9P2J3	KLHL9_HUMAN	N	289;221	ENSP00000351933:D289N;ENSP00000437733:D221N	ENSP00000351933:D289N	D	-	1	0	KLHL9	21323994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.688000	0.91661	0.650000	0.86243	GAT		PASS	0.423	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		7	56	7	56	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33923422	33923422	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:33923422G>T	ENST00000379238.1	-	25	2968	c.2851C>A	c.(2851-2853)Ccc>Acc	p.P951T	UBAP2_ENST00000360802.1_Missense_Mutation_p.P951T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P706T|UBAP2_ENST00000379235.1_Missense_Mutation_p.P190T|UBAP2_ENST00000379239.4_Missense_Mutation_p.P684T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P951T					ubiquitin associated protein 2									p.P951T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCTGGAAGGGAGGTGTGGGA	0.587																																						uc003ztq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2851-2853)CCC>ACC		ubiquitin associated protein 2							282.0	278.0	279.0					9																	33923422		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33923422G>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2851C>A	9.37:g.33923422G>T	ENSP00000368540:p.Pro951Thr					UBAP2_uc011loc.1_Missense_Mutation_p.P860T|UBAP2_uc011lod.1_Missense_Mutation_p.P684T|UBAP2_uc011loe.1_Missense_Mutation_p.P706T|UBAP2_uc011lof.1_Missense_Mutation_p.P876T|UBAP2_uc003ztn.1_Missense_Mutation_p.P190T|UBAP2_uc003zto.1_Missense_Mutation_p.P190T|UBAP2_uc003ztp.1_Missense_Mutation_p.P190T	p.P951T	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	2964	-			951						Missense_Mutation	SNP	ENST00000379238.1	37	c.2851C>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.474001	0.26423	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.45	4.53	0.55603	.	0.090110	0.85682	D	0.000000	T	0.48409	0.1498	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.69078	0.992;0.992;0.997;0.995	P;P;P;P	0.61132	0.813;0.813;0.884;0.769	T	0.52779	-0.8530	10	0.66056	D	0.02	-11.8315	16.8701	0.86038	0.0:0.1287:0.8713:0.0	.	706;684;860;951	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	T	951;951;951;860;190;684;706;385	ENSP00000368540:P951T;ENSP00000416932:P951T;ENSP00000354039:P951T;ENSP00000368537:P190T;ENSP00000368541:P684T;ENSP00000439329:P706T	ENSP00000259602:P385T	P	-	1	0	UBAP2	33913422	1.000000	0.71417	0.891000	0.34965	0.015000	0.08874	8.821000	0.92009	1.587000	0.49959	0.655000	0.94253	CCC		PASS	0.587	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		7	209	7	209	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35736623	35736623	+	IGR	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:35736623G>A	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000353704.2_Missense_Mutation_p.R339Q|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.R339Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCTCTGCCGAGGTCCCATC	0.582											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1015-1017)CGA>CAA		cAMP responsive element binding protein 3							137.0	136.0	137.0					9																	35736623		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736623G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736623G>A			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_uc010mla.2_Missense_Mutation_p.R258Q	p.R339Q	NM_006368	NP_006359	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1469	+	all_epithelial(49;0.167)		363			Lumenal (Potential).|Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1016G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	4.600	0.111447	0.08831	.	.	ENSG00000107175	ENST00000353704	T	0.63096	-0.02	5.87	-2.33	0.06724	.	1.933860	0.02105	N	0.054301	T	0.40040	0.1101	N	0.22421	0.69	0.09310	N	1	P;P	0.51147	0.905;0.942	B;B	0.36335	0.072;0.222	T	0.39121	-0.9629	10	0.19147	T	0.46	.	5.5848	0.17269	0.0:0.3463:0.2532:0.4005	.	363;339	O43889;O43889-2	CREB3_HUMAN;.	Q	339	ENSP00000342136:R339Q	ENSP00000342136:R339Q	R	+	2	0	CREB3	35726623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.391000	0.07323	-0.280000	0.09154	-1.053000	0.02334	CGA		PASS	0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		21	126	21	126	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119249690	119249690	+	Missense_Mutation	SNP	C	C	A	rs16933591	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:119249690C>A	ENST00000313400.4	-	20	3545	c.3445G>T	c.(3445-3447)Gtc>Ttc	p.V1149F	ASTN2_ENST00000341734.4_Missense_Mutation_p.V201F|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1098F|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1145F|ASTN2_ENST00000288520.5_Missense_Mutation_p.V250F|ASTN2_ENST00000361477.3_Missense_Mutation_p.V201F			O75129	ASTN2_HUMAN	astrotactin 2	1149	Fibronectin type-III.		V -> I (in dbSNP:rs16933591).		negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.V1098F(1)|p.V201F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGATACTGACTTCAGGGACC	0.507																																						uc004bjs.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3445-3447)GTC>TTC		astrotactin 2 isoform c							118.0	106.0	110.0					9																	119249690		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249690C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3445G>T	9.37:g.119249690C>A	ENSP00000314038:p.Val1149Phe					ASTN2_uc004bjr.1_Missense_Mutation_p.V1145F|ASTN2_uc004bjt.1_Missense_Mutation_p.V1098F|ASTN2_uc004bjp.1_Missense_Mutation_p.V242F|ASTN2_uc004bjq.1_Missense_Mutation_p.V201F|ASTN2_uc011lxr.1_Missense_Mutation_p.V201F|ASTN2_uc011lxs.1_Missense_Mutation_p.V201F|ASTN2_uc011lxt.1_Missense_Mutation_p.V201F|ASTN2_uc004bjo.1_5'UTR	p.V1149F	NM_198187	NP_937830	O75129	ASTN2_HUMAN			20	3546	-			1149			Extracellular (Potential).|Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3445G>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374168	0.42105	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.49	3.6	0.41247	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.383922	0.28225	N	0.016137	T	0.18923	0.0454	N	0.08118	0	0.29625	P	0.845896	B;B;B;B;B;B;B	0.29805	0.118;0.018;0.001;0.257;0.001;0.018;0.018	B;B;B;B;B;B;B	0.24541	0.034;0.013;0.0;0.054;0.0;0.013;0.007	T	0.12451	-1.0547	9	0.41790	T	0.15	-28.4103	5.7264	0.18015	0.0:0.6328:0.0:0.3672	.	201;201;1098;1149;1145;201;250	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	F	1149;1145;250;201;872;1098;201	ENSP00000314038:V1149F;ENSP00000363108:V1145F;ENSP00000288520:V250F;ENSP00000339925:V201F;ENSP00000363098:V872F;ENSP00000354504:V1098F;ENSP00000355116:V201F	ENSP00000288520:V250F	V	-	1	0	ASTN2	118289511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.748000	0.47483	1.436000	0.47453	0.655000	0.94253	GTC		PASS	0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		40	58	40	58	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130197393	130197393	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:130197393A>G	ENST00000342483.5	+	3	536	c.130A>G	c.(130-132)Acg>Gcg	p.T44A	ZNF79_ENST00000543471.1_Missense_Mutation_p.T20A	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T44A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CAGCAGTGTGACGGTAGCTTT	0.512																																						uc004bqw.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(130-132)ACG>GCG		zinc finger protein 79							149.0	143.0	145.0					9																	130197393		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130197393A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.130A>G	9.37:g.130197393A>G	ENSP00000362446:p.Thr44Ala					ZNF79_uc011maf.1_Missense_Mutation_p.T20A|ZNF79_uc011mag.1_Missense_Mutation_p.T20A	p.T44A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			3	544	+			44			KRAB.		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.130A>G	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	A	1.352	-0.591035	0.03799	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.00634	6.07;6.07	3.3	-0.292	0.12839	Krueppel-associated box (3);	.	.	.	.	T	0.00328	0.0010	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	9	0.02654	T	1	.	5.7021	0.17887	0.6668:0.0:0.3332:0.0	.	44	Q15937	ZNF79_HUMAN	A	44;20	ENSP00000362446:T44A;ENSP00000438418:T20A	ENSP00000362446:T44A	T	+	1	0	ZNF79	129237214	0.030000	0.19436	0.002000	0.10522	0.525000	0.34531	0.112000	0.15479	0.067000	0.16545	0.260000	0.18958	ACG		PASS	0.512	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		39	18	39	18	---	---	---	---
MAN1B1	11253	broad.mit.edu	37	9	140002866	140002866	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:140002866C>T	ENST00000371589.4	+	13	1996	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	MAN1B1_ENST00000474902.1_Silent_p.I344I|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	641					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I641I(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATTCTTCCATCAACAATGTCC	0.602																																						uc004cld.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1921-1923)ATC>ATT		alpha 1,2-mannosidase							111.0	106.0	108.0					9																	140002866		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140002866C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1923C>T	9.37:g.140002866C>T						MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Silent_p.I314I|MAN1B1_uc004clg.1_RNA	p.I641I	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	13	1958	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	641			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1923C>T	CCDS7029.1																																																																																				PASS	0.602	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		8	79	8	79	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140773552	140773552	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:140773552G>A	ENST00000371372.1	+	2	476	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.V111M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V111M|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V111M|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V111M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	111					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.V111M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAACTGCATCGTGCTGGCCCT	0.647																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(331-333)GTG>ATG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						50.0	57.0	54.0					9																	140773552		2158	4266	6424	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140773552G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.331G>A	9.37:g.140773552G>A	ENSP00000360423:p.Val111Met					uc004cof.1_Intron	p.V111M	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	2	476	+	all_cancers(76;0.166)		111			Helical; Name=S1 of repeat I; (Potential).|I.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.331G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833783	0.91036	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000006	D	0.84835	0.5560	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87755	0.2594	10	0.87932	D	0	.	17.2605	0.87068	0.0:0.0:1.0:0.0	.	111	B1AQK6	.	M	111	ENSP00000360423:V111M;ENSP00000277551:V111M;ENSP00000360414:V111M;ENSP00000360408:V111M;ENSP00000360406:V111M	ENSP00000277551:V111M	V	+	1	0	CACNA1B	139893373	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.602000	0.98312	2.057000	0.61298	0.561000	0.74099	GTG		PASS	0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	39	5	39	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12077311	12077311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:12077311T>A	ENST00000356352.2	-	1	585	c.112A>T	c.(112-114)Aaa>Taa	p.K38*	UPF2_ENST00000357604.5_Nonsense_Mutation_p.K38*|UPF2_ENST00000397053.2_Nonsense_Mutation_p.K38*|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	38	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.K38*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATATCGTCTTTTGGCCTCTCC	0.453																																						uc001ila.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(112-114)AAA>TAA		UPF2 regulator of nonsense transcripts homolog							233.0	199.0	211.0					10																	12077311		2203	4300	6503	SO:0001587	stop_gained	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12077311T>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.112A>T	10.37:g.12077311T>A	ENSP00000348708:p.Lys38*					UPF2_uc001ilb.2_Nonsense_Mutation_p.K38*|UPF2_uc001ilc.2_Nonsense_Mutation_p.K38*|UPF2_uc009xiz.1_Nonsense_Mutation_p.K38*	p.K38*	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			1	586	-		Renal(717;0.228)	38			Glu/Lys-rich.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	ENST00000356352.2	37	c.112A>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	36	5.635049	0.96682	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	5.78	5.78	0.91487	.	0.050106	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	.	.	.	X	38	.	ENSP00000313617:K38X	K	-	1	0	UPF2	12117317	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.393000	0.66279	2.333000	0.79357	0.482000	0.46254	AAA		PASS	0.453	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			49	52	49	52	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15600177	15600177	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:15600177G>A	ENST00000378076.3	-	26	3015	c.2662C>T	c.(2662-2664)Cct>Tct	p.P888S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	888					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.P888S(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						CTGAGCTCAGGGGTGTCCTCT	0.458																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(2662-2664)CCT>TCT		integrin, alpha 8 precursor							56.0	56.0	56.0					10																	15600177		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15600177G>A	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.2662C>T	10.37:g.15600177G>A	ENSP00000367316:p.Pro888Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.P873S	p.P888S	NM_003638	NP_003629	P53708	ITA8_HUMAN			26	2662	-			888			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2662C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717546	0.30413	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.41758	0.99	6.06	4.19	0.49359	Integrin alpha-2 (1);	0.199871	0.53938	D	0.000051	T	0.35098	0.0920	L	0.60455	1.87	0.48040	D	0.999575	B;B	0.09022	0.002;0.002	B;B	0.17433	0.01;0.018	T	0.11348	-1.0591	10	0.09338	T	0.73	.	10.0729	0.42343	0.0738:0.136:0.7901:0.0	.	873;888	F5H818;P53708	.;ITA8_HUMAN	S	888;873	ENSP00000367316:P888S	ENSP00000367316:P888S	P	-	1	0	ITGA8	15640183	1.000000	0.71417	0.996000	0.52242	0.637000	0.38172	3.246000	0.51414	0.876000	0.35872	0.643000	0.83706	CCT		PASS	0.458	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		14	17	14	17	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16873262	16873262	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:16873262G>A	ENST00000377833.4	-	65	10582	c.10517C>T	c.(10516-10518)tCa>tTa	p.S3506L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3506	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3506L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGGGTGATGAAGTCCAGAT	0.368																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10516-10518)TCA>TTA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111.0	101.0	104.0					10																	16873262		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873262G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10517C>T	10.37:g.16873262G>A	ENSP00000367064:p.Ser3506Leu						p.S3506L	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10569	-			3506			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10517C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073059	0.76415	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35236	1.32	4.75	4.75	0.60458	CUB (4);	0.449100	0.16536	N	0.210172	T	0.66177	0.2763	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.72663	-0.4225	10	0.87932	D	0	.	17.9226	0.88972	0.0:0.0:1.0:0.0	.	3506	O60494	CUBN_HUMAN	L	3506;347	ENSP00000367064:S3506L	ENSP00000367064:S3506L	S	-	2	0	CUBN	16913268	1.000000	0.71417	0.912000	0.35992	0.542000	0.35054	8.938000	0.92943	2.455000	0.83008	0.561000	0.74099	TCA		PASS	0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	48	5	48	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25886869	25886869	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:25886869G>A	ENST00000376351.3	+	11	2673	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	772					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.E772K(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						GTGCTCTAAAGAGGACAAGGA	0.572																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2314-2316)GAG>AAG		G protein-coupled receptor 158 precursor							83.0	92.0	89.0					10																	25886869		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886869G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2314G>A	10.37:g.25886869G>A	ENSP00000365529:p.Glu772Lys					GPR158_uc001isk.2_Missense_Mutation_p.E147K	p.E772K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2374	+			772			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2314G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893513	0.97074	.	.	ENSG00000151025	ENST00000376351	T	0.63913	-0.07	5.78	5.78	0.91487	.	0.081415	0.51477	D	0.000098	T	0.73908	0.3647	L	0.54323	1.7	0.53005	D	0.999965	P	0.52692	0.955	P	0.57468	0.821	T	0.74518	-0.3639	10	0.66056	D	0.02	.	20.0026	0.97425	0.0:0.0:1.0:0.0	.	772	Q5T848	GP158_HUMAN	K	772	ENSP00000365529:E772K	ENSP00000365529:E772K	E	+	1	0	GPR158	25926875	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.476000	0.97823	2.722000	0.93159	0.650000	0.86243	GAG		PASS	0.572	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		13	117	13	117	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26569943	26569943	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:26569943A>T	ENST00000376261.3	+	12	1666	c.1163A>T	c.(1162-1164)aAc>aTc	p.N388I	GAD2_ENST00000259271.3_Missense_Mutation_p.N388I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	388					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.N388I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTAGGGCCAACTCTGTGACG	0.498																																						uc001isp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1162-1164)AAC>ATC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						176.0	165.0	169.0					10																	26569943		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26569943A>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1163A>T	10.37:g.26569943A>T	ENSP00000365437:p.Asn388Ile					GAD2_uc001isq.2_Missense_Mutation_p.N388I	p.N388I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			12	1666	+			388					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1163A>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468549	0.84533	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.38560	1.13;1.13	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.85462	2.755	0.80722	D	1	D	0.59357	0.985	D	0.65573	0.936	T	0.73626	-0.3923	10	0.87932	D	0	-22.2596	14.58	0.68282	1.0:0.0:0.0:0.0	.	388	Q05329	DCE2_HUMAN	I	388	ENSP00000365437:N388I;ENSP00000259271:N388I	ENSP00000259271:N388I	N	+	2	0	GAD2	26609949	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.905000	0.92613	1.901000	0.55032	0.528000	0.53228	AAC		PASS	0.498	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		34	64	34	64	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26830582	26830582	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:26830582G>A	ENST00000376236.4	+	11	1571	c.1116G>A	c.(1114-1116)atG>atA	p.M372I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.M372I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGCATAAAATGAAATATAAAG	0.303																																						uc001iss.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1114-1116)ATG>ATA		amyloid beta (A4) precursor protein-binding,							76.0	77.0	77.0					10																	26830582		2202	4300	6502	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26830582G>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1116G>A	10.37:g.26830582G>A	ENSP00000365411:p.Met372Ile					APBB1IP_uc009xks.1_Missense_Mutation_p.M372I	p.M372I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			11	1437	+			372			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1116G>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120215	0.20877	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.75050	-0.9	5.87	-0.575	0.11734	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.720808	0.15455	N	0.261420	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.25759	0.063;0.035	T	0.14504	-1.0470	10	0.48119	T	0.1	.	2.9561	0.05877	0.1745:0.104:0.5066:0.2149	.	372;372	B4E100;Q7Z5R6	.;AB1IP_HUMAN	I	372	ENSP00000365411:M372I	ENSP00000365411:M372I	M	+	3	0	APBB1IP	26870588	1.000000	0.71417	0.886000	0.34754	0.739000	0.42172	1.996000	0.40776	-0.268000	0.09312	-0.768000	0.03414	ATG		PASS	0.303	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		9	26	9	26	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30318360	30318360	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:30318360C>T	ENST00000375377.1	-	3	818	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	239					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.E239E(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AACTCAGGCTCTCGGGGGAAA	0.458																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(715-717)GAG>GAA		hypothetical protein LOC57608							143.0	145.0	144.0					10																	30318360		1964	4149	6113	SO:0001819	synonymous_variant	57608							g.chr10:30318360C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.717G>A	10.37:g.30318360C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.E101E|KIAA1462_uc009xle.1_Silent_p.E239E	p.E239E	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	776	-			239					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.717G>A	CCDS41500.1																																																																																				PASS	0.458	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		34	68	34	68	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38407328	38407329	+	Missense_Mutation	DNP	GG	GG	AT	rs375581619		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:38407328_38407329GG>AT	ENST00000361085.5	+	7	1594_1595	c.1249_1250GG>AT	c.(1249-1251)GGg>ATg	p.G417M	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G417M	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	417					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.G417R(2)|p.G417V(2)|p.G417M(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATGAATGTGGGAAGTCATTC	0.366																																						uc001izk.2																			6	Substitution - Missense(6)		lung(6)	breast(1)	1						c.(1249-1251)GGG>AGG|c.(1249-1251)GGG>GTG		zinc finger protein 37a																																				SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407328G>A|g.chr10:38407329G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	Exception_encountered	10.37:g.38407328_38407329delinsAT	ENSP00000354377:p.Gly417Met					ZNF37A_uc001izl.2_Missense_Mutation_p.G417R|ZNF37A_uc001izm.2_Missense_Mutation_p.G417R|ZNF37A_uc001izl.2_Missense_Mutation_p.G417V|ZNF37A_uc001izm.2_Missense_Mutation_p.G417V	p.G417R|p.G417V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2068|2069	+			417			C2H2-type 8.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1249G>A|c.1250G>T	CCDS31183.1																																																																																				PASS	0.366	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		12|13	26|25	12	25	---	---	---	---
VSTM4	196740	broad.mit.edu	37	10	50285339	50285339	+	Missense_Mutation	SNP	C	C	A	rs45489505	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:50285339C>A	ENST00000332853.4	-	4	582	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V187L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGGATCCCCACGCAGCACACG	0.522																																						uc001jhf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GTG>TTG		hypothetical protein LOC196740 isoform 1							130.0	103.0	112.0					10																	50285339		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50285339C>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.559G>T	10.37:g.50285339C>A	ENSP00000331062:p.Val187Leu						p.V187L	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			4	588	-			187			Helical; (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.559G>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	8.160	0.789218	0.16258	.	.	ENSG00000165633	ENST00000332853	T	0.08720	3.06	5.3	-0.201	0.13212	.	0.830491	0.10953	N	0.615868	T	0.06416	0.0165	L	0.33485	1.01	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.35699	-0.9778	10	0.62326	D	0.03	-8.3605	5.6724	0.17729	0.0:0.2954:0.4901:0.2146	.	187	Q8IW00	VSTM4_HUMAN	L	187	ENSP00000331062:V187L	ENSP00000331062:V187L	V	-	1	0	VSTM4	49955345	0.153000	0.22777	0.089000	0.20774	0.739000	0.42172	0.526000	0.22971	0.079000	0.16929	-0.165000	0.13383	GTG		PASS	0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		12	29	12	29	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50824633	50824633	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:50824633C>T	ENST00000337653.2	+	2	525	c.372C>T	c.(370-372)ccC>ccT	p.P124P	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Silent_p.P6P|CHAT_ENST00000339797.1_Silent_p.P6P|CHAT_ENST00000395562.2_Silent_p.P42P|CHAT_ENST00000455728.2_Silent_p.P6P|CHAT_ENST00000395559.2_Silent_p.P6P	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	124					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.P124P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAAAAACTCCCAGCAGTGAGG	0.567																																						uc001jhz.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)	3						c.(370-372)CCC>CCT		choline acetyltransferase isoform 2	Choline(DB00122)						113.0	85.0	94.0					10																	50824633		2202	4300	6502	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50824633C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.372C>T	10.37:g.50824633C>T						CHAT_uc001jhv.1_Silent_p.P6P|CHAT_uc001jhx.1_Silent_p.P6P|CHAT_uc001jhy.1_Silent_p.P6P|CHAT_uc001jia.2_Silent_p.P6P|CHAT_uc010qgs.1_Silent_p.P6P	p.P124P	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	2	525	+		all_neural(218;0.107)	124					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.372C>T	CCDS7232.1																																																																																				PASS	0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		5	10	5	10	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55569209	55569209	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:55569209T>C	ENST00000395445.1	-	36	4995	c.4601A>G	c.(4600-4602)gAg>gGg	p.E1534G	PCDH15_ENST00000395442.1_Missense_Mutation_p.E399G|PCDH15_ENST00000395446.1_Missense_Mutation_p.E730G|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.E468G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTATGTAGGCTCAGCTGCTGG	0.398										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4615-4617)GAG>GGG		protocadherin 15 isoform CD2-1 precursor							197.0	187.0	190.0					10																	55569209		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569209T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4601A>G	10.37:g.55569209T>C	ENSP00000378832:p.Glu1534Gly	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1532G|PCDH15_uc010qhu.1_3'UTR	p.E1539G	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5011	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4616A>G		.	.	.	.	.	.	.	.	.	.	T	16.11	3.030213	0.54790	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.65916	-0.18;0.14;0.29;-0.09	5.88	5.88	0.94601	.	.	.	.	.	T	0.48589	0.1508	N	0.14661	0.345	0.80722	D	1	P;P	0.52463	0.953;0.953	B;B	0.42462	0.388;0.388	T	0.54390	-0.8301	9	0.46703	T	0.11	.	15.9494	0.79820	0.0:0.0:0.0:1.0	.	1532;1534	C6ZEF5;A2A3E2	.;.	G	1534;730;399;468	ENSP00000378832:E1534G;ENSP00000378833:E730G;ENSP00000378829:E399G;ENSP00000378827:E468G	ENSP00000378827:E468G	E	-	2	0	PCDH15	55239215	0.996000	0.38824	0.573000	0.28510	0.678000	0.39670	2.610000	0.46325	2.242000	0.73789	0.533000	0.62120	GAG		PASS	0.398	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		35	45	35	45	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55569211	55569211	+	Silent	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:55569211A>T	ENST00000395445.1	-	36	4993	c.4599T>A	c.(4597-4599)gcT>gcA	p.A1533A	PCDH15_ENST00000395442.1_Silent_p.A398A|PCDH15_ENST00000395446.1_Silent_p.A729A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Silent_p.A467A|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGTAGGCTCAGCTGCTGGTG	0.393										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4612-4614)GCT>GCA		protocadherin 15 isoform CD2-1 precursor							199.0	189.0	192.0					10																	55569211		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569211A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4599T>A	10.37:g.55569211A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.A1531A|PCDH15_uc010qhu.1_3'UTR	p.A1538A	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5009	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.4614T>A																																																																																					PASS	0.393	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		38	49	38	49	---	---	---	---
DDIT4	54541	broad.mit.edu	37	10	74034808	74034808	+	Silent	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:74034808C>G	ENST00000307365.3	+	3	762	c.561C>G	c.(559-561)ccC>ccG	p.P187P	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	187					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.P187P(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GACTCTGGCCCAAGATCCAGG	0.637											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jsx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(559-561)CCC>CCG		RTP801							28.0	30.0	29.0					10																	74034808		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034808C>G	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.561C>G	10.37:g.74034808C>G			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.P187P	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	763	+			187					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.561C>G	CCDS7315.1																																																																																				PASS	0.637	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		6	13	6	13	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973009	85973009	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:85973009G>T	ENST00000372117.3	+	16	2048	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.D649Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.D353Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.D649Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTGGAAGGGACTGCCTATG	0.577																																						uc001kcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1945-1947)GAC>TAC		protocadherin 21 precursor							131.0	120.0	123.0					10																	85973009		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973009G>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1945G>T	10.37:g.85973009G>T	ENSP00000361189:p.Asp649Tyr					CDHR1_uc001kcw.2_Missense_Mutation_p.D649Y|CDHR1_uc009xst.2_Missense_Mutation_p.D353Y|CDHR1_uc001kcx.2_5'UTR	p.D649Y	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			16	1945	+			649			Cadherin 6.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1945G>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078479	0.55753	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.58797	0.31;0.31;0.31	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.232277	0.49916	D	0.000127	T	0.77177	0.4092	M	0.79805	2.47	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.991;0.998	D;D;D	0.71870	0.967;0.927;0.975	T	0.76011	-0.3115	10	0.41790	T	0.15	-10.7152	17.8347	0.88692	0.0:0.0:1.0:0.0	.	353;649;649	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	Y	649;649;353	ENSP00000331063:D649Y;ENSP00000361189:D649Y;ENSP00000415980:D353Y	ENSP00000331063:D649Y	D	+	1	0	CDHR1	85962989	1.000000	0.71417	0.065000	0.19835	0.046000	0.14306	7.504000	0.81646	2.814000	0.96858	0.655000	0.94253	GAC		PASS	0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		24	61	24	61	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88260398	88260398	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:88260398G>C	ENST00000298767.5	-	3	1074	c.602C>G	c.(601-603)gCt>gGt	p.A201G		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	201	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.A201G(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GATTTCAGAAGCCACTGTAGT	0.373																																						uc001kdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)GCT>GGT		wings apart-like homolog							152.0	151.0	151.0					10																	88260398		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260398G>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.602C>G	10.37:g.88260398G>C	ENSP00000298767:p.Ala201Gly					WAPAL_uc001kdn.2_Missense_Mutation_p.A244G|WAPAL_uc009xsw.2_Missense_Mutation_p.A201G	p.A201G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1044	-			201			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.602C>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	5.920	0.353805	0.11182	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.45276	0.9	5.93	2.65	0.31530	.	0.862057	0.10292	N	0.692178	T	0.21761	0.0524	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.02;0.02;0.034	B;B;B	0.22601	0.011;0.018;0.04	T	0.22208	-1.0223	10	0.31617	T	0.26	.	5.3955	0.16266	0.2516:0.1641:0.5843:0.0	.	201;201;244	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	G	286;201;286	ENSP00000298767:A201G	ENSP00000298767:A201G	A	-	2	0	WAPAL	88250378	0.731000	0.28111	0.341000	0.25589	0.646000	0.38490	1.031000	0.30165	0.802000	0.34089	0.655000	0.94253	GCT		PASS	0.373	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		24	36	24	36	---	---	---	---
LIPA	3988	broad.mit.edu	37	10	91005508	91005508	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:91005508G>T	ENST00000336233.5	-	3	476	c.154C>A	c.(154-156)Cta>Ata	p.L52I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.L52I			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	52					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)	p.L52I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTCTCAACTAGGTATTCCTCA	0.418																																						uc001kga.3																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CTA>ATA		lipase A precursor							76.0	79.0	78.0					10																	91005508		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91005508G>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.154C>A	10.37:g.91005508G>T	ENSP00000337354:p.Leu52Ile					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.L52I	p.L52I	NM_000235	NP_000226	P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	3	322	-		Colorectal(252;0.0162)	52					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.154C>A	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022610	0.35701	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.6	-4.44	0.03557	Partial AB-hydrolase lipase domain (1);	.	.	.	.	T	0.48295	0.1492	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.15870	0.014	T	0.38112	-0.9676	9	0.62326	D	0.03	2.8836	7.3857	0.26880	0.5933:0.0:0.2885:0.1182	.	52	P38571	LICH_HUMAN	I	52	ENSP00000337354:L52I;ENSP00000413019:L52I;ENSP00000388415:L52I;ENSP00000282673:L52I	ENSP00000282673:L52I	L	-	1	2	LIPA	90995488	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-2.345000	0.01097	-0.669000	0.05289	0.655000	0.94253	CTA		PASS	0.418	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		4	34	4	34	---	---	---	---
LBX1	10660	broad.mit.edu	37	10	102987414	102987414	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:102987414G>A	ENST00000370193.2	-	2	1437	c.459C>T	c.(457-459)gcC>gcT	p.A153A	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	153					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A153A(1)		large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGTCGCGATCGGCGGGGGACA	0.582																																						uc001ksx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)GCC>GCT		ladybird homeobox 1							90.0	95.0	93.0					10																	102987414		2203	4300	6503	SO:0001819	synonymous_variant	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102987414G>A	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.459C>T	10.37:g.102987414G>A						uc010qpy.1_5'Flank	p.A153A	NM_006562	NP_006553	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	2	604	-		Colorectal(252;0.234)	153			Homeobox.		B9EGA2|Q05BB2	Silent	SNP	ENST00000370193.2	37	c.459C>T	CCDS31270.1																																																																																				PASS	0.582	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		10	68	10	68	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106960916	106960916	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:106960916G>A	ENST00000369701.3	+	16	2393	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	SORCS3_ENST00000369699.4_Silent_p.K8K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	722					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.K722K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAATATTCAAGAAACGTAAGC	0.478																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2164-2166)AAG>AAA		VPS10 domain receptor protein SORCS 3 precursor							105.0	92.0	97.0					10																	106960916		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960916G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2166G>A	10.37:g.106960916G>A						SORCS3_uc010qqz.1_RNA	p.K722K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2393	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	722			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2166G>A	CCDS7558.1																																																																																				PASS	0.478	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		16	34	16	34	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118084555	118084555	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:118084555T>C	ENST00000333254.3	+	2	283	c.32T>C	c.(31-33)aTc>aCc	p.I11T	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	11								p.I11T(1)									CAGCACATCATCTTCACCGAG	0.522																																						uc001lck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(31-33)ATC>ACC		hypothetical protein LOC374355							106.0	111.0	109.0					10																	118084555		2203	4300	6503	SO:0001583	missense	374355							g.chr10:118084555T>C	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.32T>C	10.37:g.118084555T>C	ENSP00000329860:p.Ile11Thr						p.I11T	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	2	283	+		Lung NSC(174;0.204)|all_lung(145;0.248)	11						Missense_Mutation	SNP	ENST00000333254.3	37	c.32T>C	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460788	0.43736	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.59	3.29	0.37713	.	0.581424	0.15511	N	0.258539	T	0.42381	0.1200	M	0.63428	1.95	0.27609	N	0.948714	B	0.06786	0.001	B	0.10450	0.005	T	0.39941	-0.9589	9	0.51188	T	0.08	-13.5304	6.5064	0.22198	0.0:0.1853:0.0:0.8147	.	11	P0C7W6	CJ096_HUMAN	T	11	.	ENSP00000329860:I11T	I	+	2	0	C10orf96	118074545	0.821000	0.29204	0.989000	0.46669	0.904000	0.53231	1.818000	0.39012	0.953000	0.37825	-0.256000	0.11100	ATC		PASS	0.522	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		6	22	6	22	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118236315	118236315	+	Missense_Mutation	SNP	G	G	T	rs199630485	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:118236315G>T	ENST00000369230.3	+	11	1470	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	442	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.G442W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAATACATCTGGGAAATATGG	0.303																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1324-1326)GGG>TGG		pancreatic lipase-related protein 3 precursor							87.0	94.0	91.0					10																	118236315		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118236315G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1324G>T	10.37:g.118236315G>T	ENSP00000358232:p.Gly442Trp						p.G442W	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	11	1425	+			442			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1324G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147978	0.37923	.	.	ENSG00000203837	ENST00000369230	D	0.89939	-2.59	4.07	3.16	0.36331	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.142425	0.29066	N	0.013252	D	0.93403	0.7896	M	0.81497	2.545	0.33962	D	0.645787	D	0.89917	1.0	D	0.91635	0.999	D	0.94960	0.8107	10	0.87932	D	0	.	9.8496	0.41048	0.1036:0.0:0.8964:0.0	.	442	Q17RR3	LIPR3_HUMAN	W	442	ENSP00000358232:G442W	ENSP00000358232:G442W	G	+	1	0	PNLIPRP3	118226305	0.992000	0.36948	0.965000	0.40720	0.579000	0.36224	2.232000	0.43018	1.009000	0.39289	-0.150000	0.13652	GGG		PASS	0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		11	22	11	22	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118440730	118440730	+	Silent	SNP	G	G	A	rs374148558		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:118440730G>A	ENST00000369209.3	-	9	1064	c.960C>T	c.(958-960)acC>acT	p.T320T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	320						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T941T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAGGTCTACGGTGCCACCGC	0.488																																						uc001lct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(958-960)ACC>ACT		heat shock 70kDa protein 12A		G		2,4170		0,2,2084	69.0	80.0	76.0		960	-6.8	0.7	10		76	0,8402		0,0,4201	no	coding-synonymous	HSPA12A	NM_025015.2		0,2,6285	AA,AG,GG		0.0,0.0479,0.0159		320/676	118440730	2,12572	2086	4201	6287	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118440730G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.960C>T	10.37:g.118440730G>A						HSPA12A_uc001lcu.2_Silent_p.T237T	p.T320T	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1065	-			320						Silent	SNP	ENST00000369209.3	37	c.960C>T	CCDS41569.1																																																																																				PASS	0.488	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		10	23	10	23	---	---	---	---
RGS10	6001	broad.mit.edu	37	10	121285580	121285580	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:121285580T>C	ENST00000369101.3	-	2	222	c.195A>G	c.(193-195)gcA>gcG	p.A65A	RGS10_ENST00000392865.1_Silent_p.A59A|RGS10_ENST00000369103.2_Silent_p.A73A|RGS10_ENST00000469575.1_5'UTR			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	65	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A73A(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		AATCTTCACATGCTAGCCAAA	0.303																																						uc001lee.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(193-195)GCA>GCG		regulator of G-protein signaling 10 isoform b							94.0	101.0	99.0					10																	121285580		2201	4298	6499	SO:0001819	synonymous_variant	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121285580T>C	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.195A>G	10.37:g.121285580T>C						RGS10_uc001lef.2_Silent_p.A59A|RGS10_uc001leg.2_Silent_p.A73A	p.A65A	NM_002925	NP_002916	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	2	195	-		Lung NSC(174;0.094)|all_lung(145;0.123)	65			RGS.		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP	ENST00000369101.3	37	c.195A>G																																																																																					PASS	0.303	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		7	52	7	52	---	---	---	---
PWWP2B	170394	broad.mit.edu	37	10	134219163	134219163	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr10:134219163G>A	ENST00000305233.5	+	2	1218	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PWWP2B_ENST00000368609.4_Missense_Mutation_p.E387K	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	387								p.E387K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AAGTTCGGGTGAGGACGATGA	0.667																																						uc001lll.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GAG>AAG		PWWP domain containing 2 isoform 1							45.0	44.0	45.0					10																	134219163		2200	4292	6492	SO:0001583	missense	170394							g.chr10:134219163G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1159G>A	10.37:g.134219163G>A	ENSP00000306324:p.Glu387Lys					PWWP2B_uc009ybe.2_Missense_Mutation_p.E387K	p.E387K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1188	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	387					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1159G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728424	0.69074	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.59906	0.23;1.24	4.51	4.51	0.55191	.	0.071001	0.56097	U	0.000035	T	0.64349	0.2590	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.66064	-0.6016	10	0.46703	T	0.11	-19.5275	16.6007	0.84815	0.0:0.0:1.0:0.0	.	387	Q6NUJ5	PWP2B_HUMAN	K	387	ENSP00000306324:E387K;ENSP00000357598:E387K	ENSP00000306324:E387K	E	+	1	0	PWWP2B	134069153	1.000000	0.71417	0.908000	0.35775	0.095000	0.18619	7.226000	0.78060	2.237000	0.73441	0.563000	0.77884	GAG		PASS	0.667	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		7	40	7	40	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	278571	278571	+	Start_Codon_SNP	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:278571T>C	ENST00000312165.5	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NLRP6_ENST00000534750.1_Start_Codon_SNP_p.M1T	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	1	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.M1T(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGACCCCATGGACCAGCCA	0.647																																						uc010qvs.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1-3)ATG>ACG		NLR family, pyrin domain containing 6							81.0	93.0	89.0					11																	278571		2203	4300	6503	SO:0001582	initiator_codon_variant	171389					cytoplasm	ATP binding	g.chr11:278571T>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2T>C	11.37:g.278571T>C	ENSP00000309767:p.Met1Thr					NLRP6_uc010qvt.1_Missense_Mutation_p.M1T	p.M1T	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	2	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	1			DAPIN.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2T>C	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316413	0.23908	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74421	-0.84;-0.82	3.47	-1.73	0.08081	Pyrin (1);	.	.	.	.	T	0.57110	0.2031	.	.	.	0.80722	D	1	B;B	0.29432	0.244;0.244	B;B	0.21917	0.037;0.037	T	0.47381	-0.9122	8	0.87932	D	0	.	3.7892	0.08713	0.0:0.24:0.3931:0.367	.	1;1	E9PJZ8;P59044	.;NALP6_HUMAN	T	1	ENSP00000433617:M1T;ENSP00000309767:M1T	ENSP00000309767:M1T	M	+	2	0	NLRP6	268571	0.070000	0.21116	0.018000	0.16275	0.134000	0.20937	0.007000	0.13174	-0.228000	0.09869	0.459000	0.35465	ATG		PASS	0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329	Missense_Mutation	24	20	24	20	---	---	---	---
SIGIRR	59307	broad.mit.edu	37	11	408162	408162	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:408162C>T	ENST00000431843.2	-	4	557	c.251G>A	c.(250-252)gGg>gAg	p.G84E	SIGIRR_ENST00000332725.3_Missense_Mutation_p.G84E|SIGIRR_ENST00000382520.2_Missense_Mutation_p.G84E|SIGIRR_ENST00000531205.1_Missense_Mutation_p.G84E|SIGIRR_ENST00000397632.3_Missense_Mutation_p.G84E|SIGIRR_ENST00000529486.1_5'UTR	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	84	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G84E(1)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTTGACCCCCAGGACACT	0.587																																						uc001lpd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGG>GAG		single Ig IL-1R-related molecule							124.0	114.0	118.0					11																	408162		2202	4300	6502	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408162C>T		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.251G>A	11.37:g.408162C>T	ENSP00000403104:p.Gly84Glu					SIGIRR_uc001lpf.2_Missense_Mutation_p.G84E|SIGIRR_uc001lpe.1_Missense_Mutation_p.G84E|SIGIRR_uc001lpg.2_Missense_Mutation_p.G84E	p.G84E	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	581	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	84			Ig-like C2-type.|Extracellular (Potential).		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.251G>A	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	c	3.020	-0.201875	0.06219	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	3.0	2.03	0.26663	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.150470	0.06347	N	0.709116	T	0.55353	0.1915	L	0.51422	1.61	0.24501	N	0.994259	B;B	0.23442	0.085;0.006	B;B	0.14023	0.01;0.004	T	0.38265	-0.9669	10	0.24483	T	0.36	.	3.042	0.06141	0.2901:0.5564:0.0:0.1535	.	84;84	C9JFX4;Q6IA17	.;SIGIR_HUMAN	E	84	ENSP00000403104:G84E;ENSP00000380756:G84E;ENSP00000333656:G84E;ENSP00000433022:G84E;ENSP00000371960:G84E	ENSP00000333656:G84E	G	-	2	0	SIGIRR	398162	0.009000	0.17119	0.686000	0.30086	0.036000	0.12997	-0.113000	0.10774	0.770000	0.33336	0.305000	0.20034	GGG		PASS	0.587	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		10	49	10	49	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	A	rs104894228		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:534286C>A	ENST00000451590.1	-	2	224	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	HRAS_ENST00000417302.1_Missense_Mutation_p.G13C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13C|HRAS_ENST00000397596.2_Missense_Mutation_p.G13C|HRAS_ENST00000397594.1_Missense_Mutation_p.G13C	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)GGT>TGT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>T	11.37:g.534286C>A	ENSP00000407586:p.Gly13Cys	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13C|HRAS_uc010qvx.1_Missense_Mutation_p.G13C|HRAS_uc010qvy.1_RNA	p.G13C	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232247	0.58777	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.91920	3.255	0.80722	A	1	P;P	0.42649	0.786;0.504	B;P	0.44394	0.32;0.448	D	0.90314	0.4339	9	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	C	13	ENSP00000380722:G13C;ENSP00000380723:G13C;ENSP00000407586:G13C;ENSP00000388246:G13C;ENSP00000309845:G13C	ENSP00000309845:G13C	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		PASS	0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		13	7	13	7	---	---	---	---
KRTAP5-6	440023	broad.mit.edu	37	11	1718593	1718593	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:1718593T>G	ENST00000382160.1	+	1	169	c.118T>G	c.(118-120)Tgc>Ggc	p.C40G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	40	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C40G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCGTGTGCTGCTGTGTGCC	0.667																																						uc001lua.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TGC>GGC		keratin associated protein 5-6							81.0	99.0	93.0					11																	1718593		2202	4299	6501	SO:0001583	missense	440023					keratin filament		g.chr11:1718593T>G	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.118T>G	11.37:g.1718593T>G	ENSP00000371595:p.Cys40Gly						p.C40G	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	169	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	40			3.|6 X 4 AA repeats of C-C-X-P.		A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.118T>G	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	t	8.571	0.880000	0.17467	.	.	ENSG00000205864	ENST00000382160	T	0.09163	3.01	3.84	2.67	0.31697	.	.	.	.	.	T	0.15305	0.0369	M	0.79343	2.45	0.29372	N	0.863906	B	0.20550	0.046	B	0.22601	0.04	T	0.07751	-1.0756	9	0.48119	T	0.1	.	8.483	0.33054	0.0:0.0:0.1973:0.8027	.	40	Q6L8G9	KRA56_HUMAN	G	40	ENSP00000371595:C40G	ENSP00000371595:C40G	C	+	1	0	KRTAP5-6	1675169	0.965000	0.33210	1.000000	0.80357	0.872000	0.50106	0.117000	0.15583	0.351000	0.24027	0.434000	0.28630	TGC		PASS	0.667	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			32	36	32	36	---	---	---	---
ART5	116969	broad.mit.edu	37	11	3660919	3660919	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:3660919C>A	ENST00000397068.3	-	2	1132	c.740G>T	c.(739-741)tGg>tTg	p.W247L	ART5_ENST00000359918.4_Missense_Mutation_p.W247L|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	247					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)	p.W247L(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTATAGCTCCAGAGAGTCAC	0.527																																						uc001lyb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)TGG>TTG		ADP-ribosyltransferase 5 precursor							80.0	88.0	85.0					11																	3660919		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660919C>A	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.740G>T	11.37:g.3660919C>A	ENSP00000380258:p.Trp247Leu					ART5_uc001lyc.1_Missense_Mutation_p.W247L|ART5_uc001lyd.2_Intron|ART5_uc009yea.2_Intron	p.W247L	NM_053017	NP_443750	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1133	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	247					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.740G>T	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556990	0.27827	.	.	ENSG00000167311	ENST00000397068;ENST00000359918;ENST00000425767	T;T;T	0.07567	3.18;3.18;3.18	5.95	0.958	0.19619	.	1.233990	0.05371	N	0.535418	T	0.04815	0.0130	N	0.14661	0.345	0.28094	N	0.93168	B	0.16166	0.016	B	0.21151	0.033	T	0.43734	-0.9373	10	0.27785	T	0.31	-0.3381	1.1124	0.01707	0.1428:0.393:0.1561:0.3081	.	247	Q96L15	NAR5_HUMAN	L	247;247;128	ENSP00000380258:W247L;ENSP00000352992:W247L;ENSP00000413852:W128L	ENSP00000352992:W247L	W	-	2	0	ART5	3617495	0.000000	0.05858	0.986000	0.45419	0.971000	0.66376	-0.232000	0.09055	0.133000	0.18654	-0.136000	0.14681	TGG		PASS	0.527	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		6	69	6	69	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5878375	5878375	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:5878375C>A	ENST00000537935.1	-	1	589	c.558G>T	c.(556-558)gaG>gaT	p.E186D	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E186D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCATGTGCTCACAATAAG	0.483																																						uc010qzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(556-558)GAG>GAT		olfactory receptor, family 52, subfamily E,							106.0	112.0	110.0					11																	5878375		2151	4296	6447	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878375C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.558G>T	11.37:g.5878375C>A	ENSP00000444054:p.Glu186Asp					TRIM5_uc001mbq.1_Intron	p.E186D	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	558	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	186			Extracellular (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.558G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285193	0.59867	.	.	ENSG00000183269	ENST00000537935	T	0.00198	8.57	4.35	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.00384	0.0012	M	0.71581	2.175	0.26379	N	0.976764	D	0.89917	1.0	D	0.87578	0.998	T	0.49021	-0.8982	10	0.39692	T	0.17	.	6.4359	0.21823	0.0:0.6682:0.148:0.1838	.	186	Q6IFG1	O52E8_HUMAN	D	186	ENSP00000444054:E186D	ENSP00000444054:E186D	E	-	3	2	OR52E8	5834951	0.000000	0.05858	0.997000	0.53966	0.914000	0.54420	-1.536000	0.02208	0.128000	0.18479	0.549000	0.68633	GAG		PASS	0.483	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		5	58	5	58	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905533	5905533	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:5905533T>C	ENST00000316987.2	+	1	33	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I4T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCTTCTATCAATGACACC	0.428																																						uc010qzs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(10-12)ATC>ACC		olfactory receptor, family 52, subfamily E,							150.0	148.0	149.0					11																	5905533		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905533T>C	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.11T>C	11.37:g.5905533T>C	ENSP00000321426:p.Ile4Thr					TRIM5_uc001mbq.1_Intron	p.I4T	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	11	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	4			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.11T>C	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	T	5.438	0.265872	0.10294	.	.	ENSG00000180974	ENST00000316987	T	0.36520	1.25	5.15	-1.56	0.08532	.	0.612106	0.14518	N	0.314645	T	0.11281	0.0275	N	0.02379	-0.575	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25984	-1.0116	10	0.22109	T	0.4	.	4.8318	0.13445	0.133:0.3176:0.0:0.5494	.	4	Q8NGH9	O52E4_HUMAN	T	4	ENSP00000321426:I4T	ENSP00000321426:I4T	I	+	2	0	OR52E4	5862109	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.445000	0.06845	-0.154000	0.11118	0.523000	0.50628	ATC		PASS	0.428	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		23	29	23	29	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6190722	6190722	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:6190722C>A	ENST00000530810.1	-	1	916	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A279S(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAAGATTGGCCAGCAAGATA	0.448																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(835-837)GCC>TCC		olfactory receptor, family 52, subfamily B,							98.0	93.0	95.0					11																	6190722		1959	4150	6109	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190722C>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.835G>T	11.37:g.6190722C>A	ENSP00000432011:p.Ala279Ser						p.A279S	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	835	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	279			Helical; Name=7; (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.835G>T	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178650	0.38511	.	.	ENSG00000255307	ENST00000530810	T	0.00027	8.93	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.54323	1.7	0.25088	N	0.990875	D	0.89917	1.0	D	0.87578	0.998	T	0.62746	-0.6789	9	0.87932	D	0	.	12.6297	0.56651	0.1653:0.8347:0.0:0.0	.	279	Q96RD2	O52B2_HUMAN	S	279	ENSP00000432011:A279S	ENSP00000432011:A279S	A	-	1	0	OR52B2	6147298	0.929000	0.31497	1.000000	0.80357	0.233000	0.25261	1.260000	0.32968	2.636000	0.89361	0.453000	0.30009	GCC		PASS	0.448	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		12	17	12	17	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655522	6655522	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:6655522C>T	ENST00000299441.3	-	3	2224	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A605T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACTATCCGCGTCTGTGGCT	0.572																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1813-1815)GCG>ACG		dachsous 1 precursor							68.0	78.0	75.0					11																	6655522		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655522C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1813G>A	11.37:g.6655522C>T	ENSP00000299441:p.Ala605Thr						p.A605T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	2223	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	605			Cadherin 6.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1813G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130876	0.77549	.	.	ENSG00000166341	ENST00000299441	T	0.61859	0.07	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	D	0.000386	T	0.75451	0.3851	M	0.89095	3.005	0.47659	D	0.999482	D	0.89917	1.0	D	0.72338	0.977	T	0.74176	-0.3750	10	0.14656	T	0.56	.	12.1736	0.54173	0.1702:0.8298:0.0:0.0	.	605	Q96JQ0	PCD16_HUMAN	T	605	ENSP00000299441:A605T	ENSP00000299441:A605T	A	-	1	0	DCHS1	6612098	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	5.368000	0.66133	2.541000	0.85698	0.655000	0.94253	GCG		PASS	0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	14	13	14	---	---	---	---
HTATIP2	10553	broad.mit.edu	37	11	20398241	20398241	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:20398241A>G	ENST00000451739.2	+	3	860	c.419A>G	c.(418-420)aAt>aGt	p.N140S	HTATIP2_ENST00000531058.1_Intron|HTATIP2_ENST00000443524.2_Missense_Mutation_p.N140S|HTATIP2_ENST00000419348.2_Missense_Mutation_p.N174S|HTATIP2_ENST00000421577.2_Missense_Mutation_p.N140S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa									p.N140S(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAATCAAGCAATTTTTTATAT	0.363																																						uc009yia.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)AAT>AGT		HIV-1 Tat interactive protein 2, 30kDa isoform							86.0	89.0	88.0					11																	20398241		2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20398241A>G	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.419A>G	11.37:g.20398241A>G	ENSP00000394259:p.Asn140Ser					HTATIP2_uc009yib.1_Missense_Mutation_p.N140S|HTATIP2_uc001mpx.2_Missense_Mutation_p.N174S|HTATIP2_uc001mpz.2_Missense_Mutation_p.N140S	p.N140S	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN			4	485	+			140						Missense_Mutation	SNP	ENST00000451739.2	37	c.419A>G	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.299570	0.01364	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.8	-4.4	0.03600	NAD(P)-binding domain (1);	0.282548	0.48767	N	0.000162	T	0.05318	0.0141	N	0.00099	-2.14	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48843	-0.8999	10	0.02654	T	1	-18.2455	17.7574	0.88453	0.1857:0.0:0.8143:0.0	.	140;174	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	S	140;140;174;140	ENSP00000397752:N140S;ENSP00000387876:N140S;ENSP00000392985:N174S;ENSP00000394259:N140S	ENSP00000392985:N174S	N	+	2	0	HTATIP2	20354817	0.009000	0.17119	0.258000	0.24420	0.256000	0.26092	-0.031000	0.12287	-0.756000	0.04703	-0.411000	0.06167	AAT		PASS	0.363	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		11	34	11	34	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48267476	48267476	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:48267476T>C	ENST00000302329.3	+	1	869	c.821T>C	c.(820-822)cTg>cCg	p.L274P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L274P(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACCGCGATCCTGAACCCTGTC	0.478																																						uc001ngs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CTG>CCG		olfactory receptor, family 4, subfamily X,							103.0	94.0	97.0					11																	48267476		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267476T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.821T>C	11.37:g.48267476T>C	ENSP00000307751:p.Leu274Pro						p.L274P	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	821	+			274			Helical; Name=7; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.821T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729836	0.48833	.	.	ENSG00000172208	ENST00000302329	T	0.50813	0.73	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000319	T	0.72061	0.3414	M	0.86502	2.82	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.77744	-0.2473	10	0.87932	D	0	.	13.514	0.61530	0.0:0.0:0.0:1.0	.	274	Q8NGF9	OR4X2_HUMAN	P	274	ENSP00000307751:L274P	ENSP00000307751:L274P	L	+	2	0	OR4X2	48224052	0.964000	0.33143	0.980000	0.43619	0.321000	0.28281	7.554000	0.82212	2.065000	0.61736	0.528000	0.53228	CTG		PASS	0.478	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		21	45	21	45	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328071	48328071	+	Silent	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:48328071C>G	ENST00000319988.1	+	1	297	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L99L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGACCCAGCTCTTTTCTGCCC	0.493																																						uc010rhu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(295-297)CTC>CTG		olfactory receptor, family 4, subfamily S,							124.0	109.0	114.0					11																	48328071		2201	4288	6489	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328071C>G	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.297C>G	11.37:g.48328071C>G							p.L99L	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	297	+			99			Helical; Name=3; (Potential).		Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.297C>G	CCDS31488.1																																																																																				PASS	0.493	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		3	49	3	49	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136005	55136005	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:55136005G>T	ENST00000314706.3	+	1	646	c.646G>T	c.(646-648)Gct>Tct	p.A216S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A216S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGAAACTTGCTTGCACCAA	0.418																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(646-648)GCT>TCT		olfactory receptor, family 4, subfamily A,							130.0	120.0	123.0					11																	55136005		2201	4294	6495	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136005G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.646G>T	11.37:g.55136005G>T	ENSP00000325065:p.Ala216Ser						p.A216S	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	646	+			216			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.646G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	10.53	1.376275	0.24857	.	.	ENSG00000181958	ENST00000314706	T	0.00021	9.02	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.00178	0.0005	L	0.35249	1.045	0.24677	N	0.993388	P	0.46220	0.874	P	0.53760	0.734	T	0.52147	-0.8614	10	0.54805	T	0.06	.	8.3732	0.32427	0.0:0.0:0.7655:0.2345	.	216	Q8NGL6	O4A15_HUMAN	S	216	ENSP00000325065:A216S	ENSP00000325065:A216S	A	+	1	0	OR4A15	54892581	0.000000	0.05858	0.187000	0.23214	0.092000	0.18411	-0.466000	0.06672	1.871000	0.54225	0.492000	0.49549	GCT		PASS	0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		21	27	21	27	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587663	55587663	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:55587663C>T	ENST00000333976.4	+	1	578	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L186L(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)				CCTCACTACTCTCCCTTTCTT	0.408																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(556-558)CTC>CTT		olfactory receptor, family 5, subfamily D,							214.0	192.0	199.0					11																	55587663		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587663C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.558C>T	11.37:g.55587663C>T							p.L186L	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	558	+		all_epithelial(135;0.208)	186			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.558C>T	CCDS31510.1																																																																																				PASS	0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		19	58	19	58	---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58384716	58384716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:58384716G>A	ENST00000316059.6	+	11	1421	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.W417*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	417					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.W417*(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCTCTTAATTGGCACATGAAG	0.413																																						uc001nmx.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1249-1251)TGG>TAG		zinc finger protein 91							102.0	96.0	98.0					11																	58384716		2201	4295	6496	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384716G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1250G>A	11.37:g.58384716G>A	ENSP00000339030:p.Trp417*					ZFP91_uc001nmy.3_Nonsense_Mutation_p.W416*|ZFP91-CNTF_uc010rkm.1_RNA	p.W417*	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			11	1418	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	417			C2H2-type 4.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.1250G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	37	6.141151	0.97320	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-11.4656	19.1058	0.93294	0.0:0.0:1.0:0.0	.	.	.	.	X	417	.	ENSP00000374569:W417X	W	+	2	0	ZFP91	58141292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.822000	0.97130	0.650000	0.86243	TGG		PASS	0.413	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		14	38	14	38	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211431	59211431	+	Nonsense_Mutation	SNP	C	C	T	rs199856591		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:59211431C>T	ENST00000302030.2	+	1	815	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264*(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CGTGTACTTGCGACCCAGCTC	0.527																																						uc001nnx.1																			2	Substitution - Nonsense(2)		lung(1)|prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(790-792)CGA>TGA		olfactory receptor, family 5, subfamily A,							251.0	204.0	220.0					11																	59211431		2201	4295	6496	SO:0001587	stop_gained	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211431C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.790C>T	11.37:g.59211431C>T	ENSP00000303096:p.Arg264*						p.R264*	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	790	+			264			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	ENST00000302030.2	37	c.790C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271770	0.80469	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	1.81	0.25067	.	0.186698	0.26463	N	0.024228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0716	15.3047	0.73982	0.6461:0.3539:0.0:0.0	.	.	.	.	X	264	.	ENSP00000303096:R264X	R	+	1	2	OR5A1	58968007	0.000000	0.05858	0.978000	0.43139	0.936000	0.57629	-0.209000	0.09358	0.064000	0.16427	0.650000	0.86243	CGA		PASS	0.527	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		40	82	40	82	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62402444	62402444	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:62402444T>A	ENST00000356638.3	-	5	425	c.409A>T	c.(409-411)Agt>Tgt	p.S137C	GANAB_ENST00000346178.4_Missense_Mutation_p.S137C|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Missense_Mutation_p.S23C|GANAB_ENST00000540933.1_Missense_Mutation_p.S40C	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	137					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.S137C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AACTCCACACTGTTCTCATCA	0.463																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(409-411)AGT>TGT		neutral alpha-glucosidase AB isoform 2							140.0	124.0	129.0					11																	62402444		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62402444T>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.409A>T	11.37:g.62402444T>A	ENSP00000349053:p.Ser137Cys					GANAB_uc001nua.2_Missense_Mutation_p.S137C|GANAB_uc001nuc.2_Missense_Mutation_p.S40C|GANAB_uc010rma.1_Missense_Mutation_p.S23C|GANAB_uc010rmb.1_Missense_Mutation_p.S23C	p.S137C	NM_198334	NP_938148	Q14697	GANAB_HUMAN			5	442	-			137					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.409A>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258033	0.39896	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933;ENST00000525994	D;D;D;D;T	0.89875	-2.5;-2.41;-2.58;-2.44;1.18	5.15	5.15	0.70609	Glycoside hydrolase-type carbohydrate-binding (1);	0.439330	0.27072	N	0.021079	D	0.91469	0.7307	M	0.62723	1.935	0.39460	D	0.967546	B;B;B;D	0.65815	0.047;0.107;0.051;0.995	B;B;B;P	0.57324	0.03;0.03;0.03;0.818	D	0.92151	0.5728	10	0.52906	T	0.07	-10.8054	12.972	0.58517	0.0:0.0:0.0:1.0	.	23;23;137;137	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	C	137;137;23;40;23	ENSP00000340466:S137C;ENSP00000349053:S137C;ENSP00000435306:S23C;ENSP00000442962:S40C;ENSP00000434805:S23C	ENSP00000340466:S137C	S	-	1	0	GANAB	62159020	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.286000	0.51724	2.174000	0.68829	0.533000	0.62120	AGT		PASS	0.463	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		46	41	46	41	---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64359261	64359261	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:64359261C>A	ENST00000377574.1	+	1	980	c.233C>A	c.(232-234)cCg>cAg	p.P78Q	SLC22A12_ENST00000377567.2_Missense_Mutation_p.P78Q|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.P78Q|SLC22A12_ENST00000336464.7_Missense_Mutation_p.P78Q	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	78					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.P78Q(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ATTTCCATCCCGCCGGGCCCC	0.692																																						uc001oam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM086590	SLC22A12	M		c.(232-234)CCG>CAG		urate anion exchanger 1 isoform a							32.0	35.0	34.0					11																	64359261		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359261C>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.233C>A	11.37:g.64359261C>A	ENSP00000366797:p.Pro78Gln					SLC22A12_uc009ypr.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oan.1_Missense_Mutation_p.P78Q|SLC22A12_uc009ypt.2_5'Flank	p.P78Q	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	980	+			78					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.233C>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846939	0.51164	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.16	4.16	0.48862	.	0.135171	0.50627	D	0.000111	T	0.70780	0.3263	H	0.96239	3.79	0.34319	D	0.68635	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85914	0.1442	10	0.87932	D	0	.	13.9553	0.64144	0.0:1.0:0.0:0.0	.	78;78;78;78	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	Q	78	ENSP00000366790:P78Q;ENSP00000366797:P78Q;ENSP00000366795:P78Q;ENSP00000336836:P78Q	ENSP00000336836:P78Q	P	+	2	0	SLC22A12	64115837	0.999000	0.42202	0.846000	0.33378	0.044000	0.14063	4.179000	0.58290	1.868000	0.54150	0.484000	0.47621	CCG		PASS	0.692	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		8	11	8	11	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66983395	66983395	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:66983395G>T	ENST00000529006.2	+	8	1108	c.662G>T	c.(661-663)tGg>tTg	p.W221L	KDM2A_ENST00000398645.2_Missense_Mutation_p.W221L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	221	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.W221L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCTCTGTTTGGTATCACATC	0.428																																						uc001ojw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(661-663)TGG>TTG		F-box and leucine-rich repeat protein 11							368.0	345.0	352.0					11																	66983395		1958	4151	6109	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66983395G>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.662G>T	11.37:g.66983395G>T	ENSP00000432786:p.Trp221Leu					KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_5'UTR	p.W221L	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			8	1526	+			221			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.662G>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359407	0.95854	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.69561	-0.41;-0.41	5.69	5.69	0.88448	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90431	0.4424	10	0.87932	D	0	-11.8046	18.8026	0.92023	0.0:0.0:1.0:0.0	.	221	Q9Y2K7	KDM2A_HUMAN	L	221	ENSP00000381640:W221L;ENSP00000432786:W221L	ENSP00000381640:W221L	W	+	2	0	KDM2A	66739971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.691000	0.91804	0.655000	0.94253	TGG		PASS	0.428	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		6	164	6	164	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063118	69063118	+	Missense_Mutation	SNP	C	C	A	rs139486495		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:69063118C>A	ENST00000308946.3	+	3	651	c.201C>A	c.(199-201)ttC>ttA	p.F67L	MYEOV_ENST00000535407.1_Missense_Mutation_p.F9L|MYEOV_ENST00000441339.2_Missense_Mutation_p.F67L	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	67								p.F67L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGGACACTTCGTGGAGGGCT	0.582																																						uc001oov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)TTC>TTA		myeloma overexpressed							56.0	65.0	62.0					11																	69063118		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063118C>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.201C>A	11.37:g.69063118C>A	ENSP00000308330:p.Phe67Leu					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.F67L|MYEOV_uc001oow.2_Missense_Mutation_p.F9L	p.F67L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	651	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		67					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.201C>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883721	0.17467	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.21932	1.99;1.99;1.98	1.69	0.759	0.18438	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.08055	0.003	T	0.27640	-1.0068	9	0.87932	D	0	.	4.1229	0.10114	0.0:0.7791:0.0:0.2209	.	67	Q96EZ4	MYEOV_HUMAN	L	67;67;9	ENSP00000412482:F67L;ENSP00000308330:F67L;ENSP00000438100:F9L	ENSP00000308330:F67L	F	+	3	2	MYEOV	68819694	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.301000	0.08232	0.288000	0.22398	0.491000	0.48974	TTC		PASS	0.582	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			4	50	4	50	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74062614	74062614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:74062614C>T	ENST00000298198.4	-	6	874	c.563G>A	c.(562-564)tGg>tAg	p.W188*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	188					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.W188*(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ACCAGTTTCCCAGTAAACCTA	0.328																																						uc001ovb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(562-564)TGG>TAG		phosphoglucomutase 2-like 1							51.0	51.0	51.0					11																	74062614		2200	4293	6493	SO:0001587	stop_gained	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74062614C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.563G>A	11.37:g.74062614C>T	ENSP00000298198:p.Trp188*						p.W188*	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			6	859	-	Breast(11;3.32e-06)		188					Q96MQ7|Q9UIK3	Nonsense_Mutation	SNP	ENST00000298198.4	37	c.563G>A	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213476	0.97380	.	.	ENSG00000165434	ENST00000298198;ENST00000538908	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8826	16.7069	0.85374	0.0:1.0:0.0:0.0	.	.	.	.	X	188;94	.	ENSP00000298198:W188X	W	-	2	0	PGM2L1	73740262	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.765000	0.85310	2.618000	0.88619	0.655000	0.94253	TGG		PASS	0.328	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		8	22	8	22	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380545	78380545	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:78380545T>A	ENST00000278550.7	-	32	7307	c.6845A>T	c.(6844-6846)aAc>aTc	p.N2282I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2282					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N2282I(2)									GCCAGCCCGGTTGTAGGCCTT	0.592																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(6844-6846)AAC>ATC		odz, odd Oz/ten-m homolog 4							101.0	110.0	107.0					11																	78380545		2135	4247	6382	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380545T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6845A>T	11.37:g.78380545T>A	ENSP00000278550:p.Asn2282Ile					ODZ4_uc001ozk.3_Missense_Mutation_p.N507I|ODZ4_uc009yvb.1_Missense_Mutation_p.N866I	p.N2282I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7308	-			2282			Extracellular (Potential).|YD 21.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6845A>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330082	0.60743	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90197	-2.63;0.81	5.14	4.02	0.46733	.	0.045090	0.85682	D	0.000000	D	0.94069	0.8099	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.93169	0.6564	9	.	.	.	.	10.5766	0.45231	0.0:0.0745:0.0:0.9255	.	2282	Q6N022	TEN4_HUMAN	I	2282;746	ENSP00000278550:N2282I;ENSP00000431711:N746I	.	N	-	2	0	ODZ4	78058193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.356000	0.52269	1.001000	0.39076	0.533000	0.62120	AAC		PASS	0.592	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			22	48	22	48	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85415985	85415985	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:85415985T>C	ENST00000528231.1	-	14	2467	c.2190A>G	c.(2188-2190)ctA>ctG	p.L730L	SYTL2_ENST00000524452.1_Silent_p.L706L|SYTL2_ENST00000525702.1_Silent_p.L172L|SYTL2_ENST00000316356.4_Silent_p.L731L|SYTL2_ENST00000533892.1_Silent_p.L132L|SYTL2_ENST00000389960.4_Silent_p.L706L|SYTL2_ENST00000525423.1_Silent_p.L1052L|SYTL2_ENST00000527523.1_Silent_p.L698L|SYTL2_ENST00000529581.1_Silent_p.L172L|SYTL2_ENST00000359152.5_Silent_p.L1576L|SYTL2_ENST00000354566.3_Silent_p.L1068L|SYTL2_ENST00000389958.3_Silent_p.L161L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	730	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.L1068L(1)|p.L731L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCACCTCCCCTAGGAAACTAT	0.388																																						uc010rth.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(2188-2190)CTA>CTG		synaptotagmin-like 2 isoform g							183.0	171.0	175.0					11																	85415985		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85415985T>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2190A>G	11.37:g.85415985T>C						SYTL2_uc010rtg.1_Silent_p.L731L|SYTL2_uc010rti.1_Silent_p.L706L|SYTL2_uc010rtj.1_Silent_p.L698L|SYTL2_uc001pav.2_Silent_p.L172L|SYTL2_uc010rte.1_Silent_p.L132L|SYTL2_uc001pax.2_Silent_p.L172L|SYTL2_uc001paz.2_Silent_p.L51L|SYTL2_uc001pba.2_Silent_p.L115L|SYTL2_uc001pay.2_Silent_p.L161L|SYTL2_uc001paw.2_Silent_p.L132L|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.L1028L|SYTL2_uc001pbb.2_Silent_p.L1068L|SYTL2_uc001pbc.2_Silent_p.L1052L|SYTL2_uc010rtf.1_Silent_p.L548L	p.L730L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	14	2466	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	730			C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.2190A>G	CCDS53688.1																																																																																				PASS	0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		24	33	24	33	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85701428	85701428	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:85701428T>C	ENST00000393346.3	-	13	1421	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Intron|PICALM_ENST00000356360.5_Missense_Mutation_p.T425A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	425					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.T425A(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GCATCTACAGTAGCAGAGAAA	0.338			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1273-1275)ACT>GCT		phosphatidylinositol-binding clathrin assembly							96.0	92.0	93.0					11																	85701428		2203	4299	6502	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85701428T>C	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1273A>G	11.37:g.85701428T>C	ENSP00000377015:p.Thr425Ala					PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Intron|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Missense_Mutation_p.T57A	p.T425A	NM_007166	NP_009097	Q13492	PICAL_HUMAN			13	1559	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	425					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.1273A>G	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.801|9.801	1.180672|1.180672	0.21787|0.21787	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000447890;ENST00000393346;ENST00000356360|ENST00000530542	T;T|.	0.13901|.	2.55;2.55|.	6.07|6.07	3.65|3.65	0.41850|0.41850	.|.	0.378995|.	0.26875|.	N|.	0.022049|.	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.08118|0.08118	0|0	0.28100|0.28100	N|N	0.931432|0.931432	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.19257|0.19257	-1.0311|-1.0311	9|5	.|.	.|.	.|.	-11.7147|-11.7147	7.8064|7.8064	0.29204|0.29204	0.1289:0.0:0.2688:0.6023|0.1289:0.0:0.2688:0.6023	.|.	425;425|.	A8MX97;Q13492|.	.;PICAL_HUMAN|.	A|C	425|127	ENSP00000377015:T425A;ENSP00000348718:T425A|.	.|.	T|Y	-|-	1|2	0|0	PICALM|PICALM	85379076|85379076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.139000|1.139000	0.31504|0.31504	1.116000|1.116000	0.41820|0.41820	-0.264000|-0.264000	0.10439|0.10439	ACT|TAC		PASS	0.338	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		6	19	6	19	---	---	---	---
EED	8726	broad.mit.edu	37	11	85988171	85988171	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:85988171C>A	ENST00000263360.6	+	10	1802	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	EED_ENST00000351625.6_Missense_Mutation_p.F397L|EED_ENST00000327320.4_Missense_Mutation_p.F372L|EED_ENST00000527888.1_Missense_Mutation_p.F37L|EED_ENST00000528180.1_Missense_Mutation_p.F292L	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	372	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.F372L(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CTATGGATTTCTGGCAAAAGG	0.333																																						uc001pbp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1114-1116)TTC>TTA		embryonic ectoderm development isoform a							144.0	148.0	147.0					11																	85988171		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988171C>A	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1116C>A	11.37:g.85988171C>A	ENSP00000263360:p.Phe372Leu					EED_uc010rtm.1_Missense_Mutation_p.F372L|EED_uc001pbq.2_Missense_Mutation_p.F372L|EED_uc001pbr.2_Missense_Mutation_p.F397L|EED_uc001pbs.2_Missense_Mutation_p.F292L|EED_uc010rtn.1_RNA	p.F372L	NM_003797	NP_003788	O75530	EED_HUMAN			10	1573	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	372			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 6.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1116C>A	CCDS8273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.20|13.20	2.165791|2.165791	0.38217|0.38217	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888|ENST00000534595	T;T;T;T;T|.	0.65178|.	0.48;1.63;0.48;0.48;-0.14|.	5.74|5.74	4.82|4.82	0.62117|0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.110264|.	0.64402|.	D|.	0.000002|.	T|T	0.50017|0.50017	0.1591|0.1591	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.19817|.	0.039;0.0;0.0;0.014|.	B;B;B;B|.	0.15870|.	0.014;0.001;0.005;0.005|.	T|T	0.39272|0.39272	-0.9622|-0.9622	9|5	.|.	.|.	.|.	-7.4637|-7.4637	12.2634|12.2634	0.54663|0.54663	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	372;292;397;372|.	O75530-3;E9PJK2;O75530-2;O75530|.	.;.;.;EED_HUMAN|.	L|Y	372;292;397;372;121;37;37|87	ENSP00000263360:F372L;ENSP00000431778:F292L;ENSP00000338186:F397L;ENSP00000315587:F372L;ENSP00000437318:F37L|.	.|.	F|S	+|+	3|2	2|0	EED|EED	85665819|85665819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.852000|1.852000	0.39348|0.39348	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	TTC|TCT		PASS	0.333	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		11	28	11	28	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89911209	89911209	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:89911209G>A	ENST00000534061.1	+	16	2012	c.1782G>A	c.(1780-1782)ttG>ttA	p.L594L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.L561L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	594					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L594L(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGAAGCTTTGAAAAACTATG	0.338																																						uc001pdf.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1780-1782)TTG>TTA		N-acetylated alpha-linked acidic dipeptidase 2							74.0	79.0	77.0					11																	89911209		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89911209G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1782G>A	11.37:g.89911209G>A						NAALAD2_uc009yvx.2_Silent_p.L561L|NAALAD2_uc009yvy.2_Intron	p.L594L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			16	1891	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	594			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1782G>A	CCDS8288.1																																																																																				PASS	0.338	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		26	32	26	32	---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101762074	101762074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:101762074G>T	ENST00000334289.3	-	9	1698	c.1103C>A	c.(1102-1104)tCa>tAa	p.S368*		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.S368*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTTGACAGGTGAGTTGTTTTT	0.333																																						uc001pgl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1102-1104)TCA>TAA		angiopoietin-like 5 precursor							102.0	106.0	104.0					11																	101762074		2203	4299	6502	SO:0001587	stop_gained	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762074G>T	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1103C>A	11.37:g.101762074G>T	ENSP00000335255:p.Ser368*						p.S368*	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1699	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	368			Fibrinogen C-terminal.		A8K658|Q86VR9	Nonsense_Mutation	SNP	ENST00000334289.3	37	c.1103C>A	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	39	7.631986	0.98399	.	.	ENSG00000187151	ENST00000334289	.	.	.	5.04	-0.26	0.12967	.	0.932048	0.09095	N	0.849357	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6913	0.12783	0.4241:0.0:0.3546:0.2213	.	.	.	.	X	368	.	ENSP00000335255:S368X	S	-	2	0	ANGPTL5	101267284	0.000000	0.05858	0.102000	0.21198	0.959000	0.62525	0.430000	0.21428	-0.348000	0.08286	-0.142000	0.14014	TCA		PASS	0.333	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		23	47	23	47	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108384542	108384542	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:108384542C>A	ENST00000265843.4	-	6	1802	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	EXPH5_ENST00000428840.1_Silent_p.V488V|EXPH5_ENST00000443411.1_Silent_p.V376V|EXPH5_ENST00000525344.1_Silent_p.V557V|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	564					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.V564V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGTGATACCACCATGCTAT	0.438																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1690-1692)GTG>GTT		exophilin 5 isoform a							94.0	92.0	92.0					11																	108384542		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384542C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1692G>T	11.37:g.108384542C>A						EXPH5_uc010rvy.1_Silent_p.V376V|EXPH5_uc010rvz.1_Silent_p.V408V|EXPH5_uc010rwa.1_Silent_p.V488V	p.V564V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1803	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	564					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.1692G>T	CCDS8341.1																																																																																				PASS	0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		4	31	4	31	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117351887	117351887	+	Splice_Site	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:117351887A>T	ENST00000321322.6	-	13	2838		c.e13+1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.?(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGTGAAGGTACCTTGCACAG	0.627																																						uc001prh.1																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.e13+1		Down syndrome cell adhesion molecule like 1							92.0	79.0	83.0					11																	117351887		2201	4296	6497	SO:0001630	splice_region_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117351887A>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2836+1T>A	11.37:g.117351887A>T							p.E946_splice	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	13	2838	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)						Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Splice_Site	SNP	ENST00000321322.6	37	c.2836_splice	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107598	0.56291	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0053	0.58701	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAML1	116857097	1.000000	0.71417	0.999000	0.59377	0.590000	0.36582	5.350000	0.66016	1.888000	0.54679	0.397000	0.26171	.		PASS	0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	Intron	6	23	6	23	---	---	---	---
KCNJ1	3758	broad.mit.edu	37	11	128709173	128709173	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:128709173G>T	ENST00000392664.2	-	2	1139	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.F322L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F322L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F322L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F322L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	341					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F341L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TAAAGTTATGGAAATCCACTC	0.483																																						uc001qeo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1021-1023)TTC>TTA		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						109.0	105.0	107.0					11																	128709173		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709173G>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.1023C>A	11.37:g.128709173G>T	ENSP00000376432:p.Phe341Leu					KCNJ1_uc001qep.1_Missense_Mutation_p.F322L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F322L|KCNJ1_uc001qer.1_Missense_Mutation_p.F322L|KCNJ1_uc001qes.1_Missense_Mutation_p.F322L	p.F341L	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1074	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	341			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.1023C>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932764	0.52866	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.9	-0.409	0.12378	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.046250	0.85682	D	0.000000	D	0.90827	0.7119	L	0.49778	1.585	0.58432	D	0.999999	P	0.35307	0.494	B	0.41666	0.363	D	0.87047	0.2144	10	0.62326	D	0.03	.	11.2409	0.48968	0.4351:0.0:0.5649:0.0	.	341	P48048	IRK1_HUMAN	L	322;322;322;322;341	ENSP00000376433:F322L;ENSP00000376434:F322L;ENSP00000406320:F322L;ENSP00000316233:F322L;ENSP00000376432:F341L	ENSP00000316233:F322L	F	-	3	2	KCNJ1	128214383	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.807000	0.27140	0.100000	0.17581	0.563000	0.77884	TTC		PASS	0.483	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		14	23	14	23	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132016281	132016281	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:132016281G>T	ENST00000374786.1	+	2	752	c.273G>T	c.(271-273)ctG>ctT	p.L91L	NTM_ENST00000425719.2_Silent_p.L91L|NTM_ENST00000374791.3_Silent_p.L91L|NTM_ENST00000427481.2_Silent_p.L82L|NTM_ENST00000374784.1_Silent_p.L91L|NTM_ENST00000539799.1_Silent_p.L91L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	91	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L91L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGGTCCTTCTGAGCAACACCC	0.567																																						uc001qgp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(271-273)CTG>CTT		neurotrimin isoform 1							191.0	135.0	154.0					11																	132016281		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016281G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.273G>T	11.37:g.132016281G>T						NTM_uc001qgm.2_Silent_p.L91L|NTM_uc010sch.1_Silent_p.L82L|NTM_uc010sci.1_Silent_p.L91L|NTM_uc010scj.1_Silent_p.L50L|NTM_uc001qgo.2_Silent_p.L91L|NTM_uc001qgq.2_Silent_p.L91L	p.L91L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	937	+			91			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.273G>T	CCDS8491.1																																																																																				PASS	0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		22	43	22	43	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132180054	132180054	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:132180054A>C	ENST00000374786.1	+	5	1189	c.710A>C	c.(709-711)cAa>cCa	p.Q237P	NTM_ENST00000425719.2_Missense_Mutation_p.Q237P|NTM_ENST00000374791.3_Missense_Mutation_p.Q237P|NTM_ENST00000427481.2_Missense_Mutation_p.Q228P|NTM_ENST00000374784.1_Missense_Mutation_p.Q237P|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.Q237P	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	237	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Q237P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCCGTGGGACAAAAGGGGACA	0.483																																						uc001qgp.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(709-711)CAA>CCA		neurotrimin isoform 1							148.0	147.0	147.0					11																	132180054		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180054A>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.710A>C	11.37:g.132180054A>C	ENSP00000363918:p.Gln237Pro					NTM_uc001qgm.2_Missense_Mutation_p.Q237P|NTM_uc010sch.1_Missense_Mutation_p.Q228P|NTM_uc010sci.1_Missense_Mutation_p.Q237P|NTM_uc010scj.1_Missense_Mutation_p.Q196P|NTM_uc001qgo.2_Missense_Mutation_p.Q237P|NTM_uc001qgq.2_Missense_Mutation_p.Q237P|NTM_uc001qgr.2_5'UTR	p.Q237P	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			5	1374	+			237			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.710A>C	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560434	0.86335	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.048515	0.85682	D	0.000000	D	0.85923	0.5810	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D;D	0.63880	0.984;0.993;0.98;0.993;0.98;0.991	P;P;P;P;P;P	0.62560	0.861;0.904;0.782;0.904;0.844;0.844	D	0.86160	0.1593	10	0.42905	T	0.14	-15.4602	16.6288	0.85011	1.0:0.0:0.0:0.0	.	237;228;237;237;237;237	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	P	237;237;228;237;237;237	ENSP00000363923:Q237P;ENSP00000437668:Q237P;ENSP00000416320:Q228P;ENSP00000363918:Q237P;ENSP00000396722:Q237P;ENSP00000363916:Q237P	ENSP00000363916:Q237P	Q	+	2	0	NTM	131685264	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.113000	0.77095	2.326000	0.78906	0.533000	0.62120	CAA		PASS	0.483	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		42	83	42	83	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253897	134253897	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr11:134253897C>T	ENST00000524765.1	-	3	4842	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	B3GAT1_ENST00000392580.1_Missense_Mutation_p.A100T|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.A100T|B3GAT1_ENST00000537389.1_Missense_Mutation_p.A113T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	100					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A100T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTCAGCTCGGCCTTCTGCACC	0.716																																						uc001qhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)GCC>ACC		beta-1,3-glucuronyltransferase 1							36.0	27.0	30.0					11																	134253897		2199	4295	6494	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253897C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.298G>A	11.37:g.134253897C>T	ENSP00000433847:p.Ala100Thr					B3GAT1_uc001qhr.2_Missense_Mutation_p.A100T|B3GAT1_uc010scv.1_Missense_Mutation_p.A113T	p.A100T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	559	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	100			Lumenal (Potential).		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.298G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936920	0.97122	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.73329	-0.4017	10	0.46703	T	0.11	-26.9765	18.702	0.91623	0.0:1.0:0.0:0.0	.	113;100	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	T	100;100;100;113	ENSP00000376359:A100T;ENSP00000307875:A100T;ENSP00000433847:A100T;ENSP00000445983:A113T	ENSP00000307875:A100T	A	-	1	0	B3GAT1	133759107	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.799000	0.85936	2.420000	0.82092	0.561000	0.74099	GCC		PASS	0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		6	5	6	5	---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3048522	3048522	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:3048522T>A	ENST00000448120.2	+	11	1292	c.1241T>A	c.(1240-1242)tTc>tAc	p.F414Y	TULP3_ENST00000397132.2_Missense_Mutation_p.F414Y	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	414					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.F414Y(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GATGACGTGTTCACACTGGAT	0.433																																						uc010seh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1240-1242)TTC>TAC		tubby like protein 3 isoform 1							333.0	274.0	294.0					12																	3048522		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3048522T>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1241T>A	12.37:g.3048522T>A	ENSP00000410051:p.Phe414Tyr					TULP3_uc009zec.1_Missense_Mutation_p.F141Y|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.F414Y|TULP3_uc010sei.1_Missense_Mutation_p.F238Y	p.F414Y	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		11	1322	+			414					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.1241T>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206442	0.79127	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.87729	-2.29;-2.29	5.64	4.48	0.54585	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.83012	2.62	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.92761	0.6224	9	.	.	.	1.4817	12.1106	0.53838	0.0:0.0:0.1437:0.8563	.	238;414;414	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	Y	414;238;414;414	ENSP00000410051:F414Y;ENSP00000380321:F414Y	.	F	+	2	0	TULP3	2918783	1.000000	0.71417	0.966000	0.40874	0.652000	0.38707	8.040000	0.89188	0.948000	0.37687	0.402000	0.26972	TTC		PASS	0.433	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		54	77	54	77	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6696922	6696922	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:6696922T>C	ENST00000357008.2	-	24	3822	c.3659A>G	c.(3658-3660)aAa>aGa	p.K1220R	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.K1220R|CHD4_ENST00000544040.1_Missense_Mutation_p.K1213R|CHD4_ENST00000544484.1_Missense_Mutation_p.K1217R	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1220					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.K1220R(2)		central_nervous_system(2)	2						AGTGCCAAATTTGAGGATATC	0.493																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(3658-3660)AAA>AGA		chromodomain helicase DNA binding protein 4							106.0	93.0	97.0					12																	6696922		2203	4300	6503	SO:0001583	missense	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.chr12:6696922T>C	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.3659A>G	12.37:g.6696922T>C	ENSP00000349508:p.Lys1220Arg					CHD4_uc001qpn.2_Missense_Mutation_p.K1213R|CHD4_uc001qpp.2_Missense_Mutation_p.K1217R	p.K1220R	NM_001273	NP_001264	Q14839	CHD4_HUMAN			24	3823	-			1220					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3659A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812068	0.32053	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	N	0.20357	0.565	0.58432	D	0.999999	P;B;D	0.67145	0.694;0.007;0.996	B;B;D	0.76071	0.431;0.009;0.987	T	0.68413	-0.5415	10	0.02654	T	1	.	16.3352	0.83056	0.0:0.0:0.0:1.0	.	1220;1220;1213	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	R	1217;1213;1220;1220;1194	ENSP00000440392:K1217R;ENSP00000440542:K1213R;ENSP00000312419:K1220R;ENSP00000349508:K1220R	ENSP00000312419:K1220R	K	-	2	0	CHD4	6567183	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.000000	0.88501	2.261000	0.74972	0.443000	0.29094	AAA		PASS	0.493	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		24	32	24	32	---	---	---	---
CLEC1A	51267	broad.mit.edu	37	12	10224077	10224077	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:10224077C>T	ENST00000315330.4	-	6	760	c.698G>A	c.(697-699)aGc>aAc	p.S233N	CLEC1A_ENST00000457018.2_Missense_Mutation_p.S200N|CLEC1A_ENST00000420265.2_Missense_Mutation_p.S141N	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	233	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S233N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGTCTCTGCTTCTTGGGCT	0.383																																						uc001qxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(697-699)AGC>AAC		C-type lectin-like receptor-1							169.0	157.0	161.0					12																	10224077		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10224077C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.698G>A	12.37:g.10224077C>T	ENSP00000326407:p.Ser233Asn					CLEC1A_uc009zhf.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxc.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxd.2_Missense_Mutation_p.S190N|CLEC1A_uc010sgx.1_Missense_Mutation_p.S131N	p.S233N	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			6	782	-			233			C-type lectin.|Extracellular (Potential).		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.698G>A	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.096261	0.01843	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.16597	2.33;2.33;2.33	5.42	-0.634	0.11516	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.724899	0.13080	N	0.415351	T	0.09730	0.0239	L	0.28344	0.845	0.21020	N	0.999804	B;B;B	0.20164	0.042;0.018;0.001	B;B;B	0.22601	0.04;0.028;0.012	T	0.43196	-0.9406	10	0.08381	T	0.77	.	9.157	0.36998	0.0:0.5607:0.0:0.4393	.	141;200;233	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	N	233;200;141	ENSP00000326407:S233N;ENSP00000415048:S200N;ENSP00000417010:S141N	ENSP00000326407:S233N	S	-	2	0	CLEC1A	10115344	0.157000	0.22836	0.034000	0.17996	0.578000	0.36192	-0.765000	0.04730	-0.459000	0.07013	-0.253000	0.11424	AGC		PASS	0.383	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		33	83	33	83	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546665	11546665	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:11546665C>G	ENST00000389362.4	-	3	382	c.347G>C	c.(346-348)gGa>gCa	p.G116A	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.G95A(1)|p.G116A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGA	0.597																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(346-348)GGA>GCA		proline-rich protein BstNI subfamily 2							332.0	345.0	340.0					12																	11546665		2203	4300	6503	SO:0001583	missense	653247							g.chr12:11546665C>G	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.347G>C	12.37:g.11546665C>G	ENSP00000374013:p.Gly116Ala						p.G116A	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	382	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.347G>C	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.044	0.376487	0.11466	.	.	ENSG00000121335	ENST00000389362	T	0.07327	3.2	0.418	-0.736	0.11133	.	0.237337	0.19572	U	0.111070	T	0.07638	0.0192	M	0.79123	2.44	0.09310	N	1	P	0.43701	0.815	B	0.37422	0.249	T	0.37641	-0.9697	10	0.11485	T	0.65	.	4.5199	0.11954	0.0:0.6808:0.0:0.3192	.	116	P02812	PRB2_HUMAN	A	116	ENSP00000374013:G116A	ENSP00000374013:G116A	G	-	2	0	PRB2	11437932	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	0.131000	0.15870	-0.422000	0.07405	0.186000	0.17326	GGA		PASS	0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		10	372	10	372	---	---	---	---
GPRC5A	9052	broad.mit.edu	37	12	13061863	13061863	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:13061863G>T	ENST00000014914.5	+	2	1570	c.680G>T	c.(679-681)tGg>tTg	p.W227L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	227					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W227L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGGGTGGCCTGGATCACCCTG	0.572																																						uc001rba.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TGG>TTG		G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)						178.0	152.0	161.0					12																	13061863		2203	4300	6503	SO:0001583	missense	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061863G>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.680G>T	12.37:g.13061863G>T	ENSP00000014914:p.Trp227Leu					GPRC5A_uc001raz.2_Missense_Mutation_p.W227L	p.W227L	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1330	+		Prostate(47;0.141)	227			Helical; Name=6; (Potential).		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.680G>T	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420296	0.83559	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.88354	-2.37;-2.37	5.46	5.46	0.80206	GPCR, family 3, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95227	0.8452	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95417	0.8503	10	0.66056	D	0.02	-5.5129	19.3032	0.94151	0.0:0.0:1.0:0.0	.	227;227	Q8NFJ5;A8K556	RAI3_HUMAN;.	L	227	ENSP00000014914:W227L;ENSP00000441627:W227L	ENSP00000014914:W227L	W	+	2	0	GPRC5A	12953130	1.000000	0.71417	0.989000	0.46669	0.397000	0.30659	9.715000	0.98748	2.576000	0.86940	0.561000	0.74099	TGG		PASS	0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			33	49	33	49	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13724888	13724888	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:13724888G>C	ENST00000609686.1	-	10	2230	c.2021C>G	c.(2020-2022)cCt>cGt	p.P674R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	674					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P674R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGTCATTAGGTCTCTGGAA	0.463																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2020-2022)CCT>CGT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						77.0	64.0	68.0					12																	13724888		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724888G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2021C>G	12.37:g.13724888G>C	ENSP00000477455:p.Pro674Arg						p.P674R	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			10	2200	-			674			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2021C>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920253	0.92249	.	.	ENSG00000150086	ENST00000279593	T	0.28895	1.59	5.63	5.63	0.86233	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67341	-0.5695	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	674	Q13224	NMDE2_HUMAN	R	674	ENSP00000279593:P674R	ENSP00000279593:P674R	P	-	2	0	GRIN2B	13616155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CCT		PASS	0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	12	10	12	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21229461	21229461	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:21229461G>T	ENST00000421593.2	+	12	1682	c.1682G>T	c.(1681-1683)gGa>gTa	p.G561V	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G669V|LST3_ENST00000540229.1_Missense_Mutation_p.G669V|RP11-125O5.2_ENST00000590779.1_Nonsense_Mutation_p.E62*|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G608V|LST3_ENST00000381541.3_Missense_Mutation_p.G608V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	561						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G561V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AACAGCTGTGGAGCACGAGGG	0.353																																						uc010sil.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2005-2007)GGA>GTA		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							176.0	187.0	184.0					12																	21229461		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229461G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1682G>T	12.37:g.21229461G>T	ENSP00000394168:p.Gly561Val					LST-3TM12_uc010sim.1_Missense_Mutation_p.G608V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G561V	p.G669V			Q9NPD5	SO1B3_HUMAN			15	2071	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2006G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.119134	0.37436	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;T	0.52295	1.04;0.67;1.04;0.67;0.67;0.67	2.4	2.4	0.29515	.	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.995;1.0	T	0.77104	-0.2711	10	0.87932	D	0	.	9.9439	0.41598	0.0:0.0:1.0:0.0	.	561;608;669	G3V0H7;F5H094;Q5JAR4	.;.;.	V	669;608;669;608;561;70	ENSP00000451758:G669V;ENSP00000370952:G608V;ENSP00000441269:G669V;ENSP00000452013:G608V;ENSP00000394168:G561V;ENSP00000439857:G70V	ENSP00000370952:G608V	G	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120728	1.000000	0.71417	0.030000	0.17652	0.488000	0.33401	4.939000	0.63526	1.322000	0.45245	0.205000	0.17691	GGA		PASS	0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		41	70	41	70	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21712602	21712602	+	Silent	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:21712602G>C	ENST00000261195.2	-	9	1466	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	404					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.L404L(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGCATCATAGAGTTTTTTTC	0.279																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(1210-1212)CTC>CTG		glycogen synthase 2							108.0	115.0	113.0					12																	21712602		2202	4295	6497	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21712602G>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1212C>G	12.37:g.21712602G>C							p.L404L	NM_021957	NP_068776	P54840	GYS2_HUMAN			9	1467	-			404					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1212C>G	CCDS8690.1																																																																																				PASS	0.279	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		4	12	4	12	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27832534	27832534	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:27832534C>A	ENST00000318304.8	+	19	2029	c.1746C>A	c.(1744-1746)tcC>tcA	p.S582S	PPFIBP1_ENST00000542629.1_Silent_p.S551S|PPFIBP1_ENST00000537927.1_Silent_p.S429S|PPFIBP1_ENST00000228425.6_Silent_p.S576S	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	582					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.S582S(1)|p.S576S(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCCAGATTCCAAAAAGAAAT	0.458																																						uc001ric.1																		PPFIBP1/ALK(3)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(3)|kidney(1)|skin(1)	5						c.(1744-1746)TCC>TCA		PTPRF interacting protein binding protein 1							121.0	129.0	126.0					12																	27832534		2203	4300	6503	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832534C>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1746C>A	12.37:g.27832534C>A						PPFIBP1_uc010sjr.1_Silent_p.S413S|PPFIBP1_uc001rib.1_Silent_p.S576S|PPFIBP1_uc001ria.2_Silent_p.S551S|PPFIBP1_uc001rid.1_Silent_p.S429S|PPFIBP1_uc001rif.1_Silent_p.S89S	p.S582S	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			19	2123	+	Lung SC(9;0.0873)		582					O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.1746C>A	CCDS55812.1																																																																																				PASS	0.458	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		6	148	6	148	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31282805	31282805	+	IGR	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:31282805T>A								RP11-551L14.1 (12400 upstream) : FAM60A (150712 downstream)														p.S1027C(1)									GTAAGAGCACTGAGCCTGTAA	0.348																																						uc010sjy.1																			1	Substitution - Missense(1)		lung(1)								c.(3079-3081)AGT>TGT		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							34.0	26.0	29.0					12																	31282805		1842	4098	5940	SO:0001628	intergenic_variant	0							g.chr12:31282805T>A																													12.37:g.31282805T>A							p.S1027C							24	3079	-									Missense_Mutation	SNP		37	c.3079A>T																																																																																				0	PASS	0.348									7	12	7	12	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420600	49420600	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:49420600A>C	ENST00000301067.7	-	48	15148	c.15149T>G	c.(15148-15150)cTg>cGg	p.L5050R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5050					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L5050R(1)|p.L4780R(1)									GTCCAGGTTCAGCAGACGGGC	0.622																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15148-15150)CTG>CGG		myeloid/lymphoid or mixed-lineage leukemia 2							66.0	72.0	70.0					12																	49420600		2120	4218	6338	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420600A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15149T>G	12.37:g.49420600A>C	ENSP00000301067:p.Leu5050Arg	HNSCC(34;0.089)					p.L5050R	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15149	-			5050					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15149T>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149682	0.37923	.	.	ENSG00000167548	ENST00000301067	D	0.84146	-1.81	4.86	4.86	0.63082	.	0.000000	0.31156	N	0.008151	D	0.92299	0.7557	M	0.83603	2.65	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.93406	0.6764	10	0.87932	D	0	.	13.7565	0.62940	1.0:0.0:0.0:0.0	.	5050	O14686	MLL2_HUMAN	R	5050	ENSP00000301067:L5050R	ENSP00000301067:L5050R	L	-	2	0	MLL2	47706867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.472000	0.80996	1.964000	0.57103	0.533000	0.62120	CTG		PASS	0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	54	6	54	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54794636	54794636	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:54794636G>A	ENST00000293379.4	-	25	2898	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	879					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.G879G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACCTCCAGGCCCTTTGGGT	0.572																																						uc001sga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2635-2637)GGC>GGT		integrin alpha 5 precursor							103.0	86.0	91.0					12																	54794636		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54794636G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2637C>T	12.37:g.54794636G>A							p.G879G	NM_002205	NP_002196	P08648	ITA5_HUMAN			25	2705	-			879			Extracellular (Potential).		Q96HA5	Silent	SNP	ENST00000293379.4	37	c.2637C>T	CCDS8880.1																																																																																				PASS	0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			12	19	12	19	---	---	---	---
TSPAN31	6302	broad.mit.edu	37	12	58135800	58135800	+	5'Flank	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:58135800G>T	ENST00000257910.3	+	0	0				TSPAN31_ENST00000553221.1_Intron|AGAP2_ENST00000257897.3_Missense_Mutation_p.H19N	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.H19N(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCACCTCATGTCGTCTGACT	0.587																																						uc001spr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(2)	5						c.(55-57)CAT>AAT		centaurin, gamma 1 isoform PIKE-S							209.0	167.0	181.0					12																	58135800		2203	4300	6503	SO:0001631	upstream_gene_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58135800G>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135800G>T	Exception_encountered					TSPAN31_uc001spt.2_5'Flank|TSPAN31_uc009zqb.2_5'Flank	p.H19N	NM_014770	NP_055585	Q99490	AGAP2_HUMAN			1	141	-			Error:Variant_position_missing_in_Q99490_after_alignment					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.55C>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.081189	0.36758	.	.	ENSG00000135439	ENST00000257897	T	0.31510	1.49	4.76	4.76	0.60689	.	.	.	.	.	T	0.44767	0.1309	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.53146	0.719	T	0.48222	-0.9054	8	0.87932	D	0	.	13.6997	0.62602	0.0:0.0:1.0:0.0	.	19	Q99490-2	.	N	19	ENSP00000257897:H19N	ENSP00000257897:H19N	H	-	1	0	AGAP2	56422067	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.921000	0.56454	2.375000	0.81037	0.282000	0.19409	CAT		PASS	0.587	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			22	46	22	46	---	---	---	---
LEMD3	23592	broad.mit.edu	37	12	65633948	65633948	+	Nonsense_Mutation	SNP	G	G	T	rs147072982	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:65633948G>T	ENST00000308330.2	+	8	2082	c.2056G>T	c.(2056-2058)Gaa>Taa	p.E686*		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	686					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.E686*(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGCCTGCCAGGAAAACAAAGA	0.328																																						uc001ssl.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2056-2058)GAA>TAA		LEM domain containing 3							130.0	123.0	126.0					12																	65633948		2203	4300	6503	SO:0001587	stop_gained	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65633948G>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2056G>T	12.37:g.65633948G>T	ENSP00000308369:p.Glu686*					LEMD3_uc009zqo.1_Nonsense_Mutation_p.E685*	p.E686*	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	8	2062	+			686					Q9NT47|Q9NYA5	Nonsense_Mutation	SNP	ENST00000308330.2	37	c.2056G>T	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	40	8.076372	0.98640	.	.	ENSG00000174106	ENST00000308330	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.1796	19.2527	0.93932	0.0:0.0:1.0:0.0	.	.	.	.	X	686	.	.	E	+	1	0	LEMD3	63920215	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.063000	0.76714	2.706000	0.92434	0.591000	0.81541	GAA		PASS	0.328	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			13	29	13	29	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66700214	66700214	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:66700214A>T	ENST00000247815.4	+	3	756	c.697A>T	c.(697-699)Ata>Tta	p.I233L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	233					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.I233L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAATGGATCATAGGGTCAGG	0.358																																						uc001sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(697-699)ATA>TTA		helicase (DNA) B							114.0	118.0	117.0					12																	66700214		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700214A>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.697A>T	12.37:g.66700214A>T	ENSP00000247815:p.Ile233Leu					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.I233L	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	725	+			233					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.697A>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	7.041	0.562619	0.13498	.	.	ENSG00000127311	ENST00000247815	T	0.09350	2.99	5.9	-1.44	0.08856	.	0.350421	0.28989	N	0.013485	T	0.06142	0.0159	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29336	-1.0015	9	.	.	.	-14.1967	2.3101	0.04184	0.4462:0.2864:0.0766:0.1908	.	233	Q8NG08	HELB_HUMAN	L	233	ENSP00000247815:I233L	.	I	+	1	0	HELB	64986481	0.000000	0.05858	0.008000	0.14137	0.099000	0.18886	-0.124000	0.10595	0.123000	0.18342	-0.466000	0.05196	ATA		PASS	0.358	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			18	35	18	35	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81769626	81769626	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:81769626C>T	ENST00000549396.1	-	10	1240	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	PPFIA2_ENST00000548586.1_Missense_Mutation_p.M360I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M286I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M207I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M342I|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.M360I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M342I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M261I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M360I|RP11-315E17.1_ENST00000546936.1_RNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	360	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.M360I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTTATCATTCATGTCATGTA	0.408																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(1078-1080)ATG>ATA		PTPRF interacting protein alpha 2							210.0	198.0	201.0					12																	81769626		1916	4130	6046	SO:0001583	missense	8499							g.chr12:81769626C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1080G>A	12.37:g.81769626C>T	ENSP00000450337:p.Met360Ile					PPFIA2_uc010sue.1_Missense_Mutation_p.M260I|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.M360I	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			10	1241	-			286					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1080G>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387818	0.42308	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.77358	1.49;1.49;1.49;-1.09;1.49;1.49;1.49	5.45	4.54	0.55810	.	0.048338	0.85682	D	0.000000	T	0.51534	0.1680	N	0.01705	-0.755	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48768	-0.9006	10	0.39692	T	0.17	-11.6399	9.767	0.40567	0.0:0.7852:0.1417:0.073	.	260;360	B7Z4H8;O75334	.;LIPA2_HUMAN	I	360;342;286;371;342;360;261;360	ENSP00000450337:M360I;ENSP00000450298:M342I;ENSP00000385093:M286I;ENSP00000327416:M342I;ENSP00000449338:M360I;ENSP00000388373:M261I;ENSP00000447868:M360I	ENSP00000327416:M342I	M	-	3	0	PPFIA2	80293757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.303000	0.59098	1.387000	0.46486	0.650000	0.86243	ATG		PASS	0.408	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			8	15	8	15	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199616	86199616	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:86199616C>T	ENST00000361228.3	-	2	540	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	58	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.E58K(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGTTCCTCAAGCAAAGCC	0.488																																						uc001taf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(172-174)GAG>AAG		Ras association (RalGDS/AF-6) domain family							122.0	120.0	121.0					12																	86199616		1947	4168	6115	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199616C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.172G>A	12.37:g.86199616C>T	ENSP00000354884:p.Glu58Lys						p.E58K	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	511	-			58			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.172G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389900	0.82902	.	.	ENSG00000198774	ENST00000361228	T	0.49720	0.77	4.82	4.82	0.62117	Ras-association (2);	0.060719	0.64402	D	0.000007	T	0.68229	0.2978	M	0.71581	2.175	0.52501	D	0.999959	D	0.76494	0.999	D	0.70227	0.968	T	0.71925	-0.4445	10	0.62326	D	0.03	-11.3168	18.2669	0.90055	0.0:1.0:0.0:0.0	.	58	O75901	RASF9_HUMAN	K	58	ENSP00000354884:E58K	ENSP00000354884:E58K	E	-	1	0	RASSF9	84723747	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.902000	0.69869	2.397000	0.81536	0.514000	0.50259	GAG		PASS	0.488	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			39	91	39	91	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109849790	109849790	+	Splice_Site	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:109849790C>T	ENST00000431443.2	+	13	1484	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	MYO1H_ENST00000310903.5_Splice_Site_p.T485I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	495	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T485I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CACTTCGAAACGTACATACTT	0.393																																						uc010sxn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1453-1455)ACC>ATC		myosin 1H							77.0	67.0	70.0					12																	109849790		1869	4116	5985	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109849790C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1484+1C>T	12.37:g.109849790C>T							p.T485I	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			13	1454	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.1454C>T		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286498	0.80803	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87412	-2.25;-2.25	5.08	5.08	0.68730	.	.	.	.	.	D	0.92064	0.7485	M	0.66506	2.035	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.93009	0.6430	9	0.87932	D	0	.	17.0174	0.86423	0.0:1.0:0.0:0.0	.	485	F5H3C6	.	I	485;495	ENSP00000439182:T485I;ENSP00000444076:T495I	ENSP00000439182:T485I	T	+	2	0	MYO1H	108334173	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.456000	0.80751	2.362000	0.80069	0.563000	0.77884	ACC		PASS	0.393	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Missense_Mutation	6	7	6	7	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124401007	124401007	+	Missense_Mutation	SNP	G	G	A	rs368588563		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:124401007G>A	ENST00000409039.3	+	62	10397	c.10372G>A	c.(10372-10374)Gct>Act	p.A3458T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3458	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2050T(1)|p.A3458T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTCCAGGTCGCTTCCTTTAA	0.507																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10372-10374)GCT>ACT		dynein, axonemal, heavy chain 10		G	THR/ALA	0,4084		0,0,2042	117.0	119.0	119.0		10372	4.7	0.3	12		119	3,8391		0,3,4194	no	missense	DNAH10	NM_207437.3	58	0,3,6236	AA,AG,GG		0.0357,0.0,0.024	benign	3458/4472	124401007	3,12475	2042	4197	6239	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124401007G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10372G>A	12.37:g.124401007G>A	ENSP00000386770:p.Ala3458Thr						p.A3458T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	62	10397	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3458			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10372G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	3.786	-0.044686	0.07452	0.0	3.57E-4	ENSG00000197653	ENST00000409039	T	0.20881	2.04	4.74	4.74	0.60224	.	0.726601	0.12676	N	0.448382	T	0.06735	0.0172	N	0.01015	-1.05	0.38884	D	0.956969	B	0.27416	0.178	B	0.21708	0.036	T	0.20638	-1.0269	10	0.07482	T	0.82	.	12.6001	0.56492	0.0:0.0:0.6864:0.3136	.	3458	Q8IVF4	DYH10_HUMAN	T	3458	ENSP00000386770:A3458T	ENSP00000386770:A3458T	A	+	1	0	DNAH10	122966960	1.000000	0.71417	0.277000	0.24703	0.493000	0.33554	4.196000	0.58407	2.177000	0.69029	0.561000	0.74099	GCT		PASS	0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			44	76	44	76	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133327335	133327335	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr12:133327335C>G	ENST00000357997.5	-	3	830	c.741G>C	c.(739-741)gaG>gaC	p.E247D	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E185D|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E247D	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	247					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E247D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAGCAAATTTCTCAGCGTCTT	0.393																																						uc001ukx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GAG>GAC		ankyrin repeat and LEM domain containing 2							143.0	137.0	139.0					12																	133327335		1833	4100	5933	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327335C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.741G>C	12.37:g.133327335C>G	ENSP00000350686:p.Glu247Asp					ANKLE2_uc001uky.3_Missense_Mutation_p.E185D	p.E247D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	808	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	247					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.741G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.663262	0.67700	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.34859	1.73;1.69;1.34	5.72	2.81	0.32909	Ribonuclease H1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.79475	2.455	0.52099	D	0.999948	D;D	0.71674	0.998;0.997	D;P	0.65010	0.931;0.89	T	0.51949	-0.8640	10	0.41790	T	0.15	-9.0113	9.2037	0.37275	0.0:0.7551:0.0:0.2449	.	247;247	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	D	185;247;247;17	ENSP00000446268:E185D;ENSP00000350686:E247D;ENSP00000337651:E247D	ENSP00000337651:E247D	E	-	3	2	ANKLE2	131837408	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.054000	0.30455	0.698000	0.31739	0.650000	0.86243	GAG		PASS	0.393	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			12	33	12	33	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38154048	38154048	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:38154048G>T	ENST00000379747.4	-	12	1727	c.1610C>A	c.(1609-1611)aCc>aAc	p.T537N	POSTN_ENST00000379742.4_Missense_Mutation_p.T537N|POSTN_ENST00000379749.4_Missense_Mutation_p.T537N|POSTN_ENST00000379743.4_Missense_Mutation_p.T537N|POSTN_ENST00000541179.1_Missense_Mutation_p.T537N|POSTN_ENST00000541481.1_Missense_Mutation_p.T537N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	537	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.T537N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGCATCATTGGTTGGCACAAA	0.408																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1609-1611)ACC>AAC		periostin, osteoblast specific factor isoform 1							152.0	138.0	143.0					13																	38154048		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154048G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1610C>A	13.37:g.38154048G>T	ENSP00000369071:p.Thr537Asn					POSTN_uc010tet.1_Missense_Mutation_p.T65N|POSTN_uc001uwp.3_Missense_Mutation_p.T537N|POSTN_uc001uwr.2_Missense_Mutation_p.T537N|POSTN_uc001uwq.2_Missense_Mutation_p.T537N|POSTN_uc010teu.1_Missense_Mutation_p.T537N|POSTN_uc010tev.1_Missense_Mutation_p.T537N|POSTN_uc010tew.1_Missense_Mutation_p.T537N|POSTN_uc010tex.1_Missense_Mutation_p.T452N	p.T537N	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	12	1728	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	537			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1610C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003446	0.74932	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.42	5.42	0.78866	FAS1 domain (5);	0.041549	0.85682	D	0.000000	D	0.95392	0.8504	M	0.76938	2.355	0.51767	D	0.999939	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.997;0.999;0.996	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.975;0.998;0.993;0.981;0.975	D	0.94582	0.7780	10	0.45353	T	0.12	.	19.5696	0.95406	0.0:0.0:1.0:0.0	.	537;537;537;537;537;537;537	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	N	537	ENSP00000437959:T537N;ENSP00000369073:T537N;ENSP00000369071:T537N;ENSP00000369067:T537N;ENSP00000369066:T537N;ENSP00000437953:T537N	ENSP00000369066:T537N	T	-	2	0	POSTN	37052048	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.149000	0.58091	2.700000	0.92200	0.591000	0.81541	ACC		PASS	0.408	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		14	29	14	29	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38357173	38357173	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:38357173G>T	ENST00000379705.3	-	2	1155	c.298C>A	c.(298-300)Cta>Ata	p.L100I	TRPC4_ENST00000338947.5_Missense_Mutation_p.L100I|TRPC4_ENST00000358477.2_Missense_Mutation_p.L100I|TRPC4_ENST00000379681.3_Missense_Mutation_p.L100I|TRPC4_ENST00000379679.1_Missense_Mutation_p.L100I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L100I|TRPC4_ENST00000379673.2_Missense_Mutation_p.L100I|TRPC4_ENST00000426868.2_Missense_Mutation_p.L100I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L100I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	100	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L100I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCATGTAATAGAGCATCTCCA	0.398																																						uc001uws.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(298-300)CTA>ATA		transient receptor potential cation channel,							69.0	68.0	68.0					13																	38357173		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357173G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.298C>A	13.37:g.38357173G>T	ENSP00000369027:p.Leu100Ile					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L100I|TRPC4_uc010tey.1_Missense_Mutation_p.L100I|TRPC4_uc010abw.2_Missense_Mutation_p.L100I|TRPC4_uc010abx.2_Missense_Mutation_p.L100I|TRPC4_uc010aby.2_Missense_Mutation_p.L100I	p.L100I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	533	-			100			ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.298C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720293	0.68959	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	6.01	5.17	0.71159	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88676	0.6501	M	0.79614	2.46	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;0.966;0.996;0.996;1.0;1.0	D;P;D;D;D;D	0.91635	0.999;0.822;0.986;0.986;0.999;0.999	D	0.86949	0.2084	10	0.22109	T	0.4	-13.0958	15.128	0.72497	0.0673:0.0:0.9327:0.0	.	100;100;100;100;100;100	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	100	ENSP00000369027:L100I;ENSP00000369003:L100I;ENSP00000342580:L100I;ENSP00000369001:L100I;ENSP00000410133:L100I;ENSP00000348025:L100I;ENSP00000351264:L100I;ENSP00000368995:L100I;ENSP00000414316:L100I	ENSP00000342580:L100I	L	-	1	2	TRPC4	37255173	1.000000	0.71417	0.310000	0.25168	0.526000	0.34562	5.794000	0.69067	1.558000	0.49541	0.650000	0.86243	CTA		PASS	0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		11	20	11	20	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53419706	53419706	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:53419706C>G	ENST00000377942.3	-	2	2896	c.2693G>C	c.(2692-2694)gGa>gCa	p.G898A	PCDH8_ENST00000338862.4_Missense_Mutation_p.G801A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	898					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G898A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAAGGAGTGTCCTTTCCACAC	0.587																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2692-2694)GGA>GCA		protocadherin 8 isoform 1 precursor							88.0	72.0	78.0					13																	53419706		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419706C>G	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2693G>C	13.37:g.53419706C>G	ENSP00000367177:p.Gly898Ala					PCDH8_uc001vhj.2_Missense_Mutation_p.G801A	p.G898A	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2896	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	898			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2693G>C	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773836	0.49786	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.57436	0.54;0.4	4.81	4.81	0.61882	.	0.000000	0.39687	N	0.001294	T	0.57036	0.2026	L	0.34521	1.04	0.40543	D	0.981046	D;D	0.76494	0.999;0.998	D;P	0.67103	0.949;0.89	T	0.51395	-0.8711	10	0.02654	T	1	.	17.8658	0.88794	0.0:1.0:0.0:0.0	.	801;898	O95206-2;O95206	.;PCDH8_HUMAN	A	898;801;424;741	ENSP00000367177:G898A;ENSP00000341350:G801A	ENSP00000341350:G801A	G	-	2	0	PCDH8	52317707	1.000000	0.71417	0.981000	0.43875	0.503000	0.33858	5.814000	0.69208	2.188000	0.69820	0.462000	0.41574	GGA		PASS	0.587	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		11	29	11	29	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60590048	60590048	+	Splice_Site	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:60590048T>A	ENST00000400324.4	-	7	990	c.770A>T	c.(769-771)cAg>cTg	p.Q257L	DIAPH3_ENST00000377908.2_Splice_Site_p.Q246L|DIAPH3_ENST00000267215.4_Splice_Site_p.Q257L|DIAPH3_ENST00000400319.1_Splice_Site_p.Q187L|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400330.1_Splice_Site_p.Q257L|DIAPH3_ENST00000465066.1_5'Flank|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000400320.1_Splice_Site_p.Q211L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	257	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q257L(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGTACATACCTGCGTATTCAT	0.313																																						uc001vht.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(769-771)CAG>CTG		diaphanous homolog 3 isoform a							188.0	162.0	170.0					13																	60590048		1841	4090	5931	SO:0001630	splice_region_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60590048T>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.771+1A>T	13.37:g.60590048T>A						DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.Q246L|DIAPH3_uc010aed.1_Missense_Mutation_p.Q211L|DIAPH3_uc010aee.1_Missense_Mutation_p.Q187L|uc001vhx.2_Intron|uc001vhy.2_Intron	p.Q257L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	7	989	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	257			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.770A>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037243	0.75617	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.93	5.93	0.95920	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.051299	0.85682	D	0.000000	D	0.88584	0.6476	L	0.57536	1.79	0.49299	D	0.999774	P;P;P;P	0.43231	0.536;0.673;0.673;0.801	B;B;B;B	0.43445	0.42;0.42;0.42;0.258	D	0.89269	0.3603	10	0.59425	D	0.04	.	14.6242	0.68608	0.0:0.0:0.0:1.0	.	187;211;246;257	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	L	257;257;246;211;187;246;187;211;257;257	ENSP00000383178:Q257L;ENSP00000383184:Q257L;ENSP00000367141:Q246L;ENSP00000383173:Q187L;ENSP00000383174:Q211L;ENSP00000267215:Q257L	ENSP00000267215:Q257L	Q	-	2	0	DIAPH3	59488049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.281000	0.78621	2.281000	0.76405	0.533000	0.62120	CAG		PASS	0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	Missense_Mutation	4	6	4	6	---	---	---	---
UCHL3	7347	broad.mit.edu	37	13	76179926	76179926	+	Missense_Mutation	SNP	C	C	T	rs139878255		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:76179926C>T	ENST00000377595.3	+	9	701	c.671C>T	c.(670-672)gCg>gTg	p.A224V	RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR|RP11-173B14.5_ENST00000568302.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	224	Interaction with ubiquitin.				protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A224V(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGATTTAATGCGATTGCTCTT	0.338																																						uc001vjq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GCG>GTG		ubiquitin carboxyl-terminal esterase L3		C	VAL/ALA	0,4406		0,0,2203	148.0	144.0	145.0		671	5.2	1.0	13	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense	UCHL3	NM_006002.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	224/231	76179926	1,13005	2203	4300	6503	SO:0001583	missense	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76179926C>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.671C>T	13.37:g.76179926C>T	ENSP00000366819:p.Ala224Val					UCHL3_uc001vjr.2_Missense_Mutation_p.A188V	p.A224V	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	9	701	+			224			Interaction with ubiquitin.		B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	c.671C>T	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	C	5.680	0.310073	0.10733	0.0	1.16E-4	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.39592	1.07;1.07	6.02	5.18	0.71444	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.119737	0.64402	D	0.000017	T	0.10208	0.0250	N	0.00496	-1.435	0.38737	D	0.953798	B	0.31026	0.304	B	0.12156	0.007	T	0.33979	-0.9847	10	0.02654	T	1	-16.0801	10.5139	0.44879	0.0:0.8506:0.0:0.1494	.	224	P15374	UCHL3_HUMAN	V	224;245;222	ENSP00000366819:A224V;ENSP00000398189:A222V	ENSP00000366813:A245V	A	+	2	0	UCHL3	75077927	0.998000	0.40836	0.991000	0.47740	0.997000	0.91878	3.994000	0.56994	1.565000	0.49641	0.655000	0.94253	GCG		PASS	0.338	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		5	21	5	21	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	107822900	107822900	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:107822900C>T	ENST00000375915.2	-	3	1460	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	441						integral component of membrane (GO:0016021)		p.G441E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAAGCTCAGTCCGGCTGTGTT	0.527																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1321-1323)GGA>GAA		family with sequence similarity 155, member A							138.0	110.0	119.0					13																	107822900		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107822900C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1322G>A	13.37:g.107822900C>T	ENSP00000365080:p.Gly441Glu						p.G441E	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			3	1838	-			441					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1322G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	7.038	0.561996	0.13498	.	.	ENSG00000204442	ENST00000375915	T	0.11821	2.74	5.55	1.79	0.24919	.	0.734274	0.13052	N	0.417594	T	0.12050	0.0293	L	0.34521	1.04	0.20926	N	0.999825	B	0.09022	0.002	B	0.12837	0.008	T	0.24261	-1.0165	10	0.59425	D	0.04	.	11.9667	0.53040	0.0:0.3844:0.5433:0.0724	.	441	B1AL88	F155A_HUMAN	E	441	ENSP00000365080:G441E	ENSP00000365080:G441E	G	-	2	0	FAM155A	106620901	0.808000	0.29022	0.000000	0.03702	0.004000	0.04260	0.956000	0.29202	0.019000	0.15079	0.638000	0.83543	GGA		PASS	0.527	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		15	25	15	25	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109704819	109704819	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:109704819G>T	ENST00000357550.2	+	24	3019	c.2978G>T	c.(2977-2979)aGt>aTt	p.S993I	MYO16_ENST00000356711.2_Missense_Mutation_p.S993I|MYO16_ENST00000457511.2_Missense_Mutation_p.S505I	NM_001198950.1	NP_001185879.1			myosin XVI									p.S993I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTAGAACTTAGTAAGGTAGGA	0.279																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2977-2979)AGT>ATT		myosin heavy chain Myr 8							60.0	61.0	60.0					13																	109704819		2203	4299	6502	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109704819G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2978G>T	13.37:g.109704819G>T	ENSP00000350160:p.Ser993Ile					MYO16_uc010agk.1_Missense_Mutation_p.S1015I|MYO16_uc001vqu.1_Missense_Mutation_p.S793I|MYO16_uc010tjh.1_Missense_Mutation_p.S505I	p.S993I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		25	3104	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		993			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2978G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235797	0.58886	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	5.66	0.87406	Myosin head, motor domain (2);	0.000000	0.48286	U	0.000186	D	0.92185	0.7522	M	0.73430	2.235	0.40508	D	0.980712	D;P;D	0.57899	0.976;0.935;0.981	P;P;P	0.58520	0.84;0.51;0.812	D	0.91929	0.5553	9	.	.	.	.	18.7242	0.91708	0.0:0.0:1.0:0.0	.	505;993;993	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	I	993;993;781;505	ENSP00000349145:S993I;ENSP00000350160:S993I;ENSP00000401633:S505I	.	S	+	2	0	MYO16	108502820	0.999000	0.42202	0.653000	0.29593	0.978000	0.69477	3.098000	0.50259	2.669000	0.90835	0.591000	0.81541	AGT		PASS	0.279	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		20	26	20	26	---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111290867	111290867	+	IGR	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:111290867G>C	ENST00000257347.4	-	0	1879				CARKD_ENST00000458711.2_Missense_Mutation_p.E215Q|CARKD_ENST00000309957.2_Nonstop_Mutation_p.*391S|CARKD_ENST00000424185.2_Missense_Mutation_p.E236Q|CARKD_ENST00000470164.2_3'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)	p.*391S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CAAGCTCTTTGAAACCTGAGC	0.617																																						uc001vrb.2																			1	Nonstop extension(1)		lung(1)	skin(1)	1						c.(1036-1038)GAA>CAA		RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;							36.0	40.0	38.0					13																	111290867		2201	4300	6501	SO:0001628	intergenic_variant	55739							g.chr13:111290867G>C	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347		13.37:g.111290867G>C						CARKD_uc010tjj.1_Missense_Mutation_p.E328Q|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.E236Q|CARKD_uc010tjl.1_Missense_Mutation_p.E215Q|CARKD_uc001vrc.2_Nonstop_Mutation_p.*391S	p.E346Q			Q8IW45	CARKD_HUMAN			10	1050	+			346					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.1036G>C	CCDS9514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.837|6.837	0.523712|0.523712	0.13066|0.13066	.|.	.|.	ENSG00000213995|ENSG00000213995	ENST00000458711;ENST00000424185|ENST00000309957	T|.	0.27104|.	1.69|.	5.4|5.4	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|.	0.69052|.	0.3068|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.994;0.996;0.996|.	P;D;D|.	0.65874|.	0.846;0.917;0.939|.	T|.	0.67799|.	-0.5577|.	8|.	0.56958|.	D|.	0.05|.	.|.	13.2338|13.2338	0.59958|0.59958	0.078:0.0:0.922:0.0|0.078:0.0:0.922:0.0	.|.	215;236;346|.	B4DQR1;Q8IW45-4;Q8IW45|.	.;.;CARKD_HUMAN|.	Q|S	215;236|391	ENSP00000413191:E236Q|.	ENSP00000413191:E236Q|.	E|X	+|+	1|2	0|2	CARKD|CARKD	110088868|110088868	1.000000|1.000000	0.71417|0.71417	0.265000|0.265000	0.24526|0.24526	0.020000|0.020000	0.10135|0.10135	7.397000|7.397000	0.79903|0.79903	1.239000|1.239000	0.43787|0.43787	0.561000|0.561000	0.74099|0.74099	GAA|TGA		PASS	0.617	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		3	32	3	32	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115091162	115091162	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr13:115091162C>A	ENST00000361283.1	+	3	2154	c.1845C>A	c.(1843-1845)tcC>tcA	p.S615S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	615	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S615S(1)									TATTTCCTTCCTCAAAGAAGC	0.373																																						uc010ahb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1843-1845)TCC>TCA		zinc finger protein 828							99.0	113.0	108.0					13																	115091162		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091162C>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1845C>A	13.37:g.115091162C>A						ZNF828_uc001vuv.2_Silent_p.S615S|ZNF828_uc010tko.1_Silent_p.S615S	p.S615S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	2174	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	615			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1845C>A	CCDS9545.1																																																																																				PASS	0.373	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		6	140	6	140	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216261	20216261	+	Silent	SNP	C	C	A	rs140842827	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:20216261C>A	ENST00000331723.1	+	1	675	c.675C>A	c.(673-675)acC>acA	p.T225T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T225T(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTGATCACCCTGAGAACAC	0.493																																						uc010tkt.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(673-675)ACC>ACA		olfactory receptor, family 4, subfamily Q,							178.0	149.0	159.0					14																	20216261		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216261C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.675C>A	14.37:g.20216261C>A							p.T225T	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	675	+	all_cancers(95;0.00108)		225			Cytoplasmic (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.675C>A	CCDS32020.1																																																																																				PASS	0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			6	100	6	100	---	---	---	---
METTL17	64745	broad.mit.edu	37	14	21464794	21464794	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:21464794C>T	ENST00000339374.6	+	13	1422	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	METTL17_ENST00000556670.2_Missense_Mutation_p.R397C|METTL17_ENST00000382985.4_Missense_Mutation_p.R397C|RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000298681.4_5'Flank|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	397					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.R397C(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TAAACGGCCTCGCCATGTGCA	0.572																																						uc001vyn.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1189-1191)CGC>TGC		methyltransferase 11 domain containing 1 isoform							72.0	61.0	65.0					14																	21464794		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464794C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1189C>T	14.37:g.21464794C>T	ENSP00000343041:p.Arg397Cys					METT11D1_uc001vym.2_Missense_Mutation_p.R397C|METT11D1_uc001vyo.2_Missense_Mutation_p.R397C|METT11D1_uc001vyp.2_Missense_Mutation_p.R239C|METT11D1_uc001vyq.2_Missense_Mutation_p.R239C|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	p.R397C	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1386	+	all_cancers(95;0.00267)		397					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1189C>T	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.233947|3.233947	0.58886|0.58886	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000556733	T;T|.	0.31247|.	1.5;1.5|.	5.34|5.34	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71796|0.71796	0.3382|0.3382	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.71909|0.71909	-0.4450|-0.4450	10|5	0.62326|.	D|.	0.03|.	.|.	13.2357|13.2357	0.59969|0.59969	0.1601:0.8399:0.0:0.0|0.1601:0.8399:0.0:0.0	.|.	397;397;397|.	Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;MET17_HUMAN;.|.	C|L	397|72	ENSP00000343041:R397C;ENSP00000372445:R397C|.	ENSP00000343041:R397C|.	R|S	+|+	1|2	0|0	METTL17|METTL17	20534634|20534634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.408000|0.408000	0.30992|0.30992	4.549000|4.549000	0.60726|0.60726	1.246000|1.246000	0.43901|0.43901	-0.169000|-0.169000	0.13324|0.13324	CGC|TCG		PASS	0.572	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		15	20	15	20	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23345565	23345565	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:23345565C>G	ENST00000359591.4	+	5	2099	c.1408C>G	c.(1408-1410)Cgc>Ggc	p.R470G	LRP10_ENST00000546834.1_Missense_Mutation_p.R470G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	470					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R470G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTATGCCATTCGCACCCAGGA	0.607																																						uc001whd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1408-1410)CGC>GGC		low density lipoprotein receptor-related protein							61.0	58.0	59.0					14																	23345565		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345565C>G	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1408C>G	14.37:g.23345565C>G	ENSP00000352601:p.Arg470Gly					LRP10_uc001whe.2_Missense_Mutation_p.R346G	p.R470G	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1961	+	all_cancers(95;4.69e-05)		470			Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1408C>G	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.354827|3.354827	0.61293|0.61293	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.95238|.	-3.65;-3.57|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.046625|.	0.85682|.	D|.	0.000000|.	T|T	0.75324|0.75324	0.3834|0.3834	M|M	0.65975|0.65975	2.015|2.015	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.71781|0.71781	-0.4489|-0.4489	10|5	0.52906|.	T|.	0.07|.	-24.9327|-24.9327	19.1994|19.1994	0.93704|0.93704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	470|.	Q7Z4F1|.	LRP10_HUMAN|.	G|W	470|371	ENSP00000352601:R470G;ENSP00000447559:R470G|.	ENSP00000352601:R470G|.	R|S	+|+	1|2	0|0	LRP10|LRP10	22415405|22415405	0.418000|0.418000	0.25440|0.25440	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	1.130000|1.130000	0.31393|0.31393	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CGC|TCG		PASS	0.607	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			3	39	3	39	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040344	24040344	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:24040344G>T	ENST00000397118.3	-	6	2498	c.1596C>A	c.(1594-1596)ctC>ctA	p.L532L	JPH4_ENST00000356300.4_Silent_p.L532L|JPH4_ENST00000544177.1_Silent_p.L197L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	532					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.L532L(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGCAGCCTCCGAGGAGTGGGG	0.677																																						uc001wkq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1594-1596)CTC>CTA		junctophilin 4							137.0	144.0	141.0					14																	24040344		2203	4300	6503	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040344G>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1596C>A	14.37:g.24040344G>T						JPH4_uc010tnr.1_Silent_p.L197L|JPH4_uc001wkr.2_Silent_p.L532L	p.L532L	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2514	-	all_cancers(95;0.000251)		532			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1596C>A	CCDS9603.1																																																																																				PASS	0.677	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		6	148	6	148	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33014470	33014470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:33014470C>G	ENST00000280979.4	+	4	781	c.611C>G	c.(610-612)tCa>tGa	p.S204*	AKAP6_ENST00000557354.1_Nonsense_Mutation_p.S204*|AKAP6_ENST00000557272.1_Nonsense_Mutation_p.S204*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	204					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S204*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGACTCAGGACAATTA	0.408																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Nonsense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(610-612)TCA>TGA		A-kinase anchor protein 6							149.0	142.0	145.0					14																	33014470		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014470C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.611C>G	14.37:g.33014470C>G	ENSP00000280979:p.Ser204*					AKAP6_uc010aml.2_Nonsense_Mutation_p.S201*	p.S204*	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	781	+	Breast(36;0.0388)|Prostate(35;0.15)		204					A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.611C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404559	0.96051	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.9371	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	204	.	ENSP00000280979:S204X	S	+	2	0	AKAP6	32084221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.597000	0.67577	2.894000	0.99253	0.655000	0.94253	TCA		PASS	0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	62	6	62	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64450532	64450532	+	Silent	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:64450532A>G	ENST00000344113.4	+	18	2291	c.2079A>G	c.(2077-2079)gaA>gaG	p.E693E	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.E693E|SYNE2_ENST00000554584.1_Silent_p.E693E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	693					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E693E(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATCTAAAGAAGAGAAAGCAA	0.284																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2077-2079)GAA>GAG		spectrin repeat containing, nuclear envelope 2							36.0	35.0	36.0					14																	64450532		1795	4060	5855	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64450532A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2079A>G	14.37:g.64450532A>G						SYNE2_uc001xgl.2_Silent_p.E693E	p.E693E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	18	2309	+			693			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2079A>G	CCDS41963.1																																																																																				PASS	0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	19	7	19	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72138262	72138262	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:72138262C>T	ENST00000555818.1	+	8	3030	c.2682C>T	c.(2680-2682)agC>agT	p.S894S	SIPA1L1_ENST00000537413.1_Silent_p.S369S|SIPA1L1_ENST00000381232.3_Silent_p.S894S|SIPA1L1_ENST00000358550.2_Silent_p.S894S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	894					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.S894S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAACAAAGAGCGTGGTCTTCA	0.463																																						uc001xms.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)	4						c.(2680-2682)AGC>AGT		signal-induced proliferation-associated 1 like							133.0	127.0	129.0					14																	72138262		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72138262C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2682C>T	14.37:g.72138262C>T						SIPA1L1_uc001xmt.2_Silent_p.S894S|SIPA1L1_uc001xmu.2_Silent_p.S894S|SIPA1L1_uc001xmv.2_Silent_p.S894S|SIPA1L1_uc010ttm.1_Silent_p.S369S	p.S894S	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	3030	+			894					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.2682C>T	CCDS9807.1																																																																																				PASS	0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		25	52	25	52	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102452390	102452390	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:102452390C>A	ENST00000360184.4	+	8	1992	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	610	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Q610K(1)|p.Q610*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGCTGATCCAGCGCGTGAA	0.507																																						uc001yks.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(1828-1830)CAG>AAG		cytoplasmic dynein 1 heavy chain 1							63.0	55.0	58.0					14																	102452390		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452390C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1828C>A	14.37:g.102452390C>A	ENSP00000348965:p.Gln610Lys						p.Q610K	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			8	1992	+			610			Interaction with DYNC1I2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.1828C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483781	0.63962	.	.	ENSG00000197102	ENST00000360184	T	0.54675	0.56	5.85	5.85	0.93711	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.67953	2.075	0.80722	D	1	B	0.24132	0.098	B	0.26310	0.068	T	0.50074	-0.8870	10	0.24483	T	0.36	.	20.155	0.98106	0.0:1.0:0.0:0.0	.	610	Q14204	DYHC1_HUMAN	K	610	ENSP00000348965:Q610K	ENSP00000348965:Q610K	Q	+	1	0	DYNC1H1	101522143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.760000	0.94817	0.655000	0.94253	CAG		PASS	0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	38	4	38	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104251226	104251226	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:104251226C>G	ENST00000202556.9	-	3	465	c.183G>C	c.(181-183)atG>atC	p.M61I		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	61					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M61I(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTTCGTACATCATATGATCAA	0.388																																						uc001yof.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)ATG>ATC		apoptosis-stimulating protein of p53, 1							85.0	81.0	82.0					14																	104251226		1845	4088	5933	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104251226C>G	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.183G>C	14.37:g.104251226C>G	ENSP00000202556:p.Met61Ile					PPP1R13B_uc001yog.1_5'UTR	p.M61I	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			3	466	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	61					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.183G>C	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172547	0.57584	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	T;T;T	0.78003	-1.14;-1.14;-1.14	5.75	5.75	0.90469	.	0.039513	0.85682	D	0.000000	T	0.71434	0.3339	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.67401	-0.5680	10	0.62326	D	0.03	.	15.0708	0.72034	0.0:0.8584:0.1416:0.0	.	61	Q96KQ4	ASPP1_HUMAN	I	61;58;90	ENSP00000202556:M61I;ENSP00000452376:M58I;ENSP00000450734:M90I	ENSP00000202556:M61I	M	-	3	0	PPP1R13B	103320979	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.315000	0.65810	2.720000	0.93068	0.563000	0.77884	ATG		PASS	0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	51	4	51	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28230328	28230328	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:28230328G>C	ENST00000354638.3	-	13	1401	c.1246C>G	c.(1246-1248)Cgg>Ggg	p.R416G	OCA2_ENST00000353809.5_Missense_Mutation_p.R392G|OCA2_ENST00000382996.2_Missense_Mutation_p.R416G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	416					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.R416G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGGGAGAGCCGGTATGCCTGG	0.567									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1246-1248)CGG>GGG		oculocutaneous albinism II							81.0	64.0	70.0					15																	28230328		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230328G>C		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1246C>G	15.37:g.28230328G>C	ENSP00000346659:p.Arg416Gly					OCA2_uc010ayv.2_Missense_Mutation_p.R392G	p.R416G	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1356	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	416			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1246C>G	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009591	0.75046	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.85556	-2.0;-2.0;-2.0	5.03	3.12	0.35913	Divalent ion symporter (1);	0.347413	0.30850	N	0.008744	D	0.84316	0.5445	L	0.49640	1.575	0.24311	N	0.995083	B;B	0.30455	0.28;0.263	B;B	0.40329	0.283;0.326	T	0.76669	-0.2874	10	0.52906	T	0.07	0.0027	13.4265	0.61028	0.0:0.0:0.7138:0.2862	.	392;416	Q04671-2;Q04671	.;P_HUMAN	G	416;392;416	ENSP00000346659:R416G;ENSP00000261276:R392G;ENSP00000372457:R416G	ENSP00000261276:R392G	R	-	1	2	OCA2	25903923	0.995000	0.38212	0.218000	0.23776	0.738000	0.42128	2.287000	0.43505	0.592000	0.29728	0.561000	0.74099	CGG		PASS	0.567	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	16	8	16	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34042220	34042220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:34042220G>A	ENST00000389232.4	+	56	8310	c.8240G>A	c.(8239-8241)tGg>tAg	p.W2747*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.W2747*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2747	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.W2747*(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)		CACAATATCTGGGCCAAGAAG	0.512																																						uc001zhi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8239-8241)TGG>TAG		ryanodine receptor 3							104.0	110.0	108.0					15																	34042220		1997	4199	6196	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34042220G>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.8240G>A	15.37:g.34042220G>A	ENSP00000373884:p.Trp2747*					RYR3_uc010bar.2_Nonsense_Mutation_p.W2747*	p.W2747*	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)	56	8310	+		all_lung(180;7.18e-09)	2747			4.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8240G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	50	17.252059	0.99882	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4788	0.95000	0.0:0.0:1.0:0.0	.	.	.	.	X	2747	.	ENSP00000354735:W2747X	W	+	2	0	RYR3	31829512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.676000	0.91093	0.655000	0.94253	TGG		PASS	0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	14	9	14	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44912449	44912449	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:44912449T>G	ENST00000261866.7	-	15	2789	c.2773A>C	c.(2773-2775)Att>Ctt	p.I925L	SPG11_ENST00000558319.1_Missense_Mutation_p.I925L|SPG11_ENST00000535302.2_Missense_Mutation_p.I925L|SPG11_ENST00000427534.2_Missense_Mutation_p.I925L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	925					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.I925L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCTGGTTAATAACATCAACA	0.358																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2773-2775)ATT>CTT		spatacsin isoform 1							138.0	127.0	130.0					15																	44912449		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44912449T>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2773A>C	15.37:g.44912449T>G	ENSP00000261866:p.Ile925Leu					SPG11_uc010ueh.1_Missense_Mutation_p.I925L|SPG11_uc010uei.1_Missense_Mutation_p.I925L|SPG11_uc001ztz.1_Missense_Mutation_p.I84L	p.I925L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	15	2804	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	925			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.2773A>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792084	0.50102	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78816	-1.21;-0.96;-0.88	5.97	4.86	0.63082	.	0.134992	0.53938	D	0.000051	T	0.64494	0.2603	L	0.38175	1.15	0.80722	D	1	B;B;P;B	0.36990	0.005;0.023;0.577;0.005	B;B;B;B	0.34301	0.007;0.027;0.179;0.007	T	0.59894	-0.7368	10	0.27785	T	0.31	.	7.9629	0.30081	0.0:0.1675:0.0:0.8325	.	925;925;925;925	C4B7M2;F5H3N6;Q96JI7-2;Q96JI7	.;.;.;SPTCS_HUMAN	L	925	ENSP00000261866:I925L;ENSP00000445278:I925L;ENSP00000396110:I925L	ENSP00000261866:I925L	I	-	1	0	SPG11	42699741	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.871000	0.39539	1.104000	0.41587	0.533000	0.62120	ATT		PASS	0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			3	62	3	62	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49148318	49148318	+	Missense_Mutation	SNP	C	C	A	rs374631372		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:49148318C>A	ENST00000332408.4	-	8	1502	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SHC4_ENST00000537958.1_Missense_Mutation_p.E72D|SHC4_ENST00000396535.3_Missense_Mutation_p.E115D	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	358	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.E358D(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TATGCACCTCCTCACTGTGAA	0.438																																						uc001zxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1072-1074)GAG>GAT		rai-like protein							112.0	107.0	109.0					15																	49148318		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49148318C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1074G>T	15.37:g.49148318C>A	ENSP00000329668:p.Glu358Asp					SHC4_uc010uey.1_Missense_Mutation_p.E115D|SHC4_uc010uez.1_Missense_Mutation_p.E72D	p.E358D	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	8	1503	-		all_lung(180;0.00466)	358			PID.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1074G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058934	0.36277	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.32023	3.46;1.47;1.48	5.14	4.22	0.49857	.	0.423783	0.19725	N	0.107490	T	0.27419	0.0673	N	0.14661	0.345	0.38845	D	0.956142	P;D	0.53151	0.605;0.958	B;P	0.55222	0.425;0.771	T	0.11518	-1.0584	10	0.56958	D	0.05	-13.7592	6.7094	0.23268	0.0:0.7372:0.0:0.2628	.	115;358	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	D	358;115;72	ENSP00000329668:E358D;ENSP00000379786:E115D;ENSP00000443300:E72D	ENSP00000329668:E358D	E	-	3	2	SHC4	46935610	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	1.406000	0.34646	1.391000	0.46566	0.655000	0.94253	GAG		PASS	0.438	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		5	78	5	78	---	---	---	---
MNS1	55329	broad.mit.edu	37	15	56739137	56739137	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:56739137C>G	ENST00000260453.3	-	4	522	c.358G>C	c.(358-360)Gag>Cag	p.E120Q		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	120	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.E120Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCTCTAAGCTCAATGCTGTTT	0.303																																						uc002adr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)GAG>CAG		meiosis-specific nuclear structural 1							69.0	66.0	67.0					15																	56739137		2190	4291	6481	SO:0001583	missense	55329				meiosis			g.chr15:56739137C>G	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.358G>C	15.37:g.56739137C>G	ENSP00000260453:p.Glu120Gln					MNS1_uc010bfo.2_5'UTR	p.E120Q	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	4	523	-			120			Potential.|Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.358G>C	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992943	0.93167	.	.	ENSG00000138587	ENST00000260453	T	0.19669	2.13	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.85945	2.785	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.58081	-0.7699	10	0.66056	D	0.02	-18.8212	18.2979	0.90153	0.0:1.0:0.0:0.0	.	120	Q8NEH6	MNS1_HUMAN	Q	120	ENSP00000260453:E120Q	ENSP00000260453:E120Q	E	-	1	0	MNS1	54526429	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.056000	0.76662	2.645000	0.89757	0.557000	0.71058	GAG		PASS	0.303	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		5	18	5	18	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65684253	65684253	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:65684253A>C	ENST00000352385.2	-	12	2398	c.2189T>G	c.(2188-2190)gTg>gGg	p.V730G		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	730	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V730G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCCCTTCCACACTGCTGCATA	0.622																																						uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2188-2190)GTG>GGG		immunoglobulin superfamily, DCC subclass, member							126.0	123.0	124.0					15																	65684253		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684253A>C		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2189T>G	15.37:g.65684253A>C	ENSP00000319623:p.Val730Gly					IGDCC4_uc002aot.1_Missense_Mutation_p.V318G	p.V730G	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			12	2399	-			730			Extracellular (Potential).|Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2189T>G	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624678	0.66901	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.61040	0.14	5.35	5.35	0.76521	Fibronectin, type III (2);	0.229260	0.36002	N	0.002847	T	0.51483	0.1677	M	0.65498	2.005	0.80722	D	1	P	0.42203	0.773	B	0.34093	0.175	T	0.53830	-0.8383	10	0.26408	T	0.33	-15.4649	13.9004	0.63799	1.0:0.0:0.0:0.0	.	730	Q8TDY8	IGDC4_HUMAN	G	730;459	ENSP00000319623:V730G	ENSP00000319623:V730G	V	-	2	0	IGDCC4	63471306	1.000000	0.71417	0.983000	0.44433	0.771000	0.43674	6.972000	0.76110	2.031000	0.59945	0.533000	0.62120	GTG		PASS	0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		43	78	43	78	---	---	---	---
DIS3L	115752	broad.mit.edu	37	15	66621462	66621462	+	Splice_Site	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:66621462G>A	ENST00000319212.4	+	13	2406	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S	DIS3L_ENST00000319194.5_Splice_Site_p.G703S|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	786					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.G703S(1)|p.G786S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCATCATTACGGTGAATCATA	0.433																																						uc010ujm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2356-2358)GGT>AGT		DIS3 mitotic control homolog (S.							68.0	67.0	67.0					15																	66621462		2201	4299	6500	SO:0001630	splice_region_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66621462G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2356+1G>A	15.37:g.66621462G>A						DIS3L_uc002app.2_Missense_Mutation_p.G703S|DIS3L_uc010bho.2_Missense_Mutation_p.G652S	p.G786S	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			13	2371	+			786					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.2356G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344834	0.82022	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.52983	0.64;0.64	5.76	5.76	0.90799	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.144733	0.64402	D	0.000006	T	0.78194	0.4245	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83503	0.0076	10	0.87932	D	0	.	18.9612	0.92678	0.0:0.0:1.0:0.0	.	786	Q8TF46	DI3L1_HUMAN	S	703;786	ENSP00000321583:G703S;ENSP00000321711:G786S	ENSP00000321583:G703S	G	+	1	0	DIS3L	64408516	1.000000	0.71417	0.969000	0.41365	0.091000	0.18340	9.497000	0.97970	2.715000	0.92844	0.563000	0.77884	GGT		PASS	0.433	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	Missense_Mutation	15	25	15	25	---	---	---	---
SH2D7	646892	broad.mit.edu	37	15	78385066	78385066	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:78385066C>A	ENST00000328828.5	+	1	140	c.140C>A	c.(139-141)gCc>gAc	p.A47D	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_Intron	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	47								p.A47D(1)		endometrium(2)|kidney(2)|lung(3)	7						CAGAACGGTGCCCTGCCTCCC	0.607																																						uc010blb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GCC>GAC		SH2 domain containing 7							43.0	47.0	46.0					15																	78385066		1994	4145	6139	SO:0001583	missense	646892							g.chr15:78385066C>A		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.140C>A	15.37:g.78385066C>A	ENSP00000327846:p.Ala47Asp						p.A47D	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN			1	140	+			47						Missense_Mutation	SNP	ENST00000328828.5	37	c.140C>A	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221303	0.22457	.	.	ENSG00000183476	ENST00000328828	T	0.28895	1.59	5.49	-1.5	0.08691	.	.	.	.	.	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	P	0.43662	0.814	B	0.40782	0.34	T	0.16424	-1.0403	9	0.24483	T	0.36	.	4.7204	0.12915	0.1441:0.3983:0.0:0.4577	.	47	A6NKC9	SH2D7_HUMAN	D	47	ENSP00000327846:A47D	ENSP00000327846:A47D	A	+	2	0	SH2D7	76172121	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.712000	0.05013	-0.572000	0.06006	0.655000	0.94253	GCC		PASS	0.607	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		5	10	5	10	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049631	2049631	+	Missense_Mutation	SNP	G	G	A	rs144186452	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:2049631G>A	ENST00000563630.1	-	9	1996	c.1754C>T	c.(1753-1755)cCg>cTg	p.P585L	ZNF598_ENST00000562103.1_Missense_Mutation_p.P585L|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.P640L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	640							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P640L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AGCAGGGGCCGGGCCCTCCAT	0.711													G|||	9	0.00179712	0.0008	0.0014	5008	,	,		14175	0.0		0.004	False		,,,				2504	0.0031					uc002cof.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1918-1920)CCG>CTG		zinc finger protein 598		G	LEU/PRO	2,3612		0,2,1805	14.0	18.0	17.0		1921	0.5	0.0	16	dbSNP_134	17	46,7934		0,46,3944	yes	missense	ZNF598	NM_178167.2	98	0,48,5749	AA,AG,GG		0.5764,0.0553,0.414	benign	640/905	2049631	48,11546	1807	3990	5797	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049631G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1754C>T	16.37:g.2049631G>A	ENSP00000455882:p.Pro585Leu					ZNF598_uc002coe.1_Missense_Mutation_p.P4L	p.P640L	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1934	-			640			Pro-rich.		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1919C>T		4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	.	4.936	0.173888	0.09391	5.53E-4	0.005764	ENSG00000167962	ENST00000431526	T	0.17054	2.3	4.67	0.541	0.17168	.	0.795844	0.11646	N	0.543311	T	0.10208	0.0250	L	0.60455	1.87	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.08055	0.003;0.003	T	0.30504	-0.9976	10	0.29301	T	0.29	-0.0653	4.2827	0.10839	0.3239:0.0:0.5283:0.1478	.	640;632	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	L	640	ENSP00000411409:P640L	ENSP00000411409:P640L	P	-	2	0	ZNF598	1989632	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.271000	0.18626	-0.010000	0.14271	-0.145000	0.13849	CCG		PASS	0.711	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	8	6	8	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2812505	2812505	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:2812505G>T	ENST00000301740.8	+	11	2525	c.1976G>T	c.(1975-1977)cGc>cTc	p.R659L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	659	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R659L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCCGCTCACGCTCCAGAACC	0.622																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1975-1977)CGC>CTC		splicing coactivator subunit SRm300							95.0	96.0	96.0					16																	2812505		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812505G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1976G>T	16.37:g.2812505G>T	ENSP00000301740:p.Arg659Leu					SRRM2_uc002crj.1_Missense_Mutation_p.R563L|SRRM2_uc002crl.1_Missense_Mutation_p.R659L|SRRM2_uc010bsu.1_Missense_Mutation_p.R563L	p.R659L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2525	+			659			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1976G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829906	0.16749	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.27104	1.69	5.54	4.57	0.56435	.	0.215054	0.29551	N	0.011830	T	0.20210	0.0486	L	0.27053	0.805	0.40509	D	0.980725	B	0.32160	0.358	B	0.32342	0.144	T	0.05500	-1.0881	10	0.51188	T	0.08	0.1299	14.1427	0.65329	0.0:0.1514:0.8486:0.0	.	659	Q9UQ35	SRRM2_HUMAN	L	659;659;624	ENSP00000301740:R659L	ENSP00000301740:R659L	R	+	2	0	SRRM2	2752506	0.874000	0.30092	0.553000	0.28255	0.485000	0.33311	3.566000	0.53805	1.320000	0.45209	0.563000	0.77884	CGC		PASS	0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			24	62	24	62	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813279	2813279	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:2813279C>T	ENST00000301740.8	+	11	3299	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	917	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P917L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCCACAACCCAAAGTGAAG	0.512																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2749-2751)CCC>CTC		splicing coactivator subunit SRm300							81.0	74.0	76.0					16																	2813279		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813279C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2750C>T	16.37:g.2813279C>T	ENSP00000301740:p.Pro917Leu					SRRM2_uc002crj.1_Missense_Mutation_p.P821L|SRRM2_uc002crl.1_Missense_Mutation_p.P917L|SRRM2_uc010bsu.1_Missense_Mutation_p.P821L	p.P917L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3299	+			917			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2750C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554162	0.27739	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.32988	1.43	5.66	5.66	0.87406	.	0.090566	0.49305	D	0.000150	T	0.31040	0.0784	L	0.50333	1.59	0.41841	D	0.990128	P	0.47762	0.9	B	0.42282	0.382	T	0.07121	-1.0789	10	0.54805	T	0.06	-9.9083	12.9085	0.58166	0.0:0.8368:0.1632:0.0	.	917	Q9UQ35	SRRM2_HUMAN	L	917;917;169;882	ENSP00000301740:P917L	ENSP00000301740:P917L	P	+	2	0	SRRM2	2753280	0.004000	0.15560	0.970000	0.41538	0.955000	0.61496	0.913000	0.28611	2.676000	0.91093	0.650000	0.86243	CCC		PASS	0.512	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			21	44	21	44	---	---	---	---
CLDN6	9074	broad.mit.edu	37	16	3066004	3066004	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:3066004G>T	ENST00000396925.1	-	3	447	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	CLDN6_ENST00000328796.4_Missense_Mutation_p.Q7K|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Missense_Mutation_p.Q7K			P56747	CLD6_HUMAN	claudin 6	7					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Q7K(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCAGGATCTGCATTCCGGCA	0.602																																						uc002csu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)CAG>AAG		claudin 6							60.0	57.0	58.0					16																	3066004		2198	4300	6498	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3066004G>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.19C>A	16.37:g.3066004G>T	ENSP00000380131:p.Gln7Lys						p.Q7K	NM_021195	NP_067018	P56747	CLD6_HUMAN			2	79	-			7			Cytoplasmic (Potential).		B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.19C>A	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234551	0.39498	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89617	-2.54;-2.54	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.97077	3.935	0.50632	D	0.999881	D	0.67145	0.996	D	0.66351	0.943	D	0.96972	0.9709	10	0.62326	D	0.03	.	15.001	0.71473	0.0:0.0:1.0:0.0	.	7	P56747	CLD6_HUMAN	K	7	ENSP00000380131:Q7K;ENSP00000328674:Q7K	ENSP00000328674:Q7K	Q	-	1	0	CLDN6	3006005	0.998000	0.40836	0.998000	0.56505	0.512000	0.34134	2.565000	0.45939	2.470000	0.83445	0.655000	0.94253	CAG		PASS	0.602	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		7	17	7	17	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000571589.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507																																						uc010uza.1																			3	Substitution - coding silent(3)		large_intestine(2)|lung(1)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1741-1743)ATC>ATT		megakaryoblastic leukemia 2 protein		C		0,4394		0,0,2197	37.0	39.0	38.0		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340860C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1710C>T	16.37:g.14340860C>T						MKL2_uc002dcg.2_Silent_p.I581I|MKL2_uc002dcj.2_5'Flank	p.I581I	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			12	1898	+			570			Required for interaction with itself and with MKL1.|Potential.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1743C>T																																																																																					PASS	0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		5	49	5	49	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23712343	23712343	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:23712343G>T	ENST00000256797.4	-	12	1608	c.1440C>A	c.(1438-1440)gaC>gaA	p.D480E	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2									p.D480E(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCAGCAGGTCTTGGGGTC	0.572																																						uc002dma.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(1438-1440)GAC>GAA		endoplasmic reticulum to nucleus signalling 2							85.0	83.0	83.0					16																	23712343		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23712343G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1440C>A	16.37:g.23712343G>T	ENSP00000256797:p.Asp480Glu					ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.D288E	p.D480E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	12	1609	-			432			Helical; (Potential).			Missense_Mutation	SNP	ENST00000256797.4	37	c.1440C>A	CCDS32407.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973799	0.53720	.	.	ENSG00000134398	ENST00000256797	T	0.61627	0.09	5.25	4.29	0.51040	.	0.156409	0.56097	D	0.000034	T	0.40398	0.1115	L	0.32530	0.975	0.35473	D	0.797472	B;B	0.24426	0.103;0.067	B;B	0.22152	0.038;0.012	T	0.38672	-0.9650	10	0.07325	T	0.83	.	9.9998	0.41922	0.0945:0.0:0.9055:0.0	.	432;432	Q76MJ5;A5YM65	ERN2_HUMAN;.	E	480	ENSP00000256797:D480E	ENSP00000256797:D480E	D	-	3	2	ERN2	23619844	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.891000	0.48617	1.335000	0.45486	0.561000	0.74099	GAC		PASS	0.572	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1			24	37	24	37	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24196462	24196462	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:24196462G>T	ENST00000321728.7	+	14	1739	c.1564G>T	c.(1564-1566)Gtg>Ttg	p.V522L	PRKCB_ENST00000303531.7_Missense_Mutation_p.V522L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	522	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.V522L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGGAAGTCCGTGGATTGGTG	0.458																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1564-1566)GTG>TTG		protein kinase C, beta isoform 1	Vitamin E(DB00163)						188.0	176.0	180.0					16																	24196462		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196462G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1564G>T	16.37:g.24196462G>T	ENSP00000318315:p.Val522Leu					PRKCB_uc002dme.2_Missense_Mutation_p.V522L	p.V522L	NM_212535	NP_997700	P05771	KPCB_HUMAN			14	1761	+			522			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1564G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877758	0.91664	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.26957	1.7;1.7	5.05	4.08	0.47627	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.982;0.992	T	0.61792	-0.6990	10	0.87932	D	0	.	14.1711	0.65510	0.0:0.0:0.8491:0.1509	.	522;522	P05771-2;P05771	.;KPCB_HUMAN	L	522	ENSP00000318315:V522L;ENSP00000305355:V522L	ENSP00000305355:V522L	V	+	1	0	PRKCB	24103963	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.869000	0.99810	1.227000	0.43598	0.650000	0.86243	GTG		PASS	0.458	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		28	34	28	34	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48234333	48234333	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:48234333G>A	ENST00000394747.1	-	14	2285	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	ABCC11_ENST00000537808.1_Missense_Mutation_p.R646C|ABCC11_ENST00000394748.1_Missense_Mutation_p.R646C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R646C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R646C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	646	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R646C(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TAGACGGCGCGGGCCAGGCTG	0.582																																						uc002eff.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1936-1938)CGC>TGC		ATP-binding cassette, sub-family C, member 11							71.0	58.0	63.0					16																	48234333		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48234333G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1936C>T	16.37:g.48234333G>A	ENSP00000378230:p.Arg646Cys					ABCC11_uc002efg.1_Missense_Mutation_p.R646C|ABCC11_uc002efh.1_Missense_Mutation_p.R646C|ABCC11_uc010vgk.1_RNA	p.R646C	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			14	2286	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	646			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1936C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664767	0.47572	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.7	2.45	0.29901	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.96333	3.805	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98792	1.0736	10	0.87932	D	0	-18.7739	13.1786	0.59641	0.0:0.0:0.5881:0.4119	.	646;646	Q96J66-2;Q96J66	.;ABCCB_HUMAN	C	646	ENSP00000311326:R646C;ENSP00000349017:R646C;ENSP00000378231:R646C;ENSP00000378230:R646C;ENSP00000438530:R646C	ENSP00000311326:R646C	R	-	1	0	ABCC11	46791834	0.994000	0.37717	0.065000	0.19835	0.248000	0.25809	2.077000	0.41557	0.714000	0.32081	0.655000	0.94253	CGC		PASS	0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		20	24	20	24	---	---	---	---
CES5A	221223	broad.mit.edu	37	16	55883659	55883659	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:55883659C>T	ENST00000290567.9	-	11	1421	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.E404K|CES5A_ENST00000521992.1_Missense_Mutation_p.E463K|CES5A_ENST00000518005.1_Missense_Mutation_p.E328K	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	434						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.E463K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCCGAAACTCATAGAAGTAG	0.567																																						uc002eip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)GAG>AAG		carboxylesterase 7 isoform 1							81.0	71.0	74.0					16																	55883659		1568	3582	5150	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55883659C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1300G>A	16.37:g.55883659C>T	ENSP00000290567:p.Glu434Lys					CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.E195K|CES7_uc002eir.2_Missense_Mutation_p.E328K	p.E434K	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	11	1449	-			434					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.1300G>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.076806	0.76415	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.03	5.03	0.67393	Carboxylesterase, type B (1);	0.301676	0.24033	N	0.042168	T	0.30198	0.0757	M	0.75777	2.31	0.44579	D	0.997548	D	0.89917	1.0	D	0.91635	0.999	T	0.00878	-1.1530	10	0.66056	D	0.02	.	16.6465	0.85178	0.0:1.0:0.0:0.0	.	434	Q6NT32	EST5A_HUMAN	K	463;328;434;404;214	ENSP00000428864:E463K;ENSP00000428571:E328K;ENSP00000290567:E434K;ENSP00000428887:E404K	ENSP00000290567:E434K	E	-	1	0	CES5A	54441160	1.000000	0.71417	0.991000	0.47740	0.458000	0.32498	6.064000	0.71169	2.718000	0.92993	0.462000	0.41574	GAG		PASS	0.567	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		6	112	6	112	---	---	---	---
GAN	8139	broad.mit.edu	37	16	81397433	81397433	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:81397433G>T	ENST00000568107.2	+	7	1283	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	374					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G374V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGATAGATGGGATGCTGTAC	0.398																																					GBM(106;1239 1507 7582 9741 33976)	uc002fgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1120-1122)GGG>GTG		gigaxonin							208.0	186.0	193.0					16																	81397433		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81397433G>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1121G>T	16.37:g.81397433G>T	ENSP00000476795:p.Gly374Val						p.G374V	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			7	1269	+		Colorectal(91;0.153)	374			Kelch 2.			Missense_Mutation	SNP	ENST00000568107.2	37	c.1121G>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146516	0.77888	.	.	ENSG00000127688	ENST00000248272	D	0.82619	-1.63	5.07	4.1	0.47936	Galactose oxidase, beta-propeller (1);	0.048974	0.85682	D	0.000000	D	0.93841	0.8030	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95722	0.8767	10	0.87932	D	0	.	14.802	0.69924	0.0:0.0:0.8548:0.1452	.	374	Q9H2C0	GAN_HUMAN	V	374	ENSP00000248272:G374V	ENSP00000248272:G374V	G	+	2	0	GAN	79954934	1.000000	0.71417	0.138000	0.22173	0.994000	0.84299	7.370000	0.79589	1.318000	0.45170	0.563000	0.77884	GGG		PASS	0.398	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			6	91	6	91	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87678227	87678227	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:87678227G>A	ENST00000284262.2	+	2	988	c.746G>A	c.(745-747)gGc>gAc	p.G249D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	249					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G249D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCGAGGCGGGCATGAGCACC	0.672																																						uc002fkd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(745-747)GGC>GAC		junctophilin 3							70.0	65.0	66.0					16																	87678227		2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678227G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.746G>A	16.37:g.87678227G>A	ENSP00000284262:p.Gly249Asp					JPH3_uc010vou.1_RNA	p.G249D	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1000	+			249			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.746G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044504	0.75732	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.48201	0.82	5.15	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	L	0.50333	1.59	0.80722	D	1	D	0.58970	0.984	P	0.59221	0.854	T	0.62891	-0.6758	10	0.87932	D	0	.	14.5236	0.67870	0.0:0.1476:0.8524:0.0	.	249	Q8WXH2	JPH3_HUMAN	D	112;249	ENSP00000284262:G249D	ENSP00000284262:G249D	G	+	2	0	JPH3	86235728	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	5.394000	0.66285	1.130000	0.42092	0.561000	0.74099	GGC		PASS	0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	71	4	71	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89936621	89936621	+	Missense_Mutation	SNP	C	C	T	rs144349271		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr16:89936621C>T	ENST00000378247.3	+	15	2129	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648C	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	696					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R696C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TACGCCACGACGCAGTCGCCA	0.607																																						uc002foz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2086-2088)CGC>TGC		spire homolog 2			CYS/ARG	0,4390		0,0,2195	106.0	66.0	80.0		2086	1.7	0.0	16	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPIRE2	NM_032451.1	180	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	696/715	89936621	1,12989	2195	4300	6495	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89936621C>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.2086C>T	16.37:g.89936621C>T	ENSP00000367494:p.Arg696Cys					SPIRE2_uc010ciw.1_Missense_Mutation_p.R648C|SPIRE2_uc002fpa.1_Missense_Mutation_p.R648C|SPIRE2_uc010cix.1_Missense_Mutation_p.R563C	p.R696C	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	15	2138	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	696					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.2086C>T	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	c	14.89	2.670231	0.47677	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.52983	0.76;0.64	4.98	1.67	0.24075	Zinc finger, FYVE/PHD-type (1);	0.253542	0.36234	N	0.002703	T	0.41534	0.1163	M	0.68317	2.08	0.21184	N	0.999764	B;B;B;B	0.25007	0.066;0.116;0.116;0.116	B;B;B;B	0.16722	0.011;0.016;0.016;0.016	T	0.43294	-0.9400	10	0.66056	D	0.02	-26.7823	8.2261	0.31570	0.2743:0.6468:0.0:0.0789	.	563;648;648;696	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	C	696;648	ENSP00000367494:R696C;ENSP00000376782:R648C	ENSP00000367494:R696C	R	+	1	0	SPIRE2	88464122	0.271000	0.24162	0.006000	0.13384	0.432000	0.31715	2.422000	0.44696	0.764000	0.33197	0.543000	0.68304	CGC		PASS	0.607	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		8	2	8	2	---	---	---	---
VPS53	55275	broad.mit.edu	37	17	534816	534816	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:534816C>T	ENST00000571805.1	-	8	797	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	VPS53_ENST00000291074.5_Missense_Mutation_p.E192K|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.E221K|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.E23K|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	221					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.E221K(1)|p.E192K(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGAAACGCTTCTTCAAAATCT	0.498																																						uc002frn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(661-663)GAA>AAA		vacuolar protein sorting 53 isoform 2							151.0	115.0	127.0					17																	534816		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:534816C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.661G>A	17.37:g.534816C>T	ENSP00000459312:p.Glu221Lys					VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.E221K|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E192K|VPS53_uc002fro.2_Missense_Mutation_p.E23K|VPS53_uc010cjp.1_Intron	p.E221K	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	8	808	-			221					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.661G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.495515	0.96355	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.82	5.82	0.92795	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.62016	1.91	0.80722	D	1	P;P;B;P	0.37276	0.589;0.589;0.444;0.589	B;B;B;B	0.44224	0.259;0.316;0.444;0.316	T	0.27123	-1.0083	10	0.56958	D	0.05	-27.5605	19.0968	0.93255	0.0:1.0:0.0:0.0	.	221;23;221;192	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	K	221;23;192;221	ENSP00000401435:E221K;ENSP00000394386:E23K;ENSP00000291074:E192K;ENSP00000373692:E221K	ENSP00000291074:E192K	E	-	1	0	VPS53	481566	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.270000	0.78493	2.756000	0.94617	0.563000	0.77884	GAA		PASS	0.498	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		7	44	7	44	---	---	---	---
CTNS	1497	broad.mit.edu	37	17	3563244	3563244	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:3563244G>A	ENST00000046640.3	+	11	1538	c.945G>A	c.(943-945)caG>caA	p.Q315Q	CTNS_ENST00000381870.3_Silent_p.Q315Q|CTNS_ENST00000414524.2_Silent_p.Q168Q|CTNS_ENST00000441220.2_Silent_p.Q207Q|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	315	PQ-loop 2.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.Q315Q(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GCCTCCTGCAGATGTTCCTCC	0.627																																						uc002fwb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(943-945)CAG>CAA		cystinosin isoform 2	L-Cystine(DB00138)						54.0	53.0	53.0					17																	3563244		2203	4300	6503	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3563244G>A	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.945G>A	17.37:g.3563244G>A						CTNS_uc002fwa.2_Silent_p.Q315Q|CTNS_uc010ckj.2_Silent_p.Q315Q|CTNS_uc010vrv.1_Silent_p.Q168Q|CTNS_uc010vrw.1_Silent_p.Q207Q	p.Q315Q	NM_004937	NP_004928	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	11	1538	+			315			Helical; (Potential).|PQ-loop 2.		D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.945G>A	CCDS11031.1																																																																																				PASS	0.627	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		6	9	6	9	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	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.chr17:7577120C>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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L	p.R273L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	7	7	7	---	---	---	---
CCL3	6348	broad.mit.edu	37	17	34416024	34416024	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:34416024A>T	ENST00000225245.5	-	3	355	c.273T>A	c.(271-273)agT>agA	p.S91R	AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	91					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)	p.S91R(1)		breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCCTCAGGCACTCAGCTCCA	0.627																																						uc002hkv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)AGT>AGA		chemokine (C-C motif) ligand 3							115.0	111.0	112.0					17																	34416024		2203	4300	6503	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416024A>T	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.273T>A	17.37:g.34416024A>T	ENSP00000225245:p.Ser91Arg						p.S91R	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	375	-		Ovarian(249;0.17)	91						Missense_Mutation	SNP	ENST00000225245.5	37	c.273T>A	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.313610	0.40996	.	.	ENSG00000006075	ENST00000225245	T	0.02916	4.11	4.77	-3.72	0.04411	.	0.998645	0.08105	N	0.997141	T	0.02193	0.0068	.	.	.	0.09310	N	1	B	0.29955	0.263	B	0.29598	0.104	T	0.45804	-0.9236	9	0.62326	D	0.03	.	3.3306	0.07083	0.3173:0.0:0.2595:0.4232	.	91	P10147	CCL3_HUMAN	R	91	ENSP00000225245:S91R	ENSP00000225245:S91R	S	-	3	2	CCL3	31440137	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.928000	0.03980	-0.481000	0.06792	0.528000	0.53228	AGT		PASS	0.627	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		21	23	21	23	---	---	---	---
SLC25A39	51629	broad.mit.edu	37	17	42398095	42398095	+	Silent	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:42398095C>G	ENST00000377095.5	-	9	815	c.696G>C	c.(694-696)ctG>ctC	p.L232L	SLC25A39_ENST00000537904.2_Silent_p.L209L|SLC25A39_ENST00000590194.1_Silent_p.L224L|SLC25A39_ENST00000225308.8_Silent_p.L224L|SLC25A39_ENST00000586016.1_Silent_p.L100L	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	232					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.L224L(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAACCAGTACAGGGCTTGGG	0.582																																						uc002ign.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(694-696)CTG>CTC		solute carrier family 25, member 39 isoform a							76.0	84.0	82.0					17																	42398095		2203	4300	6503	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398095C>G	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.696G>C	17.37:g.42398095C>G						SLC25A39_uc002igm.2_Silent_p.L224L|SLC25A39_uc002igo.2_Silent_p.L224L|SLC25A39_uc010wiw.1_Silent_p.L209L|SLC25A39_uc010czu.2_Silent_p.L100L|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	p.L232L	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	9	850	-		Prostate(33;0.0233)	232			Helical; Name=4; (Potential).|Solcar 2.		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.696G>C	CCDS45700.1																																																																																				PASS	0.582	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		35	13	35	13	---	---	---	---
GRN	2896	broad.mit.edu	37	17	42429158	42429158	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:42429158C>A	ENST00000053867.3	+	10	1236	c.1174C>A	c.(1174-1176)Cca>Aca	p.P392T	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Missense_Mutation_p.P235T	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	392					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.P392T(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGTCCAATCCCAGAGGTATA	0.582																																						uc002igp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1174-1176)CCA>ACA		granulin precursor							44.0	47.0	46.0					17																	42429158		2197	4293	6490	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429158C>A	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1174C>A	17.37:g.42429158C>A	ENSP00000053867:p.Pro392Thr					GRN_uc002igr.1_Missense_Mutation_p.P186T	p.P392T	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	10	1393	+		Prostate(33;0.0181)	392					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1174C>A	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333757	0.41297	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.72394	-0.65	5.14	4.18	0.49190	Granulin (2);	0.196706	0.35378	N	0.003245	T	0.78717	0.4327	M	0.75150	2.29	0.51482	D	0.99992	D;D	0.65815	0.995;0.991	P;D	0.65987	0.842;0.94	T	0.75825	-0.3181	10	0.27785	T	0.31	-2.5307	7.1921	0.25831	0.0:0.7355:0.1724:0.0921	.	329;392	B4DJI2;P28799	.;GRN_HUMAN	T	392;212	ENSP00000053867:P392T	ENSP00000053867:P392T	P	+	1	0	GRN	39784684	0.001000	0.12720	0.991000	0.47740	0.034000	0.12701	1.221000	0.32503	1.182000	0.42928	0.549000	0.68633	CCA		PASS	0.582	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		4	22	4	22	---	---	---	---
TBX21	30009	broad.mit.edu	37	17	45822322	45822322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:45822322C>T	ENST00000177694.1	+	6	1409	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	400					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R400*(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCTGAGTTTCGAGCAGTCAG	0.652																																						uc002ilv.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1198-1200)CGA>TGA		T-box 21							52.0	52.0	52.0					17																	45822322		2203	4300	6503	SO:0001587	stop_gained	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822322C>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1198C>T	17.37:g.45822322C>T	ENSP00000177694:p.Arg400*						p.R400*	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1409	+			400						Nonsense_Mutation	SNP	ENST00000177694.1	37	c.1198C>T	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658072	0.88154	.	.	ENSG00000073861	ENST00000177694	.	.	.	5.2	5.2	0.72013	.	0.508313	0.18543	N	0.138132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	14.2598	0.66078	0.0:1.0:0.0:0.0	.	.	.	.	X	400	.	ENSP00000177694:R400X	R	+	1	2	TBX21	43177321	0.500000	0.26091	0.481000	0.27354	0.367000	0.29736	1.765000	0.38481	2.404000	0.81709	0.655000	0.94253	CGA		PASS	0.652	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		10	24	10	24	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56083716	56083716	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:56083716C>G	ENST00000258962.4	-	2	575	c.367G>C	c.(367-369)Gtg>Ctg	p.V123L	SRSF1_ENST00000584773.1_Missense_Mutation_p.V123L|SRSF1_ENST00000582730.2_Missense_Mutation_p.V123L|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	123	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V123L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGACAACCACTCTGTTTTCA	0.552																																						uc002ivi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GTG>CTG		splicing factor, arginine/serine-rich 1 isoform							44.0	53.0	50.0					17																	56083716		2134	4185	6319	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083716C>G		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.367G>C	17.37:g.56083716C>G	ENSP00000258962:p.Val123Leu					SFRS1_uc002ivj.2_Missense_Mutation_p.V123L	p.V123L	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	2	576	-		Colorectal(1115;0.0691)	123			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.367G>C	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138298	0.56936	.	.	ENSG00000136450	ENST00000258962	T	0.12255	2.7	6.06	6.06	0.98353	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.60845	1.875	0.80722	D	1	B;B	0.31893	0.345;0.028	B;B	0.33392	0.163;0.065	T	0.01729	-1.1286	10	0.27082	T	0.32	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	155;123	Q59FA2;Q07955	.;SRSF1_HUMAN	L	123	ENSP00000258962:V123L	ENSP00000258962:V123L	V	-	1	0	SRSF1	53438715	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.354000	0.79424	2.871000	0.98454	0.655000	0.94253	GTG		PASS	0.552	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		38	12	38	12	---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73945424	73945424	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:73945424C>A	ENST00000301608.4	-	12	1662	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	ACOX1_ENST00000537812.1_Silent_p.V496V|ACOX1_ENST00000293217.5_Silent_p.V534V	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	534				VV -> GL (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.V534V(4)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GCTTAACTACCACATAGTGGC	0.358																																						uc002jqf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1600-1602)GTG>GTT		acyl-Coenzyme A oxidase 1 isoform b							96.0	100.0	99.0					17																	73945424		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73945424C>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1602G>T	17.37:g.73945424C>A						ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V	p.V534V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			12	1892	-			534	VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595).				A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.1602G>T	CCDS11735.1																																																																																				PASS	0.358	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			5	110	5	110	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78319717	78319717	+	Missense_Mutation	SNP	C	C	T	rs367919620		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:78319717C>T	ENST00000582970.1	+	29	7725	c.7582C>T	c.(7582-7584)Cgg>Tgg	p.R2528W	RNF213_ENST00000336301.6_Missense_Mutation_p.R601W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2577W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2528					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R2577W(1)|p.R601W(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAATCCATACCGGAAGCACTC	0.527																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1801-1803)CGG>TGG		ring finger protein 213		C	TRP/ARG	0,4406		0,0,2203	91.0	87.0	89.0		7729	3.1	1.0	17		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF213	NM_020914.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2577/5257	78319717	1,13005	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319717C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7582C>T	17.37:g.78319717C>T	ENSP00000464087:p.Arg2528Trp						p.R601W	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	2024	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1801C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	5.268	0.234835	0.09969	0.0	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.30714	1.52	5.13	3.09	0.35607	ATPase, AAA+ type, core (1);	0.077623	0.52532	D	0.000080	T	0.58906	0.2155	M	0.87180	2.865	0.31569	N	0.656578	D	0.89917	1.0	D	0.85130	0.997	T	0.69807	-0.5045	10	0.87932	D	0	.	13.0436	0.58915	0.4241:0.5759:0.0:0.0	.	601	Q63HN8	RN213_HUMAN	W	2528;2577;601	ENSP00000338218:R601W	ENSP00000338218:R601W	R	+	1	2	RNF213	75934312	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	1.132000	0.31418	0.698000	0.31739	-0.181000	0.13052	CGG		PASS	0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		30	11	30	11	---	---	---	---
NDUFV2	4729	broad.mit.edu	37	18	9122569	9122569	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr18:9122569C>T	ENST00000318388.6	+	5	473	c.359C>T	c.(358-360)aCa>aTa	p.T120I	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.T123I|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	120					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.T120I(1)		breast(1)|lung(4)|ovary(1)|stomach(1)	7						ACTTTTTATACAATGTATAAT	0.363																																						uc002knu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)ACA>ATA		NADH dehydrogenase ubiquinone flavoprotein 2	NADH(DB00157)						107.0	101.0	103.0					18																	9122569		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122569C>T	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.359C>T	18.37:g.9122569C>T	ENSP00000327268:p.Thr120Ile						p.T120I	NM_021074	NP_066552	P19404	NDUV2_HUMAN			5	426	+			120					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.359C>T	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194459	0.94960	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.52057	0.68;0.68	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88014	0.2764	10	0.87932	D	0	-21.9189	20.3397	0.98756	0.0:1.0:0.0:0.0	.	120	P19404	NDUV2_HUMAN	I	120;123	ENSP00000327268:T120I;ENSP00000382908:T123I	ENSP00000327268:T120I	T	+	2	0	NDUFV2	9112569	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.629000	0.83207	2.803000	0.96430	0.585000	0.79938	ACA		PASS	0.363	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		9	63	9	63	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22805745	22805745	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr18:22805745G>T	ENST00000361524.3	-	4	2285	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	ZNF521_ENST00000538137.2_Missense_Mutation_p.L713M|ZNF521_ENST00000584787.1_Missense_Mutation_p.L493M|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	713					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L713M(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTCCAGCAGGTGTTTCTGA	0.453			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2137-2139)CTG>ATG		zinc finger protein 521							120.0	116.0	118.0					18																	22805745		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805745G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2137C>A	18.37:g.22805745G>T	ENSP00000354794:p.Leu713Met					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L713M|ZNF521_uc002kvl.2_Missense_Mutation_p.L493M	p.L713M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2384	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		713			C2H2-type 16.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2137C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	7.758	0.704860	0.15172	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.78481	-1.18;-1.18	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	L	0.33668	1.02	0.40075	D	0.976062	D	0.89917	1.0	D	0.97110	1.0	T	0.76812	-0.2821	10	0.27082	T	0.32	-18.5569	11.0573	0.47927	0.1365:0.0:0.8635:0.0	.	713	Q96K83	ZN521_HUMAN	M	713;747;713	ENSP00000354794:L713M;ENSP00000382352:L713M	ENSP00000354794:L713M	L	-	1	2	ZNF521	21059743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.878000	0.56130	2.941000	0.99782	0.655000	0.94253	CTG		PASS	0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		5	75	5	75	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63477173	63477173	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr18:63477173C>A	ENST00000397968.2	+	3	870	c.444C>A	c.(442-444)gaC>gaA	p.D148E	CDH7_ENST00000323011.3_Missense_Mutation_p.D148E|CDH7_ENST00000536984.2_Missense_Mutation_p.D148E	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	148	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.D148E(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)				ATATCAACGACAATGAACCCA	0.507																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(442-444)GAC>GAA		cadherin 7, type 2 preproprotein							92.0	91.0	91.0					18																	63477173		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.chr18:63477173C>A	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.444C>A	18.37:g.63477173C>A	ENSP00000381058:p.Asp148Glu					CDH7_uc002lka.2_Missense_Mutation_p.D148E|CDH7_uc002lkb.2_Missense_Mutation_p.D148E	p.D148E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			3	769	+		Esophageal squamous(42;0.129)	148			Extracellular (Potential).|Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.444C>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749911	0.69533	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.74526	-0.85;-0.85;-0.85	5.83	4.97	0.65823	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.180895	0.48767	D	0.000174	D	0.90397	0.6994	H	0.97077	3.935	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;D	0.70227	0.968;0.953	D	0.93497	0.6841	10	0.87932	D	0	.	14.9459	0.71032	0.0:0.9317:0.0:0.0683	.	148;148	F5H5X9;Q9ULB5	.;CADH7_HUMAN	E	148	ENSP00000319166:D148E;ENSP00000443030:D148E;ENSP00000381058:D148E	ENSP00000319166:D148E	D	+	3	2	CDH7	61628153	1.000000	0.71417	0.999000	0.59377	0.657000	0.38888	3.714000	0.54889	1.478000	0.48253	0.650000	0.86243	GAC		PASS	0.507	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	71	4	71	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77477810	77477810	+	Splice_Site	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr18:77477810G>T	ENST00000299543.7	+	10	2358	c.2211G>T	c.(2209-2211)agG>agT	p.R737S	CTDP1_ENST00000075430.7_Splice_Site_p.R737S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	737					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.R737S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCTCCGACAGGGAGAACAGCC	0.677																																						uc002lnh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2209-2211)AGG>AGT		CTD (carboxy-terminal domain, RNA polymerase II,							36.0	42.0	40.0					18																	77477810		2203	4300	6503	SO:0001630	splice_region_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477810G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2211-1G>T	18.37:g.77477810G>T						CTDP1_uc002lni.1_Missense_Mutation_p.R737S|CTDP1_uc010drd.1_Missense_Mutation_p.R737S	p.R737S	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	10	2358	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	737					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2211G>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030449	0.35797	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.59638	0.25;0.25	5.12	3.33	0.38152	FCP1-like phosphatase, C-terminal (1);	0.046373	0.85682	D	0.000000	T	0.69708	0.3141	M	0.70275	2.135	0.47949	D	0.999554	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.66830	-0.5824	9	.	.	.	.	6.7604	0.23538	0.4074:0.0:0.5926:0.0	.	618;737;737	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	S	737	ENSP00000299543:R737S;ENSP00000075430:R737S	.	R	+	3	2	CTDP1	75578798	1.000000	0.71417	0.986000	0.45419	0.046000	0.14306	3.216000	0.51176	0.540000	0.28808	0.563000	0.77884	AGG		PASS	0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	Missense_Mutation	19	4	19	4	---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4254382	4254382	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:4254382G>C	ENST00000262962.7	+	4	369	c.301G>C	c.(301-303)Gag>Cag	p.E101Q		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	101								p.E101Q(1)		NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CTACACCATGGAGCATGGAGC	0.552																																						uc002lzv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GAG>CAG		coiled-coil domain containing 94							122.0	108.0	113.0					19																	4254382		2203	4300	6503	SO:0001583	missense	55702							g.chr19:4254382G>C	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.301G>C	19.37:g.4254382G>C	ENSP00000262962:p.Glu101Gln						p.E101Q	NM_018074	NP_060544	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	4	334	+			101					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.301G>C	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.339134	0.81911	.	.	ENSG00000105248	ENST00000262962	T	0.36699	1.24	5.56	4.53	0.55603	.	0.105887	0.64402	D	0.000005	T	0.63593	0.2524	H	0.94658	3.565	0.51012	D	0.999908	P	0.50528	0.936	P	0.56278	0.795	T	0.73004	-0.4119	10	0.72032	D	0.01	-19.0068	11.3371	0.49511	0.0854:0.0:0.9146:0.0	.	101	Q9BW85	CCD94_HUMAN	Q	101	ENSP00000262962:E101Q	ENSP00000262962:E101Q	E	+	1	0	CCDC94	4205382	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.207000	0.95064	1.356000	0.45884	0.431000	0.28591	GAG		PASS	0.552	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		22	36	22	36	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5751819	5751819	+	Silent	SNP	C	C	T	rs369741473		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:5751819C>T	ENST00000381624.3	+	12	1210	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	CATSPERD_ENST00000381614.2_Silent_p.H41H	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	383					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.H383H(1)									CTGAACTCCACGTTGGAAAGT	0.463																																						uc002mda.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1147-1149)CAC>CAT		transmembrane protein 146 precursor		C		1,3843		0,1,1921	68.0	62.0	64.0		1149	-7.1	0.0	19		64	0,8254		0,0,4127	no	coding-synonymous	TMEM146	NM_152784.3		0,1,6048	TT,TC,CC		0.0,0.026,0.0083		383/799	5751819	1,12097	1922	4127	6049	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5751819C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1149C>T	19.37:g.5751819C>T						TMEM146_uc010duj.1_Silent_p.H41H	p.H383H	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			12	1210	+			383			Extracellular (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1149C>T	CCDS12149.2																																																																																				PASS	0.463	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		14	28	14	28	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7625941	7625941	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:7625941G>C	ENST00000221249.6	+	33	4175	c.3744G>C	c.(3742-3744)gaG>gaC	p.E1248D	PNPLA6_ENST00000450331.3_Missense_Mutation_p.E1248D|PNPLA6_ENST00000545201.2_Missense_Mutation_p.E1221D|PNPLA6_ENST00000600737.1_Missense_Mutation_p.E1286D|PNPLA6_ENST00000414982.3_Missense_Mutation_p.E1296D	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1287					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.E1248D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACTTGGCAGAGATTGTGTCCC	0.642																																						uc010xjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3886-3888)GAG>GAC		neuropathy target esterase isoform b							32.0	31.0	31.0					19																	7625941		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7625941G>C	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3744G>C	19.37:g.7625941G>C	ENSP00000221249:p.Glu1248Asp					PNPLA6_uc002mgq.1_Missense_Mutation_p.E1248D|PNPLA6_uc010xjp.1_Missense_Mutation_p.E1221D|PNPLA6_uc002mgr.1_Missense_Mutation_p.E1248D|PNPLA6_uc002mgs.2_Missense_Mutation_p.E1286D|PNPLA6_uc002mgt.1_RNA	p.E1296D	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			32	4083	+			1287	E -> G (in Ref. 5; CAB43674).		Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3888G>C	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	16.21	3.059984	0.55325	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04970	3.54;3.6;3.52;3.54	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000003	T	0.24736	0.0600	M	0.77313	2.365	0.48087	D	0.999588	D;D;D;D	0.69078	0.995;0.991;0.997;0.991	D;D;D;D	0.68943	0.916;0.939;0.961;0.939	T	0.00819	-1.1553	10	0.66056	D	0.02	-35.1549	15.1627	0.72798	0.0:0.0:1.0:0.0	.	1287;1221;1286;1248	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	D	1248;1221;1296;1248	ENSP00000221249:E1248D;ENSP00000443323:E1221D;ENSP00000407509:E1296D;ENSP00000394348:E1248D	ENSP00000221249:E1248D	E	+	3	2	PNPLA6	7531941	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	3.133000	0.50531	2.423000	0.82170	0.561000	0.74099	GAG		PASS	0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		4	8	4	8	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072086	9072086	+	Silent	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:9072086A>G	ENST00000397910.4	-	3	15563	c.15360T>C	c.(15358-15360)tcT>tcC	p.S5120S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5122	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5120S(2)|p.S753S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGTTTATAGAAGGAAAAA	0.443																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15358-15360)TCT>TCC		mucin 16							130.0	124.0	126.0					19																	9072086		1949	4139	6088	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072086A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15360T>C	19.37:g.9072086A>G							p.S5120S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15564	-			5122			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15360T>C	CCDS54212.1																																																																																				PASS	0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	49	44	49	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11943153	11943153	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:11943153A>G	ENST00000304060.5	+	4	1326	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	388					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.R388G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATATCATGAAAGGACTCACAC	0.443																																						uc002msp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1162-1164)AGG>GGG		zinc finger protein 440							70.0	71.0	71.0					19																	11943153		2203	4299	6502	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943153A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1162A>G	19.37:g.11943153A>G	ENSP00000305373:p.Arg388Gly						p.R388G	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1318	+			388			C2H2-type 9.		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1162A>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.338412	0.41398	.	.	ENSG00000171295	ENST00000304060	T	0.02421	4.3	1.19	0.122	0.14702	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	M	0.73430	2.235	0.26652	N	0.972071	D	0.89917	1.0	D	0.80764	0.994	T	0.11446	-1.0587	9	0.59425	D	0.04	.	5.1973	0.15245	0.8149:0.0:0.1851:0.0	.	388	Q8IYI8	ZN440_HUMAN	G	388	ENSP00000305373:R388G	ENSP00000305373:R388G	R	+	1	2	ZNF440	11804153	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-0.673000	0.05239	-0.004000	0.14419	0.172000	0.16884	AGG		PASS	0.443	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		30	38	30	38	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934940	30934940	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:30934940C>T	ENST00000355537.3	+	2	618	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	157					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.P157P(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)					GCGAGAAGCCCTTCAAGTGCC	0.652																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(469-471)CCC>CCT		zinc finger protein 536							49.0	44.0	46.0					19																	30934940		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934940C>T		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.471C>T	19.37:g.30934940C>T						ZNF536_uc010edd.1_Silent_p.P157P	p.P157P	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	609	+	Esophageal squamous(110;0.0834)		157					A2RU18	Silent	SNP	ENST00000355537.3	37	c.471C>T	CCDS32984.1																																																																																				PASS	0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		16	32	16	32	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35232191	35232191	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:35232191T>C	ENST00000492450.1	+	4	994	c.905T>C	c.(904-906)tTt>tCt	p.F302S	ZNF181_ENST00000392232.3_Missense_Mutation_p.F346S|ZNF181_ENST00000459757.2_Missense_Mutation_p.F301S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	302					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.F238S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGGAAGGCCTTTAGCCATGTC	0.428																																						uc002nvu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(904-906)TTT>TCT		zinc finger protein 181 isoform 1							86.0	84.0	85.0					19																	35232191		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232191T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.905T>C	19.37:g.35232191T>C	ENSP00000420727:p.Phe302Ser					ZNF181_uc010xsa.1_Missense_Mutation_p.F301S|ZNF181_uc010xsb.1_Missense_Mutation_p.F301S|ZNF181_uc010xsc.1_Missense_Mutation_p.F237S	p.F302S	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1368	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		302			C2H2-type 3.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.905T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241443	0.58995	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.44482	0.92;0.92;0.92	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63189	0.2490	M	0.84156	2.68	0.36595	D	0.874309	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	T	0.71882	-0.4458	9	0.87932	D	0	.	9.2104	0.37316	0.0:0.0:0.0:1.0	.	301;302	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	346;301;302;301	ENSP00000376065:F346S;ENSP00000420727:F302S;ENSP00000419435:F301S	ENSP00000376065:F346S	F	+	2	0	ZNF181	39924031	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.997000	0.57016	1.481000	0.48307	0.402000	0.26972	TTT		PASS	0.428	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	62	7	62	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38055702	38055702	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:38055702G>C	ENST00000328550.2	-	4	1727	c.1628C>G	c.(1627-1629)tCa>tGa	p.S543*	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.S543*|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.S543*|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.S543*|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	543					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.S543*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTAAGGTGTGAGCCACGAAT	0.423																																						uc002ogt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1627-1629)TCA>TGA		zinc finger protein 571							101.0	102.0	102.0					19																	38055702		2203	4300	6503	SO:0001587	stop_gained	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055702G>C	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1628C>G	19.37:g.38055702G>C	ENSP00000333660:p.Ser543*					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.S543*	p.S543*	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1729	-			543			C2H2-type 15.		Q2HIY0|Q3ZCU3|Q9NZX7	Nonsense_Mutation	SNP	ENST00000328550.2	37	c.1628C>G	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048255	0.93740	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	14.517	0.67826	0.0:0.0:1.0:0.0	.	.	.	.	X	543	.	ENSP00000333660:S543X	S	-	2	0	ZNF571	42747542	0.000000	0.05858	0.041000	0.18516	0.956000	0.61745	0.760000	0.26475	1.913000	0.55393	0.460000	0.39030	TCA		PASS	0.423	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		4	29	4	29	---	---	---	---
PPP1R14A	94274	broad.mit.edu	37	19	38742961	38742961	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:38742961A>C	ENST00000301242.4	-	3	551	c.300T>G	c.(298-300)tgT>tgG	p.C100W	PPP1R14A_ENST00000587515.1_Missense_Mutation_p.C30W|PPP1R14A_ENST00000591291.1_Intron|PPP1R14A_ENST00000591585.1_Missense_Mutation_p.C100W|PPP1R14A_ENST00000347262.4_Missense_Mutation_p.C73W	NM_033256.2	NP_150281.1	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	100	Inhibitory.				regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.C100W(1)		lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGTTTCCCACATGACTTCA	0.522																																						uc002ohq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TGT>TGG		protein phosphatase 1, regulatory (inhibitor)							50.0	45.0	46.0					19																	38742961		2203	4300	6503	SO:0001583	missense	94274				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity	g.chr19:38742961A>C	AB056508	CCDS12509.1, CCDS58660.1	19q13.1	2012-04-17		2001-07-02	ENSG00000167641	ENSG00000167641		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14871	protein-coding gene	gene with protein product	"""17-kDa PKC-potentiated inhibitory protein of PP1"", ""PKC-potentiated inhibitory protein of PP1"", ""17-KDa protein"""	608153		PPP1INL		11467857	Standard	NM_033256		Approved	CPI-17	uc002ohq.3	Q96A00		ENST00000301242.4:c.300T>G	19.37:g.38742961A>C	ENSP00000301242:p.Cys100Trp					PPP1R14A_uc010efv.2_Missense_Mutation_p.C73W	p.C100W	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	493	-	all_cancers(60;9.57e-07)		100			Inhibitory.		Q7Z4X7|Q96S54	Missense_Mutation	SNP	ENST00000301242.4	37	c.300T>G	CCDS12509.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715775	0.30413	.	.	ENSG00000167641	ENST00000347262;ENST00000301242	.	.	.	3.73	-0.832	0.10785	.	0.176156	0.51477	D	0.000099	T	0.59335	0.2186	M	0.75884	2.315	0.27827	N	0.941601	D;D	0.76494	0.998;0.999	D;D	0.69307	0.957;0.963	T	0.53599	-0.8416	9	0.87932	D	0	-9.5627	6.5809	0.22594	0.4352:0.0:0.5648:0.0	.	73;100	Q96A00-2;Q96A00	.;PP14A_HUMAN	W	73;100	.	ENSP00000301242:C100W	C	-	3	2	PPP1R14A	43434801	0.979000	0.34478	0.001000	0.08648	0.004000	0.04260	1.966000	0.40481	-0.173000	0.10761	-0.487000	0.04747	TGT		PASS	0.522	PPP1R14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458164.1	NM_033256		11	11	11	11	---	---	---	---
C5AR2	27202	broad.mit.edu	37	19	47844500	47844501	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:47844500_47844501GT>AA	ENST00000595464.1	+	2	662_663	c.444_445GT>AA	c.(442-447)gcGTgc>gcAAgc	p.C149S	C5AR2_ENST00000600626.1_Missense_Mutation_p.C149S|C5AR2_ENST00000257267.2_Missense_Mutation_p.C149S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	149					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.C149S(2)|p.A148A(1)									TTCAGCGGGCGTGCGGGGTGCA	0.678																																						uc010ela.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(442-444)GCG>GCA|c.(445-447)TGC>AGC		G protein-coupled receptor 77																																				SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844500G>A|g.chr19:47844501T>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		Exception_encountered	19.37:g.47844500_47844501delinsAA	ENSP00000472620:p.Cys149Ser					GPR77_uc002pgk.1_Silent_p.A148A|GPR77_uc002pgk.1_Missense_Mutation_p.C149S	p.A148A|p.C149S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	662|663	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	148|149			Cytoplasmic (Potential).		B2RA09	Silent|Missense_Mutation	SNP	ENST00000595464.1	37	c.444G>A|c.445T>A	CCDS12699.1																																																																																				PASS	0.678	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		50|48	30	48	30	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272195	52272195	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:52272195G>C	ENST00000598776.1	+	2	1056	c.284G>C	c.(283-285)tGg>tCg	p.W95S	FPR2_ENST00000598953.1_Missense_Mutation_p.W95S|FPR2_ENST00000340023.6_Missense_Mutation_p.W95S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	95					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.W95S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCTTTTGGCTGGTTCCTGTGT	0.473																																						uc002pxr.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(283-285)TGG>TCG		formyl peptide receptor-like 1							169.0	144.0	152.0					19																	52272195		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272195G>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.284G>C	19.37:g.52272195G>C	ENSP00000468897:p.Trp95Ser					FPR2_uc002pxs.3_Missense_Mutation_p.W95S|FPR2_uc010epf.2_Missense_Mutation_p.W95S	p.W95S	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	329	+			95			Extracellular (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.284G>C	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	8.305	0.820806	0.16678	.	.	ENSG00000171049	ENST00000340023	T	0.70164	-0.46	3.61	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.726549	0.12468	U	0.466221	T	0.45657	0.1353	N	0.17082	0.46	0.45883	D	0.998733	B	0.18863	0.031	B	0.27715	0.082	T	0.17137	-1.0379	10	0.10902	T	0.67	.	6.3035	0.21125	0.0:0.207:0.5802:0.2128	.	95	P25090	FPR2_HUMAN	S	95	ENSP00000340191:W95S	ENSP00000340191:W95S	W	+	2	0	FPR2	56964007	0.010000	0.17322	1.000000	0.80357	0.962000	0.63368	-0.046000	0.11983	0.832000	0.34804	0.491000	0.48974	TGG		PASS	0.473	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		57	44	57	44	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53304795	53304795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:53304795C>T	ENST00000457749.2	-	4	422	c.303G>A	c.(301-303)tgG>tgA	p.W101*	ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Nonsense_Mutation_p.W48*|ZNF28_ENST00000414252.2_Nonsense_Mutation_p.W48*|ZNF28_ENST00000438150.2_Nonsense_Mutation_p.W48*	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	101					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.W48*(2)|p.W101*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CATCTTCTTTCCACTGAAACT	0.428																																						uc002qad.2																			3	Substitution - Nonsense(3)		lung(3)	skin(1)	1						c.(301-303)TGG>TGA		zinc finger protein 28							236.0	225.0	229.0					19																	53304795		2203	4300	6503	SO:0001587	stop_gained	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304795C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.303G>A	19.37:g.53304795C>T	ENSP00000397693:p.Trp101*					ZNF28_uc002qac.2_Nonsense_Mutation_p.W48*|ZNF28_uc010eqe.2_Nonsense_Mutation_p.W47*	p.W101*	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	423	-			101					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Nonsense_Mutation	SNP	ENST00000457749.2	37	c.303G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	12.50	1.957252	0.34565	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6752	0.28481	0.0:1.0:0.0:0.0	.	.	.	.	X	48;101;48;48;48	.	ENSP00000353410:W48X	W	-	3	0	ZNF28	57996607	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	0.041000	0.13927	1.166000	0.42689	0.298000	0.19748	TGG		PASS	0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		57	132	57	132	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54758611	54758611	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:54758611C>G	ENST00000316219.5	-	6	1349	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	LILRB5_ENST00000345866.6_Missense_Mutation_p.E314D|LILRB5_ENST00000449561.2_Missense_Mutation_p.E414D|LILRB5_ENST00000450632.1_Missense_Mutation_p.E405D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	414	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.E414D(1)|p.E405D(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACCACGAGCTCCTGGGGGT	0.632																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1240-1242)GAG>GAC		leukocyte immunoglobulin-like receptor,							92.0	78.0	83.0					19																	54758611		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758611C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1242G>C	19.37:g.54758611C>G	ENSP00000320390:p.Glu414Asp					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.E405D|LILRB5_uc002qey.2_Missense_Mutation_p.E414D|LILRB5_uc002qez.2_Missense_Mutation_p.E314D|LILRB5_uc002qfa.1_Missense_Mutation_p.E304D|LILRB5_uc010yes.1_RNA	p.E414D	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1353	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		414			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1242G>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107426	0.37145	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00882	5.58;5.58;5.58;5.58	3.17	-0.672	0.11377	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.099400	0.07219	N	0.860526	T	0.03608	0.0103	M	0.73962	2.25	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.985;0.999;0.998;0.996	D;P;D;P;P	0.76071	0.955;0.901;0.987;0.88;0.901	T	0.40683	-0.9550	10	0.72032	D	0.01	.	1.5984	0.02669	0.2145:0.4462:0.2097:0.1296	.	405;305;314;414;414	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	D	414;405;414;314	ENSP00000320390:E414D;ENSP00000414225:E405D;ENSP00000406478:E414D;ENSP00000263430:E314D	ENSP00000320390:E414D	E	-	3	2	LILRB5	59450423	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.090000	0.15025	-0.015000	0.14150	-0.154000	0.13518	GAG		PASS	0.632	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			32	22	32	22	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54782923	54782923	+	Silent	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:54782923A>G	ENST00000391749.4	-	6	970	c.699T>C	c.(697-699)ccT>ccC	p.P233P	LILRB2_ENST00000434421.1_Silent_p.P117P|LILRB2_ENST00000391748.1_Silent_p.P233P|LILRB2_ENST00000391746.1_Silent_p.P233P|LILRB2_ENST00000314446.5_Silent_p.P233P|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	233	Ig-like C2-type 3.				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.P233P(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)		GGGCCACGACAGGACCCGGCT	0.577																																						uc002qfb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(697-699)CCT>CCC		leukocyte immunoglobulin-like receptor,							90.0	92.0	91.0					19																	54782923		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:54782923A>G	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.699T>C	19.37:g.54782923A>G						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.P233P|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.P233P|LILRB2_uc010yet.1_Silent_p.P117P|LILRB2_uc010yeu.1_Intron	p.P233P	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	965	-	Ovarian(34;0.19)		233			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.699T>C	CCDS12886.1																																																																																				PASS	0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			36	47	36	47	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106308	55106308	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:55106308C>T	ENST00000251372.3	+	4	431	c.249C>T	c.(247-249)ttC>ttT	p.F83F	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.F83F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	83	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.F83F(1)|p.F83L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGGCCAGTTCCCCATCCCAT	0.567																																						uc002qgh.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(2)|ovary(1)	3						c.(247-249)TTC>TTT		leukocyte immunoglobulin-like receptor,							166.0	155.0	159.0					19																	55106308		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106308C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.249C>T	19.37:g.55106308C>T						LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.F83F	p.F83F	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	431	+			83			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.249C>T	CCDS12901.1																																																																																				PASS	0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		7	129	7	129	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143129	55143129	+	Silent	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:55143129C>T	ENST00000396331.1	+	5	606	c.249C>T	c.(247-249)ttC>ttT	p.F83F	LILRB1_ENST00000427581.2_Silent_p.F119F|LILRB1_ENST00000396317.1_Silent_p.F83F|LILRB1_ENST00000324602.7_Silent_p.F83F|LILRB1_ENST00000396315.1_Silent_p.F83F|LILRB1_ENST00000434867.2_Silent_p.F83F|LILRB1_ENST00000448689.1_Silent_p.F83F|LILRB1_ENST00000396327.3_Silent_p.F83F|LILRB1_ENST00000396332.4_Silent_p.F83F|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Silent_p.F83F|LILRB1_ENST00000396321.2_Silent_p.F83F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	83	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.F83F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGGCCAGTTCCCCATCCCAT	0.567										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(247-249)TTC>TTT		leukocyte immunoglobulin-like receptor,							174.0	163.0	167.0					19																	55143129		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143129C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.249C>T	19.37:g.55143129C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.F83F|LILRB1_uc002qgk.2_Silent_p.F83F|LILRB1_uc002qgm.2_Silent_p.F83F|LILRB1_uc010erq.2_Silent_p.F83F|LILRB1_uc010err.2_RNA	p.F83F	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	589	+			83			Ig-like C2-type 1.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.249C>T	CCDS42617.1																																																																																				PASS	0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			59	70	59	70	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55351040	55351040	+	Intron	SNP	G	G	A	rs3189418		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:55351040G>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P176P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATTCCAGGCCGACTTTCCTCT	0.587													.|||	1	0.000199681	0.0	0.0	5008	,	,		14976	0.001		0.0	False		,,,				2504	0.0					uc002qhm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)GAC>AAC		killer cell immunoglobulin-like receptor, two							194.0	178.0	183.0					19																	55351040		2172	4159	6331	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55351040G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14507G>A	19.37:g.55351040G>A						KIR2DS4_uc010yfj.1_Silent_p.P169P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P176P|KIR2DS4_uc002qhn.1_Intron	p.D184N	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	5	596	+			184			Extracellular (Potential).|Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.550G>A																																																																																					PASS	0.587	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		53	46	53	46	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451776	55451776	+	Silent	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:55451776G>T	ENST00000590030.1	-	3	451	c.411C>A	c.(409-411)acC>acA	p.T137T	NLRP7_ENST00000446217.1_Silent_p.T165T|NLRP7_ENST00000448121.2_Silent_p.T137T|NLRP7_ENST00000340844.2_Silent_p.T137T|NLRP7_ENST00000328092.5_Silent_p.T137T|NLRP7_ENST00000592784.1_Silent_p.T137T|NLRP7_ENST00000588756.1_Silent_p.T137T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	137							ATP binding (GO:0005524)	p.T137T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTGCCAAAAGGTGTTCTTCC	0.453																																						uc002qih.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(409-411)ACC>ACA		NACHT, leucine rich repeat and PYD containing 7							295.0	322.0	313.0					19																	55451776		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451776G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.411C>A	19.37:g.55451776G>T						NLRP7_uc002qig.3_Silent_p.T137T|NLRP7_uc002qii.3_Silent_p.T137T|NLRP7_uc010esk.2_Silent_p.T137T|NLRP7_uc010esl.2_Silent_p.T165T	p.T137T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	487	-			137					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.411C>A	CCDS33109.1																																																																																				PASS	0.453	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		218	208	218	208	---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55652325	55652325	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:55652325G>A	ENST00000588981.1	-	9	517	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	TNNT1_ENST00000536926.1_Missense_Mutation_p.R94W|TNNT1_ENST00000587758.1_Missense_Mutation_p.R94W|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587465.2_Missense_Mutation_p.R35W|TNNT1_ENST00000356783.5_Missense_Mutation_p.R94W|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000585321.2_Missense_Mutation_p.R35W|TNNT1_ENST00000291901.8_Missense_Mutation_p.R105W	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	105					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.R105W(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GACCGGCGCCGCTCCTGGGAA	0.607											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qjb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)CGG>TGG		troponin T1, skeletal, slow isoform a							50.0	47.0	48.0					19																	55652325		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55652325G>A		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.313C>T	19.37:g.55652325G>A	ENSP00000467176:p.Arg105Trp		OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	TNNT1_uc002qiz.3_Missense_Mutation_p.R35W|TNNT1_uc002qja.3_Missense_Mutation_p.R35W|TNNT1_uc002qjc.3_Missense_Mutation_p.R105W|TNNT1_uc002qje.3_Missense_Mutation_p.R94W|TNNT1_uc002qjd.3_Missense_Mutation_p.R94W|TNNT1_uc002qjf.2_Missense_Mutation_p.R101W	p.R105W	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	9	402	-			105					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.313C>T	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158403	0.38119	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.92495	-3.05;-3.05;-3.05	4.24	1.74	0.24563	.	0.189388	0.43260	D	0.000591	D	0.94971	0.8373	M	0.81682	2.555	0.52501	D	0.999959	D;D;D;D;D	0.89917	0.997;0.998;0.999;1.0;0.998	P;P;P;D;P	0.68192	0.828;0.9;0.9;0.956;0.9	D	0.93846	0.7141	10	0.87932	D	0	-26.5525	10.799	0.46476	0.0:0.0:0.5767:0.4233	.	105;94;105;105;94	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	W	105;94;94;35;120	ENSP00000291901:R105W;ENSP00000349233:R94W;ENSP00000439640:R94W	ENSP00000291901:R105W	R	-	1	2	TNNT1	60344137	0.046000	0.20272	1.000000	0.80357	0.197000	0.23852	0.164000	0.16542	0.175000	0.19841	-0.314000	0.08810	CGG		PASS	0.607	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		25	20	25	20	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56515098	56515098	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:56515098A>T	ENST00000390649.3	+	2	79	c.79A>T	c.(79-81)Aca>Tca	p.T27S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	27					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.T27S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACTCTTTCCACAGGTCCTAC	0.418																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(79-81)ACA>TCA		NACHT, LRR and PYD containing protein 5							108.0	103.0	105.0					19																	56515098		1852	4106	5958	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515098A>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.79A>T	19.37:g.56515098A>T	ENSP00000375063:p.Thr27Ser					NLRP5_uc002qmi.2_Missense_Mutation_p.T27S	p.T27S	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	79	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	27					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.79A>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393681	0.42410	.	.	ENSG00000171487	ENST00000390649	T	0.72051	-0.62	2.88	-1.93	0.07594	.	.	.	.	.	T	0.41926	0.1180	N	0.08118	0	0.09310	N	1	P	0.43024	0.798	B	0.36289	0.221	T	0.36744	-0.9735	9	0.87932	D	0	.	3.8804	0.09076	0.4652:0.196:0.3388:0.0	.	27	P59047	NALP5_HUMAN	S	27	ENSP00000375063:T27S	ENSP00000375063:T27S	T	+	1	0	NLRP5	61206910	0.026000	0.19158	0.013000	0.15412	0.232000	0.25224	-0.171000	0.09883	-0.568000	0.06038	0.456000	0.33151	ACA		PASS	0.418	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		48	34	48	34	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1616857	1616857	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:1616857G>C	ENST00000303415.3	-	3	789	c.725C>G	c.(724-726)gCc>gGc	p.A242G	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381580.1_Missense_Mutation_p.A209G|SIRPG_ENST00000381583.2_Missense_Mutation_p.A242G|SIRPG_ENST00000216927.4_Missense_Mutation_p.A242G|RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	242	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A242G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGACAAGTTGGCAGTCCCACG	0.637																																						uc002wfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)GCC>GGC		signal-regulatory protein gamma isoform 1							81.0	75.0	77.0					20																	1616857		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616857G>C	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.725C>G	20.37:g.1616857G>C	ENSP00000305529:p.Ala242Gly					SIRPG_uc002wfn.1_Missense_Mutation_p.A242G|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	p.A242G	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			3	790	-			242			Extracellular (Potential).|Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.725C>G	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	15.84	2.951552	0.53186	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.12465	3.09;2.68;5.09;5.09	1.95	0.756	0.18421	Immunoglobulin-like (1);	0.827179	0.10731	N	0.640581	T	0.31104	0.0786	M	0.80982	2.52	0.09310	N	1	D;D	0.62365	0.991;0.986	D;P	0.67103	0.949;0.846	T	0.09552	-1.0669	10	0.41790	T	0.15	.	4.8738	0.13646	0.0:0.0:0.6407:0.3593	.	242;242	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	G	209;242;242;242	ENSP00000370992:A209G;ENSP00000305529:A242G;ENSP00000370995:A242G;ENSP00000216927:A242G	ENSP00000216927:A242G	A	-	2	0	SIRPG	1564857	0.276000	0.24211	0.549000	0.28204	0.591000	0.36615	0.332000	0.19751	1.070000	0.40811	0.195000	0.17529	GCC		PASS	0.637	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		20	32	20	32	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1915374	1915374	+	Nonsense_Mutation	SNP	G	G	T	rs141454528		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:1915374G>T	ENST00000358771.4	+	7	1392	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.E414*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.E414*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	414					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E414*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCATGAGCCCGAGAAGAATGC	0.448																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1240-1242)GAG>TAG		signal-regulatory protein alpha precursor							160.0	138.0	146.0					20																	1915374		2203	4300	6503	SO:0001587	stop_gained	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1915374G>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1240G>T	20.37:g.1915374G>T	ENSP00000351621:p.Glu414*					SIRPA_uc010zps.1_Nonsense_Mutation_p.E394*|SIRPA_uc002wfr.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wfs.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wft.2_Nonsense_Mutation_p.E414*	p.E414*	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1600	+			414			Cytoplasmic (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	ENST00000358771.4	37	c.1240G>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831038	0.97003	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.43	4.43	0.53597	.	0.144057	0.31834	N	0.006984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.7286	0.57185	0.0:0.0:1.0:0.0	.	.	.	.	X	414	.	ENSP00000348307:E414X	E	+	1	0	SIRPA	1863374	0.999000	0.42202	0.996000	0.52242	0.937000	0.57800	3.752000	0.55172	2.456000	0.83038	0.561000	0.74099	GAG		PASS	0.448	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		51	59	51	59	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3218266	3218266	+	Silent	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:3218266A>G	ENST00000380056.3	-	1	107	c.60T>C	c.(58-60)caT>caC	p.H20H	SLC4A11_ENST00000380059.3_Intron|SLC4A11_ENST00000539553.2_Intron	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	20					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.H20H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CACCAGCCCCATGGACCAAGC	0.592																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(58-60)CAT>CAC		solute carrier family 4 member 11							216.0	173.0	188.0					20																	3218266		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3218266A>G	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.60T>C	20.37:g.3218266A>G						SLC4A11_uc010zqe.1_Intron|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Intron	p.H20H	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			1	108	-			20			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.60T>C	CCDS13052.1																																																																																				PASS	0.592	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			8	87	8	87	---	---	---	---
HSPA12B	116835	broad.mit.edu	37	20	3725561	3725561	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:3725561C>A	ENST00000254963.2	+	5	424	c.279C>A	c.(277-279)ggC>ggA	p.G93G	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	93							ATP binding (GO:0005524)	p.G93G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AATGGGAGGGCGGAGACCCGG	0.622																																						uc002wjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GGC>GGA		heat shock 70kD protein 12B							40.0	47.0	45.0					20																	3725561		2203	4300	6503	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3725561C>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.279C>A	20.37:g.3725561C>A						HSPA12B_uc010zqi.1_Silent_p.G93G|HSPA12B_uc002wje.2_Silent_p.G6G|HSPA12B_uc010zqj.1_5'UTR	p.G93G	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			5	382	+			93					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.279C>A	CCDS13061.1																																																																																				PASS	0.622	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		25	37	25	37	---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680514	4680514	+	Silent	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:4680514C>A	ENST00000379440.4	+	2	935	c.648C>A	c.(646-648)acC>acA	p.T216T	PRNP_ENST00000430350.2_Silent_p.T216T	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.T216T(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGTGTATCACCCAGTACGAGA	0.532																																						uc002wku.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(646-648)ACC>ACA		prion protein preproprotein	Tetracycline(DB00759)						146.0	124.0	131.0					20																	4680514		2203	4300	6503	SO:0001819	synonymous_variant	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680514C>A	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.648C>A	20.37:g.4680514C>A						PRNP_uc002wkv.2_Silent_p.T216T|PRNP_uc002wkw.2_Silent_p.T216T|PRNP_uc002wkx.2_Silent_p.T216T|PRNP_uc002wkt.1_Silent_p.T186T|PRNP_uc002wky.2_Silent_p.T216T|PRNP_uc010gbe.1_Silent_p.T216T	p.T216T	NM_001080122	NP_001073591	P04156	PRIO_HUMAN			2	1011	+			216			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.648C>A	CCDS13080.1																																																																																				PASS	0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		5	66	5	66	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20493389	20493389	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:20493389G>C	ENST00000202677.7	-	32	4631	c.4624C>G	c.(4624-4626)Cta>Gta	p.L1542V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1542					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1542V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGTTCATTTAGATTTAGCTGT	0.413																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4624-4626)CTA>GTA		akt substrate AS250							169.0	157.0	160.0					20																	20493389		1919	4138	6057	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493389G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4624C>G	20.37:g.20493389G>C	ENSP00000202677:p.Leu1542Val					RALGAPA2_uc010gcx.2_Missense_Mutation_p.L1246V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.L990V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.L314V	p.L1542V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4767	-			1542					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4624C>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.055202|4.055202	0.75960|0.75960	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.94280	.|-3.39	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.97062|0.97062	0.9040|0.9040	M|M	0.89095|0.89095	3.005|3.005	0.52099|0.52099	D|D	0.999947|0.999947	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.999	D|D	0.97015|0.97015	0.9739|0.9739	5|9	.|.	.|.	.|.	.|.	14.832|14.832	0.70156|0.70156	0.0681:0.0:0.9319:0.0|0.0681:0.0:0.9319:0.0	.|.	.|1380;1542;1542	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	M|V	1358|1542	.|ENSP00000202677:L1542V	.|.	I|L	-|-	3|1	3|2	RALGAPA2|RALGAPA2	20441389|20441389	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.986000|0.986000	0.74619|0.74619	6.272000|6.272000	0.72575|0.72575	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	ATC|CTA		PASS	0.413	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		32	120	32	120	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:24523840G>C	ENST00000376862.3	+	2	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	36					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.R36T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562																																						uc002wtw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AGA>ACA		transmembrane protein 90B							77.0	79.0	78.0					20																	24523840		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523840G>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.107G>C	20.37:g.24523840G>C	ENSP00000366058:p.Arg36Thr						p.R36T	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	740	+			36			Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.107G>C	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049977	0.36181	.	.	ENSG00000101463	ENST00000376862	D	0.90563	-2.69	5.95	5.95	0.96441	.	0.162448	0.51477	D	0.000097	D	0.88709	0.6510	L	0.57536	1.79	0.40553	D	0.981135	B	0.27229	0.172	B	0.21917	0.037	D	0.85919	0.1445	10	0.46703	T	0.11	-28.1544	15.8713	0.79122	0.0:0.0:1.0:0.0	.	36	Q9H7V2	SYNG1_HUMAN	T	36	ENSP00000366058:R36T	ENSP00000366058:R36T	R	+	2	0	SYNDIG1	24471840	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.115000	0.57865	2.822000	0.97130	0.655000	0.94253	AGA		PASS	0.562	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		5	90	5	90	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656728	25656728	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:25656728G>A	ENST00000376436.1	-	4	1735	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.S399L|ZNF337_ENST00000538750.1_Missense_Mutation_p.S367L|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	399					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.S399L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCTCCCCTGAGTGTGTTCT	0.498																																						uc002wva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)TCA>TTA		zinc finger protein 337							114.0	101.0	105.0					20																	25656728		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656728G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1196C>T	20.37:g.25656728G>A	ENSP00000365619:p.Ser399Leu					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.S367L|ZNF337_uc002wvb.2_Missense_Mutation_p.S399L|ZNF337_uc002wvc.2_Missense_Mutation_p.S399L	p.S399L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1718	-			399					B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1196C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	26.7	4.764432	0.89932	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18960	2.18;2.18;2.18	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16300	0.0392	L	0.45581	1.43	0.28200	N	0.927388	P;P	0.36587	0.559;0.559	B;B	0.30572	0.117;0.117	T	0.15636	-1.0430	9	0.87932	D	0	.	8.1585	0.31185	0.0:0.0:1.0:0.0	.	367;399	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	L	399;399;399;367	ENSP00000365619:S399L;ENSP00000252979:S399L;ENSP00000442181:S367L	ENSP00000252979:S399L	S	-	2	0	ZNF337	25604728	0.998000	0.40836	0.012000	0.15200	0.982000	0.71751	2.931000	0.48932	0.897000	0.36392	0.306000	0.20318	TCA		PASS	0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			24	75	24	75	---	---	---	---
BPIFA1	51297	broad.mit.edu	37	20	31825574	31825575	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:31825574_31825575CC>AT	ENST00000354297.4	+	2	128_129	c.57_58CC>AT	c.(55-60)gcCCag>gcATag	p.Q20*	BPIFA1_ENST00000375413.4_Nonsense_Mutation_p.Q20*|BPIFA1_ENST00000375422.2_Nonsense_Mutation_p.Q20*	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	20					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.Q20*(2)|p.A19A(1)									AGACCATGGCCCAGTTTGGAGG	0.55																																						uc002wyv.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(55-57)GCC>GCA|c.(58-60)CAG>TAG		palate, lung and nasal epithelium associated																																				SO:0001587	stop_gained	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825574C>A|g.chr20:31825575C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	Exception_encountered	20.37:g.31825574_31825575delinsAT	ENSP00000346251:p.Gln20*					PLUNC_uc002wyt.3_Silent_p.A19A|PLUNC_uc002wyu.3_Silent_p.A19A|PLUNC_uc002wyt.3_Nonsense_Mutation_p.Q20*|PLUNC_uc002wyu.3_Nonsense_Mutation_p.Q20*	p.A19A|p.Q20*	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			2	127|128	+			19|20					A8K9R3|E1P5M9|Q9NZT0	Silent|Nonsense_Mutation	SNP	ENST00000354297.4	37	c.57C>A|c.58C>T	CCDS13217.1																																																																																				PASS	0.550	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		15|17	32	15	32	---	---	---	---
CHMP4B	128866	broad.mit.edu	37	20	32439921	32439921	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:32439921G>T	ENST00000217402.2	+	4	687	c.522G>T	c.(520-522)gaG>gaT	p.E174D		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	174					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.E174D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAGAACAGGAGGAACTAGACA	0.507																																						uc002xaa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(520-522)GAG>GAT		chromatin modifying protein 4B							136.0	133.0	134.0					20																	32439921		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32439921G>T	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.522G>T	20.37:g.32439921G>T	ENSP00000217402:p.Glu174Asp						p.E174D	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			4	678	+			174			Potential.		E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.522G>T	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316879	0.81469	.	.	ENSG00000101421	ENST00000217402	T	0.78816	-1.21	6.11	-1.18	0.09617	.	0.094998	0.64402	D	0.000001	T	0.81163	0.4765	M	0.77486	2.375	0.58432	D	0.999997	P	0.50156	0.932	P	0.53102	0.718	T	0.80725	-0.1254	10	0.56958	D	0.05	-25.4781	10.962	0.47391	0.6432:0.0:0.3568:0.0	.	174	Q9H444	CHM4B_HUMAN	D	174	ENSP00000217402:E174D	ENSP00000217402:E174D	E	+	3	2	CHMP4B	31903582	0.994000	0.37717	0.996000	0.52242	0.999000	0.98932	0.419000	0.21247	-0.057000	0.13199	0.609000	0.83330	GAG		PASS	0.507	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			6	121	6	121	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33575001	33575001	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:33575001A>G	ENST00000262873.7	+	14	1276	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	353	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Y395C(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGTGCCTGCTATAAGATCGTG	0.607																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1183-1185)TAT>TGT		myosin, heavy polypeptide 7B, cardiac muscle,							78.0	81.0	80.0					20																	33575001		2203	4300	6503	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575001A>G	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1184A>G	20.37:g.33575001A>G	ENSP00000262873:p.Tyr395Cys						p.Y395C	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		14	1276	+			353			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1184A>G	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080813	0.76528	.	.	ENSG00000078814	ENST00000262873	D	0.87256	-2.23	3.67	3.67	0.42095	Myosin head, motor domain (2);	0.000000	0.34386	N	0.004016	D	0.95541	0.8551	H	0.97540	4.025	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96738	0.9544	10	0.87932	D	0	.	13.3901	0.60818	1.0:0.0:0.0:0.0	.	353	A7E2Y1	MYH7B_HUMAN	C	395	ENSP00000262873:Y395C	ENSP00000262873:Y395C	Y	+	2	0	MYH7B	33038662	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.139000	0.94554	1.919000	0.55581	0.459000	0.35465	TAT		PASS	0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		36	68	36	68	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580566	37580566	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:37580566T>C	ENST00000217429.4	+	4	1292	c.1251T>C	c.(1249-1251)atT>atC	p.I417I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	387					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I417I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAAAGGCCATTGACGCTGCCA	0.567																																						uc002xjg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1249-1251)ATT>ATC		hypothetical protein LOC81610							47.0	51.0	50.0					20																	37580566		2164	4250	6414	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580566T>C	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1251T>C	20.37:g.37580566T>C							p.I417I	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1292	+		Myeloproliferative disorder(115;0.00878)	387					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.1251T>C	CCDS42872.1																																																																																				PASS	0.567	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			15	22	15	22	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43932922	43932922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:43932922C>A	ENST00000372754.1	-	2	597	c.589G>T	c.(589-591)Gag>Tag	p.E197*	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000353917.5_Nonsense_Mutation_p.E197*|MATN4_ENST00000342716.4_Nonsense_Mutation_p.E197*|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Nonsense_Mutation_p.E197*|MATN4_ENST00000372756.1_Nonsense_Mutation_p.E197*|MATN4_ENST00000360607.6_Nonsense_Mutation_p.E197*|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	197	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.E197*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCGAAGGACTCTACGAGGAAG	0.627																																						uc002xnn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(589-591)GAG>TAG		matrilin 4 isoform 1 precursor							48.0	47.0	47.0					20																	43932922		2202	4298	6500	SO:0001587	stop_gained	8785					extracellular region	protein binding	g.chr20:43932922C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.589G>T	20.37:g.43932922C>A	ENSP00000361840:p.Glu197*					MATN4_uc002xno.2_Nonsense_Mutation_p.E197*|MATN4_uc002xnp.2_Nonsense_Mutation_p.E197*|MATN4_uc010zwr.1_Nonsense_Mutation_p.E145*|MATN4_uc002xnr.1_Nonsense_Mutation_p.E197*|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.E197*	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	776	-		Myeloproliferative disorder(115;0.0122)	197			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Nonsense_Mutation	SNP	ENST00000372754.1	37	c.589G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.397150	0.97533	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	.	.	.	4.81	4.81	0.61882	.	0.153645	0.30285	N	0.009980	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000255132:E197X	E	-	1	0	MATN4	43366336	1.000000	0.71417	0.868000	0.34077	0.995000	0.86356	7.609000	0.82925	2.506000	0.84524	0.462000	0.41574	GAG		PASS	0.627	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			5	80	5	80	---	---	---	---
SLC35C2	51006	broad.mit.edu	37	20	44986276	44986276	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:44986276C>A	ENST00000372227.1	-	3	797	c.257G>T	c.(256-258)aGa>aTa	p.R86I	SLC35C2_ENST00000372230.5_Missense_Mutation_p.R86I|SLC35C2_ENST00000243896.2_Missense_Mutation_p.R86I|SLC35C2_ENST00000543605.1_Missense_Mutation_p.R115I|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000317734.8_Missense_Mutation_p.R86I	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	86					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R86I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GGGAGCCACTCTTCTGAGGTA	0.627																																						uc002xro.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)AGA>ATA		solute carrier family 35, member C2 isoform a							86.0	88.0	87.0					20																	44986276		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44986276C>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.257G>T	20.37:g.44986276C>A	ENSP00000361301:p.Arg86Ile					SLC35C2_uc002xrp.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrq.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrr.2_Missense_Mutation_p.R86I|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.R115I	p.R86I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN			3	798	-		Myeloproliferative disorder(115;0.0122)	86					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.257G>T	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522417	0.44866	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372230;ENST00000372223;ENST00000543605;ENST00000420518;ENST00000424568	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	4.39	2.41	0.29592	.	0.325220	0.31392	N	0.007736	D	0.89497	0.6732	M	0.79343	2.45	0.53005	D	0.999968	B;B;B	0.23316	0.083;0.061;0.07	B;B;B	0.21917	0.028;0.037;0.01	D	0.84470	0.0599	10	0.54805	T	0.06	-1.0051	5.2998	0.15772	0.0:0.6448:0.1709:0.1842	.	115;86;86	F5H4T9;Q9NQQ7-2;Q9NQQ7	.;.;S35C2_HUMAN	I	86;86;86;86;86;115;86;86	ENSP00000318960:R86I;ENSP00000243896:R86I;ENSP00000361301:R86I;ENSP00000361304:R86I;ENSP00000439974:R115I	ENSP00000243896:R86I	R	-	2	0	SLC35C2	44419683	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	1.865000	0.39479	0.568000	0.29311	0.563000	0.77884	AGA		PASS	0.627	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		27	57	27	57	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46254215	46254215	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:46254215T>G	ENST00000371998.3	+	5	538	c.347T>G	c.(346-348)cTt>cGt	p.L116R	NCOA3_ENST00000372004.3_Missense_Mutation_p.L116R|NCOA3_ENST00000371997.3_Missense_Mutation_p.L116R|NCOA3_ENST00000341724.6_Missense_Mutation_p.L116R			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	116	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.L116R(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTAGGACCGCTTTTACTTCAG	0.348																																						uc002xtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(346-348)CTT>CGT		nuclear receptor coactivator 3 isoform a							86.0	81.0	83.0					20																	46254215		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46254215T>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.347T>G	20.37:g.46254215T>G	ENSP00000361066:p.Leu116Arg					NCOA3_uc010ght.1_Missense_Mutation_p.L116R|NCOA3_uc002xtl.2_Missense_Mutation_p.L116R|NCOA3_uc002xtm.2_Missense_Mutation_p.L116R|NCOA3_uc002xtn.2_Missense_Mutation_p.L116R|NCOA3_uc010zyc.1_5'Flank	p.L116R	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			5	552	+			116			PAS.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.347T>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084476	0.76642	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03745	3.82;4.01;4.01;3.85	5.62	5.62	0.85841	PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.97110	1.0;0.99;0.99;0.993;0.99	T	0.16247	-1.0409	10	0.87932	D	0	-19.2654	15.8195	0.78628	0.0:0.0:0.0:1.0	.	116;120;116;116;116	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	R	116	ENSP00000342123:L116R;ENSP00000361073:L116R;ENSP00000361066:L116R;ENSP00000361065:L116R	ENSP00000345671:L116R	L	+	2	0	NCOA3	45687622	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	8.040000	0.89188	2.146000	0.66826	0.383000	0.25322	CTT		PASS	0.348	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	52	5	52	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872343	51872343	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:51872343T>C	ENST00000371497.5	+	2	3233	c.2346T>C	c.(2344-2346)tcT>tcC	p.S782S	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.S779S|TSHZ2_ENST00000603338.2_Silent_p.S779S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	782					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S782S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATCTTGTATGTCCC	0.572																																						uc002xwo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2344-2346)TCT>TCC		teashirt zinc finger homeobox 2							111.0	105.0	107.0					20																	51872343		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872343T>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2346T>C	20.37:g.51872343T>C							p.S782S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3302	+			782					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2346T>C	CCDS33490.1																																																																																				PASS	0.572	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		42	88	42	88	---	---	---	---
SPO11	23626	broad.mit.edu	37	20	55906898	55906898	+	Silent	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:55906898T>C	ENST00000371263.3	+	2	250	c.141T>C	c.(139-141)gtT>gtC	p.V47V	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	47					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.V47V(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GTTCTGAGGTTCTTGCATCTA	0.328								Editing and processing nucleases																														uc002xye.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(139-141)GTT>GTC	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							130.0	141.0	137.0					20																	55906898		2203	4300	6503	SO:0001819	synonymous_variant	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55906898T>C	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.141T>C	20.37:g.55906898T>C						SPO11_uc002xyf.2_Intron	p.V47V	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	234	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		47					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	c.141T>C	CCDS13456.1																																																																																				PASS	0.328	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		7	152	7	152	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768671	57768671	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:57768671C>T	ENST00000371030.2	+	1	2597	c.2597C>T	c.(2596-2598)cCa>cTa	p.P866L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	866							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P866L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGAGGTGCCAGGGGGCTCA	0.652																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(2596-2598)CCA>CTA		zinc finger protein 831							32.0	38.0	36.0					20																	57768671		1957	4144	6101	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768671C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2597C>T	20.37:g.57768671C>T	ENSP00000360069:p.Pro866Leu						p.P866L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2597	+	all_lung(29;0.0085)		866					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2597C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	8.194	0.796564	0.16327	.	.	ENSG00000124203	ENST00000371030	T	0.04406	3.63	4.76	2.8	0.32819	.	0.892956	0.09523	N	0.790657	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46512	-0.9186	10	0.35671	T	0.21	0.4259	7.0588	0.25113	0.0:0.7829:0.0:0.2171	.	866	Q5JPB2	ZN831_HUMAN	L	866	ENSP00000360069:P866L	ENSP00000360069:P866L	P	+	2	0	ZNF831	57202066	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.141000	0.10327	0.512000	0.28257	0.655000	0.94253	CCA		PASS	0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		20	22	20	22	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58581786	58581786	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:58581786A>G	ENST00000244047.5	+	15	2427	c.2116A>G	c.(2116-2118)Atg>Gtg	p.M706V	CDH26_ENST00000350849.6_Missense_Mutation_p.M80V|CDH26_ENST00000244049.3_Missense_Mutation_p.M39V|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.M747V			Q8IXH8	CAD26_HUMAN	cadherin 26	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M747V(1)|p.M706V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGATGCCACAATGCACAGACA	0.557																																						uc002ybe.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(2239-2241)ATG>GTG		cadherin-like 26 isoform a							157.0	138.0	144.0					20																	58581786		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58581786A>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2116A>G	20.37:g.58581786A>G	ENSP00000244047:p.Met706Val					CDH26_uc002ybf.1_Missense_Mutation_p.M286V|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.M238V|CDH26_uc002ybh.2_Missense_Mutation_p.M80V|CDH26_uc002ybi.2_Missense_Mutation_p.M39V	p.M747V	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		17	2539	+	all_lung(29;0.00963)		706			Cytoplasmic (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2239A>G		.	.	.	.	.	.	.	.	.	.	A	0.593	-0.832414	0.02713	.	.	ENSG00000124215	ENST00000244047;ENST00000348616;ENST00000244049;ENST00000350849;ENST00000456106	T;T;T	0.53857	0.6;0.6;0.6	2.48	1.52	0.23074	.	0.449082	0.16606	N	0.207121	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.11792	-1.0573	10	0.29301	T	0.29	.	5.1891	0.15199	0.1691:0.0:0.8309:0.0	.	39;80;706;747	Q8IXH8-5;Q8IXH8-2;Q8IXH8;Q8IXH8-4	.;.;CAD26_HUMAN;.	V	706;747;39;80;57	ENSP00000244047:M706V;ENSP00000339390:M747V;ENSP00000310845:M80V	ENSP00000244047:M706V	M	+	1	0	CDH26	58015181	0.006000	0.16342	0.371000	0.25978	0.001000	0.01503	0.624000	0.24462	0.634000	0.30469	-0.230000	0.12252	ATG		PASS	0.557	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		22	60	22	60	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60504842	60504842	+	Silent	SNP	G	G	A	rs151300553	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:60504842G>A	ENST00000360469.5	+	13	2269	c.2181G>A	c.(2179-2181)gcG>gcA	p.A727A	CDH4_ENST00000543233.1_Silent_p.A653A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	727					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A727A(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAGTGGCAGCGGCTGGTCTGG	0.607													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0					uc002ybn.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2179-2181)GCG>GCA		cadherin 4, type 1 preproprotein		G		1,4405	2.1+/-5.4	0,1,2202	117.0	89.0	99.0		2181	-8.3	0.1	20	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		727/917	60504842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504842G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2181G>A	20.37:g.60504842G>A						CDH4_uc002ybp.1_Silent_p.A653A	p.A727A	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2195	+			727			Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2181G>A	CCDS13488.1																																																																																				PASS	0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		12	34	12	34	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60885614	60885614	+	Silent	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:60885614G>A	ENST00000252999.3	-	76	10527	c.10461C>T	c.(10459-10461)ttC>ttT	p.F3487F	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3487	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.F3487F(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACAGCCGCTGAACCCGACGG	0.682																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(10459-10461)TTC>TTT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						26.0	35.0	32.0					20																	60885614		2106	4170	6276	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885614G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10461C>T	20.37:g.60885614G>A							p.F3487F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		76	10528	-	Breast(26;1.57e-08)		3487			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10461C>T	CCDS33502.1																																																																																				PASS	0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		25	23	25	23	---	---	---	---
SLCO4A1	28231	broad.mit.edu	37	20	61288084	61288084	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:61288084C>T	ENST00000370507.1	+	1	374	c.278C>T	c.(277-279)cCg>cTg	p.P93L	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.P93L			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	93					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P93L(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCCTTCGCACCGCCGTGCCTG	0.662																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)CCG>CTG		solute carrier organic anion transporter family							26.0	23.0	24.0					20																	61288084		2200	4300	6500	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288084C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.278C>T	20.37:g.61288084C>T	ENSP00000359538:p.Pro93Leu					SLCO4A1_uc002ydc.1_RNA	p.P93L	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	483	+	Breast(26;3.65e-08)		93			Cytoplasmic (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.278C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312622	0.60414	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.48836	0.8;0.8	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72001	-0.4422	10	0.66056	D	0.02	.	17.3394	0.87291	0.0:1.0:0.0:0.0	.	93	Q96BD0	SO4A1_HUMAN	L	93	ENSP00000217159:P93L;ENSP00000359538:P93L	ENSP00000217159:P93L	P	+	2	0	SLCO4A1	60758529	0.998000	0.40836	0.043000	0.18650	0.058000	0.15608	4.476000	0.60216	2.085000	0.62840	0.462000	0.41574	CCG		PASS	0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		15	8	15	8	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525406	61525406	+	Missense_Mutation	SNP	C	C	T	rs375745041		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr20:61525406C>T	ENST00000266070.4	-	12	3038	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E905K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E905K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E905K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	905					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E905K(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCACAGCCTCCGGCATCACC	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2713-2715)GAG>AAG		death inducer-obliterator 1 isoform c							95.0	97.0	96.0					20																	61525406		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525406C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2713G>A	20.37:g.61525406C>T	ENSP00000266070:p.Glu905Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E905K|DIDO1_uc002ydt.1_Missense_Mutation_p.E905K|DIDO1_uc002ydu.1_Missense_Mutation_p.E905K	p.E905K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			12	2977	-	Breast(26;5.68e-08)		905					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2713G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308507	0.60305	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12147	3.02;3.02;2.71;2.71	6.17	5.24	0.73138	.	0.325815	0.21619	N	0.071663	T	0.18215	0.0437	M	0.63843	1.955	0.80722	D	1	P;P	0.46395	0.787;0.877	B;B	0.40940	0.344;0.326	T	0.02138	-1.1207	10	0.37606	T	0.19	-15.8967	15.336	0.74255	0.0:0.9338:0.0:0.0662	.	905;905	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	905	ENSP00000266070:E905K;ENSP00000378752:E905K;ENSP00000378749:E905K;ENSP00000378744:E905K	ENSP00000266070:E905K	E	-	1	0	DIDO1	60995851	0.925000	0.31364	0.008000	0.14137	0.001000	0.01503	2.596000	0.46205	1.630000	0.50440	0.655000	0.94253	GAG		PASS	0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		36	116	36	116	---	---	---	---
RCAN1	1827	broad.mit.edu	37	21	35893803	35893803	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr21:35893803C>A	ENST00000313806.4	-	3	710	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	RCAN1_ENST00000492600.1_Missense_Mutation_p.G139W|RCAN1_ENST00000443408.2_Missense_Mutation_p.G59W|RCAN1_ENST00000399272.1_Missense_Mutation_p.G113W|RCAN1_ENST00000482533.1_Missense_Mutation_p.G59W|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Missense_Mutation_p.G59W|RCAN1_ENST00000381132.2_Missense_Mutation_p.G139W|RCAN1_ENST00000381135.3_Missense_Mutation_p.G184W|RCAN1_ENST00000481448.1_Missense_Mutation_p.G184W	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	194					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G139W(1)|p.G194W(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCACCTGGCCCCAGCTTGGAG	0.612																																						uc002yue.2																			2	Substitution - Missense(2)		lung(2)		0						c.(580-582)GGG>TGG		calcipressin 1 isoform a							61.0	54.0	57.0					21																	35893803		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35893803C>A		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.580G>T	21.37:g.35893803C>A	ENSP00000320768:p.Gly194Trp					RCAN1_uc002yuc.2_Missense_Mutation_p.G113W|RCAN1_uc002yud.2_Missense_Mutation_p.G59W|RCAN1_uc002yub.2_Missense_Mutation_p.G139W|RCAN1_uc011adx.1_Missense_Mutation_p.G139W	p.G194W	NM_004414	NP_004405	P53805	RCAN1_HUMAN			3	652	-			194					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.580G>T	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708928	0.89018	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85527	0.1207	9	0.87932	D	0	-23.5261	18.8307	0.92137	0.0:1.0:0.0:0.0	.	139;194;113;139	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	W	59;194;139;113;184;59;184;59	.	ENSP00000320768:G194W	G	-	1	0	RCAN1	34815673	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.457000	0.80775	2.534000	0.85438	0.655000	0.94253	GGG		PASS	0.612	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			10	22	10	22	---	---	---	---
DGCR2	9993	broad.mit.edu	37	22	19055686	19055687	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:19055686_19055687CC>AA	ENST00000263196.7	-	3	501_502	c.254_255GG>TT	c.(253-255)cGG>cTT	p.R85L	DGCR2_ENST00000537045.1_Missense_Mutation_p.R44L|DGCR2_ENST00000545799.1_Missense_Mutation_p.R85L|DGCR2_ENST00000473832.1_5'Flank	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	85					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R85L(2)|p.R85R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCCGCCCCTGCCGCGGATCCAC	0.629																																						uc002zoq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)	1						c.(253-255)CGG>CGT|c.(253-255)CGG>CTG		integral membrane protein DGCR2 precursor																																				SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19055686C>A|g.chr22:19055687C>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.254_255delinsAA	22.37:g.19055686_19055687delinsAA	ENSP00000263196:p.Arg85Leu					DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Silent_p.R44R|DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R44L	p.R85R|p.R85L	NM_005137	NP_005128	P98153	IDD_HUMAN			3	503|502	-	Colorectal(54;0.0993)		85			Extracellular (Potential).		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent|Missense_Mutation	SNP	ENST00000263196.7	37	c.255G>T|c.254G>T	CCDS33598.1																																																																																				PASS	0.629	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		5|6	14|12	5	12	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20812204	20812204	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:20812204C>A	ENST00000328879.4	-	5	1352	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M	KLHL22_ENST00000440659.2_Missense_Mutation_p.R256M	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	399					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.R399M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTAGATGTACCTGCCTACAAC	0.612																																						uc002zsl.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1195-1197)AGG>ATG		kelch-like							120.0	79.0	93.0					22																	20812204		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20812204C>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1196G>T	22.37:g.20812204C>A	ENSP00000331682:p.Arg399Met					KLHL22_uc011ahr.1_Missense_Mutation_p.R256M|KLHL22_uc002zsm.1_Missense_Mutation_p.R399M	p.R399M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1305	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	399			Kelch 2.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1196G>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726990	0.48833	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.77877	-1.13;-1.13	4.17	-1.01	0.10169	Kelch-type beta propeller (1);	1.199920	0.05507	N	0.559550	T	0.73171	0.3553	L	0.47716	1.5	0.09310	N	1	B;P	0.40731	0.225;0.728	B;B	0.42282	0.252;0.382	T	0.64266	-0.6448	10	0.87932	D	0	.	8.0828	0.30754	0.0:0.3869:0.0:0.6131	.	256;399	B7Z2G1;Q53GT1	.;KLH22_HUMAN	M	399;256	ENSP00000331682:R399M;ENSP00000405521:R256M	ENSP00000331682:R399M	R	-	2	0	KLHL22	19142204	0.001000	0.12720	0.064000	0.19789	0.808000	0.45660	0.268000	0.18571	-0.018000	0.14079	0.462000	0.41574	AGG		PASS	0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		4	21	4	21	---	---	---	---
IGLV2-11	28816	broad.mit.edu	37	22	23135349	23135349	+	RNA	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:23135349G>T	ENST00000390314.2	+	0	253				D86998.1_ENST00000385098.1_RNA					immunoglobulin lambda variable 2-11																		CATGATTTATGATGTCAGTAA	0.552																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							282.0	264.0	270.0					22																	23135349		1923	4128	6051			96610							g.chr22:23135349G>T	Z73657		22q11.2	2012-02-08			ENSG00000211668	ENSG00000211668		"""Immunoglobulins / IGL locus"""	5887	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151236		22.37:g.23135349G>T														251		+									RNA	SNP	ENST00000390314.2	37	c.11991G>T																																																																																					PASS	0.552	IGLV2-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321841.1	NG_000002		29	427	29	427	---	---	---	---
SLC2A11	66035	broad.mit.edu	37	22	24225966	24225966	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:24225966T>C	ENST00000345044.6	+	9	1260	c.992T>C	c.(991-993)gTa>gCa	p.V331A	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Missense_Mutation_p.V334A|SLC2A11_ENST00000398356.2_Missense_Mutation_p.V338A			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	331					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.V338A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CAGTGTGTGGTAATCGAGAGG	0.612																																						uc002zyn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)GTA>GCA		glucose transporter protein 10 isoform c							355.0	220.0	266.0					22																	24225966		2203	4300	6503	SO:0001583	missense	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24225966T>C	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.992T>C	22.37:g.24225966T>C	ENSP00000342542:p.Val331Ala					SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.3_Missense_Mutation_p.V338A|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Intron|SLC2A11_uc002zyp.3_Missense_Mutation_p.V334A	p.V331A	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN			9	1091	+			331			Helical; Name=8; (Potential).		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	c.992T>C	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438045	0.25900	.	.	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	T;T;T	0.59502	0.26;0.26;0.26	4.17	-2.38	0.06622	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.087690	0.07005	N	0.824076	T	0.54822	0.1882	L	0.49778	1.585	0.09310	N	1	B;B;B	0.30146	0.0;0.27;0.242	B;B;B	0.39935	0.003;0.314;0.232	T	0.57717	-0.7763	10	0.59425	D	0.04	.	7.6235	0.28200	0.0:0.1106:0.1305:0.7589	.	334;331;338	Q9BYW1-3;Q9BYW1;E9PH55	.;GTR11_HUMAN;.	A	331;338;334	ENSP00000342542:V331A;ENSP00000381399:V338A;ENSP00000326748:V334A	ENSP00000326748:V334A	V	+	2	0	SLC2A11	22555966	0.981000	0.34729	0.000000	0.03702	0.000000	0.00434	2.449000	0.44935	-0.546000	0.06216	-0.947000	0.02670	GTA		PASS	0.612	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		6	72	6	72	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32588926	32588926	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:32588926C>A	ENST00000400237.1	-	4	1454	c.519G>T	c.(517-519)aaG>aaT	p.K173N	RFPL2_ENST00000248980.4_Missense_Mutation_p.K112N|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.K83N|RFPL2_ENST00000248983.4_Missense_Mutation_p.K83N			O75678	RFPL2_HUMAN	ret finger protein-like 2	173	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.K173N(1)|p.K112N(1)|p.K83N(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCTGCAGAATCTTCTTCAGCT	0.512																																						uc003amg.3																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(517-519)AAG>AAT		ret finger protein-like 2 isoform 2							123.0	124.0	124.0					22																	32588926		2203	4298	6501	SO:0001583	missense	10739						zinc ion binding	g.chr22:32588926C>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.519G>T	22.37:g.32588926C>A	ENSP00000383096:p.Lys173Asn					RFPL2_uc003ame.3_Missense_Mutation_p.K112N|RFPL2_uc003amf.3_Missense_Mutation_p.K83N|RFPL2_uc003amh.3_Missense_Mutation_p.K83N	p.K173N	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			4	1455	-			173			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.519G>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040698	0.08196	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	0.636	-1.27	0.09347	RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.15522	0.0374	L	0.36672	1.1	0.09310	N	1	B;B	0.30146	0.27;0.092	B;B	0.28465	0.09;0.03	T	0.25710	-1.0124	8	0.27785	T	0.31	.	.	.	.	.	173;112	O75678;O75678-3	RFPL2_HUMAN;.	N	112;83;83;173	ENSP00000248980:K112N;ENSP00000248983:K83N;ENSP00000383095:K83N;ENSP00000383096:K173N	ENSP00000248980:K112N	K	-	3	2	RFPL2	30918926	0.034000	0.19679	0.001000	0.08648	0.001000	0.01503	1.579000	0.36536	-0.494000	0.06669	-0.535000	0.04281	AAG		PASS	0.512	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		50	135	50	135	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35796559	35796559	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:35796559G>T	ENST00000216122.4	+	2	282	c.128G>T	c.(127-129)cGa>cTa	p.R43L	MCM5_ENST00000382011.5_Missense_Mutation_p.R43L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	43					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)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R43L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCAGTACCGAGTGGGCACC	0.672																																						uc003anu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)CGA>CTA		minichromosome maintenance complex component 5							26.0	30.0	28.0					22																	35796559		2203	4299	6502	SO:0001583	missense	4174				cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35796559G>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.128G>T	22.37:g.35796559G>T	ENSP00000216122:p.Arg43Leu					MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R43L	p.R43L	NM_006739	NP_006730	P33992	MCM5_HUMAN			2	222	+			43					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.128G>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762521	0.96906	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.11712	3.97;3.97;2.75	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);	0.072898	0.53938	N	0.000051	T	0.14013	0.0339	L	0.43152	1.355	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.34242	0.178;0.178	T	0.03374	-1.1043	10	0.66056	D	0.02	-6.1819	18.0627	0.89382	0.0:0.0:1.0:0.0	.	43;43	B1AHB1;P33992	.;MCM5_HUMAN	L	43	ENSP00000216122:R43L;ENSP00000371441:R43L;ENSP00000393977:R43L	ENSP00000216122:R43L	R	+	2	0	MCM5	34126559	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.365000	0.97139	2.342000	0.79632	0.455000	0.32223	CGA		PASS	0.672	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			10	20	10	20	---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35943063	35943063	+	Silent	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:35943063C>G	ENST00000216127.4	+	2	849	c.207C>G	c.(205-207)ctC>ctG	p.L69L		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	69					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L69L(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TGTACCAGCTCGACATCCTGG	0.617																																						uc003anx.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(205-207)CTC>CTG		RASD family, member 2 precursor							146.0	109.0	121.0					22																	35943063		2203	4300	6503	SO:0001819	synonymous_variant	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35943063C>G	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.207C>G	22.37:g.35943063C>G						RASD2_uc003any.2_Silent_p.L69L	p.L69L	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	412	+			69					O95520|Q5THY8	Silent	SNP	ENST00000216127.4	37	c.207C>G	CCDS13916.1																																																																																				PASS	0.617	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		31	32	31	32	---	---	---	---
APOL5	80831	broad.mit.edu	37	22	36122449	36122449	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:36122449G>C	ENST00000249044.2	+	3	334	c.334G>C	c.(334-336)Gag>Cag	p.E112Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	112					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.E112Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCACAAGTTTGAGCTAGAACA	0.458																																						uc003aof.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)GAG>CAG		apolipoprotein L5							77.0	74.0	75.0					22																	36122449		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122449G>C	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.334G>C	22.37:g.36122449G>C	ENSP00000249044:p.Glu112Gln						p.E112Q	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	334	+			112					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.334G>C	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322925	0.23994	.	.	ENSG00000128313	ENST00000249044	T	0.03831	3.79	2.8	-5.61	0.02489	.	0.608574	0.15103	N	0.280415	T	0.02649	0.0080	L	0.31752	0.955	0.09310	N	1	B	0.29909	0.261	B	0.23716	0.048	T	0.20706	-1.0267	10	0.46703	T	0.11	.	3.9017	0.09164	0.1331:0.2339:0.5166:0.1163	.	112	Q9BWW9	APOL5_HUMAN	Q	112	ENSP00000249044:E112Q	ENSP00000249044:E112Q	E	+	1	0	APOL5	34452395	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.558000	0.00923	-2.466000	0.00533	-0.886000	0.02939	GAG		PASS	0.458	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		6	66	6	66	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46835291	46835291	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:46835291C>G	ENST00000262738.3	-	3	4200	c.4201G>C	c.(4201-4203)Gat>Cat	p.D1401H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1401					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D1401H(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCATCCACCTCACAG	0.647																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4201-4203)GAT>CAT		cadherin EGF LAG seven-pass G-type receptor 1							37.0	30.0	32.0					22																	46835291		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835291C>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4201G>C	22.37:g.46835291C>G	ENSP00000262738:p.Asp1401His						p.D1401H	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4201	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1401			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4201G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196831	0.58126	.	.	ENSG00000075275	ENST00000262738	D	0.87491	-2.26	5.1	4.07	0.47477	.	0.305314	0.28895	U	0.013795	D	0.86548	0.5959	L	0.52573	1.65	0.80722	D	1	P	0.52692	0.955	P	0.50231	0.635	D	0.85586	0.1243	10	0.66056	D	0.02	.	9.7682	0.40574	0.0:0.0843:0.0:0.9157	.	1401	Q9NYQ6	CELR1_HUMAN	H	1401	ENSP00000262738:D1401H	ENSP00000262738:D1401H	D	-	1	0	CELSR1	45213955	1.000000	0.71417	0.734000	0.30879	0.665000	0.39181	2.023000	0.41040	0.812000	0.34326	-0.367000	0.07326	GAT		PASS	0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	16	6	16	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50728775	50728775	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:50728775G>A	ENST00000449103.1	-	3	379	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L			O15031	PLXB2_HUMAN	plexin B2	80	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P123L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGATGGGCGGCGTGCACTT	0.652																																						uc003bkv.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(238-240)CCG>CTG		plexin B2 precursor							37.0	45.0	42.0					22																	50728775		2091	4220	6311	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728775G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.239C>T	22.37:g.50728775G>A	ENSP00000409171:p.Pro80Leu						p.P80L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	345	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	80			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.239C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884455	0.72410	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.08	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.50627	D	0.000119	T	0.30039	0.0752	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30357	-0.9981	10	0.72032	D	0.01	.	16.4766	0.84134	0.0:0.0:1.0:0.0	.	80	O15031	PLXB2_HUMAN	L	80	ENSP00000409171:P80L;ENSP00000352288:P80L;ENSP00000392620:P80L;ENSP00000387470:P80L	ENSP00000352288:P80L	P	-	2	0	PLXNB2	49070902	1.000000	0.71417	0.427000	0.26684	0.500000	0.33767	9.108000	0.94275	2.110000	0.64415	0.561000	0.74099	CCG		PASS	0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		9	15	9	15	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	601814	601814	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:601814T>C	ENST00000554971.1	+	4	716	c.625T>C	c.(625-627)Ttc>Ctc	p.F209L	SHOX_ENST00000381575.1_Missense_Mutation_p.F209L|SHOX_ENST00000381578.1_Missense_Mutation_p.F209L|SHOX_ENST00000334060.3_Missense_Mutation_p.F209L			O15266	SHOX_HUMAN	short stature homeobox	209					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F209L(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGGATGCCTTTCCAACAGGT	0.567																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TTC>CTC		short stature homeobox isoform SHOXa							292.0	240.0	258.0					X																	601814		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601814T>C	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.625T>C	X.37:g.601814T>C	ENSP00000452016:p.Phe209Leu					SHOX_uc004cpi.2_Missense_Mutation_p.F209L	p.F209L	NM_000451	NP_000442	O15266	SHOX_HUMAN			5	1316	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	209					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.625T>C	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.299185	0.40694	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94417	-3.42;-3.24;-3.24;-3.42	1.53	1.53	0.23141	.	0.000000	0.85682	U	0.000000	D	0.89942	0.6861	L	0.46157	1.445	0.09310	N	1	B;B	0.26363	0.147;0.003	B;B	0.28553	0.091;0.005	T	0.78986	-0.1987	10	0.25106	T	0.35	.	9.0431	0.36329	0.0:0.0:0.0:1.0	.	209;209	O15266-2;O15266	.;SHOX_HUMAN	L	209	ENSP00000335505:F209L;ENSP00000370990:F209L;ENSP00000452016:F209L;ENSP00000370987:F209L	ENSP00000335505:F209L	F	+	1	0	SHOX	521814	1.000000	0.71417	0.962000	0.40283	0.268000	0.26511	5.865000	0.69583	0.676000	0.31285	0.097000	0.15509	TTC		PASS	0.567	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		24	18	24	18	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1428351	1428351	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:1428351G>C	ENST00000381524.3	+	13	1368	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.L394F|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.L394F|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D335H|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.L261F|CSF2RA_ENST00000417535.2_Missense_Mutation_p.L428F|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	394					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.D335H(1)|p.L394F(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGAGGTCTTGACCGTGAAGG	0.527																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1180-1182)TTG>TTC		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						228.0	212.0	218.0					X																	1428351		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428351G>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1182G>C	X.37:g.1428351G>C	ENSP00000370935:p.Leu394Phe					CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.L394F|CSF2RA_uc004cpo.2_Missense_Mutation_p.L394F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.L261F|CSF2RA_uc004cpp.2_Missense_Mutation_p.D335H|CSF2RA_uc010ncv.2_Missense_Mutation_p.L428F|CSF2RA_uc004cpr.2_3'UTR	p.L394F	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			14	1504	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	394			Cytoplasmic (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.1182G>C	CCDS35191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.676|9.676	1.147953|1.147953	0.21288|0.21288	.|.	.|.	ENSG00000198223|ENSG00000198223	ENST00000355432|ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000417535	T|D;D;D;D;D	0.48201|0.94184	0.82|-3.08;-3.08;-3.37;-3.08;-2.97	0.69|0.69	-1.38|-1.38	0.09027|0.09027	.|.	.|.	.|.	.|.	.|.	D|D	0.92688|0.92688	0.7676|0.7676	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D;P	0.58268|0.59357	0.982|0.985;0.956	P|P;P	0.47786|0.55055	0.557|0.767;0.767	D|D	0.84571|0.84571	0.0655|0.0655	7|7	0.66056|0.49607	D|T	0.02|0.09	.|.	.|.	.|.	.|.	.|.	336|428;394	P15509-5|A7J003;P15509	.|.;CSF2R_HUMAN	H|F	335|394;394;261;394;428	ENSP00000347606:D335H|ENSP00000370940:L394F;ENSP00000416437:L394F;ENSP00000440491:L261F;ENSP00000370935:L394F;ENSP00000394227:L428F	ENSP00000347606:D335H|ENSP00000370935:L394F	D|L	+|+	1|3	0|2	CSF2RA|CSF2RA	1388351|1388351	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.088000|0.088000	0.18126|0.18126	-1.598000|-1.598000	0.02087|0.02087	-0.848000|-0.848000	0.04163|0.04163	0.110000|0.110000	0.15639|0.15639	GAC|TTG		PASS	0.527	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			6	133	6	133	---	---	---	---
ASMT	438	broad.mit.edu	37	X	1743268	1743268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:1743268G>A	ENST00000381229.4	+	3	387	c.351G>A	c.(349-351)tgG>tgA	p.W117*	ASMT_ENST00000381233.3_Nonsense_Mutation_p.W117*|ASMT_ENST00000381241.3_Nonsense_Mutation_p.W117*			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	117					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.W117*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	ACCGGTGCTGGGGCCACCTGG	0.662																																						uc004cqd.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(349-351)TGG>TGA		acetylserotonin O-methyltransferase							98.0	89.0	92.0					X																	1743268		2203	4296	6499	SO:0001587	stop_gained	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743268G>A	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.351G>A	X.37:g.1743268G>A	ENSP00000370627:p.Trp117*					ASMT_uc010ncy.2_Nonsense_Mutation_p.W117*|ASMT_uc004cqe.2_Nonsense_Mutation_p.W117*	p.W117*	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	496	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	117					B2RC33|Q16598|Q5JQ72|Q5JQ73	Nonsense_Mutation	SNP	ENST00000381229.4	37	c.351G>A		.	.	.	.	.	.	.	.	.	.	g	15.40	2.821057	0.50633	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	.	.	.	1.77	1.77	0.24775	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6448	0.45613	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000370627:W117X	W	+	3	0	ASMT	1703268	1.000000	0.71417	0.152000	0.22495	0.109000	0.19521	3.981000	0.56902	0.653000	0.30826	0.415000	0.27848	TGG		PASS	0.662	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		9	80	9	80	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269565	30269565	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:30269565T>A	ENST00000378981.3	+	4	1276	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	MAGEB1_ENST00000397550.1_Missense_Mutation_p.S319T|MAGEB1_ENST00000397548.2_Missense_Mutation_p.S319T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	319								p.S319T(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCAAGTCCGATCCAGTGTTAG	0.547																																						uc004dcc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)TCC>ACC		melanoma antigen family B, 1							99.0	85.0	90.0					X																	30269565		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269565T>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.955T>A	X.37:g.30269565T>A	ENSP00000368264:p.Ser319Thr					MAGEB1_uc004dcd.2_Missense_Mutation_p.S319T|MAGEB1_uc004dce.2_Missense_Mutation_p.S319T	p.S319T	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1275	+			319					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.955T>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	3.511	-0.099845	0.07010	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01538	4.79;4.79;4.79	0.235	0.235	0.15431	.	0.490266	0.19977	N	0.101846	T	0.01489	0.0048	N	0.20685	0.6	0.09310	N	1	P	0.43392	0.805	P	0.45506	0.483	T	0.51980	-0.8636	9	0.16896	T	0.51	.	.	.	.	.	319	P43366	MAGB1_HUMAN	T	319	ENSP00000368264:S319T;ENSP00000380683:S319T;ENSP00000380681:S319T	ENSP00000368264:S319T	S	+	1	0	MAGEB1	30179486	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.478000	0.22212	0.245000	0.21373	0.242000	0.17961	TCC		PASS	0.547	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		34	13	34	13	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35969926	35969926	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:35969926G>C	ENST00000297866.5	+	6	958	c.892G>C	c.(892-894)Gat>Cat	p.D298H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	298								p.D298H(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGGTACAGATATTCAACA	0.269																																						uc004ddj.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(892-894)GAT>CAT		hypothetical protein LOC170063							30.0	30.0	30.0					X																	35969926		2180	4228	6408	SO:0001583	missense	170063							g.chrX:35969926G>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.892G>C	X.37:g.35969926G>C	ENSP00000297866:p.Asp298His					CXorf22_uc010ngv.2_RNA	p.D298H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			6	951	+			298					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.892G>C	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515568	0.27123	.	.	ENSG00000165164	ENST00000297866	T	0.17213	2.29	5.76	3.27	0.37495	.	0.101802	0.64402	D	0.000003	T	0.26484	0.0647	L	0.46157	1.445	0.28497	N	0.914174	D	0.76494	0.999	D	0.66497	0.944	T	0.04255	-1.0965	10	0.40728	T	0.16	-25.6398	5.5965	0.17329	0.6232:0.0:0.3768:0.0	.	298	Q6ZTR5	CX022_HUMAN	H	298	ENSP00000297866:D298H	ENSP00000297866:D298H	D	+	1	0	CXorf22	35879847	0.981000	0.34729	0.939000	0.37840	0.059000	0.15707	1.356000	0.34079	0.789000	0.33779	-0.505000	0.04504	GAT		PASS	0.269	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		9	5	9	5	---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48564683	48564683	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:48564683C>T	ENST00000376687.3	+	4	1046	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Silent_p.G133G|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R297W|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	286	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R286W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCAGAGCGGCGGGGCCAGAT	0.592																																						uc004dkn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CGG>TGG		suppressor of variegation 3-9 homolog 1							61.0	56.0	58.0					X																	48564683		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564683C>T	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.856C>T	X.37:g.48564683C>T	ENSP00000365877:p.Arg286Trp					SUV39H1_uc011mmf.1_Missense_Mutation_p.R297W|SUV39H1_uc011mmg.1_RNA	p.R286W	NM_003173	NP_003164	O43463	SUV91_HUMAN			4	901	+			286			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.856C>T	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548390	0.45383	.	.	ENSG00000101945	ENST00000337852;ENST00000376687	D;D	0.92545	-3.06;-3.06	4.39	1.36	0.22044	SET domain (3);	0.000000	0.64402	D	0.000002	D	0.97726	0.9254	H	0.99811	4.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95916	0.8927	10	0.66056	D	0.02	.	10.7735	0.46336	0.6803:0.3197:0.0:0.0	.	297;286	B4DST0;O43463	.;SUV91_HUMAN	W	297;286	ENSP00000337976:R297W;ENSP00000365877:R286W	ENSP00000337976:R297W	R	+	1	2	SUV39H1	48449627	0.997000	0.39634	0.978000	0.43139	0.449000	0.32228	1.271000	0.33098	-0.036000	0.13669	0.287000	0.19450	CGG		PASS	0.592	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		5	21	5	21	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963358	73963358	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:73963358C>A	ENST00000055682.6	-	3	1645	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	345					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.C345F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCGCTTGGGGCAGGTAGTAAA	0.463																																						uc004eby.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1033-1035)TGC>TTC		hypothetical protein LOC340533							57.0	51.0	53.0					X																	73963358		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963358C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1034G>T	X.37:g.73963358C>A	ENSP00000055682:p.Cys345Phe						p.C345F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1651	-			345					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1034G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196231	0.58126	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.71698	-0.59;-0.59	5.93	5.93	0.95920	.	0.047117	0.85682	D	0.000000	D	0.83977	0.5371	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84963	0.0878	10	0.87932	D	0	-6.769	19.2973	0.94128	0.0:1.0:0.0:0.0	.	345	Q5QGS0	K2022_HUMAN	F	345	ENSP00000362567:C345F;ENSP00000055682:C345F	ENSP00000055682:C345F	C	-	2	0	KIAA2022	73880083	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.510000	0.84645	0.600000	0.82982	TGC		PASS	0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		27	7	27	7	---	---	---	---
PBDC1	51260	broad.mit.edu	37	X	75397617	75397617	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:75397617G>C	ENST00000373358.3	+	6	779	c.576G>C	c.(574-576)gaG>gaC	p.E192D	PBDC1_ENST00000373357.3_Missense_Mutation_p.R155T	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	192								p.E192D(1)									atggaggagagaaaggagctg	0.413																																						uc004ecl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GAG>GAC		hypothetical protein LOC51260							110.0	101.0	104.0					X																	75397617		2203	4298	6501	SO:0001583	missense	51260							g.chrX:75397617G>C	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.576G>C	X.37:g.75397617G>C	ENSP00000362456:p.Glu192Asp						p.E192D	NM_016500	NP_057584	Q9BVG4	CX026_HUMAN			6	779	+			192						Missense_Mutation	SNP	ENST00000373358.3	37	c.576G>C	CCDS14432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.859163|2.859163	0.51376|0.51376	.|.	.|.	ENSG00000102390|ENSG00000102390	ENST00000373358|ENST00000373357	.|.	.|.	.|.	3.98|3.98	-0.119|-0.119	0.13543|0.13543	.|.	2.693880|.	0.02075|.	N|.	0.051866|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.29378|.	0.243|.	B|.	0.24541|.	0.054|.	T|T	0.23013|0.23013	-1.0200|-1.0200	9|6	0.46703|0.54805	T|T	0.11|0.06	.|.	3.4706|3.4706	0.07566|0.07566	0.3929:0.1972:0.4099:0.0|0.3929:0.1972:0.4099:0.0	.|.	192|.	Q9BVG4|.	CX026_HUMAN|.	D|T	192|155	.|.	ENSP00000362456:E192D|ENSP00000362455:R155T	E|R	+|+	3|2	2|0	CXorf26|CXorf26	75314020|75314020	0.179000|0.179000	0.23135|0.23135	0.000000|0.000000	0.03702|0.03702	0.416000|0.416000	0.31233|0.31233	0.173000|0.173000	0.16724|0.16724	-0.156000|-0.156000	0.11079|0.11079	0.597000|0.597000	0.82753|0.82753	GAG|AGA		PASS	0.413	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		14	5	14	5	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110574147	110574147	+	Splice_Site	SNP	C	C	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:110574147C>T	ENST00000338081.3	-	5	1345	c.1174G>A	c.(1174-1176)Gca>Aca	p.A392T	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.G311S|DCX_ENST00000371993.2_Splice_Site_p.A311T|DCX_ENST00000488120.1_Splice_Site_p.A311T|DCX_ENST00000356915.2_Missense_Mutation_p.G311S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	392	Pro/Ser-rich.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.G311S(1)|p.A392T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGGTCGTTACCTGAGTCAGCT	0.527																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(1174-1176)GCA>ACA		doublecortin isoform a							317.0	253.0	275.0					X																	110574147		2203	4300	6503	SO:0001630	splice_region_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110574147C>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1174+1G>A	X.37:g.110574147C>T						DCX_uc011msv.1_Missense_Mutation_p.G392S|DCX_uc004epe.2_Missense_Mutation_p.A311T|DCX_uc004epf.2_Missense_Mutation_p.G311S|DCX_uc004epg.2_Missense_Mutation_p.A311T	p.A392T	NM_000555	NP_000546	O43602	DCX_HUMAN			5	1346	-			392			Pro/Ser-rich.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.1174G>A	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.217194|2.217194	0.39201|0.39201	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000371993;ENST00000338081;ENST00000488120|ENST00000356915;ENST00000356220	T;T;T|T;T	0.24723|0.21191	1.88;1.84;1.88|2.02;2.02	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.328242	.|0.27664	.|N	.|0.018367	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999995|0.999995	B|B	0.24426|0.11235	0.103|0.004	B|B	0.18871|0.11329	0.023|0.006	T|T	0.12837|0.12837	-1.0532|-1.0532	9|10	0.13108|0.02654	T|T	0.6|1	.|.	18.2138|18.2138	0.89879|0.89879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392|380	O43602|B4DM53	DCX_HUMAN|.	T|S	311;392;311|311	ENSP00000361061:A311T;ENSP00000337697:A392T;ENSP00000419861:A311T|ENSP00000349385:G311S;ENSP00000348553:G311S	ENSP00000337697:A392T|ENSP00000348553:G311S	A|G	-|-	1|1	0|0	DCX|DCX	110460803|110460803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.825000|4.825000	0.62708|0.62708	2.238000|2.238000	0.73509|0.73509	0.594000|0.594000	0.82650|0.82650	GCA|GGT		PASS	0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	Missense_Mutation	75	30	75	30	---	---	---	---
CT83	203413	broad.mit.edu	37	X	115593069	115593069	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:115593069C>A	ENST00000371894.4	-	2	327	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		61						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D61Y(1)		breast(1)|large_intestine(3)|lung(8)	12						CGAGAGAGGTCGTAGACTGCA	0.418																																						uc004eqj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GAC>TAC		chromosome X open reading frame 61							154.0	135.0	141.0					X																	115593069		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115593069C>A																												ENST00000371894.4:c.181G>T	X.37:g.115593069C>A	ENSP00000360961:p.Asp61Tyr						p.D61Y	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			2	301	-			61			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000371894.4	37	c.181G>T	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959986	0.34565	.	.	ENSG00000204019	ENST00000371894	.	.	.	4.81	-1.09	0.09904	.	1.254690	0.05657	N	0.586141	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.34138	0.176	T	0.15780	-1.0425	9	0.52906	T	0.07	2.9377	0.5463	0.00654	0.1726:0.2002:0.1752:0.452	.	61	Q5H943	KKLC1_HUMAN	Y	61	.	ENSP00000360961:D61Y	D	-	1	0	CXorf61	115507097	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.345000	0.07770	-0.384000	0.07845	-1.126000	0.01995	GAC		PASS	0.418	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			26	8	26	8	---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119064021	119064021	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chrX:119064021A>C	ENST00000371410.3	-	8	1197	c.1031T>G	c.(1030-1032)aTt>aGt	p.I344S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	344	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.I344S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAATGATGCAATTTCTTCACT	0.393																																						uc004esh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1030-1032)ATT>AGT		NFKB activating protein							180.0	155.0	164.0					X																	119064021		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119064021A>C	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1031T>G	X.37:g.119064021A>C	ENSP00000360464:p.Ile344Ser					NKAP_uc004esg.2_Missense_Mutation_p.I231S	p.I344S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			8	1198	-			344			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.1031T>G	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015178	0.75161	.	.	ENSG00000101882	ENST00000371410	T	0.45276	0.9	5.29	4.12	0.48240	.	0.049397	0.85682	D	0.000000	T	0.68705	0.3030	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.72956	-0.4134	10	0.87932	D	0	-2.9664	9.4315	0.38612	0.9166:0.0:0.0834:0.0	.	344	Q8N5F7	NKAP_HUMAN	S	344	ENSP00000360464:I344S	ENSP00000360464:I344S	I	-	2	0	NKAP	118948049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.076000	0.94009	0.835000	0.34877	0.430000	0.28490	ATT		PASS	0.393	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		13	42	13	42	---	---	---	---
LINC00869	57234	broad.mit.edu	37	1	149285546	149285547	+	lincRNA	INS	-	-	A	rs144216017|rs386368278|rs386368277|rs386368276		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:149285546_149285547insA	ENST00000433084.1	+	0	0				RNU1-143P_ENST00000516296.1_RNA|RP11-403I13.7_ENST00000424684.1_lincRNA																							ttctgtctctcaaaaaaaaTGC	0.525																																						uc010pbf.1																			0					0								Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851.																																						388692							g.chr1:149285546_149285547insA																													1.37:g.149285554_149285554dupA						LOC388692_uc001esg.3_5'Flank		NR_027002						1		+									RNA	INS	ENST00000433084.1	37	c.6071_6072insA																																																																																						0.525	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			8	4	8	4	---	---	---	---
RP11-403I13.8	0	broad.mit.edu	37	1	149287128	149287129	+	lincRNA	DEL	CT	CT	-			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:149287128_149287129delCT	ENST00000433084.1	+	0	0				RNU1-143P_ENST00000516296.1_RNA|RP11-403I13.7_ENST00000424684.1_lincRNA																							GGGGACTGGCCTCTCTGCACGG	0.594																																						uc010pbf.1																			0					0								Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851.																																						388692							g.chr1:149287128_149287129delCT																													1.37:g.149287132_149287133delCT						LOC388692_uc001esg.3_5'Flank		NR_027002						1		+									RNA	DEL	ENST00000433084.1	37	c.7653_7654delCT																																																																																						0.594	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			4	4	4	4	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158619725	158619725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr1:158619725delG	ENST00000368147.4	-	25	3670	c.3490delC	c.(3490-3492)cgcfs	p.R1164fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1164					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1164C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACCCCAGCGGGAATTCAAT	0.443																																						uc001fst.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3490-3492)CGCfs		spectrin, alpha, erythrocytic 1																																				SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158619725delG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3490delC	1.37:g.158619725delG	ENSP00000357129:p.Arg1164fs						p.R1164fs	NM_003126	NP_003117	P02549	SPTA1_HUMAN			25	3689	-	all_hematologic(112;0.0378)		1164			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	37	c.3490delC	CCDS41423.1																																																																																					0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		23	10	23	10	---	---	---	---
EHHADH-AS1	339926	broad.mit.edu	37	3	184900714	184900714	+	RNA	DEL	A	A	-			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr3:184900714delA	ENST00000417720.1	+	0	1133				EHHADH-AS1_ENST00000444571.1_RNA	NR_038990.1				EHHADH antisense RNA 1																		actttggaacaaaaggacaaa	0.423																																						uc003fpe.2																			0													Homo sapiens hypothetical LOC339926, mRNA (cDNA clone IMAGE:4838153).																																						0							g.chr3:184900714delA	BC047598		3q27.2	2012-10-12	2012-08-15		ENSG00000223358	ENSG00000223358		"""Long non-coding RNAs"""	44133	non-coding RNA	RNA, long non-coding			"""EHHADH antisense RNA 1 (non-protein coding)"""				Standard	NR_038990		Approved		uc003fpe.3		OTTHUMG00000156697		3.37:g.184900714delA														6		+									RNA	DEL	ENST00000417720.1	37	c.1133delA																																																																																						0.423	EHHADH-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000345324.1	NR_038990		4	2	4	2	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20795082	20795082	+	Frame_Shift_Del	DEL	G	G	-	rs61999295	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr7:20795082delG	ENST00000404938.2	+	28	4261	c.3609delG	c.(3607-3609)acgfs	p.T1203fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.T758fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1203	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCCAGGACGGGAAGGACAT	0.448																																						uc003suw.3																			0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(2272-2274)ACGfs		ATP-binding cassette, sub-family B, member 5							102.0	94.0	96.0					7																	20795082		2203	4300	6503	SO:0001589	frameshift_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20795082delG	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3609delG	7.37:g.20795082delG	ENSP00000384881:p.Thr1203fs					ABCB5_uc010kuh.2_Frame_Shift_Del_p.T1203fs	p.T758fs	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			19	2820	+			758			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	c.2274delG	CCDS55090.1																																																																																					0.448	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		25	13	25	13	---	---	---	---
LOC100996643	100996643	broad.mit.edu	37	9	67289313	67289314	+	RNA	INS	-	-	T	rs370181906		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr9:67289313_67289314insT	ENST00000432011.2	+	0	0																											AGCTATCCCTGTGTCCCCAGTC	0.614																																						uc004aen.1																			0					0								Homo sapiens cDNA FLJ46364 fis, clone TESTI4051015.																																						375719							g.chr9:67289313_67289314insT																													9.37:g.67289314_67289314dupT						AQP7P1_uc004aeo.1_RNA|AQP7P1_uc004aep.1_RNA								1		-									RNA	INS	ENST00000432011.2	37	c.179_180insA																																																																																						0.614	RP11-236F9.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000143981.2			5	3	5	3	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52520416	52520416	+	Frame_Shift_Del	DEL	G	G	-	rs376813870		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:52520416delG	ENST00000216286.5	-	5	1309	c.1310delC	c.(1309-1311)ccafs	p.P437fs	NID2_ENST00000541773.1_Frame_Shift_Del_p.P384fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	437					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGATGAGCTGGGGGAACATC	0.547																																						uc001wzo.2																			0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1309-1311)CCAfs		nidogen 2 precursor							90.0	89.0	89.0					14																	52520416		2203	4300	6503	SO:0001589	frameshift_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520416delG	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1310delC	14.37:g.52520416delG	ENSP00000216286:p.Pro437fs					NID2_uc010tqs.1_Frame_Shift_Del_p.P437fs|NID2_uc010tqt.1_Frame_Shift_Del_p.P437fs|NID2_uc001wzp.2_Frame_Shift_Del_p.P437fs	p.P437fs	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1544	-	Breast(41;0.0639)|all_epithelial(31;0.123)		437					A8K6I7|B4DU19|O43710	Frame_Shift_Del	DEL	ENST00000216286.5	37	c.1310delC	CCDS9706.1																																																																																					0.547	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			46	26	46	26	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88892994	88892995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr14:88892994_88892995insA	ENST00000393545.4	+	6	1080_1081	c.791_792insA	c.(790-795)agaaaafs	p.RK264fs	SPATA7_ENST00000356583.5_Frame_Shift_Ins_p.RK232fs|SPATA7_ENST00000045347.7_Frame_Shift_Ins_p.RK264fs|SPATA7_ENST00000556553.1_Frame_Shift_Ins_p.RK232fs	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	264					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCTGCCAAAAGAAAAAAGGATT	0.366																																						uc001xwq.2																			0				ovary(1)	1						c.(790-792)AGAfs		spermatogenesis-associated protein 7 isoform a																																				SO:0001589	frameshift_variant	55812				response to stimulus|visual perception			g.chr14:88892994_88892995insA	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.797dupA	14.37:g.88893000_88893000dupA	ENSP00000377176:p.Arg264fs					SPATA7_uc001xwr.2_Frame_Shift_Ins_p.R232fs|SPATA7_uc001xws.2_Frame_Shift_Ins_p.R200fs|SPATA7_uc001xwt.2_Frame_Shift_Ins_p.R158fs|SPATA7_uc001xwu.2_5'Flank	p.R264fs	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			6	942_943	+			264					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Frame_Shift_Ins	INS	ENST00000393545.4	37	c.791_792insA	CCDS9883.1																																																																																					0.366	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			34	19	34	19	---	---	---	---
INAFM2	100505573	broad.mit.edu	37	15	40617717	40617717	+	RNA	DEL	T	T	-	rs3214686		TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:40617717delT	ENST00000560415.1	+	0	273																											TGTTTTTATCTTTTTTTTTTT	0.448																																						uc001zlf.1																			0													Homo sapiens cDNA FLJ41776 fis, clone IMR322013053.																																						0							g.chr15:40617717delT																													15.37:g.40617717delT														1		+									RNA	DEL	ENST00000560415.1	37	c.1037delT																																																																																						0.448	LINC00984-001	KNOWN	basic	antisense	antisense	OTTHUMT00000418443.1			5	4	5	4	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91010776	91010776	+	Frame_Shift_Del	DEL	T	T	-	rs1505936	byFrequency	TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr15:91010776delT	ENST00000268182.5	+	18	2254	c.2130delT	c.(2128-2130)cctfs	p.P711fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.P139fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	711	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGGatgaacctccaaattttg	0.438																																						uc002bpl.1																			0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(2128-2130)CCTfs		IQ motif containing GTPase activating protein 1							83.0	90.0	88.0					15																	91010776		2198	4298	6496	SO:0001589	frameshift_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91010776delT	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2130delT	15.37:g.91010776delT	ENSP00000268182:p.Pro711fs						p.P710fs	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		18	2231	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		710			WW.		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	c.2130delT	CCDS10362.1																																																																																					0.438	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		49	52	49	52	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64738846	64738847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr17:64738846_64738847insC	ENST00000413366.3	+	13	1518_1519	c.1492_1493insC	c.(1492-1494)ttcfs	p.F498fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GACCAGGACCTTCTGTGGGACT	0.475																																						uc002jfp.1																			0				central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(1492-1494)TTCfs		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64738846_64738847insC		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		Exception_encountered	17.37:g.64738846_64738847insC	ENSP00000408695:p.Phe498fs					PRKCA_uc002jfo.1_Frame_Shift_Ins_p.F369fs	p.F498fs	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		13	1536_1537	+			498			Protein kinase.		B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Ins	INS	ENST00000413366.3	37	c.1492_1493insC	CCDS11664.1																																																																																					0.475	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			22	39	22	39	---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4704256	4704257	+	Frame_Shift_Ins	INS	-	-	C			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr19:4704256_4704257insC	ENST00000598800.1	-	7	904_905	c.399_400insG	c.(397-402)cgcctgfs	p.L134fs	DPP9_ENST00000597849.1_Frame_Shift_Ins_p.L163fs|DPP9_ENST00000594671.1_Frame_Shift_Ins_p.L134fs|DPP9_ENST00000262960.9_Frame_Shift_Ins_p.L163fs			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	134						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AAGACCCCCAGGCGTTTCCGCT	0.644																																						uc002mba.2																			0				skin(1)	1						c.(484-489)CGCCTGfs		dipeptidylpeptidase 9																																				SO:0001589	frameshift_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704256_4704257insC	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.399_400insG	19.37:g.4704256_4704257insC	ENSP00000469603:p.Leu134fs					DPP9_uc002mbb.2_Frame_Shift_Ins_p.R162fs|DPP9_uc002mbc.2_Frame_Shift_Ins_p.R162fs	p.R162fs	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	744_745	-		Hepatocellular(1079;0.137)	133_134					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Frame_Shift_Ins	INS	ENST00000598800.1	37	c.486_487insG																																																																																						0.644	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			37	22	37	22	---	---	---	---
Unknown	0	broad.mit.edu	37	22	20292917	20292918	+	IGR	INS	-	-	T			TCGA-18-3414-01A-01D-0983-08	TCGA-18-3414-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	239deee9-2791-4163-b777-fdf8c49c9e33	dc33f835-cd00-493e-98a9-48aa6b4ef73f	g.chr22:20292917_20292918insT								RTN4R (33647 upstream) : DGCR6L (8880 downstream)																							ctggctgtggcttgggcttttt	0.619																																						uc002zrw.1																			0													Homo sapiens mRNA for KIAA1653 protein, partial cds.																																				SO:0001628	intergenic_variant	0							g.chr22:20292917_20292918insT																													22.37:g.20292919_20292919dupT														1		+									RNA	INS		37	c.1357_1358insT																																																																																				0		0.619									5	3	5	3	---	---	---	---
