#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
CHD5	26038	broad.mit.edu	37	1	6196587	6196587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:6196587C>A	ENST00000262450.3	-	17	2785	c.2686G>T	c.(2686-2688)Gag>Tag	p.E896*	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E896*(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGAACCTCTCTGGAGTCAGG	0.552																																						uc001amb.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2686-2688)GAG>TAG		chromodomain helicase DNA binding protein 5							93.0	100.0	97.0					1																	6196587		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6196587C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2686G>T	1.37:g.6196587C>A	ENSP00000262450:p.Glu896*					CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.E896*	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	17	2786	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	896			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.2686G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	36	5.698993	0.96802	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.67	4.67	0.58626	.	0.070437	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-42.7308	17.9283	0.88990	0.0:1.0:0.0:0.0	.	.	.	.	X	896;412;304;304	.	ENSP00000262450:E896X	E	-	1	0	CHD5	6119174	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.942000	0.70203	2.293000	0.77203	0.462000	0.41574	GAG		PASS	0.552	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		22	69	22	69	---	---	---	---
NOL9	79707	broad.mit.edu	37	1	6592774	6592774	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:6592774G>T	ENST00000377705.5	-	8	1316	c.1284C>A	c.(1282-1284)ccC>ccA	p.P428P		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	428					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.P428P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGTGGCTGGGAGACAGCA	0.502																																						uc001ans.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1282-1284)CCC>CCA		nucleolar protein 9							103.0	92.0	95.0					1																	6592774		2203	4300	6503	SO:0001819	synonymous_variant	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592774G>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1284C>A	1.37:g.6592774G>T						NOL9_uc010nzs.1_RNA	p.P428P	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	8	1303	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	428					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	c.1284C>A	CCDS80.1																																																																																				PASS	0.502	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		17	32	17	32	---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6648820	6648820	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:6648820G>T	ENST00000377674.4	+	10	1844	c.1686G>T	c.(1684-1686)gtG>gtT	p.V562V		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	562					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V562V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCAGCCGTGGAGCAACTGC	0.632																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1684-1686)GTG>GTT		zinc finger and BTB domain containing 48							70.0	71.0	71.0					1																	6648820		2203	4300	6503	SO:0001819	synonymous_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648820G>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1686G>T	1.37:g.6648820G>T						ZBTB48_uc001anx.2_Silent_p.V562V|ZBTB48_uc009vmd.1_Silent_p.V562V|ZBTB48_uc001any.1_Silent_p.V200V	p.V562V	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	10	1809	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	562			C2H2-type 10.		Q5SY19	Silent	SNP	ENST00000377674.4	37	c.1686G>T	CCDS84.1																																																																																				PASS	0.632	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		12	21	12	21	---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8390781	8390781	+	Missense_Mutation	SNP	G	G	A	rs139151699		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:8390781G>A	ENST00000471889.1	+	5	1613	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	SLC45A1_ENST00000289877.8_Missense_Mutation_p.G410S|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.G444S|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	410					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G410S(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCCCGACGGCTTCTACCG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13388	0.0		0.001	False		,,,				2504	0.0					uc001apb.2																			2	Substitution - Missense(2)		lung(1)|pancreas(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1228-1230)GGC>AGC		DNB5		G	SER/GLY	1,4403		0,1,2201	25.0	28.0	27.0		1228	-0.5	0.6	1	dbSNP_134	27	3,8597		0,3,4297	yes	missense	SLC45A1	NM_001080397.1	56	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	benign	410/749	8390781	4,13000	2202	4300	6502	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390781G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1228G>A	1.37:g.8390781G>A	ENSP00000418096:p.Gly410Ser					SLC45A1_uc001apc.2_Missense_Mutation_p.G108S	p.G410S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1228	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	410					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1228G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	7.683	0.689430	0.14973	2.27E-4	3.49E-4	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19669	2.16;2.13;2.16	4.66	-0.511	0.11970	.	0.960412	0.08711	N	0.904905	T	0.13457	0.0326	L	0.27053	0.805	0.38895	D	0.957199	B	0.14438	0.01	B	0.08055	0.003	T	0.17806	-1.0357	10	0.24483	T	0.36	-19.2779	8.4715	0.32988	0.5143:0.0:0.4857:0.0	.	410	Q9Y2W3	S45A1_HUMAN	S	410;444;410	ENSP00000418096:G410S;ENSP00000366699:G444S;ENSP00000289877:G410S	ENSP00000289877:G410S	G	+	1	0	SLC45A1	8313368	0.196000	0.23350	0.639000	0.29394	0.080000	0.17528	0.540000	0.23191	-0.153000	0.11137	-0.258000	0.10820	GGC		PASS	0.682	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			11	26	11	26	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9791886	9791886	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:9791886C>A	ENST00000377298.4	-	17	3288	c.2496G>T	c.(2494-2496)gtG>gtT	p.V832V	CLSTN1_ENST00000377288.3_Silent_p.V813V|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.V822V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	832					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.V832V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCGGGTGCACGAACTGTG	0.592																																						uc001aqh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2494-2496)GTG>GTT		calsyntenin 1 isoform 1							153.0	129.0	137.0					1																	9791886		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9791886C>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2496G>T	1.37:g.9791886C>A						CLSTN1_uc001aqi.2_Silent_p.V822V|CLSTN1_uc010oag.1_Silent_p.V813V|CLSTN1_uc001aqf.2_Silent_p.V68V	p.V832V	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	17	3255	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	832			Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.2496G>T	CCDS30580.1																																																																																				PASS	0.592	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			4	20	4	20	---	---	---	---
DRAXIN	374946	broad.mit.edu	37	1	11766571	11766571	+	Missense_Mutation	SNP	C	C	A	rs41275444	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:11766571C>A	ENST00000294485.5	+	2	391	c.256C>A	c.(256-258)Cag>Aag	p.Q86K		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein									p.Q86K(1)									CGCCACCAGGCAGGCCTCCAG	0.711																																						uc001asr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)CAG>AAG		chromosome 1 open reading frame 187 precursor							10.0	13.0	12.0					1																	11766571		2186	4288	6474	SO:0001583	missense	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11766571C>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.256C>A	1.37:g.11766571C>A	ENSP00000294485:p.Gln86Lys						p.Q86K	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	2	396	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	86						Missense_Mutation	SNP	ENST00000294485.5	37	c.256C>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	2.732	-0.264095	0.05754	.	.	ENSG00000162490	ENST00000294485	T	0.41758	0.99	4.75	3.79	0.43588	.	0.596919	0.15771	N	0.245417	T	0.37183	0.0994	M	0.63428	1.95	0.24366	N	0.99486	B	0.31817	0.341	B	0.35971	0.215	T	0.18023	-1.0350	10	0.21540	T	0.41	-18.1021	5.62	0.17451	0.1965:0.6965:0.0:0.1069	.	86	Q8NBI3	DRAXI_HUMAN	K	86	ENSP00000294485:Q86K	ENSP00000294485:Q86K	Q	+	1	0	C1orf187	11689158	0.971000	0.33674	0.999000	0.59377	0.545000	0.35147	0.289000	0.18957	2.175000	0.68902	0.313000	0.20887	CAG		PASS	0.711	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		7	11	7	11	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12837316	12837316	+	Silent	SNP	G	G	T	rs201412674		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:12837316G>T	ENST00000357726.4	+	3	1053	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L342L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTTCTGCTGGAGCAAG	0.587																																						uc001aui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1024-1026)CTG>CTT		PRAME family member 12							82.0	84.0	84.0					1																	12837316		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837316G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1026G>T	1.37:g.12837316G>T							p.L342L	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1053	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	342						Silent	SNP	ENST00000357726.4	37	c.1026G>T	CCDS41254.1																																																																																				PASS	0.587	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		35	61	35	61	---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16456843	16456843	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:16456843G>T	ENST00000358432.5	-	15	2701	c.2547C>A	c.(2545-2547)ctC>ctA	p.L849L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	849	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L849L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACTGCATCATGAGCTGGTAGA	0.627																																						uc001aya.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2545-2547)CTC>CTA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						53.0	54.0	54.0					1																	16456843		2203	4300	6503	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456843G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2547C>A	1.37:g.16456843G>T							p.L849L	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2684	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	849			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.2547C>A	CCDS169.1																																																																																				PASS	0.627	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		8	22	8	22	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17281810	17281810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:17281810G>T	ENST00000375541.5	+	24	3538	c.3469G>T	c.(3469-3471)Gaa>Taa	p.E1157*		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E1157*(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCACAGGCAGAAGAGCTTCG	0.697																																						uc001azt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(3469-3471)GAA>TAA		ciliary rootlet coiled-coil							26.0	31.0	29.0					1																	17281810		2191	4292	6483	SO:0001587	stop_gained	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281810G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3469G>T	1.37:g.17281810G>T	ENSP00000364691:p.Glu1157*					CROCC_uc001azu.2_Nonsense_Mutation_p.E460*	p.E1157*	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3538	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1157			Potential.			Nonsense_Mutation	SNP	ENST00000375541.5	37	c.3469G>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307531	0.95629	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.0938	0.72217	0.0:0.0:1.0:0.0	.	.	.	.	X	1157;1038	.	ENSP00000364691:E1157X	E	+	1	0	CROCC	17154397	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.647000	0.83462	2.343000	0.79666	0.561000	0.74099	GAA		PASS	0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		8	24	8	24	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17961049	17961049	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:17961049C>A	ENST00000361221.3	+	17	1896	c.1737C>A	c.(1735-1737)gcC>gcA	p.A579A	ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000452522.1_Silent_p.A540A|ARHGEF10L_ENST00000375420.3_Silent_p.A337A|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000375415.1_Silent_p.A540A|ARHGEF10L_ENST00000434513.1_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	579						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A579A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCAGGCCTGCCAACCACAGGT	0.617																																						uc001ban.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1735-1737)GCC>GCA		Rho guanine nucleotide exchange factor (GEF)							97.0	100.0	99.0					1																	17961049		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961049C>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1737C>A	1.37:g.17961049C>A						ARHGEF10L_uc009vpe.1_Silent_p.A540A|ARHGEF10L_uc001bao.2_Silent_p.A540A|ARHGEF10L_uc001bap.2_Intron|ARHGEF10L_uc010ocr.1_Silent_p.A337A|ARHGEF10L_uc001baq.2_Intron|ARHGEF10L_uc010ocs.1_Intron|ARHGEF10L_uc001bar.2_Intron|ARHGEF10L_uc009vpf.2_Intron	p.A579A	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	17	1896	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	579					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1737C>A	CCDS182.1																																																																																				PASS	0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		33	72	33	72	---	---	---	---
IL22RA1	58985	broad.mit.edu	37	1	24448198	24448198	+	Silent	SNP	C	C	A	rs143248338		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:24448198C>A	ENST00000270800.1	-	7	860	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	274					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.P274P(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGAAGCGCAGCGGCTGGAAAG	0.607																																						uc001biq.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(820-822)CCG>CCT		interleukin 22 receptor, alpha 1 precursor							19.0	20.0	20.0					1																	24448198		2200	4299	6499	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24448198C>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.822G>T	1.37:g.24448198C>A						IL22RA1_uc010oeg.1_Silent_p.P206P|IL22RA1_uc009vrb.1_Silent_p.P138P|IL22RA1_uc010oeh.1_Silent_p.P274P	p.P274P	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	861	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	274			Cytoplasmic (Potential).		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.822G>T	CCDS247.1																																																																																				PASS	0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			4	6	4	6	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29609253	29609253	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:29609253A>T	ENST00000345512.3	+	12	2063	c.1934A>T	c.(1933-1935)gAc>gTc	p.D645V	PTPRU_ENST00000323874.8_Missense_Mutation_p.D645V|PTPRU_ENST00000460170.2_Missense_Mutation_p.D645V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.D645V|PTPRU_ENST00000428026.2_Missense_Mutation_p.D645V|PTPRU_ENST00000356870.3_Missense_Mutation_p.D645V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	645	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D645V(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGTGGACAGGACTGCTTCCCA	0.667																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(1933-1935)GAC>GTC		protein tyrosine phosphatase, receptor type, U							67.0	59.0	61.0					1																	29609253		2203	4299	6502	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609253A>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1934A>T	1.37:g.29609253A>T	ENSP00000334941:p.Asp645Val					PTPRU_uc001brv.2_Missense_Mutation_p.D645V|PTPRU_uc001brw.2_Missense_Mutation_p.D645V|PTPRU_uc009vtq.2_Missense_Mutation_p.D645V|PTPRU_uc009vtr.2_Missense_Mutation_p.D645V	p.D645V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2044	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	645			Extracellular (Potential).|Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1934A>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368071	0.82463	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34859	1.36;1.39;1.39;1.39;1.34;1.39	5.52	4.4	0.53042	.	0.131443	0.49916	D	0.000138	T	0.38639	0.1048	L	0.47716	1.5	0.58432	D	0.99999	P;P;P;P;P	0.48089	0.905;0.905;0.905;0.846;0.846	P;P;P;P;P	0.51615	0.675;0.675;0.675;0.475;0.475	T	0.11372	-1.0590	9	.	.	.	.	7.5604	0.27847	0.841:0.0:0.159:0.0	.	645;645;645;645;645	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	645	ENSP00000334941:D645V;ENSP00000362884:D645V;ENSP00000349333:D645V;ENSP00000314987:D645V;ENSP00000392332:D645V;ENSP00000432906:D645V	.	D	+	2	0	PTPRU	29481840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.646000	0.61411	2.100000	0.63781	0.448000	0.29417	GAC		PASS	0.667	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			5	30	5	30	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006033	38006033	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:38006033C>A	ENST00000296215.6	-	3	723	c.651G>T	c.(649-651)gaG>gaT	p.E217D	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	217					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E217D(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TAGCGGGCACCTCTTTTTCTT	0.532																																						uc001cbi.2																			1	Substitution - Missense(1)	p.E217Q(1)	lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(649-651)GAG>GAT		Smad nuclear interacting protein							61.0	66.0	64.0					1																	38006033		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38006033C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.651G>T	1.37:g.38006033C>A	ENSP00000296215:p.Glu217Asp					SNIP1_uc010oid.1_RNA	p.E217D	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			3	724	-		Myeloproliferative disorder(586;0.0393)	217					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.651G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158393	0.21454	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.15603	2.41	5.86	-0.378	0.12497	.	0.468395	0.24965	N	0.034196	T	0.08670	0.0215	N	0.25094	0.71	0.20975	N	0.999819	B	0.06786	0.001	B	0.06405	0.002	T	0.37314	-0.9711	10	0.16420	T	0.52	-17.2914	7.695	0.28590	0.0:0.4411:0.2529:0.306	.	217	Q8TAD8	SNIP1_HUMAN	D	217;201	ENSP00000296215:E217D	ENSP00000296215:E217D	E	-	3	2	SNIP1	37778620	0.000000	0.05858	0.914000	0.36105	0.874000	0.50279	-0.263000	0.08670	0.012000	0.14892	-0.150000	0.13652	GAG		PASS	0.532	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		20	36	20	36	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43232245	43232245	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:43232245C>A	ENST00000296388.5	-	1	449	c.398G>T	c.(397-399)aGc>aTc	p.S133I	C1orf50_ENST00000536543.1_5'Flank|LEPRE1_ENST00000236040.4_Missense_Mutation_p.S133I|C1orf50_ENST00000372525.5_5'Flank|LEPRE1_ENST00000397054.3_Missense_Mutation_p.S133I			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	133					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.S133I(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATCTCTTCGCTGAGCGAGTG	0.711																																						uc001chv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(397-399)AGC>ATC		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						11.0	11.0	11.0					1																	43232245		2151	4191	6342	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43232245C>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.398G>T	1.37:g.43232245C>A	ENSP00000296388:p.Ser133Ile					LEPRE1_uc001chw.2_Missense_Mutation_p.S133I|LEPRE1_uc001chx.3_Missense_Mutation_p.S133I|LEPRE1_uc001chy.3_Missense_Mutation_p.S133I|LEPRE1_uc001chz.2_Missense_Mutation_p.S133I|C1orf50_uc001cia.3_5'Flank	p.S133I	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			1	511	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	133					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.398G>T	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278077	0.80692	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000372526	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.14	4.14	0.48551	Tetratricopeptide-like helical (1);	0.139167	0.64402	D	0.000007	T	0.69940	0.3167	M	0.75085	2.285	0.43199	D	0.995048	D;D;D;P	0.71674	0.998;0.97;0.976;0.947	D;P;P;P	0.69142	0.962;0.714;0.776;0.642	T	0.74497	-0.3646	10	0.66056	D	0.02	-21.4807	13.9584	0.64164	0.0:1.0:0.0:0.0	.	133;133;133;133	E2QRI1;Q32P28-2;Q32P28-3;Q32P28	.;.;.;P3H1_HUMAN	I	133	ENSP00000380245:S133I;ENSP00000236040:S133I;ENSP00000296388:S133I;ENSP00000361604:S133I	ENSP00000236040:S133I	S	-	2	0	LEPRE1	43004832	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.673000	0.46858	2.146000	0.66826	0.453000	0.30009	AGC		PASS	0.711	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		4	10	4	10	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52954643	52954643	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:52954643C>A	ENST00000371544.3	-	9	1715	c.1453G>T	c.(1453-1455)Gcc>Tcc	p.A485S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.A485S|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	485					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.A485S(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCCAAGGGCAGTAAGTAAA	0.363																																						uc001ctx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1453-1455)GCC>TCC		zinc finger, CCHC domain containing 11 isoform							106.0	100.0	102.0					1																	52954643		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52954643C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1453G>T	1.37:g.52954643C>A	ENSP00000360599:p.Ala485Ser					ZCCHC11_uc001cty.2_Missense_Mutation_p.A485S|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A485S|ZCCHC11_uc009vze.1_Missense_Mutation_p.A485S|ZCCHC11_uc009vzf.1_Missense_Mutation_p.A244S|ZCCHC11_uc001cub.2_Missense_Mutation_p.A485S|ZCCHC11_uc001cuc.2_RNA	p.A485S	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			9	1687	-			485					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.1453G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116594	0.94385	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;0.984;1.0	D;P;D	0.83275	0.996;0.848;0.994	T	0.34477	-0.9827	10	0.22706	T	0.39	.	19.0877	0.93212	0.0:1.0:0.0:0.0	.	244;485;485	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	S	485;485;485;244	ENSP00000257177:A485S;ENSP00000360599:A485S;ENSP00000433486:A485S;ENSP00000435256:A244S	ENSP00000257177:A485S	A	-	1	0	ZCCHC11	52727231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.761000	0.68801	2.611000	0.88343	0.585000	0.79938	GCC		PASS	0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		18	43	18	43	---	---	---	---
TMED5	50999	broad.mit.edu	37	1	93621951	93621951	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:93621951A>T	ENST00000370282.3	-	3	862	c.377T>A	c.(376-378)cTg>cAg	p.L126Q	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.L126Q|TMED5_ENST00000370280.1_Missense_Mutation_p.L126Q	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	126	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L126Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CATATTATCCAGGATTAATTC	0.358																																						uc001dpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)CTG>CAG		transmembrane emp24 protein transport domain							165.0	157.0	160.0					1																	93621951		2203	4299	6502	SO:0001583	missense	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93621951A>T	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.377T>A	1.37:g.93621951A>T	ENSP00000359305:p.Leu126Gln					TMED5_uc001dpo.2_Missense_Mutation_p.L126Q|TMED5_uc001dpp.2_RNA	p.L126Q	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	3	824	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	126			GOLD.|Lumenal (Potential).		B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.377T>A	CCDS743.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.992046	0.93167	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.47869	0.83;0.83;0.83	5.77	5.77	0.91146	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.75331	-0.3355	10	0.87932	D	0	-24.7417	16.1043	0.81209	1.0:0.0:0.0:0.0	.	126;126	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	Q	126;126;75;126	ENSP00000359305:L126Q;ENSP00000418992:L126Q;ENSP00000359303:L126Q	ENSP00000359303:L126Q	L	-	2	0	TMED5	93394539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.201000	0.70794	0.528000	0.53228	CTG		PASS	0.358	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		29	46	29	46	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109265066	109265066	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:109265066G>C	ENST00000370017.3	+	5	985	c.708G>C	c.(706-708)ttG>ttC	p.L236F	FNDC7_ENST00000271311.2_Missense_Mutation_p.L237F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	236	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.L3F(1)|p.L236F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGATGGCTTTGAGCGACTCTT	0.468																																						uc001dvx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(706-708)TTG>TTC		fibronectin type III domain containing 7							99.0	92.0	95.0					1																	109265066		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109265066G>C		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.708G>C	1.37:g.109265066G>C	ENSP00000359034:p.Leu236Phe					FNDC7_uc010ova.1_Missense_Mutation_p.L3F	p.L236F	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	5	708	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	237			Fibronectin type-III 3.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.708G>C	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.970|3.970	-0.008478|-0.008478	0.07727|0.07727	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.54479	.|0.57;0.57	5.78|5.78	3.86|3.86	0.44501|0.44501	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|1.216370	.|0.05670	.|N	.|0.588478	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.21290|0.21290	N|N	0.999739|0.999739	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.25950|0.25950	-1.0117|-1.0117	5|10	.|0.11485	.|T	.|0.65	0.1434|0.1434	4.2881|4.2881	0.10865|0.10865	0.0915:0.2593:0.532:0.1172|0.0915:0.2593:0.532:0.1172	.|.	.|237;236	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	Q|F	12|236;237	.|ENSP00000359034:L236F;ENSP00000271311:L237F	.|ENSP00000271311:L237F	E|L	+|+	1|3	0|2	FNDC7|FNDC7	109066589|109066589	0.006000|0.006000	0.16342|0.16342	0.163000|0.163000	0.22734|0.22734	0.952000|0.952000	0.60782|0.60782	0.033000|0.033000	0.13754|0.13754	1.451000|1.451000	0.47736|0.47736	0.455000|0.455000	0.32223|0.32223	GAG|TTG		PASS	0.468	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	29	7	29	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110884310	110884310	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:110884310C>A	ENST00000369784.3	+	1	3183	c.2283C>A	c.(2281-2283)tcC>tcA	p.S761S	RBM15_ENST00000487146.2_Silent_p.S761S|RBM15_ENST00000602849.1_Silent_p.S761S|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	761					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S761S(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTTCCTCCAAGCTGAAGT	0.567			T	MKL1	acute megakaryocytic leukemia																																	uc001dzl.1				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2281-2283)TCC>TCA		RNA binding motif protein 15							71.0	72.0	72.0					1																	110884310		2203	4300	6503	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884310C>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2283C>A	1.37:g.110884310C>A						RBM15_uc001dzm.1_Silent_p.S761S|uc001dzj.2_5'Flank	p.S761S	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2366	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	761					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.2283C>A	CCDS822.1																																																																																				PASS	0.567	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		11	58	11	58	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113666601	113666601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:113666601G>T	ENST00000361127.5	+	18	3274	c.3076G>T	c.(3076-3078)Gag>Tag	p.E1026*	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1026					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1026*(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCATCAAAATGAGGGCCTGGC	0.502																																						uc001edf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3076-3078)GAG>TAG		leucine-rich repeats and immunoglobulin-like							107.0	92.0	97.0					1																	113666601		2203	4300	6503	SO:0001587	stop_gained	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113666601G>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3076G>T	1.37:g.113666601G>T	ENSP00000355396:p.Glu1026*					LRIG2_uc009wgn.1_Nonsense_Mutation_p.E923*	p.E1026*	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	18	3274	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	1026			Cytoplasmic (Potential).		Q9NSN2	Nonsense_Mutation	SNP	ENST00000361127.5	37	c.3076G>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	36	5.712530	0.96830	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.2	2.31	0.28768	.	0.311546	0.27349	N	0.019766	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	9.7276	0.40342	0.2243:0.0:0.7757:0.0	.	.	.	.	X	1026	.	ENSP00000355396:E1026X	E	+	1	0	LRIG2	113468124	0.992000	0.36948	0.006000	0.13384	0.119000	0.20118	2.310000	0.43708	0.584000	0.29591	0.650000	0.86243	GAG		PASS	0.502	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		20	29	20	29	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118628604	118628604	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:118628604G>T	ENST00000336338.5	-	13	1768	c.1703C>A	c.(1702-1704)cCa>cAa	p.P568Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	568						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P568Q(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTGTTCCATGGTGGGGGTAG	0.403																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1702-1704)CCA>CAA		sperm associated antigen 17							160.0	157.0	158.0					1																	118628604		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118628604G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1703C>A	1.37:g.118628604G>T	ENSP00000337804:p.Pro568Gln						p.P568Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	13	1771	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	568					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1703C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674280	0.47781	.	.	ENSG00000155761	ENST00000336338	T	0.16597	2.33	5.73	4.63	0.57726	.	0.388156	0.29178	N	0.012914	T	0.21307	0.0513	L	0.50919	1.6	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.01452	-1.1351	10	0.46703	T	0.11	.	12.5698	0.56331	0.0927:0.0:0.9073:0.0	.	568	Q6Q759	SPG17_HUMAN	Q	568	ENSP00000337804:P568Q	ENSP00000337804:P568Q	P	-	2	0	SPAG17	118430127	0.950000	0.32346	0.958000	0.39756	0.985000	0.73830	4.438000	0.59961	2.700000	0.92200	0.650000	0.86243	CCA		PASS	0.403	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	56	14	56	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145558874	145558874	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:145558874C>A	ENST00000355594.4	+	7	580	c.493C>A	c.(493-495)Cac>Aac	p.H165N	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	165								p.H165N(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGGGTGGGCACGCAGCTAT	0.562																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(493-495)CAC>AAC		ankyrin repeat domain 35							123.0	115.0	118.0					1																	145558874		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558874C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.493C>A	1.37:g.145558874C>A	ENSP00000347802:p.His165Asn					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.H8N	p.H165N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			7	601	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		165			ANK 4.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.493C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066840	0.36470	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.63580	-0.05	5.65	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.47455	D	0.000224	T	0.57446	0.2054	L	0.52266	1.64	0.80722	D	1	P	0.51537	0.946	P	0.55667	0.781	T	0.63589	-0.6603	10	0.62326	D	0.03	-11.528	10.5418	0.45037	0.0:0.9113:0.0:0.0887	.	165	Q8N283	ANR35_HUMAN	N	74;165	ENSP00000347802:H165N	ENSP00000347802:H165N	H	+	1	0	ANKRD35	144270231	0.994000	0.37717	0.605000	0.28930	0.005000	0.04900	3.936000	0.56568	1.394000	0.46624	0.655000	0.94253	CAC		PASS	0.562	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		20	64	20	64	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530973	150530973	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:150530973C>A	ENST00000369038.2	+	13	2608	c.2407C>A	c.(2407-2409)Cag>Aag	p.Q803K	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.Q803K|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.Q803K|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.Q826K|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	803	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.Q803K(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGGCCGGGGCCAGAGAAGCCG	0.657																																						uc001eux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2407-2409)CAG>AAG		thrombospondin repeat containing 1 isoform 1							34.0	38.0	37.0					1																	150530973		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530973C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2407C>A	1.37:g.150530973C>A	ENSP00000358034:p.Gln803Lys					ADAMTSL4_uc001euw.2_Missense_Mutation_p.Q803K|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.Q826K|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.Q764K|ADAMTSL4_uc009wlx.2_5'UTR	p.Q803K	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	2643	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		803			TSP type-1 3.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2407C>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089035	0.36855	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.44	5.44	0.79542	.	.	.	.	.	T	0.25419	0.0618	L	0.41573	1.285	0.33278	D	0.561923	B;B;B;B	0.19583	0.028;0.023;0.028;0.037	B;B;B;B	0.24848	0.049;0.056;0.03;0.028	T	0.07888	-1.0749	9	0.17369	T	0.5	.	16.7437	0.85466	0.0:1.0:0.0:0.0	.	764;826;803;803	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	K	803;803;341;826;803	ENSP00000358037:Q803K;ENSP00000271643:Q803K;ENSP00000358035:Q826K;ENSP00000358034:Q803K	ENSP00000271643:Q803K	Q	+	1	0	ADAMTSL4	148797597	0.999000	0.42202	0.991000	0.47740	0.281000	0.26958	3.454000	0.52986	2.549000	0.85964	0.462000	0.41574	CAG		PASS	0.657	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		14	23	14	23	---	---	---	---
CERS2	29956	broad.mit.edu	37	1	150939874	150939874	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:150939874C>A	ENST00000271688.6	-	7	992	c.606G>T	c.(604-606)aaG>aaT	p.K202N	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.K202N|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.K193N	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	202	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.K202N(1)									CCACCTTTCGCTTGACATCAG	0.502																																						uc001evy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)AAG>AAT		LAG1 longevity assurance 2							69.0	61.0	64.0					1																	150939874		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150939874C>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.606G>T	1.37:g.150939874C>A	ENSP00000271688:p.Lys202Asn					LASS2_uc001evz.2_Missense_Mutation_p.K202N|LASS2_uc009wmh.2_Missense_Mutation_p.K52N	p.K202N	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	993	-	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		202			TLC.|Cytoplasmic (Potential).		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.606G>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909543	0.72868	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896;ENST00000368949;ENST00000361419	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.42	2.07	0.26955	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.94385	3.53	0.54753	D	0.99998	D	0.89917	1.0	D	0.83275	0.996	D	0.92199	0.5766	10	0.87932	D	0	-19.1616	10.1396	0.42728	0.0:0.6993:0.0:0.3007	.	202	Q96G23	CERS2_HUMAN	N	202;202;52;222;202	ENSP00000357950:K202N;ENSP00000271688:K202N;ENSP00000337842:K52N;ENSP00000357945:K222N;ENSP00000355020:K202N	ENSP00000271688:K202N	K	-	3	2	CERS2	149206498	0.991000	0.36638	1.000000	0.80357	0.987000	0.75469	0.450000	0.21762	0.610000	0.30035	0.655000	0.94253	AAG		PASS	0.502	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		13	27	13	27	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127910	152127910	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:152127910C>A	ENST00000316073.3	-	3	1729	c.1665G>T	c.(1663-1665)caG>caT	p.Q555H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	555	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Q555H(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGTGGGAACTCTGGCCTTGTC	0.507																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1663-1665)CAG>CAT		repetin							691.0	615.0	638.0					1																	152127910		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127910C>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1665G>T	1.37:g.152127910C>A	ENSP00000317895:p.Gln555His						p.Q555H	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1730	-			555			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1665G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623630	0.46840	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.15256	2.44	4.42	1.3	0.21679	.	1.193380	0.06762	U	0.781987	T	0.19366	0.0465	M	0.77820	2.39	0.09310	N	1	D	0.63880	0.993	P	0.61201	0.885	T	0.05971	-1.0853	10	0.45353	T	0.12	2.4737	4.2704	0.10783	0.0:0.5314:0.1711:0.2975	.	555	Q6XPR3	RPTN_HUMAN	H	555;210	ENSP00000317895:Q555H	ENSP00000317895:Q555H	Q	-	3	2	RPTN	150394534	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	-0.055000	0.11807	0.269000	0.21961	0.453000	0.30009	CAG		PASS	0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		205	417	205	417	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187517	152187517	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:152187517G>T	ENST00000368801.2	-	3	6663	c.6588C>A	c.(6586-6588)tcC>tcA	p.S2196S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2196					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2196S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCGTGGCTGGAGGAGTGCC	0.632																																						uc001ezt.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(6586-6588)TCC>TCA		hornerin							52.0	69.0	63.0					1																	152187517		2172	4286	6458	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187517G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6588C>A	1.37:g.152187517G>T							p.S2196S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6664	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2196			24.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6588C>A	CCDS30859.1																																																																																				PASS	0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		16	271	16	271	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152326015	152326015	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:152326015G>T	ENST00000388718.5	-	3	4319	c.4247C>A	c.(4246-4248)aCa>aAa	p.T1416K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1416					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1416K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCAGTTGTCCTGGACCC	0.517																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4246-4248)ACA>AAA		filaggrin family member 2							271.0	257.0	262.0					1																	152326015		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326015G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4247C>A	1.37:g.152326015G>T	ENSP00000373370:p.Thr1416Lys					uc001ezv.2_Intron	p.T1416K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4320	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1416					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4247C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	5.923	0.354348	0.11182	.	.	ENSG00000143520	ENST00000388718	T	0.07800	3.16	3.88	0.648	0.17801	.	.	.	.	.	T	0.01558	0.0050	L	0.47716	1.5	0.09310	N	1	B	0.24317	0.101	B	0.15052	0.012	T	0.48636	-0.9018	9	0.05959	T	0.93	0.071	7.2887	0.26354	0.0:0.4816:0.3636:0.1548	.	1416	Q5D862	FILA2_HUMAN	K	1416	ENSP00000373370:T1416K	ENSP00000373370:T1416K	T	-	2	0	FLG2	150592639	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.233000	0.01204	-0.103000	0.12175	0.460000	0.39030	ACA		PASS	0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	230	5	230	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153658631	153658631	+	Silent	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:153658631T>C	ENST00000368680.3	+	10	2185	c.1713T>C	c.(1711-1713)cgT>cgC	p.R571R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.R571R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTGTGAACCGTAAACGCATTG	0.557																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1711-1713)CGT>CGC		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						139.0	112.0	121.0					1																	153658631		2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153658631T>C	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1713T>C	1.37:g.153658631T>C						NPR1_uc010pdz.1_Silent_p.R317R|NPR1_uc010pea.1_Intron	p.R571R	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	2134	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		571			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1713T>C	CCDS1051.1																																																																																				PASS	0.557	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	14	5	14	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154923709	154923709	+	Splice_Site	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:154923709T>C	ENST00000368463.3	-	5	479	c.408A>G	c.(406-408)gcA>gcG	p.A136A	PBXIP1_ENST00000368460.3_Splice_Site_p.A136A|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_5'UTR|PBXIP1_ENST00000368465.1_Splice_Site_p.A107A	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	136					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.A136A(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACTCTCACCTGCTTTGGGGG	0.592																																						uc001ffr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(406-408)GCA>GCG		pre-B-cell leukemia homeobox interacting protein							68.0	61.0	63.0					1																	154923709		2203	4300	6503	SO:0001630	splice_region_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154923709T>C	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.409+1A>G	1.37:g.154923709T>C						PBXIP1_uc001ffs.2_Silent_p.A107A|PBXIP1_uc010pep.1_5'UTR|PBXIP1_uc009woy.1_RNA	p.A136A	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	467	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		136					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.408A>G	CCDS1074.1																																																																																				PASS	0.592	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	Silent	7	15	7	15	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155931687	155931687	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:155931687C>A	ENST00000361247.4	-	11	1332	c.1233G>T	c.(1231-1233)gaG>gaT	p.E411D	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E410D|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.E456D|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.E383D|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E383D|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.E412D	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	411	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E383D(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCTGGCGCTCCTCCTCGA	0.587																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1231-1233)GAG>GAT		Rho/Rac guanine nucleotide exchange factor 2							77.0	76.0	76.0					1																	155931687		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931687C>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1233G>T	1.37:g.155931687C>A	ENSP00000354837:p.Glu411Asp					ARHGEF2_uc001fmr.2_Missense_Mutation_p.E383D|ARHGEF2_uc001fms.2_Missense_Mutation_p.E410D|ARHGEF2_uc001fmu.2_Missense_Mutation_p.E455D|ARHGEF2_uc010pgt.1_Missense_Mutation_p.E384D|ARHGEF2_uc010pgu.1_Missense_Mutation_p.E456D	p.E411D	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			11	1351	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		411			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1233G>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906252	0.33628	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.86	-2.6	0.06190	Dbl homology (DH) domain (5);	0.000000	0.47455	D	0.000228	T	0.53802	0.1819	L	0.52206	1.635	0.26468	N	0.975332	P;P;D;P	0.67145	0.837;0.937;0.996;0.834	P;P;D;P	0.77557	0.601;0.75;0.99;0.704	T	0.61088	-0.7133	10	0.27082	T	0.32	-30.5396	12.4196	0.55512	0.0:0.4951:0.0:0.5049	.	456;455;411;410	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	D	383;411;412;383;456;384;410	ENSP00000315325:E383D;ENSP00000354837:E411D;ENSP00000357298:E412D;ENSP00000357299:E383D;ENSP00000314787:E410D	ENSP00000314787:E410D	E	-	3	2	ARHGEF2	154198311	0.000000	0.05858	0.514000	0.27761	0.240000	0.25518	-1.291000	0.02775	-0.647000	0.05444	-1.094000	0.02160	GAG		PASS	0.587	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		37	56	37	56	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157509155	157509155	+	Splice_Site	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:157509155C>A	ENST00000361835.3	-	7	1281		c.e7-1		FCRL5_ENST00000368190.3_Splice_Site|FCRL5_ENST00000368189.3_Splice_Site|FCRL5_ENST00000356953.4_Splice_Site|FCRL5_ENST00000368191.3_Splice_Site	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5						negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.?(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GACACGGGAACTGAGAGAGAG	0.448																																						uc001fqu.2																			1	Unknown(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.e7-1		Fc receptor-like 5							57.0	62.0	61.0					1																	157509155		2203	4300	6503	SO:0001630	splice_region_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509155C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1124-1G>T	1.37:g.157509155C>A						FCRL5_uc009wsm.2_Splice_Site_p.V375_splice|FCRL5_uc010phv.1_Splice_Site_p.V375_splice|FCRL5_uc010phw.1_Splice_Site_p.V290_splice|FCRL5_uc001fqv.1_Splice_Site_p.V375_splice|FCRL5_uc010phx.1_Splice_Site_p.V126_splice	p.V375_splice	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			7	1282	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)						A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Splice_Site	SNP	ENST00000361835.3	37	c.1124_splice	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	8.263	0.811537	0.16537	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.28254	N	0.925124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5838	0.33646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL5	155775779	0.996000	0.38824	0.117000	0.21633	0.139000	0.21198	3.427000	0.52785	1.715000	0.51383	0.313000	0.20887	.		PASS	0.448	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	Intron	12	25	12	25	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804231	157804231	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:157804231G>C	ENST00000368174.4	-	4	780	c.684C>G	c.(682-684)tgC>tgG	p.C228W	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	228	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.C228W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCATGGTTGCAGGTGTTCT	0.488																																						uc001frk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)TGC>TGG		CD5 molecule-like precursor							52.0	45.0	48.0					1																	157804231		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804231G>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.684C>G	1.37:g.157804231G>C	ENSP00000357156:p.Cys228Trp						p.C228W	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	827	-	all_hematologic(112;0.0378)		228			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.684C>G	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305394	0.40795	.	.	ENSG00000073754	ENST00000368174	T	0.52983	0.64	4.97	-2.99	0.05497	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.255280	0.28409	N	0.015458	T	0.70718	0.3256	H	0.98833	4.345	0.37555	D	0.918841	D	0.89917	1.0	D	0.97110	1.0	T	0.78023	-0.2366	10	0.87932	D	0	.	11.1255	0.48315	0.6258:0.0:0.3742:0.0	.	228	O43866	CD5L_HUMAN	W	228	ENSP00000357156:C228W	ENSP00000357156:C228W	C	-	3	2	CD5L	156070855	0.000000	0.05858	0.015000	0.15790	0.013000	0.08279	0.202000	0.17295	-0.452000	0.07087	-0.136000	0.14681	TGC		PASS	0.488	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		12	29	12	29	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					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.A2011V(6)		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)					CAGCAGAGCGGCATAACGCTC	0.483																																						uc001fst.1																			6	Substitution - Missense(6)		lung(4)|urinary_tract(1)|prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6031-6033)GCC>GTC		spectrin, alpha, erythrocytic 1							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	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.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val						p.A2011V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			43	6231	-	all_hematologic(112;0.0378)		2011			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		PASS	0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	335	5	335	---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161697326	161697326	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:161697326G>T	ENST00000367948.2	+	8	1370	c.1155G>T	c.(1153-1155)ctG>ctT	p.L385L	FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000392158.1_Silent_p.L385L|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	385					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.L385L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AAGGCCTTCTGAGCCGGGTGG	0.647																																						uc001gbh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1153-1155)CTG>CTT		Fc receptor-like B							37.0	43.0	41.0					1																	161697326		2203	4300	6503	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161697326G>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1155G>T	1.37:g.161697326G>T						FCRLB_uc009wus.2_Silent_p.L385L|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.L385L|FCRLB_uc001gbn.3_3'UTR	p.L385L	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1389	+	all_hematologic(112;0.0359)		385					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.1155G>T	CCDS30927.1																																																																																				PASS	0.647	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		17	40	17	40	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178427449	178427449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:178427449C>T	ENST00000462775.1	+	12	2724	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	RASAL2_ENST00000448150.3_Nonsense_Mutation_p.Q997*|RASAL2_ENST00000367649.3_Nonsense_Mutation_p.Q1008*	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	867					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.Q997*(1)|p.Q1008*(1)|p.Q867*(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TAGTACTGGGCAGGCCCAGAT	0.552																																						uc001glr.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2599-2601)CAG>TAG		RAS protein activator like 2 isoform 1							63.0	63.0	63.0					1																	178427449		2203	4300	6503	SO:0001587	stop_gained	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427449C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2599C>T	1.37:g.178427449C>T	ENSP00000420558:p.Gln867*					RASAL2_uc001glq.2_Nonsense_Mutation_p.Q1008*|RASAL2_uc009wxc.2_Nonsense_Mutation_p.Q381*	p.Q867*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2724	+			867					F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000462775.1	37	c.2599C>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.472182|7.472182	0.98306|0.98306	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.229531	.|0.37761	.|N	.|0.001944	T|.	0.80607|.	0.4655|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81597|.	-0.0860|.	3|.	.|0.56958	.|D	.|0.05	.|.	19.321|19.321	0.94240|0.94240	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	417|997;1008;867	.|.	.|ENSP00000356621:Q1008X	A|Q	+|+	2|1	0|0	RASAL2|RASAL2	176694072|176694072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.688000|2.688000	0.46984|0.46984	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GCA|CAG		PASS	0.552	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		11	25	11	25	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179989506	179989506	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:179989506C>A	ENST00000367607.3	+	12	3015	c.2597C>A	c.(2596-2598)gCa>gAa	p.A866E		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	866					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A866E(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTGCAGCAGGCACCTCAAGAA	0.463																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2596-2598)GCA>GAA		centrosome-associated protein 350							164.0	161.0	162.0					1																	179989506		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989506C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2597C>A	1.37:g.179989506C>A	ENSP00000356579:p.Ala866Glu					CEP350_uc009wxl.2_Missense_Mutation_p.A865E|CEP350_uc001gnu.2_Missense_Mutation_p.A700E	p.A866E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	2980	+			866					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2597C>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047138	0.08243	.	.	ENSG00000135837	ENST00000367607	T	0.23950	1.88	6.02	2.93	0.34026	.	0.868735	0.09632	N	0.776079	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33033	-0.9884	9	.	.	.	.	8.3971	0.32564	0.2427:0.3466:0.4106:0.0	.	866;866	E7EU22;Q5VT06	.;CE350_HUMAN	E	866	ENSP00000356579:A866E	.	A	+	2	0	CEP350	178256129	0.007000	0.16637	0.003000	0.11579	0.891000	0.51852	1.799000	0.38824	0.811000	0.34303	0.655000	0.94253	GCA		PASS	0.463	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		40	87	40	87	---	---	---	---
TEDDM1	127670	broad.mit.edu	37	1	182369170	182369170	+	Missense_Mutation	SNP	G	G	T	rs112817733		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:182369170G>T	ENST00000367565.1	-	1	581	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	151						integral component of membrane (GO:0016021)		p.P151T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CACATGTTGGGAGCCCACAGC	0.507																																						uc001gpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(451-453)CCC>ACC		putative membrane protein HE9							97.0	98.0	97.0					1																	182369170		2203	4300	6503	SO:0001583	missense	127670					integral to membrane		g.chr1:182369170G>T	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.451C>A	1.37:g.182369170G>T	ENSP00000356536:p.Pro151Thr						p.P151T	NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN			1	582	-			151					Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	c.451C>A	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830226	0.50845	.	.	ENSG00000203730	ENST00000367565	T	0.51325	0.71	5.05	5.05	0.67936	.	0.089231	0.47455	D	0.000225	T	0.70945	0.3282	M	0.83223	2.63	0.34689	D	0.725538	D	0.89917	1.0	D	0.77557	0.99	T	0.81187	-0.1047	10	0.72032	D	0.01	-53.1244	15.9579	0.79902	0.0:0.0:1.0:0.0	.	151	Q5T9Z0	TEDM1_HUMAN	T	151	ENSP00000356536:P151T	ENSP00000356536:P151T	P	-	1	0	TEDDM1	180635793	0.971000	0.33674	0.900000	0.35374	0.176000	0.22953	1.409000	0.34680	2.618000	0.88619	0.655000	0.94253	CCC		PASS	0.507	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		12	47	12	47	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183191274	183191274	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:183191274C>A	ENST00000264144.4	+	6	756	c.691C>A	c.(691-693)Caa>Aaa	p.Q231K	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q231K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	231	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.Q231K(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGCAAAGCTCCAATGGTCACA	0.468																																						uc001gqa.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(691-693)CAA>AAA		laminin, gamma 2 isoform a precursor							203.0	178.0	187.0					1																	183191274		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183191274C>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.691C>A	1.37:g.183191274C>A	ENSP00000264144:p.Gln231Lys					LAMC2_uc001gpz.3_Missense_Mutation_p.Q231K|LAMC2_uc010poa.1_5'UTR	p.Q231K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			6	1005	+			231			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.691C>A	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433389	0.62844	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17528	2.43;2.27	4.76	4.76	0.60689	Laminin B type IV (1);Growth factor, receptor (1);	0.316709	0.27609	N	0.018603	T	0.21186	0.0510	L	0.47716	1.5	0.45318	D	0.998314	B;B	0.28233	0.062;0.204	B;B	0.33521	0.058;0.165	T	0.03662	-1.1015	10	0.36615	T	0.2	.	17.8105	0.88614	0.0:1.0:0.0:0.0	.	231;231	Q13753;Q13753-2	LAMC2_HUMAN;.	K	231	ENSP00000432063:Q231K;ENSP00000264144:Q231K	ENSP00000264144:Q231K	Q	+	1	0	LAMC2	181457897	0.999000	0.42202	0.995000	0.50966	0.936000	0.57629	2.812000	0.47994	2.193000	0.70182	0.650000	0.86243	CAA		PASS	0.468	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		26	84	26	84	---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183255900	183255901	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:183255900_183255901GG>TT	ENST00000287713.6	-	5	678_679	c.344_345CC>AA	c.(343-345)tCC>tAA	p.S115*	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Nonsense_Mutation_p.S110*	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	115					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.S115S(1)|p.S115*(1)|p.S115Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TGTTGACATTGGAGAGGATGCA	0.505																																						uc001gqc.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(343-345)TCC>TCA|c.(343-345)TCC>TAC		nicotinamide mononucleotide adenylyltransferase																																				SO:0001587	stop_gained	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183255900G>T|g.chr1:183255901G>T	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.344_345delinsTT	1.37:g.183255900_183255901delinsTT	ENSP00000287713:p.Ser115*					NMNAT2_uc001gqb.1_Silent_p.S110S|NMNAT2_uc001gqd.2_Silent_p.S10S|NMNAT2_uc001gqb.1_Missense_Mutation_p.S110Y|NMNAT2_uc001gqd.2_Missense_Mutation_p.S10Y	p.S115S|p.S115Y	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			5	680|679	-			115					O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent|Missense_Mutation	SNP	ENST00000287713.6	37	c.345C>A|c.344C>A	CCDS1353.1																																																																																				PASS	0.505	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			13	38|39	13	38	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185151152	185151152	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:185151152G>T	ENST00000367500.4	+	7	1266	c.1101G>T	c.(1099-1101)atG>atT	p.M367I	SWT1_ENST00000367501.3_Missense_Mutation_p.M367I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	367								p.M367I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAATGAGTATGGAAATTGACT	0.388																																						uc001grg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)ATG>ATT		hypothetical protein LOC54823							189.0	165.0	173.0					1																	185151152		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185151152G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1101G>T	1.37:g.185151152G>T	ENSP00000356470:p.Met367Ile					C1orf26_uc001grh.3_Missense_Mutation_p.M367I	p.M367I	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			7	1215	+			367					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1101G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172248	0.78452	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20200	2.09;2.09	5.71	5.71	0.89125	.	0.047500	0.85682	D	0.000000	T	0.36580	0.0972	L	0.29908	0.895	0.41641	D	0.989072	D	0.69078	0.997	D	0.73380	0.98	T	0.08827	-1.0703	10	0.66056	D	0.02	.	18.0355	0.89301	0.0:0.0:1.0:0.0	.	367	Q5T5J6	SWT1_HUMAN	I	367	ENSP00000356471:M367I;ENSP00000356470:M367I	ENSP00000356470:M367I	M	+	3	0	SWT1	183417775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.771000	0.68881	2.691000	0.91804	0.561000	0.74099	ATG		PASS	0.388	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		10	38	10	38	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201195181	201195181	+	Silent	SNP	G	G	T	rs377163692		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:201195181G>T	ENST00000335211.4	+	22	10846	c.10716G>T	c.(10714-10716)gtG>gtT	p.V3572V	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1115						nucleus (GO:0005634)|Z disc (GO:0030018)		p.V3572V(1)|p.V732V(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAGGGTGGTGGCCAAGAATG	0.682																																						uc001gwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2194-2196)GTG>GTT		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;		G		0,4406		0,0,2203	59.0	49.0	52.0		10716	3.0	1.0	1		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFN1	NM_001164586.1		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		3572/3709	201195181	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201195181G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10716G>T	1.37:g.201195181G>T						IGFN1_uc001gwb.2_RNA	p.V732V	NM_178275	NP_840059					11	2968	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.2196G>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	9.672	1.147058	0.21288	0.0	1.16E-4	ENSG00000163395	ENST00000412892	.	.	.	4.91	3.04	0.35103	.	.	.	.	.	T	0.57519	0.2059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51513	-0.8696	4	.	.	.	.	7.9915	0.30244	0.2516:0.0:0.7484:0.0	.	.	.	.	C	990	.	.	G	+	1	0	IGFN1	199461804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.440000	0.35024	0.672000	0.31204	0.561000	0.74099	GGC		PASS	0.682	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		14	27	14	27	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821606	206821606	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:206821606G>T	ENST00000367109.2	+	3	1231	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D335Y|DYRK3_ENST00000367108.3_Missense_Mutation_p.D335Y	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D355Y(1)|p.D320Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAAGGTCATTGACTTTGGGTC	0.463																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(1)	3						c.(1063-1065)GAC>TAC		dual-specificity tyrosine-(Y)-phosphorylation							89.0	97.0	94.0					1																	206821606		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821606G>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1063G>T	1.37:g.206821606G>T	ENSP00000356076:p.Asp355Tyr					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.D335Y	p.D355Y	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1231	+	Breast(84;0.183)		355			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1063G>T	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037002	0.75617	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.93076	-3.16;-3.16;-3.16	5.3	5.3	0.74995	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	D	0.98438	0.9480	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99482	1.0948	10	0.87932	D	0	.	18.1141	0.89545	0.0:0.0:1.0:0.0	.	355;335	O43781;O43781-2	DYRK3_HUMAN;.	Y	355;335;335	ENSP00000356076:D355Y;ENSP00000356075:D335Y;ENSP00000356073:D335Y	ENSP00000356073:D335Y	D	+	1	0	DYRK3	204888229	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.647000	0.98478	2.760000	0.94817	0.549000	0.68633	GAC		PASS	0.463	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		35	68	35	68	---	---	---	---
YOD1	55432	broad.mit.edu	37	1	207222725	207222725	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:207222725G>T	ENST00000315927.4	-	2	733	c.687C>A	c.(685-687)tcC>tcA	p.S229S	YOD1_ENST00000391927.1_Silent_p.S185S|YOD1_ENST00000367084.1_Silent_p.S185S|PFKFB2_ENST00000411990.2_5'Flank	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	229	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.S229S(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GGTAAAACTTGGACAAAATCG	0.388																																						uc001hfe.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(685-687)TCC>TCA		YOD1 OTU deubiquinating enzyme 1 homolog							187.0	185.0	186.0					1																	207222725		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222725G>T		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.687C>A	1.37:g.207222725G>T						PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Silent_p.S185S	p.S229S	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN			2	734	-	Prostate(682;0.19)		229			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.687C>A	CCDS31002.1																																																																																				PASS	0.388	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		63	124	63	124	---	---	---	---
C1orf74	148304	broad.mit.edu	37	1	209956842	209956842	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:209956842C>A	ENST00000294811.1	-	2	394	c.138G>T	c.(136-138)gtG>gtT	p.V46V		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	46								p.V46V(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GTCCCCGGGCCACAGCCAGCA	0.597																																						uc001hhp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(136-138)GTG>GTT		hypothetical protein LOC148304							69.0	69.0	69.0					1																	209956842		2203	4300	6503	SO:0001819	synonymous_variant	148304							g.chr1:209956842C>A	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.138G>T	1.37:g.209956842C>A							p.V46V	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	381	-			46						Silent	SNP	ENST00000294811.1	37	c.138G>T	CCDS1491.1																																																																																				PASS	0.597	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		7	85	7	85	---	---	---	---
TRAF5	7188	broad.mit.edu	37	1	211527758	211527758	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:211527758A>T	ENST00000261464.5	+	3	279	c.225A>T	c.(223-225)ttA>ttT	p.L75F	TRAF5_ENST00000336184.2_Missense_Mutation_p.L75F|TRAF5_ENST00000427925.2_Missense_Mutation_p.L75F|TRAF5_ENST00000367004.3_Missense_Mutation_p.L75F|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	75					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L75F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CCAGAGAATTAAACACAGTGC	0.458																																						uc001hih.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|ovary(1)	5						c.(223-225)TTA>TTT		TNF receptor-associated factor 5							71.0	71.0	71.0					1																	211527758		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211527758A>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.225A>T	1.37:g.211527758A>T	ENSP00000261464:p.Leu75Phe					TRAF5_uc001hii.2_Missense_Mutation_p.L75F|TRAF5_uc010psx.1_Missense_Mutation_p.L75F|TRAF5_uc010psy.1_Missense_Mutation_p.L75F|TRAF5_uc001hij.2_Missense_Mutation_p.L75F	p.L75F	NM_004619	NP_004610	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	3	285	+			75			RING-type.		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.225A>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.996738	0.54147	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	4.86	-0.283	0.12874	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.180867	0.35466	N	0.003185	D	0.84042	0.5385	L	0.31207	0.915	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.99;0.998	D;P;D	0.83275	0.996;0.876;0.955	T	0.74589	-0.3615	10	0.54805	T	0.06	-15.6024	6.3977	0.21620	0.4327:0.1462:0.4211:0.0	.	75;75;75	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	F	75	ENSP00000336825:L75F;ENSP00000389891:L75F;ENSP00000261464:L75F;ENSP00000355971:L75F	ENSP00000261464:L75F	L	+	3	2	TRAF5	209594381	0.084000	0.21492	0.106000	0.21319	0.721000	0.41392	0.176000	0.16782	-0.345000	0.08325	0.460000	0.39030	TTA		PASS	0.458	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		9	24	9	24	---	---	---	---
DTL	51514	broad.mit.edu	37	1	212220693	212220693	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:212220693C>A	ENST00000366991.4	+	5	708	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.L90M	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	132					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L132M(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGCTGGTGAGCTGATTGGAAC	0.388																																						uc009xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CTG>ATG		denticleless homolog							223.0	214.0	217.0					1																	212220693		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212220693C>A	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.394C>A	1.37:g.212220693C>A	ENSP00000355958:p.Leu132Met					DTL_uc010ptb.1_Missense_Mutation_p.L90M|DTL_uc001hiz.3_Translation_Start_Site	p.L132M	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	5	708	+			132			WD 2.		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.394C>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652298	0.67472	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.61627	0.09;0.09	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.60064	0.2240	L	0.43554	1.36	0.80722	D	1	P;P	0.44690	0.841;0.788	B;P	0.46825	0.393;0.528	T	0.59112	-0.7515	10	0.42905	T	0.14	-19.2177	19.3517	0.94389	0.0:1.0:0.0:0.0	.	90;132	F5GZ90;Q9NZJ0	.;DTL_HUMAN	M	132;90	ENSP00000355958:L132M;ENSP00000443870:L90M	ENSP00000355958:L132M	L	+	1	2	DTL	210287316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.660000	0.46749	2.587000	0.87381	0.655000	0.94253	CTG		PASS	0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		50	97	50	97	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216251535	216251535	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:216251535G>C	ENST00000307340.3	-	27	5854	c.5468C>G	c.(5467-5469)gCa>gGa	p.A1823G	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.A1823G|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1823	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A1823G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGACTCCGATGCATGCTTCAT	0.433										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5467-5469)GCA>GGA		usherin isoform B							114.0	116.0	115.0					1																	216251535		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251535G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5468C>G	1.37:g.216251535G>C	ENSP00000305941:p.Ala1823Gly	HNSCC(13;0.011)					p.A1823G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5855	-			1823			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5468C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452172	0.26074	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	5.01	-3.9	0.04181	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.452840	0.04773	N	0.428387	T	0.60779	0.2295	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.43343	-0.9397	10	0.21014	T	0.42	.	7.8414	0.29400	0.4176:0.0:0.4718:0.1106	.	1823	O75445	USH2A_HUMAN	G	1823	ENSP00000305941:A1823G;ENSP00000355910:A1823G	ENSP00000305941:A1823G	A	-	2	0	USH2A	214318158	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.405000	0.07196	-1.048000	0.03238	-0.355000	0.07637	GCA		PASS	0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		61	114	61	114	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220275535	220275535	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:220275535G>T	ENST00000302637.5	+	4	719	c.615G>T	c.(613-615)atG>atT	p.M205I	IARS2_ENST00000366922.1_Missense_Mutation_p.M133I	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	205					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.M205I(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGGGAATAATGGCAGATTGGA	0.308																																						uc001hmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(613-615)ATG>ATT		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						80.0	79.0	80.0					1																	220275535		2202	4299	6501	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220275535G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.615G>T	1.37:g.220275535G>T	ENSP00000303279:p.Met205Ile						p.M205I	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	4	719	+			205					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.615G>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548818	0.86127	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.40756	1.02;1.02	5.96	5.96	0.96718	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42361	-0.9456	10	0.26408	T	0.33	-9.4966	20.4018	0.98996	0.0:0.0:1.0:0.0	.	205	Q9NSE4	SYIM_HUMAN	I	133;205	ENSP00000355889:M133I;ENSP00000303279:M205I	ENSP00000303279:M205I	M	+	3	0	IARS2	218342158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.511000	0.98006	2.815000	0.96918	0.650000	0.86243	ATG		PASS	0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		13	102	13	102	---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231337116	231337116	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:231337116C>T	ENST00000366653.5	+	5	1387	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	TRIM67_ENST00000444294.3_Silent_p.L463L|TRIM67_ENST00000366652.2_Silent_p.L463L|TRIM67_ENST00000449018.3_Silent_p.L401L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	463	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.L463L(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCAGATGCTCTGATCAAGCG	0.522																																						uc009xfn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|kidney(1)	4						c.(1387-1389)CTG>TTG		tripartite motif-containing 67							34.0	36.0	36.0					1																	231337116		1942	4141	6083	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337116C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1387C>T	1.37:g.231337116C>T							p.L463L	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			5	1429	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	463			COS.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1387C>T	CCDS44333.1																																																																																				PASS	0.522	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		4	8	4	8	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237948048	237948048	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:237948048G>T	ENST00000366574.2	+	90	13353	c.13036G>T	c.(13036-13038)Ggg>Tgg	p.G4346W	RYR2_ENST00000542537.1_Missense_Mutation_p.G4330W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G4352W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4346					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4344W(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGAGGAGATGGGGAGGAGGG	0.547																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13036-13038)GGG>TGG		cardiac muscle ryanodine receptor							59.0	59.0	59.0					1																	237948048		1921	4123	6044	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948048G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13036G>T	1.37:g.237948048G>T	ENSP00000355533:p.Gly4346Trp					RYR2_uc010pya.1_Missense_Mutation_p.G761W	p.G4346W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13156	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4346					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13036G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264688	0.40095	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93604	-3.25;-3.25;-3.25	5.32	4.41	0.53225	Ryanodine Receptor TM 4-6 (1);	0.439993	0.18707	N	0.133406	D	0.92273	0.7549	N	0.14661	0.345	0.80722	D	1	D;D	0.56287	0.965;0.975	P;P	0.61275	0.886;0.739	D	0.93137	0.6538	10	0.66056	D	0.02	-8.3826	14.2491	0.66007	0.0713:0.0:0.9286:0.0	.	1320;4346	B4DGV4;Q92736	.;RYR2_HUMAN	W	4346;4352;4330;1320	ENSP00000355533:G4346W;ENSP00000353174:G4352W;ENSP00000443798:G4330W	ENSP00000353174:G4352W	G	+	1	0	RYR2	236014671	1.000000	0.71417	0.019000	0.16419	0.381000	0.30169	5.418000	0.66429	1.480000	0.48289	0.650000	0.86243	GGG		PASS	0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	44	16	44	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569619	248569619	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:248569619C>A	ENST00000366474.1	+	1	324	c.324C>A	c.(322-324)ccC>ccA	p.P108P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P108P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCATACACCCATGTACTTCC	0.428																																						uc010pzm.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(322-324)CCC>CCA		olfactory receptor, family 2, subfamily T,							176.0	158.0	164.0					1																	248569619		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569619C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.324C>A	1.37:g.248569619C>A							p.P108P	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	324	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108			Helical; Name=2; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.324C>A	CCDS31115.1																																																																																				PASS	0.428	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			45	109	45	109	---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26462001	26462001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:26462001G>T	ENST00000380649.3	-	2	207	c.78C>A	c.(76-78)tgC>tgA	p.C26*	HADHA_ENST00000457468.2_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	26					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.C26*(1)|p.C26W(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAAATTGCGGCATATATAAC	0.269																																						uc002rgy.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	ovary(1)	1						c.(76-78)TGC>TGA		mitochondrial trifunctional protein, alpha	NADH(DB00157)						85.0	93.0	90.0					2																	26462001		2203	4299	6502	SO:0001587	stop_gained	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26462001G>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.78C>A	2.37:g.26462001G>T	ENSP00000370023:p.Cys26*					HADHA_uc010yks.1_5'UTR|HADHA_uc010ykt.1_5'UTR	p.C26*	NM_000182	NP_000173	P40939	ECHA_HUMAN			2	208	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Nonsense_Mutation	SNP	ENST00000380649.3	37	c.78C>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219903	0.79464	.	.	ENSG00000084754	ENST00000380649	.	.	.	6.17	-0.798	0.10905	.	0.366202	0.35936	N	0.002897	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2458	9.966	0.41725	0.5073:0.0:0.4927:0.0	.	.	.	.	X	26	.	ENSP00000370023:C26X	C	-	3	2	HADHA	26315505	1.000000	0.71417	0.595000	0.28798	0.747000	0.42532	1.065000	0.30592	-0.470000	0.06901	-0.137000	0.14449	TGC		PASS	0.269	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		21	64	21	64	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33413798	33413798	+	Silent	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:33413798T>A	ENST00000404816.2	+	7	1934	c.1581T>A	c.(1579-1581)ccT>ccA	p.P527P	LTBP1_ENST00000354476.3_Silent_p.P527P|LTBP1_ENST00000404525.1_Silent_p.P201P|LTBP1_ENST00000390003.4_Silent_p.P201P|LTBP1_ENST00000402934.1_Silent_p.P201P|LTBP1_ENST00000418533.2_Silent_p.P201P|LTBP1_ENST00000407925.1_Silent_p.P201P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	527					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.P527P(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)				AAGGGCTTCCTGTCCAGAAGA	0.537																																						uc002ros.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1579-1581)CCT>CCA		latent transforming growth factor beta binding							138.0	129.0	132.0					2																	33413798		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:33413798T>A		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.1581T>A	2.37:g.33413798T>A						LTBP1_uc002rot.2_Silent_p.P201P|LTBP1_uc002rou.2_Silent_p.P201P|LTBP1_uc002rov.2_Silent_p.P201P|LTBP1_uc010ymz.1_Silent_p.P201P|LTBP1_uc010yna.1_Silent_p.P201P	p.P527P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			7	1581	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	527					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.1581T>A	CCDS33177.2																																																																																				PASS	0.537	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		23	57	23	57	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54876329	54876329	+	Splice_Site	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:54876329C>T	ENST00000356805.4	+	25	5483		c.e25+2		SPTBN1_ENST00000333896.5_Splice_Site	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.?(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATGTCACGGCAAGTACTTGA	0.557																																						uc002rxu.2																			2	Unknown(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.e25+2		spectrin, beta, non-erythrocytic 1 isoform 1							68.0	57.0	61.0					2																	54876329		2203	4300	6503	SO:0001630	splice_region_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876329C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5202+2C>T	2.37:g.54876329C>T						SPTBN1_uc002rxx.2_Splice_Site_p.T1721_splice	p.T1734_splice	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		25	5451	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Splice_Site	SNP	ENST00000356805.4	37	c.5202_splice	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722704	0.68959	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.88	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2531	0.15532	0.0:0.4626:0.0:0.5374	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN1	54729833	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.849000	0.62882	0.839000	0.34971	0.555000	0.69702	.		PASS	0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		Intron	4	17	4	17	---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55920888	55920888	+	Missense_Mutation	SNP	G	G	T	rs140022349	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:55920888G>T	ENST00000447944.2	-	1	157	c.71C>A	c.(70-72)cCa>cAa	p.P24Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	24					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.P24Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATCCCGCCGTGGCAGAAGGAA	0.647																																						uc002rzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CCA>CAA		polyribonucleotide nucleotidyltransferase 1							67.0	63.0	64.0					2																	55920888		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55920888G>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.71C>A	2.37:g.55920888G>T	ENSP00000400646:p.Pro24Gln					PNPT1_uc002rzg.2_RNA	p.P24Q	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	124	-			24					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.71C>A	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223408	0.58668	.	.	ENSG00000138035	ENST00000447944	T	0.58652	0.32	5.03	5.03	0.67393	.	0.151234	0.47093	D	0.000243	T	0.43964	0.1271	N	0.24115	0.695	0.31930	N	0.612321	P	0.37015	0.578	B	0.33042	0.157	T	0.60535	-0.7244	10	0.87932	D	0	-17.1016	15.4442	0.75216	0.0:0.0:1.0:0.0	.	24	Q8TCS8	PNPT1_HUMAN	Q	24	ENSP00000400646:P24Q	ENSP00000260604:P24Q	P	-	2	0	PNPT1	55774392	0.545000	0.26449	0.951000	0.38953	0.186000	0.23388	3.294000	0.51787	2.641000	0.89580	0.650000	0.86243	CCA		PASS	0.647	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		13	38	13	38	---	---	---	---
PCYOX1	51449	broad.mit.edu	37	2	70502272	70502272	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:70502272G>T	ENST00000433351.2	+	4	704	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C	PCYOX1_ENST00000264441.5_Missense_Mutation_p.G226C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.G149C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.G148C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	226					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.G226C(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGTCAATTATGGCCAAAGCAC	0.463																																						uc002sgn.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(676-678)GGC>TGC		prenylcysteine oxidase 1 precursor							114.0	114.0	114.0					2																	70502272		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502272G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.676G>T	2.37:g.70502272G>T	ENSP00000387654:p.Gly226Cys					PCYOX1_uc010fdo.2_Missense_Mutation_p.G149C|PCYOX1_uc010yqu.1_Missense_Mutation_p.G208C	p.G226C	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN			4	742	+			226					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.676G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341044	0.81911	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.43	5.43	0.79202	Prenylcysteine lyase (1);	0.090866	0.85682	D	0.000000	T	0.51924	0.1703	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58137	-0.7689	10	0.87932	D	0	-17.8581	12.9791	0.58554	0.0:0.0:0.8384:0.1616	.	208;226	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	149;149;226;226;149;148	ENSP00000441566:G149C;ENSP00000413178:G149C;ENSP00000387654:G226C;ENSP00000264441:G226C;ENSP00000408751:G149C;ENSP00000439916:G148C	ENSP00000264441:G226C	G	+	1	0	PCYOX1	70355776	1.000000	0.71417	0.989000	0.46669	0.828000	0.46876	6.368000	0.73104	2.813000	0.96785	0.655000	0.94253	GGC		PASS	0.463	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		30	81	30	81	---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85598601	85598601	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:85598601C>T	ENST00000409890.2	+	10	1190	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	ELMOD3_ENST00000409013.3_Missense_Mutation_p.L175F|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000409344.3_Missense_Mutation_p.L175F|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000315658.7_Missense_Mutation_p.L175F|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000428955.2_Missense_Mutation_p.L175F|ELMOD3_ENST00000393852.4_Missense_Mutation_p.L175F			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	175	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L175F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGGCCGAGTCCTCCAGACCAT	0.572																																						uc002spf.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(523-525)CTC>TTC		ELMO/CED-12 domain containing 3 isoform b							90.0	87.0	88.0					2																	85598601		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85598601C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.523C>T	2.37:g.85598601C>T	ENSP00000386304:p.Leu175Phe					ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Missense_Mutation_p.L175F|ELMOD3_uc002sph.3_Missense_Mutation_p.L175F|ELMOD3_uc010ysn.1_Missense_Mutation_p.L175F|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_Intron	p.L175F	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			11	1188	+			175			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.523C>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877711	0.91664	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	6.17	5.29	0.74685	Engulfment/cell motility, ELMO (2);	0.061993	0.64402	D	0.000003	T	0.74122	0.3675	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	T	0.78674	-0.2112	10	0.87932	D	0	-25.3642	15.4384	0.75165	0.0:0.8606:0.1394:0.0	.	175;175	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	F	175	ENSP00000386257:L175F;ENSP00000387139:L175F;ENSP00000386304:L175F;ENSP00000386248:L175F;ENSP00000377434:L175F;ENSP00000412692:L175F;ENSP00000318264:L175F	ENSP00000318264:L175F	L	+	1	0	ELMOD3	85452112	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.342000	0.65970	1.615000	0.50252	0.655000	0.94253	CTC		PASS	0.572	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		11	24	11	24	---	---	---	---
CAPG	822	broad.mit.edu	37	2	85628387	85628387	+	Silent	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:85628387G>C	ENST00000409921.1	-	5	483	c.417C>G	c.(415-417)ctC>ctG	p.L139L	CAPG_ENST00000263867.4_Silent_p.L139L|CAPG_ENST00000409724.1_Silent_p.L139L|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409670.1_Silent_p.L139L			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	875					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.L139L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCACCTGGTAGAGTTTCTTGA	0.587																																						uc002spl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)CTC>CTG		gelsolin-like capping protein							162.0	157.0	159.0					2																	85628387		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628387G>C	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.417C>G	2.37:g.85628387G>C						CAPG_uc002spm.1_Silent_p.L139L|CAPG_uc010ysq.1_Silent_p.L139L|CAPG_uc010fgi.1_Silent_p.L139L|CAPG_uc010fgj.1_Silent_p.L33L	p.L139L	NM_001747	NP_001738	P40121	CAPG_HUMAN			5	667	-			139			Nuclear localization signal (Potential).		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.417C>G	CCDS58715.1																																																																																				PASS	0.587	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		21	54	21	54	---	---	---	---
IGKV1D-12	28903	broad.mit.edu	37	2	90199101	90199102	+	RNA	DNP	GG	GG	CT			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:90199101_90199102GG>CT	ENST00000390276.2	+	0	443_444									immunoglobulin kappa variable 1D-12																		CAGCGGCAGTGGATCTGGGACA	0.495																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.																																						0							g.chr2:90199101G>C|g.chr2:90199102G>T	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272	Exception_encountered	2.37:g.90199101_90199102delinsCT														24		+									RNA	SNP	ENST00000390276.2	37	c.3232G>C|c.3233G>T																																																																																					PASS	0.495	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		45	97|98	45	97	---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95944749	95944749	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:95944749G>T	ENST00000317620.9	+	10	1264	c.1131G>T	c.(1129-1131)gtG>gtT	p.V377V	PROM2_ENST00000403131.2_Silent_p.V377V|PROM2_ENST00000317668.4_Silent_p.V377V|PROM2_ENST00000542147.1_Silent_p.V377V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	377					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.V377V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGAAGGCAGTGGCCCAGCAGC	0.642																																						uc002suh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1129-1131)GTG>GTT		prominin 2 precursor							37.0	41.0	39.0					2																	95944749		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944749G>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1131G>T	2.37:g.95944749G>T						PROM2_uc002sui.2_Silent_p.V377V|PROM2_uc002suj.2_Silent_p.V31V|PROM2_uc002suk.2_Silent_p.V377V|PROM2_uc002sul.2_5'UTR|PROM2_uc002sum.2_5'Flank	p.V377V	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			10	1264	+			377			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1131G>T	CCDS2012.1																																																																																				PASS	0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		14	21	14	21	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96950236	96950236	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:96950236G>A	ENST00000323853.5	-	31	4329	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1418	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L1418L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTGCCCAGCAGCTTCAGGTCT	0.542																																						uc002svu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4252-4254)CTG>TTG		activating signal cointegrator 1 complex subunit							199.0	155.0	170.0					2																	96950236		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96950236G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4252C>T	2.37:g.96950236G>A						SNRNP200_uc002svt.2_Silent_p.L28L|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR	p.L1418L	NM_014014	NP_054733	O75643	U520_HUMAN			31	4338	-			1418			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.4252C>T	CCDS2020.1																																																																																				PASS	0.542	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		37	63	37	63	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99767229	99767229	+	Intron	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:99767229G>T	ENST00000393483.3	-	1	225				C2ORF15_ENST00000409684.1_Missense_Mutation_p.G104W|C2ORF15_ENST00000302513.2_Missense_Mutation_p.G104W	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.G104W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTCTTTCTGGGAAAGCCTT	0.373																																						uc002szk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GGG>TGG		hypothetical protein LOC150590							90.0	94.0	92.0					2																	99767229		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767229G>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+3926C>A	2.37:g.99767229G>T						TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	p.G104W	NM_144706	NP_653307	Q8WU43	CB015_HUMAN			4	709	+			104					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.310G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	0.263	-0.998296	0.02145	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	5.02	2.27	0.28462	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.28234	N	0.926009	P	0.41710	0.76	P	0.45753	0.492	T	0.10847	-1.0612	8	0.72032	D	0.01	.	6.7601	0.23536	0.2836:0.0:0.7164:0.0	.	104	Q8WU43	CB015_HUMAN	W	104	.	ENSP00000302202:G104W	G	+	1	0	C2orf15	99133661	0.851000	0.29673	0.622000	0.29159	0.016000	0.09150	1.090000	0.30902	0.300000	0.22699	-0.259000	0.10710	GGG		PASS	0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		16	44	16	44	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114256968	114256968	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:114256968G>T	ENST00000306507.5	+	1	308	c.135G>T	c.(133-135)gaG>gaT	p.E45D		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	45					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E45D(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						aggaggaggaggCGAGCCAGA	0.667																																						uc002tjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)GAG>GAT		forkhead box D4-like 1							41.0	65.0	57.0					2																	114256968		2188	4277	6465	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114256968G>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.135G>T	2.37:g.114256968G>T	ENSP00000302756:p.Glu45Asp						p.E45D	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	308	+			45					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.135G>T	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	8.549	0.875031	0.17395	.	.	ENSG00000184492	ENST00000306507	D	0.94687	-3.49	2.67	-1.79	0.07932	.	.	.	.	.	D	0.85784	0.5777	L	0.32530	0.975	0.09310	N	1	P	0.41673	0.759	B	0.29176	0.099	T	0.76487	-0.2941	9	0.36615	T	0.2	.	6.3912	0.21587	0.5699:0.0:0.4301:0.0	.	45	Q9NU39	FX4L1_HUMAN	D	45	ENSP00000302756:E45D	ENSP00000302756:E45D	E	+	3	2	FOXD4L1	113973438	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.863000	0.01651	-0.304000	0.08843	-1.207000	0.01640	GAG		PASS	0.667	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		22	37	22	37	---	---	---	---
EN1	2019	broad.mit.edu	37	2	119604348	119604348	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:119604348G>T	ENST00000295206.6	-	1	906	c.396C>A	c.(394-396)gcC>gcA	p.A132A	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	132					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A132A(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CGCCTCCTCTGGCCGCCGCAG	0.672																																						uc002tlm.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(394-396)GCC>GCA		engrailed homeobox 1							17.0	22.0	21.0					2																	119604348		2058	4087	6145	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604348G>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.396C>A	2.37:g.119604348G>T							p.A132A	NM_001426	NP_001417	Q05925	HME1_HUMAN			1	1412	-			132					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.396C>A	CCDS2123.1																																																																																				PASS	0.672	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			8	10	8	10	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122125228	122125228	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:122125228G>T	ENST00000263710.4	-	35	4211	c.3822C>A	c.(3820-3822)aaC>aaA	p.N1274K	CLASP1_ENST00000409078.3_Missense_Mutation_p.N1207K|CLASP1_ENST00000541377.1_Missense_Mutation_p.N1213K|CLASP1_ENST00000545861.1_Missense_Mutation_p.N981K|CLASP1_ENST00000397587.3_Missense_Mutation_p.N1214K|CLASP1_ENST00000455322.2_Missense_Mutation_p.N1230K|CLASP1_ENST00000541859.1_Missense_Mutation_p.N991K	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1274	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.N1274K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTCGTAGGTGTTGATGGCAT	0.577																																						uc002tnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3820-3822)AAC>AAA		CLIP-associating protein 1 isoform 1							141.0	144.0	143.0					2																	122125228		2076	4200	6276	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125228G>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3822C>A	2.37:g.122125228G>T	ENSP00000263710:p.Asn1274Lys					CLASP1_uc010yyv.1_Missense_Mutation_p.N320K|CLASP1_uc002tmz.2_Missense_Mutation_p.N359K|CLASP1_uc002tna.2_Missense_Mutation_p.N320K|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.N1215K|CLASP1_uc010yza.1_Missense_Mutation_p.N1207K|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.N110K|CLASP1_uc002tnf.2_Missense_Mutation_p.N176K	p.N1274K	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			34	4212	-	Renal(3;0.0496)		1274			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3822C>A		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649168	0.29336	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.42131	2.28;2.29;2.3;2.29;0.98;2.29	5.47	2.67	0.31697	Armadillo-like helical (1);Armadillo-type fold (1);	0.440723	0.28871	N	0.013870	T	0.35653	0.0939	L	0.47716	1.5	0.38766	D	0.954447	B;B;B;B	0.19200	0.02;0.034;0.02;0.031	B;B;B;B	0.18561	0.01;0.022;0.01;0.021	T	0.33523	-0.9865	10	0.56958	D	0.05	-14.3274	11.4615	0.50213	0.2066:0.0:0.7934:0.0	.	1207;1214;1215;1274	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	K	1274;1230;1214;1213;991;1207;981	ENSP00000263710:N1274K;ENSP00000389372:N1230K;ENSP00000380717:N1214K;ENSP00000441625:N1213K;ENSP00000441770:N991K;ENSP00000386442:N1207K	ENSP00000263710:N1274K	N	-	3	2	CLASP1	121841698	1.000000	0.71417	0.992000	0.48379	0.004000	0.04260	4.693000	0.61753	0.805000	0.34159	-0.218000	0.12543	AAC		PASS	0.577	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		5	67	5	67	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128378018	128378019	+	Missense_Mutation	DNP	CC	CC	AA	rs369987716		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:128378018_128378019CC>AA	ENST00000409816.2	+	25	3456_3457	c.3424_3425CC>AA	c.(3424-3426)CCa>AAa	p.P1142K	MYO7B_ENST00000428314.1_Missense_Mutation_p.P1142K|MYO7B_ENST00000389524.4_Missense_Mutation_p.P1142K|MYO7B_ENST00000409090.1_5'UTR			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1142	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1142T(2)|p.P1142K(2)|p.P1142Q(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGGCTGCTTCCCACCCTCAGAG	0.619																																						uc002top.2																			6	Substitution - Missense(6)		lung(6)	ovary(1)|pancreas(1)	2						c.(3424-3426)CCA>ACA|c.(3424-3426)CCA>CAA		myosin VIIB																																				SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128378018C>A|g.chr2:128378019C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	Exception_encountered	2.37:g.128378018_128378019delinsAA	ENSP00000386461:p.Pro1142Lys					MYO7B_uc002toq.1_5'UTR|MYO7B_uc002tor.1_5'UTR	p.P1142T|p.P1142Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	26	3477|3478	+	Colorectal(110;0.1)		1142			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3424C>A|c.3425C>A	CCDS46405.1																																																																																				PASS	0.619	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		10	20	10	20	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138169226	138169226	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:138169226C>A	ENST00000409968.1	+	14	2921	c.2743C>A	c.(2743-2745)Cta>Ata	p.L915I	THSD7B_ENST00000272643.3_Missense_Mutation_p.L915I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L884I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	915	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.L915I(1)|p.L884I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTTACCCTCTAGTGGAGAC	0.413																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2650-2652)CTA>ATA		thrombospondin, type I, domain containing 7B							140.0	132.0	135.0					2																	138169226		1876	4100	5976	SO:0001583	missense	80731							g.chr2:138169226C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2743C>A	2.37:g.138169226C>A	ENSP00000387145:p.Leu915Ile					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.L774I	p.L884I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2650	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2650C>A		.	.	.	.	.	.	.	.	.	.	C	18.88	3.717239	0.68844	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61859	0.07;0.07;0.07	5.84	4.06	0.47325	.	0.076099	0.53938	D	0.000041	T	0.58878	0.2153	M	0.69358	2.11	0.80722	D	1	P;P	0.51147	0.942;0.85	P;P	0.46208	0.507;0.507	T	0.57843	-0.7741	10	0.35671	T	0.21	.	11.9345	0.52866	0.0:0.812:0.1225:0.0655	.	915;884	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	915;915;884	ENSP00000387145:L915I;ENSP00000272643:L915I;ENSP00000413841:L884I	ENSP00000272643:L915I	L	+	1	2	THSD7B	137885696	1.000000	0.71417	0.507000	0.27676	0.643000	0.38383	4.982000	0.63825	0.830000	0.34757	-0.232000	0.12228	CTA		PASS	0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		14	46	14	46	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152470912	152470913	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:152470912_152470913CC>AA	ENST00000172853.10	-	73	10896_10897	c.10749_10750GG>TT	c.(10747-10752)ctGGcc>ctTTcc	p.A3584S	NEB_ENST00000397345.3_Missense_Mutation_p.A3827S|NEB_ENST00000604864.1_Missense_Mutation_p.A3827S|NEB_ENST00000427231.2_Missense_Mutation_p.A3827S|NEB_ENST00000409198.1_Missense_Mutation_p.A3584S|NEB_ENST00000603639.1_Missense_Mutation_p.A3827S			P20929	NEBU_HUMAN	nebulin	3584					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.A3827S(2)|p.A3584S(2)|p.L3826L(1)|p.L3583L(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)		CACTTCTTGGCCAGCACCACCC	0.525																																						uc010fnx.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10750-10752)GCC>TCC|c.(10747-10749)CTG>CTT		nebulin isoform 3																																				SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152470912C>A|g.chr2:152470913C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10749_10750delinsAA	2.37:g.152470912_152470913delinsAA	ENSP00000172853:p.Ala3584Ser						p.A3584S|p.L3583L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10941|10940	-			3584|3583			Nebulin 98.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation|Silent	SNP	ENST00000172853.10	37	c.10750G>T|c.10749G>T																																																																																					PASS	0.525	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		39|41	117|123	39	117	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159481410	159481410	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:159481410C>A	ENST00000389759.3	+	7	736	c.624C>A	c.(622-624)gcC>gcA	p.A208A	PKP4_ENST00000389757.3_Silent_p.A208A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	208					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.A208A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAATCGGGCCATGAGAAGAG	0.453										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(622-624)GCC>GCA		plakophilin 4 isoform a							140.0	133.0	135.0					2																	159481410		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159481410C>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.624C>A	2.37:g.159481410C>A		HNSCC(62;0.18)				PKP4_uc002tzt.1_Silent_p.A60A|PKP4_uc002tzu.2_Silent_p.A208A|PKP4_uc002tzw.2_Silent_p.A208A|PKP4_uc002tzx.2_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Silent_p.A206A|PKP4_uc002uaa.2_Silent_p.A60A	p.A208A	NM_003628	NP_003619	Q99569	PKP4_HUMAN			7	884	+			208					Q86W91	Silent	SNP	ENST00000389759.3	37	c.624C>A	CCDS33305.1																																																																																				PASS	0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			21	105	21	105	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162890069	162890069	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:162890069G>A	ENST00000360534.3	-	10	1429	c.869C>T	c.(868-870)cCt>cTt	p.P290L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	290					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P290L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CATAGAAGCAGGAGCAGTGAT	0.408																																						uc002ubz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(868-870)CCT>CTT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						148.0	133.0	138.0					2																	162890069		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162890069G>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.869C>T	2.37:g.162890069G>A	ENSP00000353731:p.Pro290Leu					DPP4_uc010fpb.2_5'UTR	p.P290L	NM_001935	NP_001926	P27487	DPP4_HUMAN			10	1430	-			290			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.869C>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	36	5.942677	0.97128	.	.	ENSG00000197635	ENST00000360534	D	0.95588	-3.75	5.49	5.49	0.81192	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.048302	0.85682	D	0.000000	D	0.98055	0.9359	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.98476	1.0603	10	0.87932	D	0	-17.5765	19.5755	0.95441	0.0:0.0:1.0:0.0	.	290	P27487	DPP4_HUMAN	L	290	ENSP00000353731:P290L	ENSP00000353731:P290L	P	-	2	0	DPP4	162598315	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.902000	0.75699	2.865000	0.98341	0.655000	0.94253	CCT		PASS	0.408	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			17	40	17	40	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162890071	162890071	+	Silent	SNP	A	A	G	rs113302553	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:162890071A>G	ENST00000360534.3	-	10	1427	c.867T>C	c.(865-867)gcT>gcC	p.A289A		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	289					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A289A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TAGAAGCAGGAGCAGTGATTT	0.403													A|||	4	0.000798722	0.0023	0.0014	5008	,	,		15280	0.0		0.0	False		,,,				2504	0.0					uc002ubz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(865-867)GCT>GCC		dipeptidylpeptidase IV	Sitagliptin(DB01261)	A		11,4395	17.9+/-39.9	0,11,2192	151.0	136.0	141.0		867	1.8	0.9	2	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous	DPP4	NM_001935.3		0,11,6492	GG,GA,AA		0.0,0.2497,0.0846		289/767	162890071	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162890071A>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.867T>C	2.37:g.162890071A>G						DPP4_uc010fpb.2_5'UTR	p.A289A	NM_001935	NP_001926	P27487	DPP4_HUMAN			10	1428	-			289			Extracellular (Potential).		Q53TN1	Silent	SNP	ENST00000360534.3	37	c.867T>C	CCDS2216.1																																																																																				PASS	0.403	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			17	43	17	43	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166535295	166535295	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:166535295G>T	ENST00000342316.4	+	5	1062	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	CSRNP3_ENST00000409420.1_Missense_Mutation_p.V296F|CSRNP3_ENST00000314499.7_Missense_Mutation_p.V264F	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	264					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V264F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCCTATCCGTGTTCGGACTCA	0.448																																						uc002udf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(790-792)GTT>TTT		cysteine-serine-rich nuclear protein 3							100.0	95.0	97.0					2																	166535295		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535295G>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.790G>T	2.37:g.166535295G>T	ENSP00000344042:p.Val264Phe					CSRNP3_uc002udg.2_Missense_Mutation_p.V264F	p.V264F	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1166	+			264					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.790G>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860795	0.71834	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.59	5.59	0.84812	.	0.117881	0.56097	D	0.000024	T	0.68504	0.3008	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72235	-0.4352	10	0.87932	D	0	-17.5902	18.5751	0.91151	0.0:0.0:1.0:0.0	.	264	Q8WYN3	CSRN3_HUMAN	F	264;271;264;264;296	ENSP00000412081:V264F;ENSP00000318258:V264F;ENSP00000344042:V264F;ENSP00000387195:V296F	ENSP00000318258:V264F	V	+	1	0	CSRNP3	166243541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.624000	0.88883	0.650000	0.86243	GTT		PASS	0.448	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		18	45	18	45	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012824	170012824	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:170012824C>T	ENST00000263816.3	-	65	12396	c.12111G>A	c.(12109-12111)acG>acA	p.T4037T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4037	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.T4037T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTCATAGACGTGAAGCCAT	0.438																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12109-12111)ACG>ACA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						190.0	175.0	180.0					2																	170012824		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012824C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12111G>A	2.37:g.170012824C>T							p.T4037T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12324	-			4037			EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12111G>A	CCDS2232.1																																																																																				PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		7	106	7	106	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178481602	178481602	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:178481602G>T	ENST00000355689.5	-	1	2092	c.1828C>A	c.(1828-1830)Caa>Aaa	p.Q610K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	610					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.Q610K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACACATTCTTGAATAACACTG	0.388																																						uc002ulo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1828-1830)CAA>AAA		tetratricopeptide repeat domain 30A							183.0	176.0	178.0					2																	178481602		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178481602G>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1828C>A	2.37:g.178481602G>T	ENSP00000347915:p.Gln610Lys						p.Q610K	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	2093	-			610					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1828C>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	8.791	0.930520	0.18131	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.17054	2.3	5.83	5.83	0.93111	.	0.153570	0.64402	D	0.000013	T	0.21881	0.0527	L	0.61036	1.89	0.51767	D	0.999939	B	0.18863	0.031	B	0.21360	0.034	T	0.01323	-1.1385	10	0.35671	T	0.21	.	15.6514	0.77099	0.0:0.1365:0.8635:0.0	.	610	Q86WT1	TT30A_HUMAN	K	610;71	ENSP00000347915:Q610K	ENSP00000347915:Q610K	Q	-	1	0	TTC30A	178189848	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	1.428000	0.34892	2.781000	0.95711	0.586000	0.80456	CAA		PASS	0.388	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		11	177	11	177	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179451273	179451273	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:179451273G>T	ENST00000591111.1	-	258	59656	c.59432C>A	c.(59431-59433)cCa>cAa	p.P19811Q	TTN_ENST00000342992.6_Missense_Mutation_p.P18884Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12579Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12512Q|TTN_ENST00000460472.2_Missense_Mutation_p.P12387Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21452Q			Q8WZ42	TITIN_HUMAN	titin	19811	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P18884Q(1)|p.P12387Q(1)|p.P12579Q(1)|p.P12512Q(1)|p.P18882Q(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)			AGCTTCTCTTGGCAAACTGAC	0.383																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(56650-56652)CCA>CAA		titin isoform N2-A							93.0	96.0	95.0					2																	179451273		2009	4192	6201	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451273G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59432C>A	2.37:g.179451273G>T	ENSP00000465570:p.Pro19811Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12579Q|TTN_uc010zfi.1_Missense_Mutation_p.P12512Q|TTN_uc010zfj.1_Missense_Mutation_p.P12387Q	p.P18884Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	56875	-			19811					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.56651C>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554793	0.86231	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.07	6.07	0.98685	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80518	0.4638	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.76494	0.997;0.993;0.993;0.999	D;P;P;D	0.71184	0.959;0.855;0.855;0.972	D	0.83759	0.0213	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	12387;12512;12579;19811	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18884;12387;12579;12512;12385	ENSP00000343764:P18884Q;ENSP00000434586:P12387Q;ENSP00000340554:P12579Q;ENSP00000352154:P12512Q	ENSP00000340554:P12579Q	P	-	2	0	TTN	179159519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	2.884000	0.98904	0.655000	0.94253	CCA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	59	22	59	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179530162	179530162	+	Intron	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:179530162G>A	ENST00000591111.1	-	153	34489				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.V11995V			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TCATTTCAGGGACAACTTCTT	0.358																																						uc010zfk.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(421-423)GTC>GTT		SubName: Full=Titin; Flags: Fragment;							252.0	252.0	252.0					2																	179530162		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179530162G>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.34264+4782C>T	2.37:g.179530162G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.V141V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		10	971	-			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	Silent	SNP	ENST00000591111.1	37	c.423C>T		.	.	.	.	.	.	.	.	.	.	G	2.765	-0.257017	0.05829	.	.	ENSG00000155657	ENST00000425332	.	.	.	5.07	0.109	0.14578	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24870	-1.0148	4	.	.	.	.	3.611	0.08060	0.4475:0.0:0.2888:0.2637	.	.	.	.	F	59	.	.	S	-	2	0	TTN	179238407	0.003000	0.15002	0.089000	0.20774	0.012000	0.07955	0.184000	0.16939	0.115000	0.18071	-1.286000	0.01371	TCC		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	172	11	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604342	179604342	+	Missense_Mutation	SNP	C	C	A	rs201046911		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:179604342C>A	ENST00000591111.1	-	46	12891	c.12667G>T	c.(12667-12669)Gtg>Ttg	p.V4223L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4369L|TTN_ENST00000359218.5_Missense_Mutation_p.V4302L|TTN_ENST00000460472.2_Missense_Mutation_p.V4177L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4540L|TTN-AS1_ENST00000582847.1_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.V4302L(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)			CTACTTTGCACGTTAAAATAA	0.393																																						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.(13105-13107)GTG>TTG		titin isoform novex-2							86.0	86.0	86.0					2																	179604342		1878	4114	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604342C>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.12667G>T	2.37:g.179604342C>A	ENSP00000465570:p.Val4223Leu					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V4302L|TTN_uc010zfj.1_Missense_Mutation_p.V4177L|TTN_uc002umz.1_Intron	p.V4369L	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13329	-			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.13105G>T		.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124060	0.06795	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69561	-0.31;-0.41;-0.41	5.78	3.97	0.46021	.	.	.	.	.	T	0.62551	0.2437	L	0.53249	1.67	0.21220	N	0.999755	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.55848	-0.8076	9	0.87932	D	0	.	11.3484	0.49573	0.0:0.7654:0.108:0.1266	.	4177;4302;4369	D3DPF9;E7EQE6;E7ET18	.;.;.	L	4177;4369;4302;4177	ENSP00000434586:V4177L;ENSP00000340554:V4369L;ENSP00000352154:V4302L	ENSP00000340554:V4369L	V	-	1	0	TTN	179312587	.	.	0.028000	0.17463	0.001000	0.01503	.	.	0.385000	0.24970	-0.797000	0.03246	GTG		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	44	26	44	---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183066250	183066250	+	Silent	SNP	G	G	A	rs375806421		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:183066250G>A	ENST00000410103.1	-	11	1172	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	PDE1A_ENST00000435564.1_Silent_p.H363H|PDE1A_ENST00000351439.5_Silent_p.H347H|PDE1A_ENST00000358139.2_Silent_p.H363H|PDE1A_ENST00000346717.4_Silent_p.H329H|PDE1A_ENST00000409365.1_Silent_p.H347H|PDE1A_ENST00000536095.1_Silent_p.H259H|PDE1A_ENST00000331935.6_Silent_p.H363H|PDE1A_ENST00000456212.1_Silent_p.H363H	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	363	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.H363H(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGTCTGCTGCGTGGAGAATCA	0.463																																						uc002uos.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(1087-1089)CAC>CAT		phosphodiesterase 1A isoform 2							142.0	142.0	142.0					2																	183066250		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183066250G>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1089C>T	2.37:g.183066250G>A						PDE1A_uc010zfp.1_Silent_p.H259H|PDE1A_uc002uoq.1_Silent_p.H363H|PDE1A_uc010zfq.1_Silent_p.H363H|PDE1A_uc002uor.2_Silent_p.H347H|PDE1A_uc002uou.2_Silent_p.H329H	p.H363H	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		11	1173	-			363			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.1089C>T	CCDS33344.1																																																																																				PASS	0.463	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			29	58	29	58	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800724	185800724	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:185800724G>T	ENST00000302277.6	+	4	1195	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	201							metal ion binding (GO:0046872)	p.G201W(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAACCAAGTTGGGGATCAAGC	0.408																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(601-603)GGG>TGG		zinc finger protein 804A							64.0	67.0	66.0					2																	185800724		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800724G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.601G>T	2.37:g.185800724G>T	ENSP00000303252:p.Gly201Trp						p.G201W	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1195	+			201					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.601G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080037	0.55753	.	.	ENSG00000170396	ENST00000302277	T	0.07800	3.16	5.32	3.53	0.40419	.	0.225677	0.31102	N	0.008252	T	0.09686	0.0238	M	0.65975	2.015	0.27170	N	0.960946	P	0.39060	0.657	B	0.31245	0.126	T	0.10965	-1.0607	10	0.87932	D	0	-1.7274	10.6028	0.45377	0.1545:0.0:0.8455:0.0	.	201	Q7Z570	Z804A_HUMAN	W	201	ENSP00000303252:G201W	ENSP00000303252:G201W	G	+	1	0	ZNF804A	185508969	1.000000	0.71417	0.014000	0.15608	0.983000	0.72400	3.772000	0.55325	0.637000	0.30526	0.467000	0.42956	GGG		PASS	0.408	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		21	34	21	34	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802367	185802367	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:185802367G>T	ENST00000302277.6	+	4	2838	c.2244G>T	c.(2242-2244)atG>atT	p.M748I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	748							metal ion binding (GO:0046872)	p.M748I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACACATGAGTCAGAATC	0.333																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2242-2244)ATG>ATT		zinc finger protein 804A							51.0	51.0	51.0					2																	185802367		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802367G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2244G>T	2.37:g.185802367G>T	ENSP00000303252:p.Met748Ile						p.M748I	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2838	+			748					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2244G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196240	0.01594	.	.	ENSG00000170396	ENST00000302277	T	0.05258	3.47	5.7	-1.78	0.07957	.	1.814190	0.02425	N	0.082928	T	0.05640	0.0148	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	10	0.12430	T	0.62	3.1528	6.315	0.21186	0.3782:0.3247:0.297:0.0	.	748	Q7Z570	Z804A_HUMAN	I	748	ENSP00000303252:M748I	ENSP00000303252:M748I	M	+	3	0	ZNF804A	185510612	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-0.485000	0.06520	-0.333000	0.08476	-0.126000	0.14955	ATG		PASS	0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		13	30	13	30	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189901518	189901518	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:189901518T>C	ENST00000374866.3	-	52	4211	c.3937A>G	c.(3937-3939)Att>Gtt	p.I1313V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1313	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.I1313V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTAGGATCAATCCAGTATTCA	0.338																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3937-3939)ATT>GTT		alpha 2 type V collagen preproprotein							69.0	64.0	66.0					2																	189901518		2202	4299	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189901518T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3937A>G	2.37:g.189901518T>C	ENSP00000364000:p.Ile1313Val					COL5A2_uc010frx.2_Missense_Mutation_p.I889V	p.I1313V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		52	4212	-			1313			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3937A>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.257063	0.39896	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74526	-0.85	5.18	5.18	0.71444	Fibrillar collagen, C-terminal (3);	0.000000	0.47852	D	0.000208	T	0.68016	0.2955	L	0.43646	1.37	0.47009	D	0.999287	B;B	0.13594	0.001;0.008	B;B	0.16289	0.008;0.015	T	0.64275	-0.6446	10	0.40728	T	0.16	.	15.016	0.71584	0.0:0.0:0.0:1.0	.	953;1313	Q5PR22;P05997	.;CO5A2_HUMAN	V	1313;953	ENSP00000364000:I1313V	ENSP00000364000:I1313V	I	-	1	0	COL5A2	189609763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.948000	0.56530	0.482000	0.46254	ATT		PASS	0.338	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		10	10	10	10	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190728610	190728610	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:190728610C>A	ENST00000441310.2	+	10	2231	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q	PMS1_ENST00000418224.3_Missense_Mutation_p.H490Q|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Missense_Mutation_p.H490Q|PMS1_ENST00000409823.3_Missense_Mutation_p.H627Q	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	666					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.H666Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCCAGAAGCACAAGTTAAAAA	0.373			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1996-1998)CAC>CAA	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							104.0	111.0	109.0					2																	190728610		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728610C>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1998C>A	2.37:g.190728610C>A	ENSP00000406490:p.His666Gln					PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.H605Q|PMS1_uc002urk.3_Missense_Mutation_p.H627Q|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.H490Q|PMS1_uc010zgd.1_Missense_Mutation_p.H490Q|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.H627Q|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.H334Q	p.H666Q	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2527	+			666					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1998C>A	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	5.918	0.353382	0.11182	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.86030	2.01;2.01;2.01;2.01;-2.06;2.05	5.36	2.49	0.30216	.	0.563322	0.21565	N	0.072511	T	0.75925	0.3916	L	0.50919	1.6	0.26657	N	0.971986	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.56842	-0.7912	10	0.12766	T	0.61	-0.208	6.0976	0.20028	0.2646:0.5957:0.0:0.1397	.	666;627;627;666	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	Q	490;666;490;627;490;605;54	ENSP00000406490:H666Q;ENSP00000404492:H490Q;ENSP00000387125:H627Q;ENSP00000398378:H490Q;ENSP00000389938:H605Q;ENSP00000396232:H54Q	ENSP00000376149:H490Q	H	+	3	2	PMS1	190436855	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	1.101000	0.31037	0.357000	0.24183	0.644000	0.83932	CAC		PASS	0.373	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			20	45	20	45	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202900498	202900498	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:202900498C>A	ENST00000286201.1	+	1	1189	c.1128C>A	c.(1126-1128)gcC>gcA	p.A376A	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	376					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A376A(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCATCGAGGCCAACTCGCAGT	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1126-1128)GCC>GCA		frizzled 7 precursor							63.0	64.0	63.0					2																	202900498		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900498C>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1128C>A	2.37:g.202900498C>A			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A376A	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1189	+			376			Cytoplasmic (Potential).		O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1128C>A	CCDS2351.1																																																																																				PASS	0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		5	53	5	53	---	---	---	---
CTLA4	1493	broad.mit.edu	37	2	204732710	204732710	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:204732710G>T	ENST00000302823.3	+	1	202	c.45G>T	c.(43-45)ctG>ctT	p.L15L	CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000427473.2_5'Flank|CTLA4_ENST00000295854.6_Silent_p.L15L|CTLA4_ENST00000472206.1_Silent_p.L15L	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	15					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.L15L(1)		large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	AGCTGAACCTGGCTACCAGGA	0.512																																						uc002vak.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)CTG>CTT		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						150.0	130.0	137.0					2																	204732710		2203	4300	6503	SO:0001819	synonymous_variant	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204732710G>T		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.45G>T	2.37:g.204732710G>T						CTLA4_uc002val.1_Silent_p.L15L|CTLA4_uc010fty.1_Silent_p.L15L|CTLA4_uc010ftz.1_RNA	p.L15L	NM_005214	NP_005205	P16410	CTLA4_HUMAN			1	202	+			15					A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Silent	SNP	ENST00000302823.3	37	c.45G>T	CCDS2362.1																																																																																				PASS	0.512	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		11	26	11	26	---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207615680	207615680	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:207615680C>G	ENST00000374412.3	-	6	1305	c.1030G>C	c.(1030-1032)Gtt>Ctt	p.V344L	MDH1B_ENST00000449792.1_Missense_Mutation_p.V246L|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V344L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	344					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.V344L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAGTTTAAAACAGGGCGTGAA	0.333																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1030-1032)GTT>CTT		malate dehydrogenase 1B, NAD (soluble)							88.0	89.0	89.0					2																	207615680		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615680C>G		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1030G>C	2.37:g.207615680C>G	ENSP00000363533:p.Val344Leu					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.V344L|MDH1B_uc010fuj.2_Missense_Mutation_p.V246L|MDH1B_uc002vbt.2_Intron	p.V344L	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1085	-			344					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1030G>C	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.081399	0.01888	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.66280	-0.2;-0.2;-0.2	5.97	0.908	0.19326	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.555590	0.18921	N	0.127494	T	0.43875	0.1267	L	0.32530	0.975	0.23271	N	0.998001	B;B	0.06786	0.0;0.001	B;B	0.14578	0.002;0.011	T	0.21008	-1.0258	10	0.20519	T	0.43	-15.3026	6.9044	0.24301	0.1243:0.3921:0.4123:0.0714	.	344;344	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	344;246;344	ENSP00000363533:V344L;ENSP00000416577:V246L;ENSP00000389916:V344L	ENSP00000363533:V344L	V	-	1	0	MDH1B	207323925	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-0.866000	0.04245	0.132000	0.18615	-0.865000	0.03005	GTT		PASS	0.333	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		13	43	13	43	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219360482	219360482	+	Splice_Site	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:219360482C>T	ENST00000258399.3	-	14	1885		c.e14+1		USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACACTACTTACGCTTTACAAA	0.343																																						uc002vie.2																			1	Unknown(1)		lung(1)	skin(3)|ovary(1)|prostate(1)	5						c.e14+1		ubiquitin specific peptidase 37							88.0	86.0	86.0					2																	219360482		2203	4300	6503	SO:0001630	splice_region_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219360482C>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1472+1G>A	2.37:g.219360482C>T						USP37_uc010fvs.1_Splice_Site_p.A491_splice|USP37_uc010zkf.1_Splice_Site_p.A491_splice|USP37_uc002vif.2_Splice_Site_p.A491_splice|USP37_uc002vig.2_Splice_Site_p.A419_splice	p.A491_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	14	1925	-		Renal(207;0.0915)						A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37	c.1472_splice	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569894	0.86542	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219068726	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.449000	0.80643	2.664000	0.90586	0.591000	0.81541	.		PASS	0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Intron	12	27	12	27	---	---	---	---
DES	1674	broad.mit.edu	37	2	220285264	220285264	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr2:220285264G>A	ENST00000373960.3	+	4	869	c.783G>A	c.(781-783)gtG>gtA	p.V261V		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	261	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.V261V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGTCCAGGTGGAGATGGACA	0.582																																						uc002vll.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(781-783)GTG>GTA		desmin							65.0	59.0	61.0					2																	220285264		2203	4300	6503	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220285264G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.783G>A	2.37:g.220285264G>A							p.V261V	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	869	+		Renal(207;0.0183)	261			Rod.|Linker 12.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.783G>A	CCDS33383.1																																																																																				PASS	0.582	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		7	18	7	18	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4715954	4715954	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:4715954A>C	ENST00000443694.2	+	19	2480	c.2480A>C	c.(2479-2481)gAg>gCg	p.E827A	ITPR1_ENST00000354582.6_Missense_Mutation_p.E842A|ITPR1_ENST00000302640.8_Missense_Mutation_p.E827A|ITPR1_ENST00000357086.4_Missense_Mutation_p.E842A|ITPR1_ENST00000456211.2_Missense_Mutation_p.E827A|ITPR1_ENST00000423119.2_Missense_Mutation_p.E842A|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	842					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E827A(2)|p.E842A(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GAGTTTGTGGAGGAGTATTTA	0.373																																						uc003bqa.2																			3	Substitution - Missense(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(2524-2526)GAG>GCG		inositol 1,4,5-triphosphate receptor, type 1							158.0	151.0	153.0					3																	4715954		1833	4080	5913	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715954A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2480A>C	3.37:g.4715954A>C	ENSP00000401671:p.Glu827Ala					ITPR1_uc010hca.1_Missense_Mutation_p.E827A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E827A	p.E842A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	22	2873	+			842			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2525A>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794395	0.90453	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92099	-2.96;-2.97;-2.96;-2.96;-2.96;-2.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.85462	2.755	0.80722	D	1	D;D;D	0.71674	0.985;0.986;0.998	P;P;D	0.72982	0.867;0.9;0.979	D	0.94819	0.7985	10	0.23302	T	0.38	.	15.7832	0.78281	1.0:0.0:0.0:0.0	.	827;842;842	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	A	842;827;842;842;842;827;827	ENSP00000306253:E827A;ENSP00000346595:E842A;ENSP00000405934:E842A;ENSP00000349597:E842A;ENSP00000397885:E827A;ENSP00000401671:E827A	ENSP00000306253:E827A	E	+	2	0	ITPR1	4690954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.676000	0.91199	2.302000	0.77476	0.533000	0.62120	GAG		PASS	0.373	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	1	4	1	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35763327	35763327	+	Splice_Site	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:35763327G>T	ENST00000187397.4	+	14	1681		c.e14+1		ARPP21_ENST00000337271.5_Splice_Site|ARPP21_ENST00000458225.1_Splice_Site|ARPP21_ENST00000444190.1_Splice_Site|ARPP21_ENST00000417925.1_Splice_Site	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCAAAGCAGGTAGTTAGTAC	0.493																																						uc003cgb.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e14+1		cyclic AMP-regulated phosphoprotein, 21 kD							25.0	22.0	23.0					3																	35763327		2203	4298	6501	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35763327G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1225+1G>T	3.37:g.35763327G>T						ARPP21_uc003cga.2_Splice_Site_p.G355_splice|ARPP21_uc011axy.1_Splice_Site_p.G375_splice|ARPP21_uc003cgf.2_Splice_Site_p.G210_splice|ARPP21_uc003cgg.2_Splice_Site	p.G409_splice	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			14	1489	+								B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Splice_Site	SNP	ENST00000187397.4	37	c.1225_splice	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441161	0.83993	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925;ENST00000425289	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPP21	35738331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.324000	0.96373	2.725000	0.93324	0.655000	0.94253	.		PASS	0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Intron	4	5	4	5	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38620970	38620970	+	Missense_Mutation	SNP	A	A	C	rs199473189		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:38620970A>C	ENST00000333535.4	-	18	3394	c.3245T>G	c.(3244-3246)gTg>gGg	p.V1082G	SCN5A_ENST00000413689.1_Missense_Mutation_p.V1082G|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1081G|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1081G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1082G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1082G|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1081G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1082					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.V1082G(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCACCGGACACAGGCTGGGA	0.652																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3244-3246)GTG>GGG		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						16.0	19.0	18.0					3																	38620970		2011	4171	6182	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38620970A>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3245T>G	3.37:g.38620970A>C	ENSP00000328968:p.Val1082Gly					SCN5A_uc003cin.2_Missense_Mutation_p.V1081G|SCN5A_uc003cil.3_Missense_Mutation_p.V1082G|SCN5A_uc010hhi.2_Missense_Mutation_p.V1082G|SCN5A_uc010hhk.2_Missense_Mutation_p.V1081G|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhj.1_Missense_Mutation_p.V692G	p.V1082G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	18	3439	-	Medulloblastoma(35;0.163)		1082					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3245T>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	A	8.726	0.915464	0.17907	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624	D;D;D;D;D;D;D	0.95980	-3.8;-3.81;-3.82;-3.81;-3.8;-3.83;-3.87	4.42	3.27	0.37495	Sodium ion transport-associated (1);	1.686470	0.02975	N	0.144865	D	0.93429	0.7904	L	0.42245	1.32	0.49687	D	0.99981	B;B;B;B;B;B	0.22414	0.025;0.069;0.025;0.025;0.01;0.02	B;B;B;B;B;B	0.27715	0.057;0.082;0.057;0.057;0.014;0.034	T	0.82651	-0.0352	10	0.54805	T	0.06	.	6.7975	0.23732	0.8967:0.0:0.1033:0.0	.	1081;1082;1082;1082;1081;1082	E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	G	1082;1081;1082;1081;1082;1082;1081	ENSP00000398962:V1082G;ENSP00000398266:V1081G;ENSP00000410257:V1082G;ENSP00000397915:V1081G;ENSP00000416634:V1082G;ENSP00000328968:V1082G;ENSP00000399524:V1081G	ENSP00000328968:V1082G	V	-	2	0	SCN5A	38595974	0.932000	0.31603	0.672000	0.29872	0.843000	0.47879	1.791000	0.38744	1.030000	0.39839	0.533000	0.62120	GTG		PASS	0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	2	9	2	---	---	---	---
TCTA	6988	broad.mit.edu	37	3	49449953	49449953	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:49449953C>A	ENST00000273590.3	+	1	315	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000454011.2_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	32						integral component of membrane (GO:0016021)		p.Q32K(1)		large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGGAGGCGCAGGACATGCG	0.652																																						uc003cwv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)CAG>AAG		T-cell leukemia translocation altered							102.0	108.0	106.0					3																	49449953		2203	4300	6503	SO:0001583	missense	6988					integral to membrane		g.chr3:49449953C>A		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.94C>A	3.37:g.49449953C>A	ENSP00000273590:p.Gln32Lys					RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	p.Q32K	NM_022171	NP_071503	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	315	+			32			Cytoplasmic (Potential).		B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	c.94C>A	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425076	0.83667	.	.	ENSG00000145022	ENST00000273590	.	.	.	5.18	5.18	0.71444	.	0.175932	0.49305	D	0.000156	T	0.55955	0.1953	N	0.19112	0.55	0.34523	D	0.708414	P	0.52577	0.954	D	0.65140	0.932	T	0.64803	-0.6321	9	0.44086	T	0.13	-19.3014	14.0669	0.64837	0.0:1.0:0.0:0.0	.	32	P57738	TCTA_HUMAN	K	32	.	ENSP00000273590:Q32K	Q	+	1	0	TCTA	49424957	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	2.737000	0.47393	2.695000	0.91970	0.555000	0.69702	CAG		PASS	0.652	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		18	36	18	36	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108133140	108133140	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:108133140G>T	ENST00000273353.3	-	31	4200	c.4144C>A	c.(4144-4146)Caa>Aaa	p.Q1382K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1382						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1382K(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						ATTCTCCATTGCACCATTTCA	0.468																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(4144-4146)CAA>AAA		myosin, heavy polypeptide 15							182.0	174.0	177.0					3																	108133140		2032	4190	6222	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108133140G>T	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.4144C>A	3.37:g.108133140G>T	ENSP00000273353:p.Gln1382Lys						p.Q1382K	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			31	4201	-			1382			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.4144C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657789	0.67586	.	.	ENSG00000144821	ENST00000273353	T	0.79247	-1.25	5.39	2.38	0.29361	Myosin tail (1);	.	.	.	.	T	0.74566	0.3733	M	0.70787	2.145	0.31933	N	0.611933	B	0.17852	0.024	B	0.24006	0.05	T	0.72265	-0.4344	9	0.62326	D	0.03	.	7.4763	0.27378	0.0792:0.0:0.4733:0.4475	.	1382	Q9Y2K3	MYH15_HUMAN	K	1382	ENSP00000273353:Q1382K	ENSP00000273353:Q1382K	Q	-	1	0	MYH15	109615830	1.000000	0.71417	0.001000	0.08648	0.774000	0.43823	4.370000	0.59517	0.246000	0.21394	0.655000	0.94253	CAA		PASS	0.468	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		9	55	9	55	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109026974	109026974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:109026974G>T	ENST00000478945.1	-	6	809	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	188					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.S188*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTGCCCATGATGCCAACAT	0.453																																						uc003dxo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(562-564)TCA>TAA		developmental pluripotency associated 2							150.0	135.0	140.0					3																	109026974		2203	4300	6503	SO:0001587	stop_gained	151871					nucleus	nucleic acid binding	g.chr3:109026974G>T	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.563C>A	3.37:g.109026974G>T	ENSP00000417710:p.Ser188*						p.S188*	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	810	-			188					Q8WVF0	Nonsense_Mutation	SNP	ENST00000478945.1	37	c.563C>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700135	0.96802	.	.	ENSG00000163530	ENST00000478945	.	.	.	4.43	4.43	0.53597	.	0.398213	0.21768	N	0.069413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8035	12.8711	0.57965	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000417710:S188X	S	-	2	0	DPPA2	110509664	0.332000	0.24722	0.923000	0.36655	0.550000	0.35303	3.593000	0.54001	2.759000	0.94783	0.555000	0.69702	TCA		PASS	0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		26	84	26	84	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109052821	109052821	+	Nonsense_Mutation	SNP	G	G	T	rs267599538		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:109052821G>T	ENST00000335658.6	-	2	128	c.74C>A	c.(73-75)tCg>tAg	p.S25*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	25					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S25*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTCTTCCCTCGACTTCTCTGT	0.458																																						uc003dxq.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(73-75)TCG>TAG		developmental pluripotency associated 4							109.0	99.0	102.0					3																	109052821		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109052821G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.74C>A	3.37:g.109052821G>T	ENSP00000335306:p.Ser25*					DPPA4_uc011bho.1_Nonsense_Mutation_p.S25*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S25*	p.S25*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			2	129	-			25					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.74C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585926	0.46110	.	.	ENSG00000121570	ENST00000335658	.	.	.	3.54	2.66	0.31614	.	26.089100	0.00424	N	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3487	6.672	0.23074	0.1285:0.0:0.8715:0.0	.	.	.	.	X	25	.	.	S	-	2	0	DPPA4	110535511	0.074000	0.21230	0.001000	0.08648	0.007000	0.05969	0.724000	0.25954	1.070000	0.40811	0.551000	0.68910	TCG		PASS	0.458	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		11	49	11	49	---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110852644	110852644	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:110852644G>T	ENST00000485303.1	+	6	1507	c.1232G>T	c.(1231-1233)gGt>gTt	p.G411V	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	411					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.G411V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGTGTAGTGGGTGGGGCTCTC	0.428																																						uc003dxt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(1231-1233)GGT>GTT		poliovirus receptor-related 3 precursor							178.0	175.0	176.0					3																	110852644		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852644G>T	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1232G>T	3.37:g.110852644G>T	ENSP00000418070:p.Gly411Val					PVRL3_uc003dxu.1_Intron	p.G411V	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			6	1232	+			411			Helical; (Potential).		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.1232G>T	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412044	0.62511	.	.	ENSG00000177707	ENST00000485303	T	0.37411	1.2	5.76	5.76	0.90799	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59375	-0.7466	10	0.56958	D	0.05	.	17.4703	0.87645	0.0:0.0:1.0:0.0	.	411	Q9NQS3	PVRL3_HUMAN	V	411	ENSP00000418070:G411V	ENSP00000418070:G411V	G	+	2	0	PVRL3	112335334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.556000	0.90697	2.733000	0.93635	0.467000	0.42956	GGT		PASS	0.428	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		32	98	32	98	---	---	---	---
RABL3	285282	broad.mit.edu	37	3	120461343	120461343	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:120461343C>A	ENST00000273375.3	-	1	41	c.12G>T	c.(10-12)ctG>ctT	p.L4L	RABL3_ENST00000491398.1_5'UTR|GTF2E1_ENST00000283875.5_5'Flank|RABL3_ENST00000483733.1_Silent_p.L4L	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	4	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.L4L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TCACCCGATCCAGGGACGCCA	0.547																																						uc003edx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)CTG>CTT		RAB, member of RAS oncogene family-like 3							132.0	105.0	114.0					3																	120461343		2203	4300	6503	SO:0001819	synonymous_variant	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120461343C>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.12G>T	3.37:g.120461343C>A						GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank	p.L4L	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	1	42	-			4			Small GTPase-like.		Q8WUD3	Silent	SNP	ENST00000273375.3	37	c.12G>T	CCDS3001.1																																																																																				PASS	0.547	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		12	38	12	38	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123166580	123166580	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:123166580C>A	ENST00000462833.1	-	1	2025	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	271					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L271L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGCACGGCCAGGTAGGGCA	0.687																																						uc003egh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(811-813)CTG>CTT		adenylate cyclase 5							16.0	20.0	18.0					3																	123166580		2168	4227	6395	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166580C>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.813G>T	3.37:g.123166580C>A							p.L271L	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	813	-			271			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.813G>T	CCDS3022.1																																																																																				PASS	0.687	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		8	26	8	26	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124397053	124397053	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:124397053C>A	ENST00000462213.1	+	2	285	c.61C>A	c.(61-63)Cat>Aat	p.H21N	KALRN_ENST00000428018.2_Missense_Mutation_p.H675N|KALRN_ENST00000291478.5_Missense_Mutation_p.H707N|KALRN_ENST00000360013.3_Missense_Mutation_p.H2404N			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2403					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H2404N(1)|p.H707N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTTCATGGCATACTCTACG	0.517																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7210-7212)CAT>AAT		kalirin, RhoGEF kinase isoform 1							151.0	147.0	149.0					3																	124397053		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124397053C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.61C>A	3.37:g.124397053C>A	ENSP00000418790:p.His21Asn					KALRN_uc003ehk.2_Missense_Mutation_p.H707N	p.H2404N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			50	7337	+			2403					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7210C>A		.	.	.	.	.	.	.	.	.	.	C	15.13	2.742309	0.49151	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.59906	0.23;0.55;0.55;0.55	5.5	5.5	0.81552	.	0.059707	0.64402	D	0.000002	T	0.40546	0.1121	N	0.11560	0.145	0.40346	D	0.979085	B;B	0.15141	0.012;0.001	B;B	0.09377	0.004;0.001	T	0.24693	-1.0153	10	0.17369	T	0.5	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	707;2403	C9JQ37;O60229	.;KALRN_HUMAN	N	2404;707;675;21	ENSP00000353109:H2404N;ENSP00000291478:H707N;ENSP00000402419:H675N;ENSP00000418790:H21N	ENSP00000291478:H707N	H	+	1	0	KALRN	125879743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.408000	0.66368	2.861000	0.98227	0.655000	0.94253	CAT		PASS	0.517	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		28	88	28	88	---	---	---	---
GP9	2815	broad.mit.edu	37	3	128780703	128780703	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:128780703C>A	ENST00000307395.4	+	3	343	c.121C>A	c.(121-123)Cac>Aac	p.H41N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.H41N(1)		NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGGGCCACGGACTCAC	0.692																																						uc003elm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CAC>AAC		glycoprotein IX (platelet) precursor	Quinine(DB00468)						25.0	24.0	24.0					3																	128780703		2199	4299	6498	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780703C>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.121C>A	3.37:g.128780703C>A	ENSP00000303942:p.His41Asn						p.H41N	NM_000174	NP_000165	P14770	GPIX_HUMAN			3	308	+			41			Extracellular (Potential).|LRRNT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.121C>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	C	3.625	-0.076648	0.07184	.	.	ENSG00000169704	ENST00000307395	D	0.96265	-3.96	4.17	3.2	0.36748	Leucine-rich repeat-containing N-terminal (2);	1.117090	0.07021	U	0.826783	D	0.90280	0.6960	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.82250	-0.0550	10	0.44086	T	0.13	-11.5287	8.5635	0.33525	0.3498:0.6502:0.0:0.0	.	41	P14770	GPIX_HUMAN	N	41	ENSP00000303942:H41N	ENSP00000303942:H41N	H	+	1	0	GP9	130263393	0.047000	0.20315	0.007000	0.13788	0.011000	0.07611	2.802000	0.47916	2.120000	0.65058	0.462000	0.41574	CAC		PASS	0.692	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			3	15	3	15	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134277097	134277097	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:134277097G>T	ENST00000337090.3	+	13	1754	c.1581G>T	c.(1579-1581)ctG>ctT	p.L527L	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Silent_p.L527L|CEP63_ENST00000513612.2_Silent_p.L527L|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	527					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.L527L(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATCTCAGCTGGAGATTTCTA	0.343																																						uc003eqo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1579-1581)CTG>CTT		centrosomal protein 63 isoform a							64.0	69.0	67.0					3																	134277097		2203	4297	6500	SO:0001819	synonymous_variant	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277097G>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1581G>T	3.37:g.134277097G>T						CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.L527L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			14	2030	+			527			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	c.1581G>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	7.765	0.706155	0.15239	.	.	ENSG00000182923	ENST00000504929	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.71443	0.3340	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69461	-0.5139	4	.	.	.	-7.9439	15.7294	0.77790	0.0:0.0:1.0:0.0	.	.	.	.	L	216	.	.	W	+	2	0	CEP63	135759787	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.692000	0.47018	2.775000	0.95449	0.467000	0.42956	TGG		PASS	0.343	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		17	75	17	75	---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136664723	136664723	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:136664723G>T	ENST00000481752.1	+	3	689	c.525G>T	c.(523-525)ctG>ctT	p.L175L	NCK1_ENST00000469404.1_Silent_p.L111L|NCK1_ENST00000288986.2_Silent_p.L175L			P16333	NCK1_HUMAN	NCK adaptor protein 1	175					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)	p.L175L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGGGTTCTCTGTCAGAGAAAT	0.458																																						uc003erh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(523-525)CTG>CTT		NCK adaptor protein 1							212.0	206.0	208.0					3																	136664723		2203	4300	6503	SO:0001819	synonymous_variant	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664723G>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.525G>T	3.37:g.136664723G>T						NCK1_uc011bme.1_Silent_p.L111L	p.L175L	NM_006153	NP_006144	P16333	NCK1_HUMAN			3	632	+			175					B7Z751|D3DNE3	Silent	SNP	ENST00000481752.1	37	c.525G>T	CCDS3092.1																																																																																				PASS	0.458	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		39	151	39	151	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137843495	137843495	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:137843495C>A	ENST00000236709.3	-	3	835	c.634G>T	c.(634-636)Gtt>Ttt	p.V212F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	212					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.V212F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TAGTGTTCAACAAAGTTTTCC	0.473																																						uc003ers.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)GTT>TTT		alpha-1,4-N-acetylglucosaminyltransferase							85.0	94.0	91.0					3																	137843495		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843495C>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.634G>T	3.37:g.137843495C>A	ENSP00000236709:p.Val212Phe						p.V212F	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	836	-			212			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.634G>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774042	0.49786	.	.	ENSG00000118017	ENST00000236709	T	0.73258	-0.73	4.76	2.58	0.30949	Alpha 1,4-glycosyltransferase domain (1);	0.192697	0.34555	N	0.003877	D	0.83792	0.5331	M	0.88310	2.945	0.37931	D	0.932006	D	0.63880	0.993	D	0.67900	0.954	D	0.87005	0.2119	10	0.54805	T	0.06	-13.7621	11.9077	0.52721	0.0:0.8289:0.0:0.1711	.	212	Q9UNA3	A4GCT_HUMAN	F	212	ENSP00000236709:V212F	ENSP00000236709:V212F	V	-	1	0	A4GNT	139326185	0.999000	0.42202	0.943000	0.38184	0.674000	0.39518	2.761000	0.47589	1.003000	0.39130	-0.253000	0.11424	GTT		PASS	0.473	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		31	93	31	93	---	---	---	---
TM4SF1	4071	broad.mit.edu	37	3	149095211	149095211	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:149095211G>T	ENST00000305366.3	-	1	441	c.124C>A	c.(124-126)Cac>Aac	p.H42N	TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1_ENST00000472441.1_5'Flank|TM4SF1-AS1_ENST00000484046.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	42						integral component of plasma membrane (GO:0005887)		p.H42N(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGGCTGAGGTGGTTTTCGGAG	0.493																																						uc003exb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CAC>AAC		transmembrane 4 superfamily member 1							82.0	73.0	76.0					3																	149095211		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149095211G>T	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.124C>A	3.37:g.149095211G>T	ENSP00000304277:p.His42Asn					TM4SF1_uc003exc.1_5'Flank	p.H42N	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	358	-			42			Extracellular (Probable).		Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.124C>A	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888739	0.52014	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	T	0.29397	1.57	5.5	4.61	0.57282	.	0.228768	0.37304	N	0.002151	T	0.32041	0.0816	L	0.56199	1.76	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.06006	-1.0851	10	0.36615	T	0.2	-16.6054	15.4757	0.75478	0.0:0.0:0.8603:0.1397	.	42	P30408	T4S1_HUMAN	N	42	ENSP00000304277:H42N	ENSP00000304277:H42N	H	-	1	0	TM4SF1	150577901	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	4.794000	0.62482	1.281000	0.44480	0.655000	0.94253	CAC		PASS	0.493	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			18	25	18	25	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157188205	157188205	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:157188205C>A	ENST00000362010.2	-	3	559	c.252G>T	c.(250-252)ggG>ggT	p.G84G	VEPH1_ENST00000537559.1_Silent_p.G84G|VEPH1_ENST00000543418.1_Silent_p.G84G|VEPH1_ENST00000468233.1_Silent_p.G84G|VEPH1_ENST00000494677.1_Silent_p.G84G|VEPH1_ENST00000392833.2_Silent_p.G84G|VEPH1_ENST00000392832.2_Silent_p.G84G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	84						plasma membrane (GO:0005886)		p.G84G(2)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTCCCAGAGCCCCACAAGGG	0.453																																						uc003fbj.1																			2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)|lung(1)	5						c.(250-252)GGG>GGT		ventricular zone expressed PH domain homolog 1							151.0	142.0	145.0					3																	157188205		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157188205C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.252G>T	3.37:g.157188205C>A						VEPH1_uc003fbk.1_Silent_p.G84G|VEPH1_uc010hvu.1_Silent_p.G84G|VEPH1_uc003fbm.2_Silent_p.G84G|VEPH1_uc003fbn.2_Silent_p.G84G	p.G84G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	569	-			84					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.252G>T	CCDS3179.1																																																																																				PASS	0.453	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		7	139	7	139	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179592165	179592165	+	Missense_Mutation	SNP	C	C	T	rs146906651		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:179592165C>T	ENST00000467460.1	-	7	1006	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	PEX5L_ENST00000465751.1_Missense_Mutation_p.A202T|PEX5L_ENST00000464614.1_Missense_Mutation_p.A118T|PEX5L_ENST00000485199.1_Missense_Mutation_p.A191T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A167T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A183T|PEX5L_ENST00000392649.3_Missense_Mutation_p.A118T|PEX5L_ENST00000468741.1_Missense_Mutation_p.A34T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A224T|PEX5L-AS1_ENST00000466064.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	226			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.A226T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAGTTGAGGGCGCTTTTTCCA	0.393																																						uc003fki.1																			2	Substitution - Missense(2)	p.A226T(1)	large_intestine(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(676-678)GCC>ACC		peroxisomal biogenesis factor 5-like		C	THR/ALA	0,4406		0,0,2203	118.0	115.0	116.0		676	3.8	1.0	3	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEX5L	NM_016559.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	226/627	179592165	1,13005	2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592165C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.676G>A	3.37:g.179592165C>T	ENSP00000419975:p.Ala226Thr					PEX5L_uc011bqd.1_Missense_Mutation_p.A183T|PEX5L_uc011bqe.1_Missense_Mutation_p.A34T|PEX5L_uc011bqf.1_Missense_Mutation_p.A118T|PEX5L_uc003fkj.1_Missense_Mutation_p.A191T|PEX5L_uc010hxd.1_Missense_Mutation_p.A224T|PEX5L_uc011bqg.1_Missense_Mutation_p.A202T|PEX5L_uc011bqh.1_Missense_Mutation_p.A167T	p.A226T	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	806	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		226		A -> T (in a colorectal cancer sample; somatic mutation).			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.676G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053916	0.36277	0.0	1.16E-4	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640	D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.3;-2.31;-2.29;-2.3;-2.31;-2.31;-2.31	5.55	3.77	0.43336	.	0.374471	0.27495	N	0.019119	T	0.72415	0.3457	N	0.04959	-0.14	0.32709	N	0.51182	B;B;B;B;B;B	0.21147	0.01;0.004;0.052;0.03;0.03;0.017	B;B;B;B;B;B	0.12837	0.002;0.001;0.003;0.004;0.008;0.003	T	0.71705	-0.4512	10	0.48119	T	0.1	-4.6947	10.0214	0.42046	0.0:0.7831:0.0:0.2169	.	167;202;118;224;191;226	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	T	226;224;191;224;118;34;183;114;167;118;202;34;34	ENSP00000419975:A226T;ENSP00000263962:A224T;ENSP00000418440:A191T;ENSP00000376420:A118T;ENSP00000418665:A34T;ENSP00000420555:A183T;ENSP00000418054:A167T;ENSP00000417270:A118T;ENSP00000419348:A202T	ENSP00000263962:A224T	A	-	1	0	PEX5L	181074859	0.936000	0.31750	0.989000	0.46669	0.974000	0.67602	1.662000	0.37418	0.835000	0.34877	0.650000	0.86243	GCC		PASS	0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		11	60	11	60	---	---	---	---
APOD	347	broad.mit.edu	37	3	195295819	195295819	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr3:195295819G>T	ENST00000343267.3	-	5	883	c.522C>A	c.(520-522)gtC>gtA	p.V174V		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	174					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)	p.V174V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATTTTCTTGACATCAATGT	0.458																																						uc003fur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(520-522)GTC>GTA		apolipoprotein D precursor							158.0	155.0	156.0					3																	195295819		2203	4300	6503	SO:0001819	synonymous_variant	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195295819G>T		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.522C>A	3.37:g.195295819G>T							p.V174V	NM_001647	NP_001638	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	5	884	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	174					B2R579|D3DNW6|Q6IBG6	Silent	SNP	ENST00000343267.3	37	c.522C>A	CCDS33925.1																																																																																				PASS	0.458	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		7	144	7	144	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47163480	47163480	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:47163480G>T	ENST00000295454.3	+	4	747	c.455G>T	c.(454-456)gGa>gTa	p.G152V	GABRB1_ENST00000538619.1_Missense_Mutation_p.G82V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	152					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.G152V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTCTCTATGGACTCCGGTAA	0.388																																						uc003gxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(454-456)GGA>GTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						124.0	113.0	116.0					4																	47163480		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163480G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.455G>T	4.37:g.47163480G>T	ENSP00000295454:p.Gly152Val					GABRB1_uc011bze.1_Missense_Mutation_p.G82V	p.G152V	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	829	+			152			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.455G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616328	0.87359	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78364	-1.17;-1.17	4.8	4.8	0.61643	Neurotransmitter-gated ion-channel ligand-binding (3);	0.153158	0.42420	D	0.000708	D	0.88295	0.6398	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88814	0.3294	9	.	.	.	-6.6381	17.0222	0.86437	0.0:0.0:1.0:0.0	.	82;152	F5GXV5;P18505	.;GBRB1_HUMAN	V	152;82	ENSP00000295454:G152V;ENSP00000440330:G82V	.	G	+	2	0	GABRB1	46858237	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.652000	0.98499	2.475000	0.83589	0.555000	0.69702	GGA		PASS	0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			34	26	34	26	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47584003	47584003	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:47584003C>G	ENST00000273859.3	+	21	3944	c.3675C>G	c.(3673-3675)atC>atG	p.I1225M	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1225					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.I1225M(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						ATACTGACATCTTTGCATTTG	0.468																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3673-3675)ATC>ATG		ATPase, class V, type 10D							235.0	210.0	219.0					4																	47584003		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.chr4:47584003C>G	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.3675C>G	4.37:g.47584003C>G	ENSP00000273859:p.Ile1225Met					ATP10D_uc003gxl.1_Missense_Mutation_p.I473M	p.I1225M	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			21	3839	+			1225			Helical; (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3675C>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162024	0.09287	.	.	ENSG00000145246	ENST00000273859	T	0.39592	1.07	5.01	4.13	0.48395	.	0.341308	0.30244	N	0.010068	T	0.31638	0.0803	L	0.38531	1.155	0.80722	D	1	B	0.19331	0.035	B	0.23275	0.045	T	0.11767	-1.0574	10	0.46703	T	0.11	-21.4501	8.0102	0.30349	0.0:0.7842:0.0:0.2158	.	1225	Q9P241	AT10D_HUMAN	M	1225	ENSP00000273859:I1225M	ENSP00000273859:I1225M	I	+	3	3	ATP10D	47278760	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	0.941000	0.29005	1.267000	0.44247	0.591000	0.81541	ATC		PASS	0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		9	117	9	117	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57204811	57204811	+	Silent	SNP	T	T	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:57204811T>G	ENST00000205214.6	-	15	3234	c.3054A>C	c.(3052-3054)tcA>tcC	p.S1018S	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Silent_p.S918S|AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.S533S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1018					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S1018S(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CATAGACCCTTGAAGTAGTTT	0.408																																						uc003hbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3052-3054)TCA>TCC		aminoadipate-semialdehyde dehydrogenase							99.0	96.0	97.0					4																	57204811		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57204811T>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3054A>C	4.37:g.57204811T>G						AASDH_uc010ihb.2_Silent_p.S533S|AASDH_uc011caa.1_3'UTR|AASDH_uc003hbo.2_Silent_p.S918S|AASDH_uc011cab.1_Silent_p.S533S|AASDH_uc010ihc.2_3'UTR	p.S1018S	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			15	3207	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	1018					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.3054A>C	CCDS3504.1																																																																																				PASS	0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		18	43	18	43	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114275283	114275283	+	Missense_Mutation	SNP	G	G	A	rs199527708		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:114275283G>A	ENST00000357077.4	+	38	5562	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1804T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1837	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1837T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCCTCTTCCGCAAAAACTGA	0.507																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5509-5511)GCA>ACA		ankyrin 2 isoform 1		G	,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	119.0	127.0	124.0		,5509,	1.4	0.2	4		124	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,58,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,benign,	,1837/3958,	114275283	4,13002	2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275283G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5509G>A	4.37:g.114275283G>A	ENSP00000349588:p.Ala1837Thr					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.A1852T	p.A1837T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5609	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1804			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5509G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610830	0.03690	2.27E-4	3.49E-4	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.2;-0.21	5.14	1.38	0.22167	.	0.486081	0.17507	N	0.171771	T	0.55768	0.1941	L	0.54323	1.7	0.41921	D	0.99051	B;B	0.18310	0.004;0.027	B;B	0.14578	0.002;0.011	T	0.45673	-0.9245	9	.	.	.	.	8.1624	0.31207	0.3644:0.0:0.6356:0.0	.	1804;1837	Q01484;Q01484-4	ANK2_HUMAN;.	T	1837;1804	ENSP00000349588:A1837T;ENSP00000264366:A1804T	.	A	+	1	0	ANK2	114494732	0.004000	0.15560	0.236000	0.24074	0.100000	0.18952	0.138000	0.16016	0.385000	0.24970	-0.140000	0.14226	GCA		PASS	0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	84	4	84	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119948592	119948592	+	Splice_Site	SNP	A	A	G	rs137938917		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:119948592A>G	ENST00000429713.2	+	3	1250	c.1068A>G	c.(1066-1068)gcA>gcG	p.A356A	SYNPO2_ENST00000307142.4_Splice_Site_p.A356A|SYNPO2_ENST00000434046.2_Splice_Site_p.A356A|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	356						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.A356A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCGGCATGCACGTAAGTTCT	0.502													A|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.001	False		,,,				2504	0.0					uc003icm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1066-1068)GCA>GCG		synaptopodin 2 isoform b							24.0	21.0	22.0					4																	119948592		2201	4299	6500	SO:0001630	splice_region_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948592A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1069+1A>G	4.37:g.119948592A>G						SYNPO2_uc010ina.2_Silent_p.A356A|SYNPO2_uc010inb.2_Silent_p.A356A|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.A284A	p.A356A	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			3	1264	+			356					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.1068A>G	CCDS47129.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	13.43	2.234952	0.39498	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.73	-1.38	0.09027	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31251	-0.9950	4	.	.	.	-18.9422	2.6313	0.04945	0.44:0.3124:0.1442:0.1034	.	.	.	.	A	308	.	.	T	+	1	0	SYNPO2	120168040	0.987000	0.35691	0.999000	0.59377	0.984000	0.73092	0.283000	0.18846	0.078000	0.16900	0.533000	0.62120	ACG		PASS	0.502	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		Silent	10	8	10	8	---	---	---	---
FGF2	2247	broad.mit.edu	37	4	123797552	123797552	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:123797552G>C	ENST00000608478.1	+	2	599	c.255G>C	c.(253-255)atG>atC	p.M85I	FGF2_ENST00000264498.3_Missense_Mutation_p.M218I			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	218					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.M218I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	ACCTGGCTATGAAGGAAGATG	0.373																																						uc003iev.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(652-654)ATG>ATC		fibroblast growth factor 2	Pentosan Polysulfate(DB00686)						157.0	149.0	151.0					4																	123797552		2203	4300	6503	SO:0001583	missense	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123797552G>C	J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"""Endogenous ligands"""	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.255G>C	4.37:g.123797552G>C	ENSP00000477134:p.Met85Ile						p.M218I	NM_002006	NP_001997	P09038	FGF2_HUMAN			2	722	+			218					A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Missense_Mutation	SNP	ENST00000608478.1	37	c.654G>C		.	.	.	.	.	.	.	.	.	.	G	24.1	4.496616	0.85069	.	.	ENSG00000138685	ENST00000264498	D	0.83673	-1.75	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	M	0.79693	2.465	0.45567	D	0.998518	P	0.44260	0.83	D	0.66196	0.942	D	0.91992	0.5604	9	0.72032	D	0.01	.	18.4726	0.90779	0.0:0.0:1.0:0.0	.	218	P09038	FGF2_HUMAN	I	218	ENSP00000264498:M218I	ENSP00000264498:M218I	M	+	3	0	FGF2	124017002	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.957000	0.76019	2.637000	0.89404	0.563000	0.77884	ATG		PASS	0.373	FGF2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472102.1	NM_002006		9	10	9	10	---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123838817	123838817	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:123838817C>A	ENST00000304430.5	-	2	314	c.281G>T	c.(280-282)tGg>tTg	p.W94L	NUDT6_ENST00000339154.2_5'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	94						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.W94L(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						AATGTGCAGCCATACAGCTGT	0.448																																						uc003iew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)TGG>TTG		nudix-type motif 6 isoform a							115.0	114.0	114.0					4																	123838817		1986	4170	6156	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123838817C>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.281G>T	4.37:g.123838817C>A	ENSP00000306070:p.Trp94Leu					NUDT6_uc003iex.2_5'UTR	p.W94L	NM_007083	NP_009014	P53370	NUDT6_HUMAN			2	313	-			94					A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.281G>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550414	0.86127	.	.	ENSG00000170917	ENST00000304430	T	0.56275	0.47	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.84259	0.0482	10	0.87932	D	0	-2.7111	17.3065	0.87196	0.0:1.0:0.0:0.0	.	94	P53370	NUDT6_HUMAN	L	94	ENSP00000306070:W94L	ENSP00000306070:W94L	W	-	2	0	NUDT6	124058267	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.558000	0.73942	2.410000	0.81850	0.561000	0.74099	TGG		PASS	0.448	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		9	15	9	15	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155508748	155508748	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:155508748C>T	ENST00000302053.3	-	4	504	c.426G>A	c.(424-426)aaG>aaA	p.K142K	FGA_ENST00000403106.3_Silent_p.K142K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	142					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.K142K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGACTTTGCGCTTCAGGACTT	0.413																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(424-426)AAG>AAA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						196.0	179.0	185.0					4																	155508748		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508748C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.426G>A	4.37:g.155508748C>T						FGA_uc003ioe.1_Silent_p.K142K|FGA_uc003iof.1_Silent_p.K142K	p.K142K	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	484	-	all_hematologic(180;0.215)	Renal(120;0.0458)	142			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.426G>A	CCDS3787.1																																																																																				PASS	0.413	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		26	37	26	37	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164087748	164087748	+	Silent	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:164087748T>C	ENST00000274054.2	-	1	325	c.132A>G	c.(130-132)ctA>ctG	p.L44L	NAF1_ENST00000422287.2_Silent_p.L44L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	44					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L44L(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAACGACTGTAGCGGCGGCT	0.662																																						uc003iqj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(130-132)CTA>CTG		nuclear assembly factor 1 homolog isoform a							8.0	12.0	11.0					4																	164087748		2063	4160	6223	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164087748T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.132A>G	4.37:g.164087748T>C						NAF1_uc010iqw.1_Silent_p.L44L|NAF1_uc003iqk.2_RNA	p.L44L	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			1	326	-	all_hematologic(180;0.166)	Prostate(90;0.109)	44					D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.132A>G	CCDS3803.1																																																																																				PASS	0.662	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		6	3	6	3	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176594915	176594915	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:176594915C>A	ENST00000280187.7	-	4	348	c.303G>T	c.(301-303)gtG>gtT	p.V101V	GPM6A_ENST00000393658.2_Silent_p.V101V|GPM6A_ENST00000506894.1_Silent_p.V90V|GPM6A_ENST00000515090.1_Silent_p.V94V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	101					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.V101V(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGAAACCTTCCACCATCAGCA	0.423																																						uc003iuf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)GTG>GTT		glycoprotein M6A isoform 2							82.0	79.0	80.0					4																	176594915		2203	4300	6503	SO:0001819	synonymous_variant	2823					cell surface|integral to membrane		g.chr4:176594915C>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.303G>T	4.37:g.176594915C>A						GPM6A_uc011ckj.1_Silent_p.V94V|GPM6A_uc003iug.2_Silent_p.V101V|GPM6A_uc003iuh.2_Silent_p.V90V	p.V101V	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	1107	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	101			Helical; (Potential).		B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	c.303G>T	CCDS3824.1																																																																																				PASS	0.423	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			18	13	18	13	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187517903	187517903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:187517903G>T	ENST00000441802.2	-	25	13000	c.12791C>A	c.(12790-12792)tCa>tAa	p.S4264*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4264					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S4267*(1)|p.S4264*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTGTTTCTTGAGTCACTTGG	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12790-12792)TCA>TAA		FAT tumor suppressor 1 precursor							76.0	77.0	76.0					4																	187517903		1918	4150	6068	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517903G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12791C>A	4.37:g.187517903G>T	ENSP00000406229:p.Ser4264*	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.S155*	p.S4264*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	12979	-			4264			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12791C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362477	0.61403	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3359	0.94319	0.0:0.0:1.0:0.0	.	.	.	.	X	4264;4266	.	ENSP00000260147:S4266X	S	-	2	0	FAT1	187754897	1.000000	0.71417	0.966000	0.40874	0.186000	0.23388	7.814000	0.86154	2.809000	0.96659	0.555000	0.69702	TCA		PASS	0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	11	10	11	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187538166	187538166	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:187538166C>A	ENST00000441802.2	-	11	9277	c.9068G>T	c.(9067-9069)tGt>tTt	p.C3023F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3023	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C3023F(1)|p.C3026F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TACCTTTTCACAAACTGGACT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9067-9069)TGT>TTT		FAT tumor suppressor 1 precursor							199.0	175.0	183.0					4																	187538166		1926	4123	6049	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538166C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9068G>T	4.37:g.187538166C>A	ENSP00000406229:p.Cys3023Phe	HNSCC(5;0.00058)					p.C3023F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			11	9256	-			3023			Extracellular (Potential).|Cadherin 27.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9068G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073476	0.76415	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01665	4.7	4.33	4.33	0.51752	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.04227	0.0117	L	0.27944	0.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51896	-0.8647	10	0.02654	T	1	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	3023	Q14517	FAT1_HUMAN	F	3023;3025	ENSP00000406229:C3023F	ENSP00000260147:C3025F	C	-	2	0	FAT1	187775160	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.574000	0.82434	2.399000	0.81585	0.563000	0.77884	TGT		PASS	0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		23	18	23	18	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187584459	187584459	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr4:187584459T>A	ENST00000441802.2	-	3	3783	c.3574A>T	c.(3574-3576)Aaa>Taa	p.K1192*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1192	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K1192*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACCTGTTTTAGGATGTATT	0.353										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3574-3576)AAA>TAA		FAT tumor suppressor 1 precursor							62.0	57.0	59.0					4																	187584459		1845	4081	5926	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187584459T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3574A>T	4.37:g.187584459T>A	ENSP00000406229:p.Lys1192*	HNSCC(5;0.00058)					p.K1192*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			3	3762	-			1192			Extracellular (Potential).|Cadherin 10.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3574A>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	45	11.372412	0.99553	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.3	5.3	0.74995	.	0.046422	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	.	.	.	X	1192	.	ENSP00000260147:K1192X	K	-	1	0	FAT1	187821453	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	4.880000	0.63107	2.225000	0.72522	0.482000	0.46254	AAA		PASS	0.353	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	8	9	8	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5464632	5464632	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:5464632G>T	ENST00000296564.7	+	13	5407	c.5185G>T	c.(5185-5187)Ggc>Tgc	p.G1729C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1729	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.G1729C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCCTGTGCCTGGCCGACTCCC	0.582																																						uc003jdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5185-5187)GGC>TGC		hypothetical protein LOC23379							44.0	45.0	45.0					5																	5464632		2078	4214	6292	SO:0001583	missense	23379							g.chr5:5464632G>T																												ENST00000296564.7:c.5185G>T	5.37:g.5464632G>T	ENSP00000296564:p.Gly1729Cys						p.G1729C	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5407	+			1729			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.5185G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575791	0.86645	.	.	ENSG00000164151	ENST00000296564	T	0.49720	0.77	5.47	5.47	0.80525	.	.	.	.	.	T	0.66287	0.2774	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.68364	-0.5428	9	0.87932	D	0	-10.661	16.8165	0.85735	0.0:0.0:1.0:0.0	.	1729	Q9Y2F5	K0947_HUMAN	C	1729	ENSP00000296564:G1729C	ENSP00000296564:G1729C	G	+	1	0	KIAA0947	5517632	1.000000	0.71417	0.957000	0.39632	0.797000	0.45037	9.040000	0.93783	2.559000	0.86315	0.460000	0.39030	GGC		PASS	0.582	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	27	9	27	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11082905	11082905	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:11082905G>T	ENST00000304623.8	-	16	2880	c.2691C>A	c.(2689-2691)ctC>ctA	p.L897L	CTNND2_ENST00000458100.2_Silent_p.L464L|CTNND2_ENST00000503622.1_Silent_p.L560L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L839L|CTNND2_ENST00000511377.1_Silent_p.L806L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	897					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L897L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGCTCCACGAGGATGGGCA	0.552																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2689-2691)CTC>CTA		catenin (cadherin-associated protein), delta 2							105.0	93.0	97.0					5																	11082905		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082905G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2691C>A	5.37:g.11082905G>T						CTNND2_uc010itt.2_Silent_p.L806L|CTNND2_uc011cmy.1_Silent_p.L560L|CTNND2_uc011cmz.1_Silent_p.L464L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L489L	p.L897L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2836	-			897			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2691C>A	CCDS3881.1																																																																																				PASS	0.552	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		22	40	22	40	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14331006	14331006	+	Silent	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:14331006A>G	ENST00000344204.4	+	10	1875	c.1851A>G	c.(1849-1851)gcA>gcG	p.A617A	TRIO_ENST00000509967.2_Silent_p.A568A|TRIO_ENST00000537187.1_Silent_p.A617A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	617					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A617A(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGAAGTGGCACAGGTAAAAC	0.398																																						uc003jff.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1849-1851)GCA>GCG		triple functional domain (PTPRF interacting)							123.0	123.0	123.0					5																	14331006		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14331006A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1851A>G	5.37:g.14331006A>G						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.A568A|TRIO_uc003jfh.1_Silent_p.A266A	p.A617A	NM_007118	NP_009049	O75962	TRIO_HUMAN			10	1857	+	Lung NSC(4;0.000742)		617			Spectrin 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.1851A>G	CCDS3883.1																																																																																				PASS	0.398	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		32	79	32	79	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483489	19483489	+	Silent	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:19483489A>G	ENST00000507958.1	-	14	2793	c.1803T>C	c.(1801-1803)caT>caC	p.H601H	CDH18_ENST00000506372.1_Missense_Mutation_p.M566T|CDH18_ENST00000274170.4_Silent_p.H601H|CDH18_ENST00000502796.1_Missense_Mutation_p.M565T|CDH18_ENST00000382275.1_Silent_p.H601H			Q13634	CAD18_HUMAN	cadherin 18, type 2	601	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H601H(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)					AGGCTTCTGCATGGCAGGTCC	0.517																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1801-1803)CAT>CAC		cadherin 18, type 2 preproprotein							76.0	68.0	71.0					5																	19483489		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483489A>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.1803T>C	5.37:g.19483489A>G						CDH18_uc003jgd.2_Silent_p.H601H|CDH18_uc011cnm.1_Missense_Mutation_p.M565T	p.H601H	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2180	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		601			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1803T>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320253	0.23994	.	.	ENSG00000145526	ENST00000506372;ENST00000502796;ENST00000515257	T;T;T	0.57752	0.38;0.38;0.57	5.54	1.91	0.25777	.	.	.	.	.	T	0.35307	0.0927	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06917	-1.0800	7	.	.	.	.	8.3174	0.32108	0.7694:0.0:0.2306:0.0	.	565	B4DHG6	.	T	566;565;432	ENSP00000424931:M566T;ENSP00000422138:M565T;ENSP00000427383:M432T	.	M	-	2	0	CDH18	19519246	0.725000	0.28048	0.930000	0.37139	0.962000	0.63368	0.011000	0.13264	0.098000	0.17522	0.533000	0.62120	ATG		PASS	0.517	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		9	14	9	14	---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37443371	37443371	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:37443371G>T	ENST00000265107.4	+	7	739	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	WDR70_ENST00000504564.1_Missense_Mutation_p.A195S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	195							enzyme binding (GO:0019899)	p.A195S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCTCAGGTGCCCGTTTGGT	0.413																																						uc003jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(583-585)GCC>TCC		WD repeat domain 70							100.0	86.0	91.0					5																	37443371		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37443371G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.583G>T	5.37:g.37443371G>T	ENSP00000265107:p.Ala195Ser					WDR70_uc010iva.1_Missense_Mutation_p.A195S	p.A195S	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	641	+	all_lung(31;0.000285)		195			WD 1.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.583G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074937	0.55646	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;T	0.58797	0.31;0.31	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	N	0.05534	-0.03	0.80722	D	1	P;B	0.38223	0.623;0.449	P;B	0.46885	0.53;0.191	T	0.38779	-0.9645	10	0.12103	T	0.63	-0.1304	18.4538	0.90713	0.0:0.0:1.0:0.0	.	195;195	D6RIW8;Q9NW82	.;WDR70_HUMAN	S	195	ENSP00000265107:A195S;ENSP00000425841:A195S	ENSP00000265107:A195S	A	+	1	0	WDR70	37479128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.437000	0.82529	0.491000	0.48974	GCC		PASS	0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		11	33	11	33	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38919142	38919142	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:38919142C>A	ENST00000274276.3	+	11	1965	c.1563C>A	c.(1561-1563)gtC>gtA	p.V521V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	521	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.V521V(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)					CTGTAATAGTCATCTCTGCAG	0.398																																						uc003jln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1561-1563)GTC>GTA		oncostatin M receptor precursor							130.0	123.0	125.0					5																	38919142		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38919142C>A	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.1563C>A	5.37:g.38919142C>A						OSMR_uc011cpj.1_5'UTR	p.V521V	NM_003999	NP_003990	Q99650	OSMR_HUMAN			11	1930	+	all_lung(31;0.000365)		521			Fibronectin type-III 2.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1563C>A	CCDS3928.1																																																																																				PASS	0.398	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		10	44	10	44	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52355737	52355737	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:52355737G>T	ENST00000296585.5	+	11	1350	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	403					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G403C(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGGAGCTTTTGGCTGGAGTGG	0.398																																						uc003joy.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1207-1209)GGC>TGC		integrin alpha 2 precursor							78.0	75.0	76.0					5																	52355737		2203	4299	6502	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52355737G>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1207G>T	5.37:g.52355737G>T	ENSP00000296585:p.Gly403Cys					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.G327C|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.G403C	NM_002203	NP_002194	P17301	ITA2_HUMAN			11	1350	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	403			Extracellular (Potential).|FG-GAP 3.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1207G>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805047	0.70682	.	.	ENSG00000164171	ENST00000296585	T	0.42513	0.97	5.52	5.52	0.82312	.	0.649956	0.16059	N	0.231596	T	0.40347	0.1113	L	0.34521	1.04	0.28408	N	0.9183	P;P	0.51933	0.863;0.949	B;B	0.42882	0.353;0.401	T	0.41910	-0.9482	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	403;403	E7ESP4;P17301	.;ITA2_HUMAN	C	403	ENSP00000296585:G403C	ENSP00000296585:G403C	G	+	1	0	ITGA2	52391494	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.981000	0.63819	2.878000	0.98634	0.650000	0.86243	GGC		PASS	0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		6	22	6	22	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75427817	75427817	+	Missense_Mutation	SNP	G	G	T	rs538101845	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:75427817G>T	ENST00000502798.2	+	2	684	c.242G>T	c.(241-243)gGg>gTg	p.G81V	SV2C_ENST00000322285.7_Missense_Mutation_p.G81V	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	81					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.G81V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCCACTGAGGGGCATGATGAA	0.527																																						uc003kei.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(241-243)GGG>GTG		synaptic vesicle glycoprotein 2C							78.0	82.0	80.0					5																	75427817		2117	4257	6374	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427817G>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.242G>T	5.37:g.75427817G>T	ENSP00000423541:p.Gly81Val						p.G81V	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	376	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	81			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.242G>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630903	0.67015	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.28895	1.59;1.59	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62798	-0.6778	10	0.87932	D	0	-19.082	19.9694	0.97278	0.0:0.0:1.0:0.0	.	81	Q496J9	SV2C_HUMAN	V	81	ENSP00000423541:G81V;ENSP00000316983:G81V	ENSP00000316983:G81V	G	+	2	0	SV2C	75463573	1.000000	0.71417	0.987000	0.45799	0.193000	0.23685	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GGG		PASS	0.527	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			9	12	9	12	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86672323	86672323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:86672323C>T	ENST00000274376.6	+	16	2689	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.R543*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.R532*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R542*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	709					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R532*(1)|p.R709*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CCTGCGTGTTCGAGCACGATA	0.398																																						uc003kiw.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	GRCh37	CM083069	RASA1	M		c.(2125-2127)CGA>TGA		RAS p21 protein activator 1 isoform 1							97.0	93.0	94.0					5																	86672323		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672323C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2125C>T	5.37:g.86672323C>T	ENSP00000274376:p.Arg709*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R532*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R542*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R543*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R531*	p.R709*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	2243	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	709					B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.2125C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301230	0.98196	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.54	3.51	0.40186	.	0.059655	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8021	0.78458	0.2591:0.7409:0.0:0.0	.	.	.	.	X	709;742;532;542;543	.	ENSP00000274376:R709X	R	+	1	2	RASA1	86708079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.395000	0.44459	1.292000	0.44672	0.563000	0.77884	CGA		PASS	0.398	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		29	20	29	20	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056393	140056393	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:140056393G>T	ENST00000504156.1	-	10	1759	c.1040C>A	c.(1039-1041)gCa>gAa	p.A347E	HARS_ENST00000431330.2_Missense_Mutation_p.A233E|HARS_ENST00000457527.2_Missense_Mutation_p.A327E|HARS_ENST00000415192.2_Missense_Mutation_p.A273E|HARS_ENST00000504366.1_Missense_Mutation_p.A278E|HARS_ENST00000307633.3_Missense_Mutation_p.A287E|HARS_ENST00000438307.2_Missense_Mutation_p.A307E|HARS_ENST00000448240.1_Missense_Mutation_p.A152E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	347				A -> E (in Ref. 2; CAA28956). {ECO:0000305}.	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.A347E(1)|p.A237E(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)	CTCTTCCCCTGCCTGGGCTGG	0.592																																						uc003lgv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1039-1041)GCA>GAA		histidyl-tRNA synthetase	L-Histidine(DB00117)						94.0	93.0	93.0					5																	140056393		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056393G>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.1040C>A	5.37:g.140056393G>T	ENSP00000425634:p.Ala347Glu					HARS_uc003lgu.2_Missense_Mutation_p.A278E|HARS_uc011czm.1_Missense_Mutation_p.A307E|HARS_uc003lgw.2_Missense_Mutation_p.A327E|HARS_uc011czn.1_Missense_Mutation_p.A287E|HARS_uc010jfu.2_Missense_Mutation_p.A347E|HARS_uc011czo.1_Missense_Mutation_p.A273E|HARS_uc011czp.1_Missense_Mutation_p.A233E|HARS_uc011czq.1_Missense_Mutation_p.A237E	p.A347E	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1122	-			347	A -> E (in Ref. 2; CAA28956).				B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1040C>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	9.923	1.212768	0.22289	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.38077	1.58;1.57;1.44;1.24;1.44;1.16;1.43;1.44;1.67	5.64	3.52	0.40303	Aminoacyl-tRNA synthetase, class II (1);	0.608449	0.18387	N	0.142767	T	0.13114	0.0318	N	0.01091	-1.02	0.09310	N	1	B;B;B;B;B;B;B;B	0.22211	0.0;0.009;0.022;0.066;0.066;0.001;0.066;0.04	B;B;B;B;B;B;B;B	0.29077	0.001;0.021;0.038;0.063;0.098;0.004;0.098;0.04	T	0.17745	-1.0359	10	0.02654	T	1	-4.8835	14.8975	0.70654	0.0:0.0:0.6885:0.3115	.	237;233;273;287;307;347;327;347	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	E	347;327;233;278;287;152;307;273;237	ENSP00000425634:A347E;ENSP00000387893:A327E;ENSP00000393244:A233E;ENSP00000430063:A278E;ENSP00000304668:A287E;ENSP00000413605:A152E;ENSP00000411511:A307E;ENSP00000411085:A273E;ENSP00000425889:A237E	ENSP00000304668:A287E	A	-	2	0	HARS	140036577	0.485000	0.25972	0.809000	0.32408	0.730000	0.41778	1.346000	0.33964	1.454000	0.47793	0.563000	0.77884	GCA		PASS	0.592	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		33	31	33	31	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140580574	140580574	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:140580574G>T	ENST00000354757.3	+	1	1227	c.1227G>T	c.(1225-1227)ctG>ctT	p.L409L	PCDHB11_ENST00000536699.1_Silent_p.L44L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L409L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACCACTGGACAGAGAGA	0.488																																						uc003liy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1225-1227)CTG>CTT		protocadherin beta 11 precursor							118.0	114.0	116.0					5																	140580574		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580574G>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1227G>T	5.37:g.140580574G>T						PCDHB11_uc011daj.1_Silent_p.L44L	p.L409L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1227	+			409			Extracellular (Potential).|Cadherin 4.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.1227G>T	CCDS4253.1																																																																																				PASS	0.488	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		13	43	13	43	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140778631	140778631	+	Intron	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:140778631A>G	ENST00000576222.1	+	1	2546				PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						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)			GGAATATTCAATGGTTGTAGA	0.388																																						uc003lkf.1																			0					0						c.(937-939)ATG>GTG		protocadherin gamma subfamily B, 5 isoform 1							102.0	103.0	102.0					5																	140778631		1855	4106	5961	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778631A>G	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.2415+26255A>G	5.37:g.140778631A>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.M313V	p.M313V	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	937	+			313			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.937A>G	CCDS58980.1																																																																																				PASS	0.388	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		50	53	50	53	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147498010	147498010	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:147498010C>T	ENST00000256084.7	+	23	2165	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	SPINK5_ENST00000398454.1_Missense_Mutation_p.A708V|SPINK5_ENST00000359874.3_Missense_Mutation_p.A708V	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	708	Kazal-like 11. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A708V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGAATGTGCTGAGTATCGG	0.418																																						uc003lox.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(2122-2124)GCT>GTT		serine peptidase inhibitor, Kazal type 5 isoform							128.0	127.0	127.0					5																	147498010		1897	4109	6006	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147498010C>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2123C>T	5.37:g.147498010C>T	ENSP00000256084:p.Ala708Val					SPINK5_uc010jgs.1_Missense_Mutation_p.A680V|SPINK5_uc010jgr.2_Missense_Mutation_p.A689V|SPINK5_uc003low.2_Missense_Mutation_p.A708V|SPINK5_uc003loy.2_Missense_Mutation_p.A708V	p.A708V	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2196	+			708			Kazal-like 11.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2123C>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873568	0.51695	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.63	4.71	0.59529	Proteinase inhibitor I1, Kazal (1);	0.000000	0.47455	D	0.000233	T	0.18002	0.0432	M	0.74881	2.28	0.26457	N	0.975516	P;P;P;P	0.51351	0.944;0.778;0.533;0.485	P;P;B;P	0.52267	0.694;0.55;0.263;0.45	T	0.05632	-1.0873	10	0.30078	T	0.28	-10.9041	11.3547	0.49609	0.1807:0.8192:0.0:0.0	.	689;708;708;708	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	V	708;708;689;708	ENSP00000381472:A708V;ENSP00000352936:A708V;ENSP00000421519:A689V;ENSP00000256084:A708V	ENSP00000256084:A708V	A	+	2	0	SPINK5	147478203	0.996000	0.38824	1.000000	0.80357	0.279000	0.26890	0.738000	0.26158	2.826000	0.97356	0.655000	0.94253	GCT		PASS	0.418	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		3	46	3	46	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150946862	150946862	+	Missense_Mutation	SNP	C	C	T	rs562997126		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:150946862C>T	ENST00000261800.5	-	1	1643	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	544	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R544Q(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCTCCCGGCGAAAAGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20429	0.001		0.0	False		,,,				2504	0.0					uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1630-1632)CGG>CAG		FAT tumor suppressor 2 precursor							59.0	67.0	64.0					5																	150946862		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946862C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1631G>A	5.37:g.150946862C>T	ENSP00000261800:p.Arg544Gln					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R544Q	p.R544Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1644	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	544			Cadherin 4.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1631G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527621	0.27299	.	.	ENSG00000086570	ENST00000261800	T	0.61040	0.14	5.22	-1.49	0.08718	Cadherin (3);Cadherin-like (1);	0.677771	0.13480	N	0.384738	T	0.41073	0.1143	L	0.46741	1.465	0.30856	N	0.734084	B	0.15930	0.015	B	0.10450	0.005	T	0.35895	-0.9770	10	0.15066	T	0.55	.	5.7724	0.18261	0.1254:0.3089:0.0:0.5657	.	544	Q9NYQ8	FAT2_HUMAN	Q	544	ENSP00000261800:R544Q	ENSP00000261800:R544Q	R	-	2	0	FAT2	150927055	0.057000	0.20700	0.996000	0.52242	0.998000	0.95712	0.348000	0.20031	-0.044000	0.13491	0.655000	0.94253	CGG		PASS	0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		28	20	28	20	---	---	---	---
OR2Y1	134083	broad.mit.edu	37	5	180166564	180166564	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:180166564G>T	ENST00000307832.2	-	1	535	c.495C>A	c.(493-495)gcC>gcA	p.A165A		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A165A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGGCATGGCCATTGCGA	0.547																																						uc003mmf.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)GCC>GCA		olfactory receptor, family 2, subfamily Y,							59.0	54.0	56.0					5																	180166564		2203	4300	6503	SO:0001819	synonymous_variant	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166564G>T	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.495C>A	5.37:g.180166564G>T							p.A165A	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	495	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	165			Extracellular (Potential).		B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	c.495C>A	CCDS34323.1																																																																																				PASS	0.547	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		4	19	4	19	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180419856	180419856	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr5:180419856G>T	ENST00000342868.6	+	2	277	c.93G>T	c.(91-93)ttG>ttT	p.L31F		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	31						integral component of membrane (GO:0016021)		p.L31F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCCAGGCCTTGGTGGGGGAGG	0.542																																						uc003mmr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(91-93)TTG>TTT		butyrophilin-like 3 precursor							87.0	78.0	81.0					5																	180419856		2099	3922	6021	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180419856G>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.93G>T	5.37:g.180419856G>T	ENSP00000341787:p.Leu31Phe						p.L31F	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	221	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	31			Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.93G>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907357	0.33628	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.66099	-0.19	2.83	-5.67	0.02444	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60560	0.2278	L	0.52364	1.645	0.09310	N	1	P	0.44380	0.834	P	0.52823	0.71	T	0.59590	-0.7426	9	0.49607	T	0.09	.	6.95	0.24540	0.0:0.3274:0.1947:0.4779	.	31	Q6UXE8	BTNL3_HUMAN	F	31	ENSP00000341787:L31F	ENSP00000341787:L31F	L	+	3	2	BTNL3	180352462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-1.764000	0.01305	-0.445000	0.05633	TTG		PASS	0.542	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		5	47	5	47	---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2679591	2679591	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:2679591G>T	ENST00000274643.7	-	9	1152	c.810C>A	c.(808-810)ctC>ctA	p.L270L	MYLK4_ENST00000268446.5_Silent_p.L270L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L270L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTCAGGGGCGAGAAATTCTG	0.453																																						uc003mty.3																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	breast(3)|ovary(1)	4						c.(808-810)CTC>CTA		myosin light chain kinase family, member 4							205.0	208.0	207.0					6																	2679591		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679591G>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.810C>A	6.37:g.2679591G>T						MYLK4_uc003mtx.3_5'UTR	p.L270L	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			9	1107	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	270			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.810C>A	CCDS34330.1																																																																																				PASS	0.453	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		51	131	51	131	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29640440	29640440	+	IGR	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:29640440A>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.L463H|ZFP57_ENST00000488757.1_Missense_Mutation_p.L483H|ZFP57_ENST00000376881.3_Missense_Mutation_p.L463H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L463H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGAGAAGCCAAGCCACTGGCC	0.572																																						uc011dlw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1447-1449)CTT>CAT		zinc finger protein 57 homolog							64.0	69.0	67.0					6																	29640440		1273	2559	3832	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640440A>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640440A>T						ZFP57_uc003nnl.3_Missense_Mutation_p.L463H	p.L483H	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1599	-			399					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1448T>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053940	0.55218	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05580	3.42;3.64;3.64	4.14	4.14	0.48551	.	0.204672	0.24580	N	0.037307	T	0.11324	0.0276	M	0.71581	2.175	0.27467	N	0.952989	D;D	0.89917	0.999;1.0	D;D	0.71870	0.958;0.975	T	0.02161	-1.1203	10	0.54805	T	0.06	-12.7276	9.839	0.40987	1.0:0.0:0.0:0.0	.	483;463	Q9NU63-3;Q9NU63-2	.;.	H	483;463;463	ENSP00000418259:L483H;ENSP00000366078:L463H;ENSP00000366080:L463H	ENSP00000366078:L463H	L	-	2	0	ZFP57	29748419	0.040000	0.19996	0.980000	0.43619	0.780000	0.44128	1.869000	0.39519	2.093000	0.63338	0.379000	0.24179	CTT		PASS	0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		22	31	22	31	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079659	31079659	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:31079659G>T	ENST00000259870.3	-	2	480	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	159					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.A159A(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGAGGCCTGTGGCATCGGGAG	0.627																																						uc003nsk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)GCC>GCA		STG protein precursor							31.0	34.0	33.0					6																	31079659		1829	3611	5440	SO:0001819	synonymous_variant	29113							g.chr6:31079659G>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.477C>A	6.37:g.31079659G>T						PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	p.A159A	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	477	-			159					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.477C>A	CCDS4693.1																																																																																				PASS	0.627	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		18	23	18	23	---	---	---	---
PSMB8	5696	broad.mit.edu	37	6	32805735	32805735	+	IGR	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:32805735G>T	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.A92A|TAP2_ENST00000452392.2_Silent_p.A92A|TAP2_ENST00000374899.4_Silent_p.A92A	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.A92A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	AAGCGACTCTGGCTGGGGGAG	0.687																																					NSCLC(48;53 1172 10859 13624 22883)	uc003occ.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(274-276)GCC>GCA		transporter 2, ATP-binding cassette, sub-family							29.0	34.0	32.0					6																	32805735		1510	2708	4218	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805735G>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805735G>T						TAP2_uc011dqf.1_Silent_p.A92A|TAP2_uc003ocb.1_Silent_p.A92A|TAP2_uc003ocd.2_Silent_p.A92A	p.A92A	NM_018833	NP_061313	Q03519	TAP2_HUMAN			1	307	-			92			Lumenal (Potential).		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.276C>A	CCDS4757.1																																																																																				PASS	0.687	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		12	34	12	34	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33146095	33146095	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:33146095G>C	ENST00000374708.4	-	18	1808	c.1550C>G	c.(1549-1551)cCt>cGt	p.P517R	COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000395197.1_Missense_Mutation_p.P543R|COL11A2_ENST00000374713.1_Missense_Mutation_p.P556R|COL11A2_ENST00000374714.1_Missense_Mutation_p.P577R|COL11A2_ENST00000341947.2_Missense_Mutation_p.P603R|COL11A2_ENST00000361917.1_Missense_Mutation_p.P496R|COL11A2_ENST00000357486.1_Missense_Mutation_p.P582R|COL11A2_ENST00000374712.1_Missense_Mutation_p.P522R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	603	Collagen-like 2.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P603R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGACTCTCCAGGCAGCCCTCG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1807-1809)CCT>CGT		collagen, type XI, alpha 2 isoform 1							84.0	80.0	82.0					6																	33146095		1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146095G>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1550C>G	6.37:g.33146095G>C	ENSP00000363840:p.Pro517Arg					COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.P517R|COL11A2_uc003ocz.1_Missense_Mutation_p.P496R	p.P603R	NM_080680	NP_542411	P13942	COBA2_HUMAN			20	2036	-			603			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1808C>G	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439487	0.63067	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.09	3.89	3.89	0.44902	.	0.074472	0.53938	D	0.000048	D	0.98242	0.9418	M	0.80422	2.495	0.58432	D	0.999998	D;D;D	0.71674	0.995;0.995;0.998	D;D;D	0.74348	0.981;0.981;0.983	D	0.98378	1.0557	10	0.52906	T	0.07	.	13.4085	0.60929	0.0:0.0:1.0:0.0	.	496;517;603	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	517;603;582;577;556;543;522;496;603	ENSP00000363840:P517R;ENSP00000339915:P603R;ENSP00000350079:P582R;ENSP00000363846:P577R;ENSP00000363845:P556R;ENSP00000378623:P543R;ENSP00000363844:P522R;ENSP00000355123:P496R;ENSP00000405520:P603R	ENSP00000339915:P603R	P	-	2	0	COL11A2	33254073	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.102000	0.50291	2.005000	0.58758	0.448000	0.29417	CCT		PASS	0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			16	37	16	37	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33281789	33281789	+	IGR	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:33281789C>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000475304.1_Silent_p.V10V|TAPBP_ENST00000426633.2_Silent_p.V10V|TAPBP_ENST00000434618.2_Silent_p.V10V|TAPBP_ENST00000489157.1_Silent_p.V10V|TAPBP_ENST00000456592.2_Silent_p.V10V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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.V10V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CACCCAAAGCCACAGCGAGGA	0.627																																						uc003odx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(28-30)GTG>GTT		tapasin isoform 1 precursor							71.0	72.0	72.0					6																	33281789		2203	4300	6503	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281789C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281789C>A						TAPBP_uc010jus.1_Silent_p.V10V|TAPBP_uc003ody.2_Silent_p.V10V|TAPBP_uc003odz.2_Silent_p.V10V|TAPBP_uc010jut.1_Silent_p.V10V|TAPBP_uc011drc.1_Silent_p.V10V	p.V10V	NM_003190	NP_003181	O15533	TPSN_HUMAN			1	201	-			10					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.30G>T	CCDS4775.1																																																																																				PASS	0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			18	36	18	36	---	---	---	---
PIM1	5292	broad.mit.edu	37	6	37138631	37138631	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:37138631C>A	ENST00000373509.5	+	2	538	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	146					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.G55G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCTACTCAGGCATCCGCGTCT	0.711			T	BCL6	NHL																																	uc003onk.2				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(163-165)GGC>GGA		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						20.0	30.0	27.0					6																	37138631		2191	4283	6474	SO:0001819	synonymous_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138631C>A		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.165C>A	6.37:g.37138631C>A						PIM1_uc011dtw.1_5'Flank	p.G55G	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		2	595	+			146			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.165C>A	CCDS4830.1																																																																																				PASS	0.711	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			4	17	4	17	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37611679	37611679	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:37611679C>A	ENST00000434837.3	-	14	3620	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000297153.7_Silent_p.L818L|MDGA1_ENST00000505425.1_Silent_p.L814L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	814	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.L816L(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACGGTCCCCCAGCTCCCGAG	0.572																																						uc003onu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(2440-2442)CTG>CTT		MAM domain containing							69.0	75.0	73.0					6																	37611679		2057	4187	6244	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37611679C>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2442G>T	6.37:g.37611679C>A						MDGA1_uc003onv.1_Silent_p.L83L	p.L814L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			14	3621	-			814			MAM.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.2442G>T	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971537	0.18736	.	.	ENSG00000112139	ENST00000418178	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	T	0.51635	0.1686	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52571	-0.8558	4	.	.	.	.	10.3157	0.43736	0.0:0.9076:0.0:0.0924	.	.	.	.	L	124	.	.	W	-	2	0	MDGA1	37719657	0.112000	0.22096	1.000000	0.80357	0.854000	0.48673	0.114000	0.15520	2.735000	0.93741	0.655000	0.94253	TGG		PASS	0.572	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			11	15	11	15	---	---	---	---
KCNK16	83795	broad.mit.edu	37	6	39285661	39285661	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:39285661G>T	ENST00000373229.5	-	3	409	c.396C>A	c.(394-396)ggC>ggA	p.G132G	KCNK16_ENST00000507712.1_Silent_p.G67G|KCNK16_ENST00000425054.2_Silent_p.G132G|KCNK16_ENST00000437525.2_Silent_p.G132G|KCNK16_ENST00000373227.4_Silent_p.G132G	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	132					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G132G(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TAAGCGGGATGCCCAACAGGG	0.602																																						uc003ooq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(394-396)GGC>GGA		potassium channel, subfamily K, member 16							72.0	59.0	63.0					6																	39285661		2203	4300	6503	SO:0001819	synonymous_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285661G>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.396C>A	6.37:g.39285661G>T						KCNK16_uc003oor.3_Silent_p.G132G|KCNK16_uc010jwy.2_Silent_p.G132G|KCNK16_uc011dtz.1_Silent_p.G132G	p.G132G	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			3	410	-			132			Helical; (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	c.396C>A	CCDS4843.1																																																																																				PASS	0.602	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		6	11	6	11	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43126659	43126659	+	Silent	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:43126659A>G	ENST00000230419.4	+	18	3047	c.2826A>G	c.(2824-2826)agA>agG	p.R942R	PTK7_ENST00000352931.2_Silent_p.R886R|PTK7_ENST00000345201.2_Silent_p.R902R|PTK7_ENST00000481273.1_Silent_p.R950R|PTK7_ENST00000349241.2_Silent_p.R812R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	942	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R942R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTGCCCAGAGACAAGTGAAGG	0.592																																						uc003oub.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2824-2826)AGA>AGG		PTK7 protein tyrosine kinase 7 isoform a							82.0	72.0	76.0					6																	43126659		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43126659A>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2826A>G	6.37:g.43126659A>G						PTK7_uc003ouc.1_Silent_p.R886R|PTK7_uc003oud.1_Silent_p.R902R|PTK7_uc003oue.1_Silent_p.R812R|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.R950R|PTK7_uc010jyj.1_Silent_p.R268R|PTK7_uc003ouh.1_5'Flank	p.R942R	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		18	3024	+			942			Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2826A>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403590	0.25291	.	.	ENSG00000112655	ENST00000489707	.	.	.	5.93	0.587	0.17439	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40794	-0.9544	4	.	.	.	.	11.5153	0.50518	0.3979:0.0:0.6021:0.0	.	.	.	.	G	237	.	.	D	+	2	0	PTK7	43234637	0.997000	0.39634	0.992000	0.48379	0.994000	0.84299	0.516000	0.22817	-0.124000	0.11724	0.533000	0.62120	GAC		PASS	0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			10	29	10	29	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44272023	44272023	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:44272023G>T	ENST00000244571.4	-	14	1904	c.1902C>A	c.(1900-1902)gcC>gcA	p.A634A	AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.A634A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGGTGGGTGGCCGTATGCT	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010jza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1900-1902)GCC>GCA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						65.0	66.0	66.0					6																	44272023		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272023G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1902C>A	6.37:g.44272023G>T			OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.A634A	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		14	1905	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		634						Silent	SNP	ENST00000244571.4	37	c.1902C>A	CCDS34464.1																																																																																				PASS	0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		3	53	3	53	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	55924040	55924040	+	Splice_Site	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:55924040C>A	ENST00000244728.5	-	29	3006	c.2609G>T	c.(2608-2610)gGc>gTc	p.G870V	COL21A1_ENST00000535941.1_Splice_Site_p.G870V|COL21A1_ENST00000370808.2_Splice_Site_p.G236V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Splice_Site_p.G867V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	870	Collagen-like 6.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G870V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTGGTAGGCCTGCAGGGTG	0.433																																						uc003pcs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2608-2610)GGC>GTC		collagen, type XXI, alpha 1 precursor							64.0	67.0	66.0					6																	55924040		1842	4085	5927	SO:0001630	splice_region_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55924040C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2609-1G>T	6.37:g.55924040C>A						COL21A1_uc010jzz.2_Missense_Mutation_p.G255V|COL21A1_uc011dxg.1_Missense_Mutation_p.G243V|COL21A1_uc011dxh.1_Missense_Mutation_p.G221V|COL21A1_uc003pcr.2_Missense_Mutation_p.G227V	p.G870V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		29	2841	-	Lung NSC(77;0.0483)		870			Collagen-like 6.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2609G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340609	0.41498	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99637	-5.77;-5.77;-5.77;-6.29	5.15	5.15	0.70609	.	0.000000	0.53938	U	0.000050	D	0.99809	0.9917	H	0.96301	3.8	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	0.96888	0.9651	10	0.87932	D	0	.	18.637	0.91382	0.0:1.0:0.0:0.0	.	236;870;870;227	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	V	870;867;870;867;236	ENSP00000244728:G870V;ENSP00000359855:G867V;ENSP00000444384:G870V;ENSP00000359844:G236V	ENSP00000244728:G870V	G	-	2	0	COL21A1	56031999	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	6.146000	0.71777	2.386000	0.81285	0.563000	0.77884	GGC		PASS	0.433	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Missense_Mutation	4	22	4	22	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57012772	57012772	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:57012772G>C	ENST00000370706.4	+	10	2133	c.1889G>C	c.(1888-1890)aGc>aCc	p.S630T	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S630T|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S630T|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	630					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.S630T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTTTGGCAAGCCACAAGTTT	0.423																																						uc003pdm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1888-1890)AGC>ACC		zinc finger protein 451 isoform 1							85.0	86.0	86.0					6																	57012772		2202	4298	6500	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012772G>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1889G>C	6.37:g.57012772G>C	ENSP00000359740:p.Ser630Thr					ZNF451_uc003pdl.2_Missense_Mutation_p.S630T|ZNF451_uc003pdn.1_Missense_Mutation_p.S630T|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S630T	p.S630T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2113	+	Lung NSC(77;0.145)		630			C2H2-type 7; atypical.		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1889G>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295848	0.60086	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19532	2.14;2.14;2.15	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);	0.044269	0.85682	D	0.000000	T	0.30448	0.0765	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.69078	0.993;0.997;0.996;0.997	P;P;P;P	0.62649	0.879;0.876;0.905;0.876	T	0.01863	-1.1258	10	0.30078	T	0.28	-17.0488	13.5895	0.61951	0.0:0.0:0.8447:0.1553	.	630;630;630;630	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	630	ENSP00000359740:S630T;ENSP00000350083:S630T;ENSP00000421645:S630T	ENSP00000350083:S630T	S	+	2	0	ZNF451	57120731	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.802000	0.62539	2.460000	0.83146	0.557000	0.71058	AGC		PASS	0.423	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		32	61	32	61	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90435040	90435040	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:90435040C>A	ENST00000369393.3	-	38	5663	c.5548G>T	c.(5548-5550)Gag>Tag	p.E1850*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E1850*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1850					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E1850*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTCCTAACTCAGGCACATAG	0.433																																						uc003pnn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)	10						c.(5548-5550)GAG>TAG		MDN1, midasin homolog							98.0	92.0	94.0					6																	90435040		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90435040C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5548G>T	6.37:g.90435040C>A	ENSP00000358400:p.Glu1850*						p.E1850*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	38	5664	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1850					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.5548G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	47	13.636474	0.99754	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	.	.	.	X	1850	.	ENSP00000358400:E1850X	E	-	1	0	MDN1	90491761	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.781000	0.95711	0.591000	0.81541	GAG		PASS	0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			16	47	16	47	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90504480	90504480	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:90504480G>C	ENST00000369393.3	-	3	485	c.370C>G	c.(370-372)Caa>Gaa	p.Q124E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q124E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	124					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q124E(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAAGTCTTTGAAAGACTGGG	0.433																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(370-372)CAA>GAA		MDN1, midasin homolog							77.0	71.0	73.0					6																	90504480		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90504480G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.370C>G	6.37:g.90504480G>C	ENSP00000358400:p.Gln124Glu					MDN1_uc003pnp.1_Missense_Mutation_p.Q124E	p.Q124E	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	3	486	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	124					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.370C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208154	0.39003	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.33216	1.42;1.42;1.42	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	L	0.42245	1.32	0.53688	D	0.999977	P;B	0.49559	0.925;0.242	B;B	0.42692	0.395;0.122	T	0.01670	-1.1299	10	0.25751	T	0.34	.	18.5911	0.91212	0.0:0.0:1.0:0.0	.	124;124	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	E	124	ENSP00000358400:Q124E;ENSP00000413970:Q124E;ENSP00000409664:Q124E	ENSP00000358400:Q124E	Q	-	1	0	MDN1	90561201	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.823000	0.86660	2.464000	0.83262	0.557000	0.71058	CAA		PASS	0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	64	8	64	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90660400	90660400	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:90660400G>T	ENST00000257749.4	-	7	2132	c.1425C>A	c.(1423-1425)ccC>ccA	p.P475P	BACH2_ENST00000537989.1_Silent_p.P475P|BACH2_ENST00000343122.3_Silent_p.P475P|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	475						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P475P(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCTGCGAGCTGGGGAGGGACT	0.627																																						uc011eab.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1423-1425)CCC>CCA		BTB and CNC homology 1, basic leucine zipper							41.0	48.0	46.0					6																	90660400		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660400G>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1425C>A	6.37:g.90660400G>T						BACH2_uc003pnw.2_Silent_p.P475P|BACH2_uc010kch.2_Silent_p.P475P	p.P475P	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2234	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	475					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1425C>A	CCDS5026.1																																																																																				PASS	0.627	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		11	26	11	26	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97681743	97681743	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:97681743C>T	ENST00000275053.4	-	12	1561	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	432					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.K432K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCACCAGGTTCTTACTATAAT	0.308																																						uc003ppb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1294-1296)AAG>AAA		hypothetical protein LOC253714							61.0	62.0	62.0					6																	97681743		2201	4296	6497	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681743C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1296G>A	6.37:g.97681743C>T						C6orf167_uc011eaf.1_Intron|C6orf167_uc010kcn.1_Silent_p.K206K|C6orf167_uc010kco.1_Silent_p.K168K	p.K432K	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	12	1562	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	432					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.1296G>A	CCDS5039.1																																																																																				PASS	0.308	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		21	51	21	51	---	---	---	---
FYN	2534	broad.mit.edu	37	6	111995730	111995731	+	Missense_Mutation	DNP	CA	CA	AG	rs142448026		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:111995730_111995731CA>AG	ENST00000354650.3	-	13	1982_1983	c.1376_1377TG>CT	c.(1375-1377)cTG>cCT	p.L459P	FYN_ENST00000368682.3_Missense_Mutation_p.L456P|FYN_ENST00000229471.4_Missense_Mutation_p.L404P|FYN_ENST00000368667.2_Missense_Mutation_p.L459P|FYN_ENST00000538466.1_Missense_Mutation_p.L456P|FYN_ENST00000356013.2_Missense_Mutation_p.L404P|FYN_ENST00000368678.4_Missense_Mutation_p.L456P|FYN_ENST00000229470.5_Missense_Mutation_p.L407P	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L459P(2)|p.L456P(2)|p.L456L(1)|p.L459L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTTTGGTGACCAGCTCTGTGAG	0.525																																						uc003pvj.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(1375-1377)CTG>CTT|c.(1375-1377)CTG>CCG		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)																																			SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111995730C>A|g.chr6:111995731A>G	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1376_1377delinsAG	6.37:g.111995730_111995731delinsAG	ENSP00000346671:p.Leu459Pro					FYN_uc003pvi.2_Silent_p.L404L|FYN_uc003pvk.2_Silent_p.L459L|FYN_uc003pvh.2_Silent_p.L456L|FYN_uc003pvi.2_Missense_Mutation_p.L404P|FYN_uc003pvk.2_Missense_Mutation_p.L459P|FYN_uc003pvh.2_Missense_Mutation_p.L456P	p.L459L|p.L459P	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	12	1717|1716	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	459			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent|Missense_Mutation	SNP	ENST00000354650.3	37	c.1377G>T|c.1376T>C	CCDS5094.1																																																																																				PASS	0.525	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			40|39	113	39	113	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117622242	117622242	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:117622242T>A	ENST00000368508.3	-	42	6826	c.6628A>T	c.(6628-6630)Aga>Tga	p.R2210*	RN7SKP18_ENST00000516005.1_RNA|ROS1_ENST00000368507.3_Nonsense_Mutation_p.R2204*|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R2210*(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCTGAATTCTATGAAAAGTA	0.363			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Nonsense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6628-6630)AGA>TGA		proto-oncogene c-ros-1 protein precursor							101.0	106.0	104.0					6																	117622242		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117622242T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6628A>T	6.37:g.117622242T>A	ENSP00000357494:p.Arg2210*					ROS1_uc011ebi.1_RNA	p.R2210*	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	42	6827	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2210			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.6628A>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	48	14.542248	0.99800	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.01	1.01	0.19927	.	1.148530	0.06199	N	0.682947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	0.7546	0.00996	0.1689:0.1831:0.1533:0.4947	.	.	.	.	X	2210;2204	.	ENSP00000357493:R2204X	R	-	1	2	ROS1	117728935	0.089000	0.21612	0.598000	0.28837	0.989000	0.77384	0.398000	0.20899	0.445000	0.26639	0.528000	0.53228	AGA		PASS	0.363	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			29	82	29	82	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132967003	132967003	+	Missense_Mutation	SNP	G	G	C	rs149785438		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:132967003G>C	ENST00000275216.1	-	1	139	c.140C>G	c.(139-141)tCt>tGt	p.S47C		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	47					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S47C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	GTGTGATATAGAAACAATAAC	0.423																																						uc003qdm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TCT>TGT		trace amine associated receptor 1	Amphetamine(DB00182)	G	CYS/SER	0,4406		0,0,2203	147.0	145.0	146.0		140	5.8	1.0	6	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	no	missense	TAAR1	NM_138327.1	112	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	47/340	132967003	2,13004	2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132967003G>C	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.140C>G	6.37:g.132967003G>C	ENSP00000275216:p.Ser47Cys						p.S47C	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	140	-	Breast(56;0.135)		47			Cytoplasmic (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.140C>G	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325957	0.81580	0.0	2.33E-4	ENSG00000146399	ENST00000275216	T	0.19938	2.11	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.061126	0.64402	D	0.000002	T	0.51618	0.1685	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.60556	-0.7240	10	0.87932	D	0	-15.5431	20.1041	0.97884	0.0:0.0:1.0:0.0	.	47	Q96RJ0	TAAR1_HUMAN	C	47	ENSP00000275216:S47C	ENSP00000275216:S47C	S	-	2	0	TAAR1	133008696	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	6.687000	0.74552	2.755000	0.94549	0.555000	0.69702	TCT		PASS	0.423	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		32	101	32	101	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145119013	145119013	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:145119013G>T	ENST00000367545.3	+	63	9132	c.9132G>T	c.(9130-9132)ttG>ttT	p.L3044F	UTRN_ENST00000367526.4_Missense_Mutation_p.L599F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3044	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.L3044F(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)		GGATGCATTTGGAACCACAGT	0.373																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9130-9132)TTG>TTT		utrophin							113.0	114.0	114.0					6																	145119013		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145119013G>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.9132G>T	6.37:g.145119013G>T	ENSP00000356515:p.Leu3044Phe						p.L3044F	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)	63	9224	+		Ovarian(120;0.218)	3044			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9132G>T	CCDS34547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.153138|2.153138	0.38021|0.38021	.|.	.|.	ENSG00000152818|ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142|ENST00000367524	T;T;D;D|.	0.88664|.	-0.71;-0.71;-2.41;-2.41|.	5.67|5.67	3.89|3.89	0.44902|0.44902	EF-hand domain, type 2 (1);EF-hand-like domain (1);|.	0.000000|.	0.41823|.	D|.	0.000811|.	T|T	0.69575|0.69575	0.3126|0.3126	M|M	0.86651|0.86651	2.83|2.83	0.39697|0.39697	D|D	0.971131|0.971131	D|.	0.67145|.	0.996|.	D|.	0.75484|.	0.986|.	T|T	0.74512|0.74512	-0.3641|-0.3641	10|5	0.59425|.	D|.	0.04|.	.|.	11.0253|11.0253	0.47741|0.47741	0.2031:0.0:0.7969:0.0|0.2031:0.0:0.7969:0.0	.|.	3044|.	P46939|.	UTRO_HUMAN|.	F|L	3044;599;3;3;3|88	ENSP00000356515:L3044F;ENSP00000356496:L599F;ENSP00000398923:L3F;ENSP00000404205:L3F|.	ENSP00000356496:L599F|.	L|W	+|+	3|2	2|0	UTRN|UTRN	145160706|145160706	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	1.834000|1.834000	0.39171|0.39171	1.401000|1.401000	0.46761|0.46761	0.561000|0.561000	0.74099|0.74099	TTG|TGG		PASS	0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			18	41	18	41	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653965	159653965	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr6:159653965G>T	ENST00000297267.9	+	11	2621	c.2421G>T	c.(2419-2421)acG>acT	p.T807T	FNDC1_ENST00000340366.6_Silent_p.T744T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	807					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T807T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGCCCAGACGCTGCGGGCCC	0.647																																						uc010kjv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2419-2421)ACG>ACT		fibronectin type III domain containing 1							15.0	19.0	18.0					6																	159653965		2013	4158	6171	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653965G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2421G>T	6.37:g.159653965G>T						FNDC1_uc010kjw.1_Silent_p.T692T	p.T807T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2621	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	807					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2421G>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	8.126	0.781975	0.16189	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.77	-9.55	0.00569	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13442	-1.0509	4	.	.	.	-2.5966	2.1957	0.03910	0.309:0.3842:0.102:0.2048	.	.	.	.	S	703	.	.	A	+	1	0	FNDC1	159573955	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-1.697000	0.01910	-2.446000	0.00546	-0.897000	0.02905	GCT		PASS	0.647	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	9	3	9	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352366	5352366	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:5352366T>A	ENST00000430969.1	-	27	8504	c.8156A>T	c.(8155-8157)aAg>aTg	p.K2719M	TNRC18_ENST00000399537.4_Missense_Mutation_p.K2719M	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2719							chromatin binding (GO:0003682)	p.K2719M(2)|p.R1232*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGCGTCTTCTTGCCTGGGGA	0.756																																						uc003soi.3																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(8155-8157)AAG>ATG		trinucleotide repeat containing 18							4.0	6.0	5.0					7																	5352366		1144	2554	3698	SO:0001583	missense	84629						DNA binding	g.chr7:5352366T>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8156A>T	7.37:g.5352366T>A	ENSP00000395538:p.Lys2719Met						p.K2719M	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8505	-		Ovarian(82;0.142)	2719					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8156A>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.232|7.232	0.599616|0.599616	0.13939|0.13939	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.13089|.	2.62;2.62|.	4.54|4.54	2.09|2.09	0.27110|0.27110	.|.	.|1.060650	.|0.07527	.|N	.|0.911557	T|.	0.26122|.	0.0637|.	L|L	0.44542|0.44542	1.39|1.39	0.23940|0.23940	N|N	0.996402|0.996402	B|.	0.26744|.	0.158|.	B|.	0.22880|.	0.042|.	T|.	0.30909|.	-0.9962|.	9|.	0.48119|0.14252	T|T	0.1|0.57	.|.	1.3683|1.3683	0.02205|0.02205	0.1423:0.1643:0.1472:0.5462|0.1423:0.1643:0.1472:0.5462	.|.	2719|.	O15417|.	TNC18_HUMAN|.	M|X	2719|1232	ENSP00000382452:K2719M;ENSP00000395538:K2719M|.	ENSP00000382452:K2719M|ENSP00000382459:R1232X	K|R	-|-	2|1	0|2	TNRC18|TNRC18	5318892|5318892	1.000000|1.000000	0.71417|0.71417	0.776000|0.776000	0.31678|0.31678	0.007000|0.007000	0.05969|0.05969	1.098000|1.098000	0.31000|0.31000	0.120000|0.120000	0.18254|0.18254	-0.425000|-0.425000	0.05940|0.05940	AAG|AGA		PASS	0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	7	8	7	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18788634	18788634	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:18788634C>T	ENST00000432645.2	+	13	1907	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	HDAC9_ENST00000406451.4_Missense_Mutation_p.A636V|HDAC9_ENST00000401921.1_Missense_Mutation_p.A595V|HDAC9_ENST00000441542.2_Missense_Mutation_p.A639V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	636	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A639V(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAGGAATTGCCTATGACCCC	0.423																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1906-1908)GCC>GTC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						78.0	75.0	76.0					7																	18788634		1921	4137	6058	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788634C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1907C>T	7.37:g.18788634C>T	ENSP00000410337:p.Ala636Val					HDAC9_uc003sue.2_Missense_Mutation_p.A636V|HDAC9_uc011jyd.1_Missense_Mutation_p.A636V|HDAC9_uc003sui.2_Missense_Mutation_p.A639V|HDAC9_uc003suj.2_Missense_Mutation_p.A595V|HDAC9_uc003sua.1_Missense_Mutation_p.A614V|HDAC9_uc010kue.1_Missense_Mutation_p.A291V	p.A636V	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			13	1948	+	all_lung(11;0.187)		636			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1907C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375282	0.11409	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.49720	0.78;0.78;0.81;0.77	5.3	3.35	0.38373	Histone deacetylase domain (1);	0.231131	0.30686	N	0.009094	T	0.15912	0.0383	N	0.02802	-0.49	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001;0.002;0.001	T	0.20207	-1.0282	10	0.02654	T	1	-14.2914	4.4203	0.11477	0.0:0.5879:0.0:0.4121	.	636;548;595;639;636;636;614	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	V	636;595;636;639;548	ENSP00000384657:A636V;ENSP00000383912:A595V;ENSP00000410337:A636V;ENSP00000408617:A639V	ENSP00000339165:A548V	A	+	2	0	HDAC9	18755159	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.301000	0.51842	1.461000	0.47929	0.563000	0.77884	GCC		PASS	0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			12	15	12	15	---	---	---	---
FKBP14	55033	broad.mit.edu	37	7	30066010	30066010	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:30066010G>T	ENST00000222803.5	-	1	290	c.115C>A	c.(115-117)Cat>Aat	p.H39N	AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000449726.1_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	39					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.H39N(1)		breast(1)|large_intestine(2)|lung(2)	5						GTCTTGCGATGGCAGATGAAT	0.468																																						uc003tal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CAT>AAT		FK506 binding protein 14 precursor							143.0	138.0	140.0					7																	30066010		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066010G>T	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.115C>A	7.37:g.30066010G>T	ENSP00000222803:p.His39Asn					PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	p.H39N	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			1	259	-			39						Missense_Mutation	SNP	ENST00000222803.5	37	c.115C>A	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131046	0.37630	.	.	ENSG00000106080	ENST00000222803	T	0.39592	1.07	5.9	5.9	0.94986	.	0.239569	0.49916	D	0.000121	T	0.15825	0.0381	N	0.01048	-1.04	0.50813	D	0.999897	P	0.38677	0.642	B	0.31495	0.131	T	0.30179	-0.9987	10	0.12766	T	0.61	-22.9079	18.8342	0.92155	0.0:0.0:1.0:0.0	.	39	Q9NWM8	FKB14_HUMAN	N	39	ENSP00000222803:H39N	ENSP00000222803:H39N	H	-	1	0	FKBP14	30032535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.278000	0.58946	2.793000	0.96121	0.591000	0.81541	CAT		PASS	0.468	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		21	57	21	57	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44560416	44560416	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:44560416G>T	ENST00000289547.4	-	14	3139	c.3084C>A	c.(3082-3084)ggC>ggA	p.G1028G	NPC1L1_ENST00000546276.1_Silent_p.G982G|NPC1L1_ENST00000381160.3_Silent_p.G1028G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1028					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.G1028G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATGCTGCCAGGCCGCTGCAAG	0.577																																						uc003tlb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3082-3084)GGC>GGA		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						83.0	78.0	80.0					7																	44560416		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560416G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3084C>A	7.37:g.44560416G>T						NPC1L1_uc003tlc.2_Silent_p.G1028G|NPC1L1_uc011kbw.1_Silent_p.G982G|NPC1L1_uc003tla.2_Silent_p.G31G	p.G1028G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			14	3140	-			1028			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3084C>A	CCDS5491.1																																																																																				PASS	0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		30	45	30	45	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48319311	48319311	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:48319311C>A	ENST00000435803.1	+	18	8544	c.8520C>A	c.(8518-8520)tcC>tcA	p.S2840S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2840					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2785S(1)|p.S2840S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGATAACTTCCACAAGAACTT	0.353																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(8518-8520)TCC>TCA		ATP binding cassette, sub-family A (ABC1),							92.0	94.0	94.0					7																	48319311		1817	4077	5894	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319311C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8520C>A	7.37:g.48319311C>A						ABCA13_uc010kys.1_5'Flank	p.S2840S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	8545	+			2840					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8520C>A	CCDS47584.1																																																																																				PASS	0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		39	58	39	58	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48338050	48338050	+	Missense_Mutation	SNP	A	A	G	rs200969547		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:48338050A>G	ENST00000435803.1	+	23	9311	c.9287A>G	c.(9286-9288)cAt>cGt	p.H3096R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3096					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H3096R(1)|p.H3041R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGACTATCCATAGCATTCTA	0.418																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9286-9288)CAT>CGT		ATP binding cassette, sub-family A (ABC1),		A	ARG/HIS	2,3818		0,2,1908	144.0	135.0	137.0		9287	-0.0	0.0	7		137	0,8240		0,0,4120	yes	missense	ABCA13	NM_152701.3	29	0,2,6028	GG,GA,AA		0.0,0.0524,0.0166	possibly-damaging	3096/5059	48338050	2,12058	1910	4120	6030	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48338050A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9287A>G	7.37:g.48338050A>G	ENSP00000411096:p.His3096Arg					ABCA13_uc010kys.1_Missense_Mutation_p.H170R	p.H3096R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			23	9312	+			3096					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9287A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	4.684	0.127172	0.08981	5.24E-4	0.0	ENSG00000179869	ENST00000435803	D	0.84873	-1.91	5.47	-0.00872	0.14004	.	0.377447	0.21974	N	0.066416	T	0.72779	0.3503	L	0.27053	0.805	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.14023	0.008;0.01	T	0.62006	-0.6945	10	0.66056	D	0.02	.	8.2145	0.31503	0.6316:0.0:0.3684:0.0	.	798;3096	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	3096	ENSP00000411096:H3096R	ENSP00000411096:H3096R	H	+	2	0	ABCA13	48308596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.208000	0.09371	-0.225000	0.09913	-0.256000	0.11100	CAT		PASS	0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	32	15	32	---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65705968	65705968	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:65705968G>T	ENST00000304842.5	+	2	981	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	186					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.G186C(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTCCGAGATGGCCGGGCATC	0.398																																						uc003tuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GGC>TGC		tyrosylprotein sulfotransferase 1							60.0	59.0	60.0					7																	65705968		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705968G>T	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.556G>T	7.37:g.65705968G>T	ENSP00000302413:p.Gly186Cys					TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.G186C|TPST1_uc010laa.2_Missense_Mutation_p.G186C	p.G186C	NM_003596	NP_003587	O60507	TPST1_HUMAN			2	908	+			186			Lumenal (Potential).		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.556G>T	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793763	0.70452	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.46063	0.88	5.75	3.84	0.44239	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.75311	-0.3362	10	0.52906	T	0.07	-14.1314	10.4719	0.44642	0.0729:0.1339:0.7931:0.0	.	186;186	F5H7U7;O60507	.;TPST1_HUMAN	C	186	ENSP00000302413:G186C	ENSP00000302413:G186C	G	+	1	0	TPST1	65343403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.557000	0.90700	1.428000	0.47296	0.585000	0.79938	GGC		PASS	0.398	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		25	52	25	52	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75051285	75051285	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:75051285G>T	ENST00000257665.5	-	11	2975	c.2976C>A	c.(2974-2976)tcC>tcA	p.S992S	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.S750S			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	992	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.S750S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TCTTGATCGTGGACGCAGGTG	0.632																																						uc003udk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2248-2250)TCC>TCA		POM121 membrane glycoprotein (rat)-like							37.0	39.0	38.0					7																	75051285		2203	4300	6503	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051285G>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2976C>A	7.37:g.75051285G>T							p.S750S	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3135	-			992			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2250C>A																																																																																					PASS	0.632	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		7	21	7	21	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75171269	75171269	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:75171269G>T	ENST00000336926.6	-	29	2947	c.2921C>A	c.(2920-2922)aCa>aAa	p.T974K	HIP1_ENST00000434438.2_Missense_Mutation_p.T923K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	974	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.T976K(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTTGATCTGTGTCAGCGTCAT	0.468			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2920-2922)ACA>AAA		huntingtin interacting protein 1							186.0	167.0	173.0					7																	75171269		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75171269G>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2921C>A	7.37:g.75171269G>T	ENSP00000336747:p.Thr974Lys					HIP1_uc011kfz.1_Missense_Mutation_p.T800K	p.T974K	NM_005338	NP_005329	O00291	HIP1_HUMAN			29	2962	-			974			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2921C>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526791	0.85706	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.42900	0.96;0.96	5.04	5.04	0.67666	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.82056	2.57	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;D	0.67900	0.925;0.954	T	0.64162	-0.6472	10	0.29301	T	0.29	-29.4387	16.973	0.86305	0.0:0.0:1.0:0.0	.	923;974	E7ES17;O00291	.;HIP1_HUMAN	K	974;923	ENSP00000336747:T974K;ENSP00000410300:T923K	ENSP00000336747:T974K	T	-	2	0	HIP1	75009205	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.862000	0.69560	2.334000	0.79466	0.563000	0.77884	ACA		PASS	0.468	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		7	98	7	98	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764257	82764257	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:82764257G>T	ENST00000333891.9	-	3	2946	c.2609C>A	c.(2608-2610)cCa>cAa	p.P870Q	PCLO_ENST00000423517.2_Missense_Mutation_p.P870Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P870Q(2)|p.P816Q(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						TTTTGGCATTGGCTTGGCATC	0.517																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2608-2610)CCA>CAA		piccolo isoform 1							192.0	193.0	193.0					7																	82764257		1990	4161	6151	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.chr7:82764257G>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.2609C>A	7.37:g.82764257G>T	ENSP00000334319:p.Pro870Gln					PCLO_uc003uhv.2_Missense_Mutation_p.P870Q	p.P870Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2898	-			816			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2609C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900430	0.17686	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.3	6.07	3.01	0.34805	.	.	.	.	.	T	0.16385	0.0394	L	0.51422	1.61	0.53688	D	0.999975	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.04347	-1.0958	9	0.87932	D	0	.	9.5352	0.39218	0.0728:0.0:0.5455:0.3818	.	870;870	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	816;870;870	ENSP00000334319:P870Q;ENSP00000388393:P870Q	ENSP00000334319:P870Q	P	-	2	0	PCLO	82602193	0.001000	0.12720	0.694000	0.30210	0.992000	0.81027	0.043000	0.13971	0.875000	0.35847	0.655000	0.94253	CCA		PASS	0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		67	143	67	143	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468253	86468253	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:86468253G>A	ENST00000361669.2	+	4	2522	c.1423G>A	c.(1423-1425)Ggt>Agt	p.G475S	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G67S|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G347S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	475			G -> D (in dbSNP:rs17161026).		adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G475S(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAAAATGTAGGTGGAAAGTA	0.443																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1423-1425)GGT>AGT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						76.0	71.0	73.0					7																	86468253		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468253G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1423G>A	7.37:g.86468253G>A	ENSP00000355316:p.Gly475Ser					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G347S|GRM3_uc010leh.2_Missense_Mutation_p.G67S	p.G475S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2522	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		475			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1423G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400915	0.25291	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.93712	-3.27;-3.27;-3.27	5.91	4.12	0.48240	.	0.349545	0.36591	N	0.002518	D	0.87696	0.6242	L	0.34521	1.04	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.81064	-0.1102	10	0.34782	T	0.22	.	9.253	0.37566	0.2071:0.0:0.7929:0.0	.	67;347;475	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	475;67;347	ENSP00000355316:G475S;ENSP00000444064:G67S;ENSP00000441407:G347S	ENSP00000355316:G475S	G	+	1	0	GRM3	86306189	0.994000	0.37717	0.950000	0.38849	0.898000	0.52572	2.646000	0.46630	0.845000	0.35118	0.655000	0.94253	GGT		PASS	0.443	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			14	13	14	13	---	---	---	---
GJC3	349149	broad.mit.edu	37	7	99526808	99526808	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:99526808C>A	ENST00000312891.2	-	1	435	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	146					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)		p.V146F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCTCCAGGACAAGCCGAGCC	0.617																																						uc011kjd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GTC>TTC		gap junction protein, gamma 3, 30.2kDa							66.0	70.0	69.0					7																	99526808		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99526808C>A	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.436G>T	7.37:g.99526808C>A	ENSP00000325775:p.Val146Phe						p.V146F	NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN			1	436	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		146			Helical; (Potential).		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.436G>T	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140723	0.21205	.	.	ENSG00000176402	ENST00000312891	D	0.97959	-4.63	4.77	4.77	0.60923	.	0.836991	0.09962	N	0.733293	D	0.94525	0.8237	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.45037	0.467	D	0.89209	0.3563	10	0.59425	D	0.04	.	15.6948	0.77488	0.0:1.0:0.0:0.0	.	146	Q8NFK1	CXG3_HUMAN	F	146	ENSP00000325775:V146F	ENSP00000325775:V146F	V	-	1	0	GJC3	99364744	0.001000	0.12720	0.933000	0.37362	0.200000	0.23975	0.749000	0.26320	2.639000	0.89480	0.655000	0.94253	GTC		PASS	0.617	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		26	61	26	61	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99786584	99786584	+	Silent	SNP	C	C	A	rs371577041		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:99786584C>A	ENST00000426455.1	+	7	1067	c.660C>A	c.(658-660)ctC>ctA	p.L220L	STAG3_ENST00000394018.2_Silent_p.L162L|STAG3_ENST00000317296.5_Silent_p.L220L	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	220					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L220L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCCTGCTCACTGGCCTCT	0.527																																						uc003utx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(658-660)CTC>CTA		stromal antigen 3							117.0	112.0	114.0					7																	99786584		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99786584C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.660C>A	7.37:g.99786584C>A						STAG3_uc010lgs.1_Silent_p.L8L|STAG3_uc011kjk.1_Silent_p.L162L	p.L220L	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			7	815	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		220					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.660C>A	CCDS34703.1																																																																																				PASS	0.527	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		18	62	18	62	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100552385	100552385	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:100552385C>T	ENST00000319509.7	+	1	1136	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2044	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.T379I(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTACTCTTACTACATATATG	0.473																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							618.0	571.0	585.0					7																	100552385		876	1991	2867	SO:0001583	missense	0							g.chr7:100552385C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1136C>T	7.37:g.100552385C>T	ENSP00000324834:p.Thr379Ile					uc003uxl.1_Missense_Mutation_p.T279I								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.1636C>T		.	.	.	.	.	.	.	.	.	.	C	8.326	0.825448	0.16749	.	.	ENSG00000169894	ENST00000319509	T	0.09073	3.02	1.57	1.57	0.23409	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.31099	N	0.710612	B	0.02656	0.0	B	0.01281	0.0	T	0.13202	-1.0518	8	0.45353	T	0.12	-1.8194	9.0703	0.36488	0.0:1.0:0.0:0.0	.	2044	Q02505	MUC3A_HUMAN	I	379	ENSP00000324834:T379I	ENSP00000324834:T379I	T	+	2	0	MUC3A	100390321	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.909000	0.28558	1.154000	0.42482	0.411000	0.27672	ACT		PASS	0.473	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		71	202	71	202	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100817922	100817922	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:100817922A>G	ENST00000300303.2	-	2	405	c.167T>C	c.(166-168)gTg>gCg	p.V56A	NAT16_ENST00000455377.1_Missense_Mutation_p.V56A|NAT16_ENST00000443096.1_Missense_Mutation_p.V56A	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	56	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)	p.V56A(1)									CGTGGCCACCACGAAGTCCAA	0.662																																						uc003uxy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)GTG>GCG		hypothetical protein LOC375607							69.0	64.0	66.0					7																	100817922		2203	4300	6503	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100817922A>G	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.167T>C	7.37:g.100817922A>G	ENSP00000300303:p.Val56Ala					C7orf52_uc003uxz.1_Missense_Mutation_p.V56A|C7orf52_uc003uya.1_Missense_Mutation_p.V56A|C7orf52_uc003uyb.1_Missense_Mutation_p.V56A	p.V56A	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			2	406	-	Lung NSC(181;0.168)|all_lung(186;0.215)		56			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.167T>C	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788658	0.31685	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.46819	0.9;0.9;0.9;0.86	3.82	3.82	0.43975	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.466331	0.18444	U	0.141060	T	0.40297	0.1111	L	0.34521	1.04	0.27554	N	0.950402	P;B	0.50156	0.932;0.356	P;B	0.45428	0.48;0.115	T	0.29640	-1.0005	10	0.56958	D	0.05	.	10.5659	0.45173	1.0:0.0:0.0:0.0	.	56;56	B3KRS2;Q8N8M0	.;CG052_HUMAN	A	56	ENSP00000300303:V56A;ENSP00000395125:V56A;ENSP00000391769:V56A;ENSP00000394435:V56A	ENSP00000300303:V56A	V	-	2	0	C7orf52	100604642	0.929000	0.31497	0.944000	0.38274	0.939000	0.58152	2.143000	0.42187	1.605000	0.50152	0.334000	0.21626	GTG		PASS	0.662	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		9	51	9	51	---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105177043	105177043	+	Silent	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:105177043T>C	ENST00000257700.2	+	3	351	c.120T>C	c.(118-120)agT>agC	p.S40S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	40			S -> C (in dbSNP:rs11556986).		G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S40S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTATTGGAAGTAAACAAGTCA	0.318																																						uc003vda.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(118-120)AGT>AGC		RAD50 interactor 1							180.0	185.0	183.0					7																	105177043		2203	4300	6503	SO:0001819	synonymous_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177043T>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.120T>C	7.37:g.105177043T>C						RINT1_uc010ljj.1_5'UTR	p.S40S	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			3	351	+			40					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	c.120T>C	CCDS34726.1																																																																																				PASS	0.318	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		5	138	5	138	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107002556	107002556	+	Splice_Site	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:107002556C>A	ENST00000347053.3	-	10	1092		c.e10-1		COG5_ENST00000393603.2_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.?(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GATGTTGTACCTTAAATGAAA	0.318																																						uc003ved.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.e10-1		component of oligomeric golgi complex 5 isoform							69.0	67.0	68.0					7																	107002556		2200	4296	6496	SO:0001630	splice_region_variant	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107002556C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1042-1G>T	7.37:g.107002556C>A						COG5_uc003vec.2_Splice_Site_p.V348_splice|COG5_uc003vee.2_Splice_Site_p.V348_splice	p.V348_splice	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			10	1567	-								A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Splice_Site	SNP	ENST00000347053.3	37	c.1042_splice	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252551	0.80135	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.893	0.70623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COG5	106789792	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.629000	0.74267	2.793000	0.96121	0.655000	0.94253	.		PASS	0.318	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		Intron	6	16	6	16	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107746981	107746981	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:107746981C>T	ENST00000388781.3	-	7	711	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	LAMB4_ENST00000414450.2_Missense_Mutation_p.E210K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E210K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E210K|LAMB4_ENST00000418464.1_Missense_Mutation_p.E210K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	210	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.E210K(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAGGGTTTTCAATTTCAAAA	0.289																																						uc010ljo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(628-630)GAA>AAA		laminin, beta 4 precursor							41.0	43.0	42.0					7																	107746981		2200	4300	6500	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107746981C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.628G>A	7.37:g.107746981C>T	ENSP00000373433:p.Glu210Lys					LAMB4_uc003vey.2_Missense_Mutation_p.E210K	p.E210K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			7	712	-			210			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.628G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494342	0.64186	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.81	3.93	0.45458	Laminin, N-terminal (3);	0.132396	0.33813	N	0.004524	T	0.74558	0.3732	L	0.41415	1.275	0.51482	D	0.999927	D	0.58268	0.982	P	0.53988	0.739	T	0.74931	-0.3496	10	0.45353	T	0.12	.	13.1071	0.59253	0.0:0.923:0.0:0.077	.	210	A4D0S4	LAMB4_HUMAN	K	210	ENSP00000205386:E210K;ENSP00000373433:E210K;ENSP00000373432:E210K;ENSP00000402353:E210K;ENSP00000402265:E210K	ENSP00000205386:E210K	E	-	1	0	LAMB4	107534217	0.998000	0.40836	0.996000	0.52242	0.940000	0.58332	2.468000	0.45102	1.255000	0.44051	-0.141000	0.14075	GAA		PASS	0.289	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		11	24	11	24	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120780971	120780971	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:120780971A>T	ENST00000310396.5	+	15	2257	c.1790A>T	c.(1789-1791)tAc>tTc	p.Y597F	CPED1_ENST00000423795.1_Missense_Mutation_p.Y377F|CPED1_ENST00000450913.2_Missense_Mutation_p.Y597F	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	597						endoplasmic reticulum (GO:0005783)		p.Y597F(1)									AAAGATTATTACTGTGAAGTC	0.413																																						uc003vjq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1789-1791)TAC>TTC		hypothetical protein LOC79974 isoform 1							83.0	77.0	79.0					7																	120780971		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120780971A>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1790A>T	7.37:g.120780971A>T	ENSP00000309772:p.Tyr597Phe					C7orf58_uc003vjs.3_Missense_Mutation_p.Y597F|C7orf58_uc003vjt.3_Missense_Mutation_p.Y377F	p.Y597F	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			15	2237	+	all_neural(327;0.117)		597					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1790A>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010390	0.54361	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.30714	1.52;1.52;1.52	5.58	3.04	0.35103	.	0.302059	0.32287	N	0.006313	T	0.46171	0.1379	M	0.67953	2.075	0.80722	D	1	P;P;P	0.49961	0.93;0.93;0.923	P;P;P	0.58172	0.677;0.677;0.834	T	0.39800	-0.9596	10	0.41790	T	0.15	.	12.2245	0.54453	0.7316:0.2684:0.0:0.0	.	377;597;597	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	F	597;597;377	ENSP00000309772:Y597F;ENSP00000406122:Y597F;ENSP00000415573:Y377F	ENSP00000309772:Y597F	Y	+	2	0	C7orf58	120568207	1.000000	0.71417	0.999000	0.59377	0.736000	0.42039	2.372000	0.44257	0.927000	0.37143	0.460000	0.39030	TAC		PASS	0.413	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		15	32	15	32	---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130021492	130021492	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:130021492G>T	ENST00000011292.3	+	3	319	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	57					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A57S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCGGGGGCCTGCCCACCCTGG	0.667																																						uc003vpx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GCC>TCC		carboxypeptidase A1 precursor							36.0	31.0	33.0					7																	130021492		2203	4299	6502	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021492G>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.169G>T	7.37:g.130021492G>T	ENSP00000011292:p.Ala57Ser					CPA1_uc011kpf.1_Intron|CPA1_uc003vpw.2_Missense_Mutation_p.A57S	p.A57S	NM_001868	NP_001859	P15085	CBPA1_HUMAN			3	241	+	Melanoma(18;0.0435)		57					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.169G>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.373016	0.05034	.	.	ENSG00000091704	ENST00000011292	T	0.11821	2.74	5.4	-6.54	0.01860	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.755708	0.13522	N	0.381630	T	0.03053	0.0090	N	0.04355	-0.22	0.19575	N	0.999962	B	0.09022	0.002	B	0.21151	0.033	T	0.36480	-0.9746	10	0.02654	T	1	.	2.3353	0.04246	0.4134:0.0918:0.3122:0.1826	.	57	P15085	CBPA1_HUMAN	S	57	ENSP00000011292:A57S	ENSP00000011292:A57S	A	+	1	0	CPA1	129808728	0.000000	0.05858	0.000000	0.03702	0.799000	0.45148	-1.025000	0.03600	-1.030000	0.03312	-0.258000	0.10820	GCC		PASS	0.667	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		4	31	4	31	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131853253	131853253	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:131853253G>T	ENST00000359827.3	-	22	5058	c.4096C>A	c.(4096-4098)Ctg>Atg	p.L1366M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1366M			Q9HCM2	PLXA4_HUMAN	plexin A4	1366					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.L1366M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGAAGGACAGCAGGAACACC	0.602																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4096-4098)CTG>ATG		plexin A4 isoform 1							87.0	91.0	90.0					7																	131853253		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853253G>T	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.4096C>A	7.37:g.131853253G>T	ENSP00000352882:p.Leu1366Met						p.L1366M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4325	-			1366			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4096C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957683	0.92726	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15139	2.45;2.45	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53578	-0.8419	10	0.59425	D	0.04	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1366	Q9HCM2	PLXA4_HUMAN	M	1366	ENSP00000323194:L1366M;ENSP00000352882:L1366M	ENSP00000323194:L1366M	L	-	1	2	PLXNA4	131503793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.484000	0.53201	2.582000	0.87167	0.462000	0.41574	CTG		PASS	0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		20	21	20	21	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137270076	137270076	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:137270076G>T	ENST00000288490.5	-	14	1442	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H	DGKI_ENST00000446122.1_Missense_Mutation_p.P481H|DGKI_ENST00000424189.2_Missense_Mutation_p.P481H|DGKI_ENST00000453654.2_Missense_Mutation_p.P181H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	481	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.P481H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTAGAAACAGGTTCATCAGT	0.478																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1441-1443)CCT>CAT		diacylglycerol kinase, iota							116.0	106.0	110.0					7																	137270076		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137270076G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1442C>A	7.37:g.137270076G>T	ENSP00000288490:p.Pro481His					DGKI_uc003vtu.2_Missense_Mutation_p.P181H	p.P481H	NM_004717	NP_004708	O75912	DGKI_HUMAN			14	1443	-			481			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1442C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939051	0.92526	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.42131	0.98;0.98;0.98	5.81	5.81	0.92471	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.68930	-0.5279	10	0.87932	D	0	.	18.8499	0.92224	0.0:0.0:1.0:0.0	.	181;481	E9PFX6;O75912	.;DGKI_HUMAN	H	181;429;481;481;481	ENSP00000392161:P181H;ENSP00000288490:P481H;ENSP00000399131:P481H	ENSP00000288490:P481H	P	-	2	0	DGKI	136920616	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.610000	0.98337	2.736000	0.93811	0.655000	0.94253	CCT		PASS	0.478	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		21	43	21	43	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137304674	137304674	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:137304674C>A	ENST00000288490.5	-	8	889	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	DGKI_ENST00000446122.1_Missense_Mutation_p.V297L|DGKI_ENST00000424189.2_Missense_Mutation_p.V297L|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	297					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.V297L(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGCAGGTCACCTTATTGTGA	0.453																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(889-891)GTG>TTG		diacylglycerol kinase, iota							116.0	110.0	112.0					7																	137304674		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137304674C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.889G>T	7.37:g.137304674C>A	ENSP00000288490:p.Val297Leu					DGKI_uc003vtu.2_5'UTR	p.V297L	NM_004717	NP_004708	O75912	DGKI_HUMAN			8	890	-			297			Phorbol-ester/DAG-type 2.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.889G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916529	0.92249	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.35789	1.29;1.48	6.08	6.08	0.98989	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.52364	1.645	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	T	0.25187	-1.0139	10	0.33940	T	0.23	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	297	O75912	DGKI_HUMAN	L	245;297;297;297	ENSP00000288490:V297L;ENSP00000399131:V297L	ENSP00000288490:V297L	V	-	1	0	DGKI	136955214	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GTG		PASS	0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		29	52	29	52	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829579	146829579	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:146829579G>T	ENST00000361727.3	+	8	1842	c.1326G>T	c.(1324-1326)atG>atT	p.M442I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	442	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.M442I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGACCAAGATGAGCCAAATCG	0.403										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1324-1326)ATG>ATT		cell recognition molecule Caspr2 precursor							116.0	98.0	104.0					7																	146829579		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829579G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1326G>T	7.37:g.146829579G>T	ENSP00000354778:p.Met442Ile	HNSCC(39;0.1)					p.M442I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1842	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	442			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1326G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403923	0.25291	.	.	ENSG00000174469	ENST00000361727	T	0.77358	-1.09	5.7	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.700066	0.13015	N	0.420586	T	0.56108	0.1963	N	0.04508	-0.205	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44345	-0.9334	10	0.33940	T	0.23	.	8.9819	0.35970	0.2459:0.0:0.7541:0.0	.	442	Q9UHC6	CNTP2_HUMAN	I	442	ENSP00000354778:M442I	ENSP00000354778:M442I	M	+	3	0	CNTNAP2	146460512	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.990000	0.40717	0.743000	0.32719	0.591000	0.81541	ATG		PASS	0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			20	45	20	45	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069192	150069192	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr7:150069192G>T	ENST00000425389.2	+	1	940	c.862G>T	c.(862-864)Ggc>Tgc	p.G288C	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.G288C|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.G288C|REPIN1_ENST00000444957.1_Missense_Mutation_p.G288C|REPIN1_ENST00000489432.2_Missense_Mutation_p.G345C	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	288					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G288C(1)|p.G345C(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CATCCACACCGGCGAGAAGCC	0.657																																						uc010lpq.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(862-864)GGC>TGC		replication initiator 1 isoform 1							16.0	20.0	19.0					7																	150069192		2174	4276	6450	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069192G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.862G>T	7.37:g.150069192G>T	ENSP00000388287:p.Gly288Cys					REPIN1_uc003whd.2_Missense_Mutation_p.G277C|REPIN1_uc010lpr.1_Missense_Mutation_p.G345C|REPIN1_uc003whc.2_Missense_Mutation_p.G288C|REPIN1_uc003whe.2_Missense_Mutation_p.G288C	p.G288C	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1351	+	Ovarian(565;0.183)|Melanoma(164;0.226)		288					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.862G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995431	0.74703	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.7	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57403	0.2051	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66488	-0.5911	9	0.87932	D	0	-15.9494	15.188	0.73020	0.0:0.0:1.0:0.0	.	345;288	C9J3L7;Q9BWE0	.;REPI1_HUMAN	C	288;288;288;345;347;348;288	ENSP00000445016:G288C;ENSP00000380451:G288C;ENSP00000407714:G288C;ENSP00000417291:G345C;ENSP00000419789:G347C;ENSP00000419872:G348C;ENSP00000388287:G288C	ENSP00000380451:G288C	G	+	1	0	REPIN1	149700125	1.000000	0.71417	0.881000	0.34555	0.953000	0.61014	5.938000	0.70170	2.440000	0.82611	0.462000	0.41574	GGC		PASS	0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		6	8	6	8	---	---	---	---
C8orf58	541565	broad.mit.edu	37	8	22458472	22458472	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:22458472G>T	ENST00000289989.5	+	2	192	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	AC037459.4_ENST00000430850.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.A40S|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	40								p.A40S(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGACGCTGCCCACGGGTG	0.632																																						uc003xce.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)GCC>TCC		hypothetical protein LOC541565							35.0	39.0	38.0					8																	22458472		2200	4298	6498	SO:0001583	missense	541565							g.chr8:22458472G>T	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.118G>T	8.37:g.22458472G>T	ENSP00000289989:p.Ala40Ser					C8orf58_uc011kzl.1_Missense_Mutation_p.A40S|C8orf58_uc003xcf.2_Missense_Mutation_p.A40S	p.A40S	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	230	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	40					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.118G>T	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	17.23	3.337953	0.60963	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989	.	.	.	4.63	0.875	0.19130	.	0.867561	0.09769	N	0.758188	T	0.35828	0.0945	M	0.63428	1.95	0.09310	N	1	P;P	0.46064	0.872;0.872	P;P	0.45856	0.495;0.495	T	0.19614	-1.0300	9	0.31617	T	0.26	-0.4483	4.599	0.12343	0.2404:0.1892:0.5703:0.0	.	40;40	Q8NAV2-2;Q8NAV2	.;CH058_HUMAN	S	109;40;40	.	ENSP00000399696:A109S	A	+	1	0	AC037459.4;C8orf58	22514417	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.368000	0.20399	0.248000	0.21435	0.448000	0.29417	GCC		PASS	0.632	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		16	8	16	8	---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27358525	27358525	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:27358525C>A	ENST00000521400.1	+	2	614	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	EPHX2_ENST00000380476.3_Missense_Mutation_p.Q9K|EPHX2_ENST00000517536.1_Missense_Mutation_p.Q62K|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000518379.1_Missense_Mutation_p.Q62K|EPHX2_ENST00000520666.1_3'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	62	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.Q62K(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CACACTTTCCCAGGTGAGGGG	0.522																																						uc003xfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)CAG>AAG		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						87.0	80.0	83.0					8																	27358525		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27358525C>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.184C>A	8.37:g.27358525C>A	ENSP00000430269:p.Gln62Lys					EPHX2_uc010lut.1_Missense_Mutation_p.Q62K|EPHX2_uc010luu.2_Missense_Mutation_p.Q62K|EPHX2_uc010luv.2_5'UTR|EPHX2_uc003xfv.2_Missense_Mutation_p.Q9K|EPHX2_uc010luw.2_Intron	p.Q62K	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	2	265	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	62			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.184C>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253661	0.59212	.	.	ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000517536;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.09538	2.97;2.97;3.81;2.97;2.97	3.67	3.67	0.42095	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.113706	0.64402	D	0.000009	T	0.15003	0.0362	L	0.59436	1.845	0.49915	D	0.99983	B;P;B	0.46987	0.108;0.888;0.186	B;P;B	0.45681	0.133;0.49;0.028	T	0.00986	-1.1490	10	0.52906	T	0.07	-7.1606	11.191	0.48685	0.0:1.0:0.0:0.0	.	62;62;62	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	62;62;62;9;62;62	ENSP00000430269:Q62K;ENSP00000430779:Q62K;ENSP00000428875:Q62K;ENSP00000369843:Q9K;ENSP00000427956:Q62K	ENSP00000369843:Q9K	Q	+	1	0	EPHX2	27414442	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	3.375000	0.52410	2.332000	0.79248	0.467000	0.42956	CAG		PASS	0.522	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			21	40	21	40	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28385175	28385175	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:28385175G>T	ENST00000240093.3	+	5	1376	c.898G>T	c.(898-900)Ggc>Tgc	p.G300C	FZD3_ENST00000537916.1_Missense_Mutation_p.G300C|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	300					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G300C(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TACTATGGCTGGCAGTGTATG	0.413																																						uc003xgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(898-900)GGC>TGC		frizzled 3 precursor							90.0	90.0	90.0					8																	28385175		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385175G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.898G>T	8.37:g.28385175G>T	ENSP00000240093:p.Gly300Cys					FZD3_uc010lvb.2_Missense_Mutation_p.G300C	p.G300C	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1376	+		Ovarian(32;2.06e-05)	300			Helical; Name=3; (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.898G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673545	0.67928	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.83992	-1.79;-1.79	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91891	0.7433	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93269	0.6650	10	0.87932	D	0	.	16.8549	0.86003	0.0:0.0:1.0:0.0	.	300	Q9NPG1	FZD3_HUMAN	C	300	ENSP00000437489:G300C;ENSP00000240093:G300C	ENSP00000240093:G300C	G	+	1	0	FZD3	28441094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.308000	0.77769	0.563000	0.77884	GGC		PASS	0.413	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		14	79	14	79	---	---	---	---
UBXN8	7993	broad.mit.edu	37	8	30623785	30623785	+	RNA	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:30623785C>A	ENST00000519246.1	+	0	886							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.L229I(1)		central_nervous_system(1)|lung(2)	3						CCACATATCTCTATACAGCCT	0.458																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CTA>ATA		reproduction 8							79.0	75.0	76.0					8																	30623785		1879	4101	5980			7993				single fertilization			g.chr8:30623785C>A	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30623785C>A						UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	p.L230I	NM_005671	NP_005662	O00124	UBXN8_HUMAN			10	705	+			230			UBX.		Q7Z6F2	Missense_Mutation	SNP	ENST00000519246.1	37	c.688C>A																																																																																					PASS	0.458	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		12	29	12	29	---	---	---	---
PURG	29942	broad.mit.edu	37	8	30889972	30889972	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:30889972C>A	ENST00000475541.1	-	1	1259	c.327G>T	c.(325-327)ctG>ctT	p.L109L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L109L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	109						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L109L(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTGCCACAGACAGGGAGAGGG	0.577																																						uc003xin.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(325-327)CTG>CTT		purine-rich element binding protein G isoform A							80.0	75.0	77.0					8																	30889972		2203	4300	6503	SO:0001819	synonymous_variant	29942					nucleus	DNA binding	g.chr8:30889972C>A	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.327G>T	8.37:g.30889972C>A						WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.L109L	p.L109L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	346	-			109			By similarity.		Q8TE64	Silent	SNP	ENST00000475541.1	37	c.327G>T	CCDS6081.1																																																																																				PASS	0.577	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		15	63	15	63	---	---	---	---
STAR	6770	broad.mit.edu	37	8	38005748	38005748	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:38005748G>C	ENST00000276449.4	-	3	722	c.276C>G	c.(274-276)aaC>aaG	p.N92K	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	92	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.N92K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		AGCCCTCTTGGTTGCTAAGGA	0.582																																						uc003xkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(274-276)AAC>AAG		steroidogenic acute regulatory protein isoform							103.0	70.0	81.0					8																	38005748		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005748G>C	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.276C>G	8.37:g.38005748G>C	ENSP00000276449:p.Asn92Lys					STAR_uc010lwc.1_Missense_Mutation_p.N54K	p.N92K	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	540	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	92			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.276C>G	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.25|13.25	2.181562|2.181562	0.38511|0.38511	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753;ENST00000521236|ENST00000522050	T;T|.	0.77620|.	-1.11;-1.11|.	5.43|5.43	2.52|2.52	0.30459|0.30459	Lipid-binding START (3);START-like domain (1);|.	0.599519|.	0.19560|.	N|.	0.111347|.	T|T	0.44414|0.44414	0.1292|0.1292	M|M	0.66939|0.66939	2.045|2.045	0.23076|0.23076	N|N	0.998336|0.998336	B;B|.	0.22909|.	0.077;0.077|.	B;B|.	0.26094|.	0.066;0.066|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.66056|.	D|.	0.02|.	-5.3036|-5.3036	5.0859|5.0859	0.14682|0.14682	0.137:0.1181:0.6233:0.1216|0.137:0.1181:0.6233:0.1216	.|.	54;92|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	K|S	92;54;10|71	ENSP00000276449:N92K;ENSP00000430030:N10K|.	ENSP00000276449:N92K|.	N|T	-|-	3|2	2|0	STAR|STAR	38124905|38124905	0.909000|0.909000	0.30893|0.30893	0.676000|0.676000	0.29932|0.29932	0.930000|0.930000	0.56654|0.56654	0.138000|0.138000	0.16016|0.16016	0.724000|0.724000	0.32296|0.32296	0.491000|0.491000	0.48974|0.48974	AAC|ACC		PASS	0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		10	21	10	21	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39613342	39613342	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:39613342T>A	ENST00000265708.4	-	16	1805	c.1702A>T	c.(1702-1704)Agt>Tgt	p.S568C	ADAM2_ENST00000347580.4_Missense_Mutation_p.S549C|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	568	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S568C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGATGTCCACTTATGTTGGCA	0.348																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1702-1704)AGT>TGT		ADAM metallopeptidase domain 2 proprotein							86.0	86.0	86.0					8																	39613342		2202	4299	6501	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613342T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1702A>T	8.37:g.39613342T>A	ENSP00000265708:p.Ser568Cys					ADAM2_uc003xnk.2_Missense_Mutation_p.S549C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Splice_Site_p.D412_splice	p.S568C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1777	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	568			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1702A>T	CCDS34884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.020|0.020	-1.447975|-1.447975	0.01080|0.01080	.|.	.|.	ENSG00000104755|ENSG00000104755	ENST00000379853|ENST00000347580;ENST00000265708	.|T;T	.|0.24151	.|1.87;1.87	4.66|4.66	-9.31|-9.31	0.00646|0.00646	.|ADAM, cysteine-rich (2);	.|.	.|.	.|.	.|.	.|T	.|0.37376	.|0.1001	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	.|P;P	.|0.47106	.|0.867;0.89	.|P;P	.|0.61275	.|0.818;0.886	.|T	.|0.44982	.|-0.9292	.|8	.|.	.|.	.|.	.|.	7.8685|7.8685	0.29552|0.29552	0.0:0.4109:0.3199:0.2691|0.0:0.4109:0.3199:0.2691	.|.	.|549;568	.|Q99965-2;Q99965	.|.;ADAM2_HUMAN	.|C	-1|549;568	.|ENSP00000343854:S549C;ENSP00000265708:S568C	.|.	.|S	-|-	.|1	.|0	ADAM2|ADAM2	39732499|39732499	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.015000|-1.015000	0.03637|0.03637	-1.778000|-1.778000	0.01282|0.01282	-0.408000|-0.408000	0.06270|0.06270	.|AGT		PASS	0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		41	47	41	47	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166484	41166484	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:41166484C>A	ENST00000220772.3	-	1	532	c.195G>T	c.(193-195)ctG>ctT	p.L65L	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	65	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R65R(1)|p.L65L(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GGCACAGCCGCAGGTCCGCGG	0.642																																						uc003xnt.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(193-195)CTG>CTT		secreted frizzled-related protein 1 precursor							46.0	47.0	47.0					8																	41166484		2203	4300	6503	SO:0001819	synonymous_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166484C>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.195G>T	8.37:g.41166484C>A							p.L65L	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	497	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	65			FZ.		O00546|O14779	Silent	SNP	ENST00000220772.3	37	c.195G>T	CCDS34886.1																																																																																				PASS	0.642	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		11	11	11	11	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41519387	41519387	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:41519387C>A	ENST00000347528.4	-	41	5634	c.5551G>T	c.(5551-5553)Gta>Tta	p.V1851L	ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.V126L|ANK1_ENST00000396942.1_Missense_Mutation_p.V1851L|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000289734.7_Intron|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000314214.8_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000396945.1_Intron	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1851	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.?(2)|p.V1851L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCCCTCTACAGTCACCTCC	0.582																																						uc003xok.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(5551-5553)GTA>TTA		ankyrin 1 isoform 1							50.0	57.0	55.0					8																	41519387		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519387C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5551G>T	8.37:g.41519387C>A	ENSP00000339620:p.Val1851Leu					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Intron|ANK1_uc003xoj.2_Intron|ANK1_uc003xol.2_Missense_Mutation_p.V1689L|ANK1_uc003xom.2_Intron|ANK1_uc011lcl.1_Intron|ANK1_uc003xod.2_Intron|ANK1_uc003xoc.2_Missense_Mutation_p.V126L|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	p.V1851L	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5635	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1851			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5551G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320337	0.05386	.	.	ENSG00000029534	ENST00000347528;ENST00000396942;ENST00000522543	T;T;D	0.85955	-0.06;-0.08;-2.05	5.94	2.68	0.31781	.	0.648525	0.12254	U	0.485395	T	0.59595	0.2205	N	0.04090	-0.28	0.25509	N	0.987474	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.52837	-0.8522	10	0.05351	T	0.99	.	1.6977	0.02866	0.1899:0.2896:0.3691:0.1514	.	1689;1851;126	P16157-4;P16157;E5RFL7	.;ANK1_HUMAN;.	L	1851;1851;126	ENSP00000339620:V1851L;ENSP00000380147:V1851L;ENSP00000430368:V126L	ENSP00000339620:V1851L	V	-	1	0	ANK1	41638544	0.739000	0.28196	0.675000	0.29917	0.051000	0.14879	0.498000	0.22530	0.786000	0.33708	0.561000	0.74099	GTA		PASS	0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		16	42	16	42	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321195	52321195	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:52321195C>A	ENST00000356297.4	-	17	3089	c.2989G>T	c.(2989-2991)Gtt>Ttt	p.V997F	PXDNL_ENST00000543296.1_Missense_Mutation_p.V997F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	997					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V196F(1)|p.V997F(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCTGGTAAACCGTGTTTCCC	0.632																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2989-2991)GTT>TTT		peroxidasin homolog-like precursor							25.0	31.0	29.0					8																	52321195		2085	4223	6308	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321195C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2989G>T	8.37:g.52321195C>A	ENSP00000348645:p.Val997Phe					PXDNL_uc003xqt.3_RNA	p.V997F	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3090	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	997					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2989G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266815	0.23136	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.70869	-0.52;-0.52	3.98	-4.17	0.03857	.	0.695844	0.12187	N	0.491541	T	0.68897	0.3051	M	0.78285	2.405	0.09310	N	1	D	0.53151	0.958	P	0.49597	0.616	T	0.62062	-0.6933	10	0.72032	D	0.01	.	3.0427	0.06143	0.1066:0.3776:0.3141:0.2017	.	997	A1KZ92	PXDNL_HUMAN	F	997	ENSP00000348645:V997F;ENSP00000444865:V997F	ENSP00000348645:V997F	V	-	1	0	PXDNL	52483748	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.836000	0.04382	-0.543000	0.06240	-0.344000	0.07964	GTT		PASS	0.632	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	6	6	6	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65527693	65527693	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:65527693G>T	ENST00000310193.3	-	4	1120	c.947C>A	c.(946-948)gCa>gAa	p.A316E	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	316					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.A316E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ACGCACTGCTGCCATAGCTTC	0.488																																						uc003xvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(946-948)GCA>GAA		cytochrome P450, family 7, subfamily B,							98.0	91.0	94.0					8																	65527693		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65527693G>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.947C>A	8.37:g.65527693G>T	ENSP00000310721:p.Ala316Glu						p.A316E	NM_004820	NP_004811	O75881	CP7B1_HUMAN			4	1151	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	316					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.947C>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458462	0.12342	.	.	ENSG00000172817	ENST00000310193	D	0.84223	-1.82	5.93	5.02	0.67125	.	0.465450	0.25484	N	0.030343	T	0.73032	0.3535	N	0.17082	0.46	0.33531	D	0.593685	B	0.14805	0.011	B	0.24006	0.05	T	0.66594	-0.5884	10	0.02654	T	1	-28.8535	15.1353	0.72558	0.0:0.0:0.8335:0.1665	.	316	O75881	CP7B1_HUMAN	E	316	ENSP00000310721:A316E	ENSP00000310721:A316E	A	-	2	0	CYP7B1	65690247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.031000	0.57267	1.426000	0.47256	0.655000	0.94253	GCA		PASS	0.488	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			18	34	18	34	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72984099	72984099	+	Missense_Mutation	SNP	C	C	A	rs368493713		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:72984099C>A	ENST00000262209.4	-	2	322	c.115G>T	c.(115-117)Gtt>Ttt	p.V39F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	39					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.V39F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCTTCAAAAACCACCTAGAGG	0.318																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(115-117)GTT>TTT		ankyrin-like protein 1	Menthol(DB00825)						81.0	75.0	77.0					8																	72984099		2202	4300	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72984099C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.115G>T	8.37:g.72984099C>A	ENSP00000262209:p.Val39Phe						p.V39F	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		2	290	-			39			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.115G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915750	0.33815	.	.	ENSG00000104321	ENST00000262209	T	0.40225	1.04	4.86	2.67	0.31697	.	0.538265	0.19787	N	0.106076	T	0.33904	0.0879	L	0.54323	1.7	0.24756	N	0.992953	B	0.09022	0.002	B	0.08055	0.003	T	0.25641	-1.0126	10	0.49607	T	0.09	-1.6084	6.0839	0.19956	0.0:0.5798:0.0:0.4202	.	39	O75762	TRPA1_HUMAN	F	39	ENSP00000262209:V39F	ENSP00000262209:V39F	V	-	1	0	TRPA1	73146653	0.985000	0.35326	0.977000	0.42913	0.902000	0.53008	0.354000	0.20146	1.046000	0.40249	0.563000	0.77884	GTT		PASS	0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	39	10	39	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74464340	74464340	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:74464340G>T	ENST00000521451.1	-	8	1153	c.777C>A	c.(775-777)gcC>gcA	p.A259A	STAU2_ENST00000517542.1_Silent_p.A441A|STAU2_ENST00000519961.1_Silent_p.A479A|STAU2_ENST00000355780.5_Silent_p.A447A|STAU2_ENST00000522695.1_Silent_p.A447A|STAU2_ENST00000524300.1_Silent_p.A479A|STAU2_ENST00000522509.1_Silent_p.A447A|STAU2_ENST00000521727.1_Silent_p.A459A|STAU2_ENST00000523558.1_Silent_p.A307A|STAU2_ENST00000521210.1_Silent_p.A375A			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	479	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A375A(1)|p.A447A(1)|p.A479A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTAAACCTATGGCTTCAGCTG	0.408																																						uc003xzm.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(1435-1437)GCC>GCA		staufen homolog 2 isoform e							119.0	122.0	121.0					8																	74464340		2203	4300	6503	SO:0001819	synonymous_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74464340G>T	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.777C>A	8.37:g.74464340G>T						STAU2_uc011lfg.1_Silent_p.A307A|STAU2_uc003xzn.2_Silent_p.A447A|STAU2_uc011lfh.1_Silent_p.A375A|STAU2_uc003xzo.2_Silent_p.A479A|STAU2_uc003xzp.2_Silent_p.A447A|STAU2_uc011lfi.1_Silent_p.A441A|STAU2_uc003xzq.2_Silent_p.A259A|STAU2_uc010lzk.2_Silent_p.A447A|STAU2_uc010lzl.1_Silent_p.A307A	p.A479A	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		13	1673	-	Breast(64;0.0138)		479			Required for dendritic transport (By similarity).		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	37	c.1437C>A																																																																																					PASS	0.408	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		31	85	31	85	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113988090	113988090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:113988090C>A	ENST00000297405.5	-	7	1562	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E400*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E440*|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	440						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E440*(1)|p.E400*(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						ACTGCAAGCTCTTTAGTTCTT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(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.(1318-1320)GAG>TAG		CUB and Sushi multiple domains 3 isoform 1							192.0	185.0	187.0					8																	113988090		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113988090C>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.1318G>T	8.37:g.113988090C>A	ENSP00000297405:p.Glu440*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.E400*|CSMD3_uc011lhx.1_Intron	p.E440*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1477	-			440			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.1318G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	40	8.100411	0.98654	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	.	.	.	6.17	6.17	0.99709	.	0.267882	0.25014	N	0.033818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	400;440;440	.	ENSP00000297405:E440X	E	-	1	0	CSMD3	114057266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.335000	0.65929	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		38	103	38	103	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120628554	120628554	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:120628554T>C	ENST00000075322.6	-	8	786	c.728A>G	c.(727-729)cAt>cGt	p.H243R	ENPP2_ENST00000522826.1_Missense_Mutation_p.H243R|ENPP2_ENST00000427067.2_Missense_Mutation_p.H239R|ENPP2_ENST00000259486.6_Missense_Mutation_p.H243R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	243					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H243R(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCCTCGCAGATGAAAAGTGGC	0.363																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(727-729)CAT>CGT		autotaxin isoform 2 preproprotein							124.0	111.0	116.0					8																	120628554		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120628554T>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.728A>G	8.37:g.120628554T>C	ENSP00000075322:p.His243Arg					ENPP2_uc003yos.1_Missense_Mutation_p.H243R|ENPP2_uc010mdd.1_Missense_Mutation_p.H243R	p.H243R	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	814	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		243					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.728A>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448871	0.26074	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.290368	0.40818	N	0.001002	T	0.46600	0.1401	N	0.05259	-0.085	0.25449	N	0.988022	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.002	T	0.28650	-1.0037	10	0.33141	T	0.24	.	7.9179	0.29829	0.0:0.1585:0.0:0.8415	.	243;243;243	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	R	243;239;243;243;225	ENSP00000259486:H243R;ENSP00000403315:H239R;ENSP00000428291:H243R;ENSP00000075322:H243R;ENSP00000428304:H225R	ENSP00000075322:H243R	H	-	2	0	ENPP2	120697735	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	0.769000	0.26604	2.106000	0.64143	0.460000	0.39030	CAT		PASS	0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			14	39	14	39	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139674273	139674273	+	Splice_Site	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:139674273G>T	ENST00000303045.6	-	43	3686	c.3240C>A	c.(3238-3240)gaC>gaA	p.D1080E	COL22A1_ENST00000435777.1_Splice_Site_p.D1060E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1080	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D1080E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGTACTTACGTCCCGGCCGG	0.552										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3238-3240)GAC>GAA		collagen, type XXII, alpha 1							120.0	105.0	110.0					8																	139674273		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139674273G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3240+1C>A	8.37:g.139674273G>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.D360E	p.D1080E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		43	3687	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1080			Pro-rich.|Gly-rich.|Collagen-like 9.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3240C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.463	-0.888105	0.02511	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93076	-3.14;-3.16	4.35	-2.69	0.06022	.	0.132329	0.33364	U	0.004984	D	0.91734	0.7386	L	0.28649	0.875	0.30192	N	0.799393	D;D	0.69078	0.996;0.997	D;D	0.81914	0.992;0.995	D	0.87237	0.2264	9	.	.	.	.	9.0245	0.36220	0.5101:0.0:0.4899:0.0	.	1060;1080	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	1080;1060;773	ENSP00000303153:D1080E;ENSP00000387655:D1060E	.	D	-	3	2	COL22A1	139743455	0.959000	0.32827	0.985000	0.45067	0.069000	0.16628	-0.108000	0.10857	-0.549000	0.06191	-0.340000	0.08031	GAC		PASS	0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	21	56	21	56	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141675018	141675018	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:141675018C>T	ENST00000522684.1	-	31	3173	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	PTK2_ENST00000519465.1_Missense_Mutation_p.E610K|PTK2_ENST00000395218.2_Missense_Mutation_p.E995K|PTK2_ENST00000521059.1_Missense_Mutation_p.E982K|PTK2_ENST00000517887.1_Missense_Mutation_p.E1026K|PTK2_ENST00000340930.3_Missense_Mutation_p.E995K|PTK2_ENST00000517712.1_Missense_Mutation_p.E45K|PTK2_ENST00000535192.1_Missense_Mutation_p.E936K|PTK2_ENST00000538769.1_Missense_Mutation_p.E650K|PTK2_ENST00000522950.1_5'Flank|PTK2_ENST00000430260.2_Missense_Mutation_p.E292K|PTK2_ENST00000519419.1_Missense_Mutation_p.E1026K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	982	Interaction with ARHGEF28. {ECO:0000250}.|Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.E937K(1)|p.E1004K(1)|p.E995K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGCCCTACCTCTCGGTGGGTG	0.577																																						uc003yvu.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2944-2946)GAG>AAG		PTK2 protein tyrosine kinase 2 isoform a							132.0	86.0	101.0					8																	141675018		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141675018C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2944G>A	8.37:g.141675018C>T	ENSP00000429911:p.Glu982Lys					PTK2_uc011ljp.1_Missense_Mutation_p.E290K|PTK2_uc003yvo.2_Missense_Mutation_p.E610K|PTK2_uc011ljq.1_Missense_Mutation_p.E680K|PTK2_uc003yvp.2_Missense_Mutation_p.E650K|PTK2_uc003yvq.2_Missense_Mutation_p.E487K|PTK2_uc003yvr.2_Missense_Mutation_p.E925K|PTK2_uc003yvs.2_Missense_Mutation_p.E936K|PTK2_uc003yvt.2_Missense_Mutation_p.E1004K|PTK2_uc003yvv.2_Missense_Mutation_p.E885K|PTK2_uc011ljr.1_Missense_Mutation_p.E995K	p.E982K	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		31	3174	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	982			Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2944G>A	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.118503|6.118503	0.97300|0.97300	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000517712;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986|ENST00000519654	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.36520|0.28069	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25|1.63	5.77|5.77	5.77|5.77	0.91146|0.91146	Focal adhesion kinase, targeting (FAT) domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56232|0.56232	0.1971|0.1971	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.996;0.964;1.0;0.996;0.996;0.994;0.997;0.999;0.998;0.98|.	D;P;D;D;D;D;D;D;D;P|.	0.77557|.	0.964;0.887;0.99;0.946;0.974;0.926;0.98;0.976;0.957;0.893|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|6	0.87932|.	D|.	0|.	.|.	19.5879|19.5879	0.95497|0.95497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	995;680;905;982;1004;936;937;809;650;610|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	K|K	982;936;610;1026;982;937;995;906;680;45;654;995;650;1026;292;683|946	ENSP00000429911:E982K;ENSP00000438009:E936K;ENSP00000429170:E610K;ENSP00000429082:E1026K;ENSP00000429474:E982K;ENSP00000378644:E995K;ENSP00000430916:E45K;ENSP00000428492:E654K;ENSP00000341189:E995K;ENSP00000445742:E650K;ENSP00000429129:E1026K;ENSP00000403416:E292K;ENSP00000430603:E683K|ENSP00000429929:R946K	ENSP00000341189:E995K|.	E|R	-|-	1|2	0|0	PTK2|PTK2	141744200|141744200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.474000|7.474000	0.81024|0.81024	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.577	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		9	11	9	11	---	---	---	---
RECQL4	9401	broad.mit.edu	37	8	145739739	145739739	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:145739739G>A	ENST00000428558.2	-	11	1753	c.1712C>T	c.(1711-1713)gCa>gTa	p.A571V	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	571	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)	p.A571V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TACCTGGGCTGCCCGAATCTG	0.657			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													uc003zdj.2			yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	N|F|S	RecQ protein-like 4			M		osteosarcoma|skin basal and sqamous cell			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(1711-1713)GCA>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							30.0	35.0	33.0					8																	145739739		2093	4205	6298	SO:0001583	missense	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739739G>A	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1712C>T	8.37:g.145739739G>A	ENSP00000475456:p.Ala571Val						p.A571V	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	1744	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		571			Helicase ATP-binding.		Q3Y424|Q96DW2|Q96F55	Missense_Mutation	SNP	ENST00000428558.2	37	c.1712C>T																																																																																					PASS	0.657	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		4	12	4	12	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3263017	3263017	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:3263017G>T	ENST00000382004.3	-	14	1834	c.1523C>A	c.(1522-1524)gCa>gAa	p.A508E	RFX3_ENST00000302303.1_Missense_Mutation_p.A508E|RFX3_ENST00000358730.2_Missense_Mutation_p.A508E	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	508					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A508E(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGCACGAGCTGCCTGGGCCAG	0.493																																						uc003zhr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1522-1524)GCA>GAA		regulatory factor X3 isoform b							179.0	157.0	164.0					9																	3263017		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263017G>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1523C>A	9.37:g.3263017G>T	ENSP00000371434:p.Ala508Glu					RFX3_uc010mhd.2_Missense_Mutation_p.A508E|RFX3_uc003zhs.1_Missense_Mutation_p.A508E	p.A508E	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1835	-			508					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1523C>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654345	0.96724	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.87038	2.855	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.927	T	0.76822	-0.2817	10	0.66056	D	0.02	-15.2439	20.8598	0.99761	0.0:0.0:1.0:0.0	.	508;508	P48380-2;P48380	.;RFX3_HUMAN	E	508;508;508;81	ENSP00000371434:A508E;ENSP00000351574:A508E;ENSP00000303847:A508E;ENSP00000400026:A81E	ENSP00000303847:A508E	A	-	2	0	RFX3	3253017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCA		PASS	0.493	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		17	34	17	34	---	---	---	---
CDC37L1	55664	broad.mit.edu	37	9	4685026	4685026	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:4685026C>A	ENST00000381854.3	+	2	484	c.282C>A	c.(280-282)gcC>gcA	p.A94A	CDC37L1_ENST00000381858.1_Silent_p.A94A|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	94	Self-association.					cytoplasm (GO:0005737)		p.A94A(1)		breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGGAGCATGCCAAAGCACAAA	0.468																																						uc003zio.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)GCC>GCA		cell division cycle 37 homolog (S.							152.0	148.0	149.0					9																	4685026		2203	4300	6503	SO:0001819	synonymous_variant	55664					cytoplasm		g.chr9:4685026C>A	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.282C>A	9.37:g.4685026C>A							p.A94A	NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	2	492	+	all_hematologic(13;0.137)	Breast(48;0.238)	94			Potential.|Self-association.		B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	c.282C>A	CCDS6454.1																																																																																				PASS	0.468	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		25	31	25	31	---	---	---	---
ALDH1A1	216	broad.mit.edu	37	9	75526976	75526976	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:75526976G>T	ENST00000297785.3	-	10	1152	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	366					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.A366A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATTCCAGTTTGGCCCCTTCTT	0.413																																						uc004ajd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1096-1098)GCC>GCA		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						139.0	129.0	132.0					9																	75526976		2203	4300	6503	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526976G>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1098C>A	9.37:g.75526976G>T						ALDH1A1_uc011lsh.1_Silent_p.A287A|ALDH1A1_uc011lsg.1_Silent_p.A192A	p.A366A	NM_000689	NP_000680	P00352	AL1A1_HUMAN			10	1151	-			366					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.1098C>A	CCDS6644.1																																																																																				PASS	0.413	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			5	76	5	76	---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80049351	80049351	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:80049351G>T	ENST00000341700.6	-	3	910	c.397C>A	c.(397-399)Caa>Aaa	p.Q133K	GNA14_ENST00000464095.1_5'Flank	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	133					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q133K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CCTGGATCTTGCCAGAGCTGC	0.562											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aku.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(397-399)CAA>AAA		G alpha 14							125.0	97.0	107.0					9																	80049351		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80049351G>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.397C>A	9.37:g.80049351G>T	ENSP00000365807:p.Gln133Lys		OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1195		p.Q133K	NM_004297	NP_004288	O95837	GNA14_HUMAN			3	920	-			133					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.397C>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	G	6.205	0.405980	0.11754	.	.	ENSG00000156049	ENST00000341700	D	0.87571	-2.27	5.19	3.24	0.37175	G protein alpha subunit, helical insertion (2);	0.987754	0.08276	N	0.970589	T	0.61986	0.2391	N	0.00729	-1.24	0.29711	N	0.839428	B	0.02656	0.0	B	0.01281	0.0	T	0.56798	-0.7919	10	0.06625	T	0.88	.	8.4694	0.32975	0.0:0.3472:0.5243:0.1285	.	133	O95837	GNA14_HUMAN	K	133	ENSP00000365807:Q133K	ENSP00000365807:Q133K	Q	-	1	0	GNA14	79239171	0.063000	0.20901	0.983000	0.44433	0.962000	0.63368	0.182000	0.16900	1.392000	0.46585	0.655000	0.94253	CAA		PASS	0.562	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			8	24	8	24	---	---	---	---
PTPDC1	138639	broad.mit.edu	37	9	96859732	96859732	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:96859732C>A	ENST00000375360.3	+	7	1062	c.722C>A	c.(721-723)aCt>aAt	p.T241N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.T293N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	241					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T293N(1)|p.T241N(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGGGAATTTACTCAGTTTCTA	0.453																																						uc004auf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(721-723)ACT>AAT		protein tyrosine phosphatase domain containing 1							103.0	100.0	101.0					9																	96859732		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859732C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.722C>A	9.37:g.96859732C>A	ENSP00000364509:p.Thr241Asn					PTPDC1_uc004aug.1_Missense_Mutation_p.T241N|PTPDC1_uc004auh.1_Missense_Mutation_p.T293N|PTPDC1_uc010mrj.1_Missense_Mutation_p.T295N|PTPDC1_uc010mri.1_Missense_Mutation_p.T293N	p.T241N	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			7	1062	+			241					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.722C>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	16.71	3.199624	0.58126	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.21734	1.99;1.99	5.55	5.55	0.83447	.	0.201854	0.52532	D	0.000067	T	0.22399	0.0540	N	0.08118	0	0.41149	D	0.986017	P;P;P;P	0.47034	0.889;0.778;0.814;0.889	P;P;P;P	0.53593	0.73;0.61;0.511;0.73	T	0.12400	-1.0549	10	0.39692	T	0.17	-12.6621	18.4793	0.90806	0.0:1.0:0.0:0.0	.	295;293;295;241	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	N	241;293	ENSP00000364509:T241N;ENSP00000288976:T293N	ENSP00000288976:T293N	T	+	2	0	PTPDC1	95899553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.508000	0.60441	2.610000	0.88304	0.591000	0.81541	ACT		PASS	0.453	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		9	86	9	86	---	---	---	---
RAB14	51552	broad.mit.edu	37	9	123945598	123945598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:123945598C>A	ENST00000373840.4	-	6	667	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	144					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E144*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCATTTTCTTCAGCAAACTGT	0.333																																						uc004blc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(430-432)GAA>TAA		GTPase Rab14							165.0	170.0	168.0					9																	123945598		2203	4299	6502	SO:0001587	stop_gained	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123945598C>A	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.430G>T	9.37:g.123945598C>A	ENSP00000362946:p.Glu144*						p.E144*	NM_016322	NP_057406	P61106	RAB14_HUMAN			6	886	-			144					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Nonsense_Mutation	SNP	ENST00000373840.4	37	c.430G>T	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	C	37	6.519543	0.97633	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.9739	0.92728	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000362946:E144X	E	-	1	0	RAB14	122985419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.666000	0.83877	2.706000	0.92434	0.655000	0.94253	GAA		PASS	0.333	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		27	61	27	61	---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125281491	125281491	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:125281491G>T	ENST00000340750.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q24H(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAGAGCAGCAGGCTGTGTTCT	0.557																																						uc011lyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CAG>CAT		olfactory receptor, family 1, subfamily J,							198.0	165.0	176.0					9																	125281491		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281491G>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.72G>T	9.37:g.125281491G>T	ENSP00000343521:p.Gln24His						p.Q24H	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	72	+			24			Extracellular (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.72G>T	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	5.637	0.302286	0.10678	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.00601	6.29	5.2	1.19	0.21007	.	0.000000	0.32287	U	0.006313	T	0.00845	0.0028	M	0.78049	2.395	0.09310	N	1	B	0.18310	0.027	B	0.23018	0.043	T	0.44298	-0.9337	10	0.72032	D	0.01	.	4.8976	0.13759	0.3079:0.0:0.5498:0.1424	.	24	Q8NGS1	OR1J4_HUMAN	H	190;24	ENSP00000343521:Q24H	ENSP00000407987:Q190H	Q	+	3	2	OR1J2;OR1J4	124321312	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.150000	0.10189	0.129000	0.18514	0.638000	0.83543	CAG		PASS	0.557	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			28	66	28	66	---	---	---	---
PTGES2	80142	broad.mit.edu	37	9	130885221	130885221	+	Silent	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:130885221G>C	ENST00000338961.6	-	5	1623	c.879C>G	c.(877-879)ctC>ctG	p.L293L	PTGES2_ENST00000277462.5_Silent_p.L102L|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	293	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)	p.L293L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GCCTGCTCTTGAGTCGCTTGC	0.627																																						uc004bti.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)CTC>CTG		prostaglandin E synthase 2							114.0	90.0	98.0					9																	130885221		2203	4300	6503	SO:0001819	synonymous_variant	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885221G>C	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.879C>G	9.37:g.130885221G>C						PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Silent_p.L102L|PTGES2_uc004btl.2_Silent_p.L102L|PTGES2_uc004btm.2_RNA	p.L293L	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			5	1357	-			293			GST C-terminal.|Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	ENST00000338961.6	37	c.879C>G	CCDS6891.1																																																																																				PASS	0.627	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			5	28	5	28	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073791	135073791	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:135073791C>A	ENST00000393229.3	+	3	1428	c.652C>A	c.(652-654)Cgc>Agc	p.R218S	NTNG2_ENST00000360670.3_Missense_Mutation_p.R218S|NTNG2_ENST00000393228.4_Missense_Mutation_p.R218S|NTNG2_ENST00000372179.3_Missense_Mutation_p.R218S	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	218	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.R218S(1)|p.R218C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTGCGGGACCGCTTCGCCAT	0.647																																						uc004cbh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(652-654)CGC>AGC		netrin G2 precursor							49.0	43.0	45.0					9																	135073791		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073791C>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.652C>A	9.37:g.135073791C>A	ENSP00000376921:p.Arg218Ser						p.R218S	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1428	+			218			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.652C>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131111	0.94473	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.70399	0.79;1.02;0.96;-0.48	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88928	0.3371	10	0.87932	D	0	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	218	Q96CW9	NTNG2_HUMAN	S	218	ENSP00000376921:R218S;ENSP00000376920:R218S;ENSP00000353888:R218S;ENSP00000361252:R218S	ENSP00000353888:R218S	R	+	1	0	NTNG2	134063612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.417000	0.82017	0.561000	0.74099	CGC		PASS	0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		22	32	22	32	---	---	---	---
FCN2	2220	broad.mit.edu	37	9	137772699	137772699	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:137772699G>T	ENST00000291744.6	+	1	42	c.32G>T	c.(31-33)gGc>gTc	p.G11V	FCN2_ENST00000350339.2_Missense_Mutation_p.G11V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	11					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.G11V(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGTCCTGGGCGCTGCCACC	0.617																																						uc004cfg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(31-33)GGC>GTC		ficolin 2 isoform a precursor							43.0	49.0	47.0					9																	137772699		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772699G>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.32G>T	9.37:g.137772699G>T	ENSP00000291744:p.Gly11Val					FCN2_uc004cfh.1_Missense_Mutation_p.G11V	p.G11V	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	42	+		Myeloproliferative disorder(178;0.0333)	11					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.32G>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210497	0.22289	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.60672	0.17;0.71	0.986	0.986	0.19784	.	.	.	.	.	T	0.45175	0.1329	N	0.08118	0	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.58520	0.84;0.697	T	0.29181	-1.0020	9	0.28530	T	0.3	.	5.3088	0.15819	0.0:0.0:1.0:0.0	.	11;11	Q15485-2;Q15485	.;FCN2_HUMAN	V	11	ENSP00000291741:G11V;ENSP00000291744:G11V	ENSP00000291744:G11V	G	+	2	0	FCN2	136912520	0.007000	0.16637	0.002000	0.10522	0.006000	0.05464	1.150000	0.31639	0.818000	0.34468	0.591000	0.81541	GGC		PASS	0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		4	15	4	15	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12070784	12070784	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:12070784T>C	ENST00000356352.2	-	2	1578	c.1105A>G	c.(1105-1107)Agg>Ggg	p.R369G	UPF2_ENST00000397053.2_Missense_Mutation_p.R369G|UPF2_ENST00000357604.5_Missense_Mutation_p.R369G			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	369	MIF4G 1.				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.R369G(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)				CTGTGGTCCCTTTTCAGGTGT	0.373																																						uc001ila.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1105-1107)AGG>GGG		UPF2 regulator of nonsense transcripts homolog							71.0	75.0	74.0					10																	12070784		2201	4298	6499	SO:0001583	missense	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.chr10:12070784T>C	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.1105A>G	10.37:g.12070784T>C	ENSP00000348708:p.Arg369Gly					UPF2_uc001ilb.2_Missense_Mutation_p.R369G|UPF2_uc001ilc.2_Missense_Mutation_p.R369G|UPF2_uc009xiz.1_Missense_Mutation_p.R369G	p.R369G	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			2	1579	-		Renal(717;0.228)	369			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1105A>G	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515154	0.44763	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.43294	0.95;0.95;0.95	5.51	5.51	0.81932	MIF4G-like, type 3 (1);Armadillo-type fold (1);	0.048963	0.85682	D	0.000000	T	0.39545	0.1082	L	0.43152	1.355	0.58432	D	0.999997	B;B	0.26775	0.056;0.159	B;B	0.27262	0.032;0.078	T	0.27536	-1.0071	10	0.59425	D	0.04	.	15.9255	0.79611	0.0:0.0:0.0:1.0	.	339;369	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	G	369;369;339;369;339	ENSP00000348708:R369G;ENSP00000350221:R369G;ENSP00000380244:R369G	ENSP00000313617:R339G	R	-	1	2	UPF2	12110790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	2.221000	0.72209	0.528000	0.53228	AGG		PASS	0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			3	77	3	77	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15647751	15647751	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:15647751C>A	ENST00000378076.3	-	19	2295	c.1942G>T	c.(1942-1944)Gtt>Ttt	p.V648F	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	648					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.V648F(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						AAGTCAGGAACACACAGATTG	0.388																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1942-1944)GTT>TTT		integrin, alpha 8 precursor							104.0	90.0	95.0					10																	15647751		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.chr10:15647751C>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.1942G>T	10.37:g.15647751C>A	ENSP00000367316:p.Val648Phe					ITGA8_uc010qcb.1_Missense_Mutation_p.V633F	p.V648F	NM_003638	NP_003629	P53708	ITA8_HUMAN			19	1942	-			648			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1942G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623492	0.66901	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50001	0.76	5.51	2.21	0.28008	Integrin alpha-2 (1);	0.142199	0.64402	D	0.000007	T	0.46054	0.1373	M	0.65677	2.01	0.42926	D	0.994303	P;P	0.44006	0.789;0.824	B;P	0.45449	0.35;0.481	T	0.36407	-0.9749	10	0.56958	D	0.05	.	5.1275	0.14892	0.0:0.126:0.187:0.687	.	633;648	F5H818;P53708	.;ITA8_HUMAN	F	648;633	ENSP00000367316:V648F	ENSP00000367316:V648F	V	-	1	0	ITGA8	15687757	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.115000	0.31209	0.178000	0.19917	0.655000	0.94253	GTT		PASS	0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		12	39	12	39	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24790396	24790396	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:24790396C>A	ENST00000376454.3	+	9	1953	c.1923C>A	c.(1921-1923)gcC>gcA	p.A641A	KIAA1217_ENST00000376452.3_Silent_p.A606A|KIAA1217_ENST00000396445.1_Silent_p.A324A|KIAA1217_ENST00000307544.6_Silent_p.A324A|KIAA1217_ENST00000376451.2_Silent_p.A324A|KIAA1217_ENST00000458595.1_Silent_p.A606A|KIAA1217_ENST00000430453.2_Silent_p.A527A|KIAA1217_ENST00000396446.1_Silent_p.A324A|KIAA1217_ENST00000376462.1_Silent_p.A561A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	641					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.A641A(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCACCTCAGCCATCCACATGA	0.622																																						uc001iru.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(1921-1923)GCC>GCA		sickle tail isoform 1							75.0	66.0	69.0					10																	24790396		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24790396C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1923C>A	10.37:g.24790396C>A						KIAA1217_uc001irs.2_Silent_p.A561A|KIAA1217_uc001irt.3_Silent_p.A606A|KIAA1217_uc010qcy.1_Silent_p.A606A|KIAA1217_uc010qcz.1_Silent_p.A606A|KIAA1217_uc001irv.1_Silent_p.A456A|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.A324A|KIAA1217_uc001irz.2_Silent_p.A324A|KIAA1217_uc001irx.2_Silent_p.A324A|KIAA1217_uc001iry.2_Silent_p.A324A	p.A641A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			9	2326	+			641					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1923C>A	CCDS31165.1																																																																																				PASS	0.622	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	34	8	34	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26558081	26558081	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:26558081G>T	ENST00000376261.3	+	9	1457	c.954G>T	c.(952-954)agG>agT	p.R318S	GAD2_ENST00000259271.3_Missense_Mutation_p.R318S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	318					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.R318S(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						TTGAAAGAAGGATTCTTGAAG	0.368																																						uc001isp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(952-954)AGG>AGT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						75.0	78.0	77.0					10																	26558081		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.chr10:26558081G>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.954G>T	10.37:g.26558081G>T	ENSP00000365437:p.Arg318Ser					GAD2_uc001isq.2_Missense_Mutation_p.R318S	p.R318S	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			9	1457	+			318					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.954G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512290	0.44660	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.37584	1.19;1.19	5.93	-3.08	0.05347	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	N	0.12471	0.22	0.80722	D	1	B	0.27932	0.194	B	0.30855	0.121	T	0.02852	-1.1102	10	0.33940	T	0.23	-24.2155	14.6081	0.68495	0.7891:0.0:0.2109:0.0	.	318	Q05329	DCE2_HUMAN	S	318	ENSP00000365437:R318S;ENSP00000259271:R318S	ENSP00000259271:R318S	R	+	3	2	GAD2	26598087	1.000000	0.71417	0.983000	0.44433	0.224000	0.24922	1.960000	0.40422	-0.431000	0.07307	-0.140000	0.14226	AGG		PASS	0.368	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		19	36	19	36	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121037	38121037	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:38121037C>A	ENST00000395867.3	-	6	1796	c.1246G>T	c.(1246-1248)Gcc>Tcc	p.A416S	ZNF248_ENST00000357328.4_Missense_Mutation_p.A416S|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	416					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.A416S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGGCAAAAGGCTTTCCCACAT	0.443																																						uc001izd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1246-1248)GCC>TCC		zinc finger protein 248							127.0	128.0	127.0					10																	38121037		2203	4299	6502	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121037C>A	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1246G>T	10.37:g.38121037C>A	ENSP00000379208:p.Ala416Ser					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.A416S	p.A416S	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	1745	-			416			C2H2-type 3.		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1246G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.185402	0.01620	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.00856	5.61;5.61	4.73	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.437556	0.19686	N	0.108394	T	0.00695	0.0023	N	0.04508	-0.205	0.09310	N	1	B	0.18013	0.025	B	0.19666	0.026	T	0.46803	-0.9165	10	0.33940	T	0.23	.	17.2954	0.87169	0.2225:0.7775:0.0:0.0	.	416	Q8NDW4	ZN248_HUMAN	S	416	ENSP00000379208:A416S;ENSP00000349882:A416S	ENSP00000349882:A416S	A	-	1	0	ZNF248	38161043	0.000000	0.05858	0.955000	0.39395	0.995000	0.86356	-0.839000	0.04368	-0.383000	0.07858	0.650000	0.86243	GCC		PASS	0.443	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		38	87	38	87	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49395304	49395304	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:49395304C>A	ENST00000374201.3	-	17	2499	c.2197G>T	c.(2197-2199)Gcc>Tcc	p.A733S	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A701S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A708S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	733					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.A733S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATCACACAGGCACTCTTCAGC	0.572																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2197-2199)GCC>TCC		FERM and PDZ domain containing 2 isoform 3							76.0	67.0	70.0					10																	49395304		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49395304C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2197G>T	10.37:g.49395304C>A	ENSP00000363317:p.Ala733Ser					FRMPD2_uc001jgh.2_Missense_Mutation_p.A701S|FRMPD2_uc001jgj.2_Missense_Mutation_p.A711S	p.A733S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	17	2304	-			733					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2197G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	5.825	0.336524	0.11013	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.64085	-0.04;-0.08;-0.07	4.06	-8.12	0.01078	.	.	.	.	.	T	0.33876	0.0878	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24426	0.103;0.04;0.103	B;B;B	0.25140	0.058;0.013;0.058	T	0.36696	-0.9737	9	0.06757	T	0.87	.	9.5509	0.39310	0.0:0.5688:0.2526:0.1786	.	708;733;701	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	733;708;701	ENSP00000363317:A733S;ENSP00000307079:A708S;ENSP00000384339:A701S	ENSP00000307079:A708S	A	-	1	0	FRMPD2	49065310	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.376000	0.02561	-1.987000	0.00982	-0.768000	0.03414	GCC		PASS	0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		5	9	5	9	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531636	50531636	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:50531636G>T	ENST00000374144.3	+	3	1334	c.1046G>T	c.(1045-1047)tGg>tTg	p.W349L	C10orf71_ENST00000323868.4_Missense_Mutation_p.W349L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	349								p.W349L(2)		endometrium(1)	1						TCTATACCCTGGGGGTGCAGG	0.592																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)TGG>TTG		hypothetical protein LOC118461 isoform 2							42.0	45.0	44.0					10																	50531636		1894	4106	6000	SO:0001583	missense	118461							g.chr10:50531636G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1046G>T	10.37:g.50531636G>T	ENSP00000363259:p.Trp349Leu						p.W349L	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1385	+			349					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1046G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189162	0.38707	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13657	2.57;3.7	5.64	4.63	0.57726	.	0.644399	0.13591	N	0.376574	T	0.23965	0.0580	L	0.60455	1.87	0.32517	N	0.536809	D	0.60575	0.988	P	0.56343	0.796	T	0.17048	-1.0382	10	0.51188	T	0.08	.	6.4608	0.21956	0.1499:0.0:0.8501:0.0	.	349	Q711Q0-3	.	L	349	ENSP00000318713:W349L;ENSP00000363259:W349L	ENSP00000318713:W349L	W	+	2	0	C10orf71	50201642	0.993000	0.37304	0.981000	0.43875	0.098000	0.18820	1.781000	0.38644	2.657000	0.90304	0.655000	0.94253	TGG		PASS	0.592	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		9	15	9	15	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71697401	71697401	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:71697401G>T	ENST00000398978.3	+	33	2267	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V	COL13A1_ENST00000398964.3_Missense_Mutation_p.G563V|COL13A1_ENST00000520267.1_Missense_Mutation_p.G520V|COL13A1_ENST00000398972.3_Missense_Mutation_p.G578V|COL13A1_ENST00000522165.1_Missense_Mutation_p.G573V|COL13A1_ENST00000356340.3_Missense_Mutation_p.G592V|COL13A1_ENST00000398971.3_Missense_Mutation_p.G577V|COL13A1_ENST00000398973.3_Missense_Mutation_p.G578V|COL13A1_ENST00000398966.3_Missense_Mutation_p.G570V|COL13A1_ENST00000357811.3_Missense_Mutation_p.G570V|COL13A1_ENST00000517713.1_Missense_Mutation_p.G555V|COL13A1_ENST00000354547.3_Missense_Mutation_p.G570V|COL13A1_ENST00000398974.3_Missense_Mutation_p.G580V|COL13A1_ENST00000520133.1_Missense_Mutation_p.G526V|COL13A1_ENST00000398968.3_Missense_Mutation_p.G573V|COL13A1_ENST00000398969.3_Missense_Mutation_p.G520V	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.G575V(1)|p.G592V(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGGGAAGCAGGACTAGATGGA	0.562																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1774-1776)GGA>GTA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						45.0	47.0	46.0					10																	71697401		1890	4130	6020	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71697401G>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1775G>T	10.37:g.71697401G>T	ENSP00000381949:p.Gly592Val					COL13A1_uc001jqj.1_Missense_Mutation_p.G577V|COL13A1_uc001jps.1_Missense_Mutation_p.G563V|COL13A1_uc001jpt.1_Missense_Mutation_p.G551V|COL13A1_uc001jpu.1_Missense_Mutation_p.G573V|COL13A1_uc001jpv.1_Missense_Mutation_p.G578V|COL13A1_uc001jpx.1_Missense_Mutation_p.G555V|COL13A1_uc001jpw.1_Missense_Mutation_p.G539V|COL13A1_uc001jpy.1_Missense_Mutation_p.G530V|COL13A1_uc001jpz.1_Missense_Mutation_p.G535V|COL13A1_uc001jqa.1_Missense_Mutation_p.G532V|COL13A1_uc001jqc.1_Missense_Mutation_p.G577V|COL13A1_uc001jqb.1_Missense_Mutation_p.G526V|COL13A1_uc001jql.2_Missense_Mutation_p.G592V|COL13A1_uc001jqd.1_Missense_Mutation_p.G580V|COL13A1_uc001jqe.1_Missense_Mutation_p.G575V|COL13A1_uc001jqf.1_Missense_Mutation_p.G573V|COL13A1_uc001jqg.1_Missense_Mutation_p.G570V|COL13A1_uc001jqh.1_Missense_Mutation_p.G592V|COL13A1_uc001jqi.1_Missense_Mutation_p.G578V|COL13A1_uc010qjf.1_Missense_Mutation_p.G367V	p.G592V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			32	2311	+			592			Extracellular (Potential).|Triple-helical region 3 (COL3).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1775G>T	CCDS44419.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.68|13.68|13.68	2.308233|2.308233|2.308233	0.40895|0.40895|0.40895	.|.|.	.|.|.	ENSG00000197467|ENSG00000197467|ENSG00000197467	ENST00000398975|ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.99353|.	.|-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.77;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000002|.	D|D|D	0.90971|0.90971|0.90971	0.7161|0.7161|0.7161	H|H|H	0.98980|0.98980|0.98980	4.39|4.39|4.39	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D;D;D;D;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;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;D;D;D;D;D;D;D;D;D|.	.|0.97110|.	.|0.998;0.999;1.0;1.0;1.0;1.0;0.999;1.0;0.999;0.999;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999|.	D|D|D	0.94377|0.94377|0.94377	0.7601|0.7601|0.7601	5|10|5	.|0.87932|.	.|D|.	.|0|.	-4.5167|-4.5167|-4.5167	17.5865|17.5865|17.5865	0.87983|0.87983|0.87983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|520;592;577;578;578;570;573;578;580;577;526;570;555;578;573;570;563;592|.	.|B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.|.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	Y|V|S	122|580;577;573;570;563;520;592;578;578;592;570;570;520;555;573;526|60	.|ENSP00000381946:G580V;ENSP00000381943:G577V;ENSP00000381940:G573V;ENSP00000381938:G570V;ENSP00000381936:G563V;ENSP00000381941:G520V;ENSP00000348695:G592V;ENSP00000381944:G578V;ENSP00000381945:G578V;ENSP00000381949:G592V;ENSP00000346553:G570V;ENSP00000350463:G570V;ENSP00000428057:G520V;ENSP00000430061:G555V;ENSP00000428342:G573V;ENSP00000430173:G526V|.	.|ENSP00000346553:G570V|.	D|G|R	+|+|+	1|2|3	0|0|2	COL13A1|COL13A1|COL13A1	71367407|71367407|71367407	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	7.105000|7.105000|7.105000	0.77031|0.77031|0.77031	2.660000|2.660000|2.660000	0.90430|0.90430|0.90430	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|GGA|AGG		PASS	0.562	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		6	16	6	16	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72434586	72434586	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:72434586G>T	ENST00000373207.1	+	2	357	c.357G>T	c.(355-357)ttG>ttT	p.L119F	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.L119F	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	119					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L119F(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AACTGCACTTGCGCCTGCGGC	0.627																																						uc001jrh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(355-357)TTG>TTT		ADAM metallopeptidase with thrombospondin type 1							49.0	43.0	45.0					10																	72434586		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72434586G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.357G>T	10.37:g.72434586G>T	ENSP00000362303:p.Leu119Phe					ADAMTS14_uc001jrg.2_Missense_Mutation_p.L119F	p.L119F	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			2	357	+			119					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.357G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681689	0.29872	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.20738	2.05;2.05	4.99	2.0	0.26442	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000006	T	0.36220	0.0959	M	0.79011	2.435	0.38365	D	0.944712	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35251	-0.9796	10	0.33141	T	0.24	.	1.0029	0.01481	0.2503:0.1209:0.3991:0.2297	.	119;119	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	F	119	ENSP00000362304:L119F;ENSP00000362303:L119F	ENSP00000362303:L119F	L	+	3	2	ADAMTS14	72104592	1.000000	0.71417	0.488000	0.27440	0.146000	0.21551	0.514000	0.22786	0.484000	0.27630	0.491000	0.48974	TTG		PASS	0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	22	10	22	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73560461	73560461	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:73560461C>A	ENST00000224721.6	+	52	7451	c.7446C>A	c.(7444-7446)gcC>gcA	p.A2482A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.A237A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2477	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.A2482A(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCCTTGGCCAAAGACAACC	0.567																																						uc001jrx.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(7429-7431)GCC>GCA		cadherin-like 23 isoform 1 precursor							69.0	72.0	71.0					10																	73560461		1956	4143	6099	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73560461C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7446C>A	10.37:g.73560461C>A						CDH23_uc001jsg.3_Silent_p.A237A|CDH23_uc001jsh.3_Silent_p.A237A|CDH23_uc001jsi.3_Silent_p.A237A	p.A2477A	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			51	7808	+			2477			Cadherin 23.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.7431C>A																																																																																					PASS	0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	10	3	10	---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73970533	73970533	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:73970533G>T	ENST00000342444.4	-	3	270	c.169C>A	c.(169-171)Caa>Aaa	p.Q57K	ASCC1_ENST00000394919.1_Missense_Mutation_p.Q57K|ASCC1_ENST00000394915.3_Missense_Mutation_p.Q57K|ASCC1_ENST00000317168.6_Missense_Mutation_p.Q57K|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000317126.4_Missense_Mutation_p.Q57K|ASCC1_ENST00000545550.1_Missense_Mutation_p.Q79K	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)	p.Q57K(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CGGAATCCTTGTGGGGTCTGC	0.522																																						uc001jst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)CAA>AAA		RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;							93.0	81.0	85.0					10																	73970533		2203	4300	6503	SO:0001583	missense	51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73970533G>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.169C>A	10.37:g.73970533G>T	ENSP00000339404:p.Gln57Lys					ASCC1_uc001jss.1_Missense_Mutation_p.Q57K|ASCC1_uc001jsu.1_Missense_Mutation_p.Q57K|ASCC1_uc010qju.1_Missense_Mutation_p.Q78K	p.Q57K			Q8N9N2	ASCC1_HUMAN			3	277	-			57					Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	ENST00000342444.4	37	c.169C>A	CCDS55713.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084044	0.08583	.	.	ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530461;ENST00000527593;ENST00000524829;ENST00000526751	T;T;T;T;T;T;T;T;T	0.40225	1.66;2.9;1.66;1.66;1.66;2.9;1.08;1.08;1.04	5.23	4.28	0.50868	.	0.215449	0.47093	D	0.000253	T	0.17577	0.0422	N	0.04508	-0.205	0.21064	N	0.999799	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.13548	-1.0505	10	0.02654	T	1	.	11.9554	0.52978	0.0:0.0:0.7702:0.2298	.	79;57	F5H874;Q8N9N2	.;ASCC1_HUMAN	K	57;57;57;57;57;79;57;18;57;57;57	ENSP00000378377:Q57K;ENSP00000339404:Q57K;ENSP00000320810:Q57K;ENSP00000320461:Q57K;ENSP00000442121:Q79K;ENSP00000378373:Q57K;ENSP00000432418:Q57K;ENSP00000431573:Q57K;ENSP00000431419:Q57K	ENSP00000320461:Q57K	Q	-	1	0	ASCC1	73640539	0.998000	0.40836	0.991000	0.47740	0.922000	0.55478	1.668000	0.37481	2.602000	0.87976	0.650000	0.86243	CAA		PASS	0.522	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		12	21	12	21	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75855548	75855548	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:75855548G>T	ENST00000211998.4	+	12	1772	c.1678G>T	c.(1678-1680)Gcc>Tcc	p.A560S	VCL_ENST00000372755.3_Missense_Mutation_p.A560S|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	560	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.A560S(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGACCTGGCTGCCAGAGGGGA	0.527																																						uc001jwd.2																		VCL/ALK(4)	1	Substitution - Missense(1)		lung(1)	kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1678-1680)GCC>TCC		vinculin isoform meta-VCL							97.0	93.0	94.0					10																	75855548		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75855548G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1678G>T	10.37:g.75855548G>T	ENSP00000211998:p.Ala560Ser					VCL_uc009xrr.2_Missense_Mutation_p.A309S|VCL_uc010qky.1_Missense_Mutation_p.A467S|VCL_uc001jwe.2_Missense_Mutation_p.A560S|VCL_uc010qkz.1_Intron	p.A560S	NM_014000	NP_054706	P18206	VINC_HUMAN			12	1772	+	Prostate(51;0.0112)		560			N-terminal globular head.|3.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1678G>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427638	0.43122	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.77877	-1.13;-1.13;-1.13	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000114	T	0.70263	0.3204	L	0.40543	1.245	0.80722	D	1	B;B;P	0.39404	0.018;0.003;0.672	B;B;B	0.40101	0.069;0.02;0.319	T	0.66520	-0.5903	10	0.17369	T	0.5	.	14.3193	0.66473	0.0:0.0:0.8517:0.1483	.	487;560;560	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	S	560;560;467;487;232	ENSP00000361841:A560S;ENSP00000211998:A560S;ENSP00000415489:A232S	ENSP00000211998:A560S	A	+	1	0	VCL	75525554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.460000	0.80816	2.598000	0.87819	0.644000	0.83932	GCC		PASS	0.527	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		24	56	24	56	---	---	---	---
SH2D4B	387694	broad.mit.edu	37	10	82363454	82363454	+	Missense_Mutation	SNP	A	A	T	rs370698042		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:82363454A>T	ENST00000470604.2	+	5	760	c.760A>T	c.(760-762)Atg>Ttg	p.M254L	SH2D4B_ENST00000313455.4_Missense_Mutation_p.M206L|SH2D4B_ENST00000339284.2_Missense_Mutation_p.M255L			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	254								p.M255L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CCTCAGCTCCATGTTCCGGGA	0.682																																						uc001kck.1																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)ATG>TTG		SH2 domain containing 4B isoform 1							27.0	28.0	28.0					10																	82363454		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82363454A>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.760A>T	10.37:g.82363454A>T	ENSP00000417953:p.Met254Leu					SH2D4B_uc001kcl.1_Missense_Mutation_p.M206L|SH2D4B_uc001kcm.1_Missense_Mutation_p.M1L	p.M255L	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		5	1193	+			254					Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.763A>T		.	.	.	.	.	.	.	.	.	.	A	9.007	0.981567	0.18812	.	.	ENSG00000178217	ENST00000339284;ENST00000470604;ENST00000313455	T;T;T	0.10763	2.84;2.84;2.84	6.02	4.87	0.63330	.	0.319882	0.36066	N	0.002808	T	0.06188	0.0160	N	0.17474	0.49	0.27242	N	0.959113	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.38001	-0.9681	10	0.08599	T	0.76	-15.2348	10.5365	0.45007	0.6877:0.3122:0.0:0.0	.	254;206;255	Q5SQS7;Q5SQS7-3;Q5SQS7-2	SH24B_HUMAN;.;.	L	255;254;206	ENSP00000345295:M255L;ENSP00000417953:M254L;ENSP00000314242:M206L	ENSP00000314242:M206L	M	+	1	0	SH2D4B	82353434	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.170000	0.42443	1.074000	0.40909	0.533000	0.62120	ATG		PASS	0.682	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		3	4	3	4	---	---	---	---
FAS	355	broad.mit.edu	37	10	90770326	90770326	+	Silent	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:90770326A>T	ENST00000355279.2	+	5	474	c.474A>T	c.(472-474)acA>acT	p.T158T	FAS_ENST00000357339.2_Silent_p.T158T|FAS_ENST00000355740.2_Silent_p.T158T|FAS_ENST00000352159.4_Silent_p.T158T|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T158T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AGGAATGCACACTCACCAGCA	0.363																																						uc001kfr.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(472-474)ACA>ACT		tumor necrosis factor receptor superfamily,							132.0	133.0	133.0					10																	90770326		2203	4300	6503	SO:0001819	synonymous_variant	355	Autoimmune_Lymphoproliferative_syndrome_type_I			activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90770326A>T	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.474A>T	10.37:g.90770326A>T						FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Silent_p.T158T|FAS_uc001kft.2_Silent_p.T158T|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Missense_Mutation_p.H122L|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	p.T158T	NM_000043	NP_000034	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	5	820	+		Colorectal(252;0.0161)	158			TNFR-Cys 3.|Extracellular (Potential).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000355279.2	37	c.474A>T	CCDS7395.1																																																																																				PASS	0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			19	30	19	30	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104170857	104170857	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:104170857C>A	ENST00000020673.5	-	9	2485	c.1959G>T	c.(1957-1959)ctG>ctT	p.L653L	PSD_ENST00000406432.1_Silent_p.L653L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	653	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.L438L(1)|p.L653L(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCGCACAGGTCAGCGTGTGGG	0.632																																						uc001kvg.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(1957-1959)CTG>CTT		pleckstrin and Sec7 domain containing							82.0	81.0	81.0					10																	104170857		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104170857C>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1959G>T	10.37:g.104170857C>A						PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Silent_p.L274L|PSD_uc009xxd.1_Silent_p.L653L	p.L653L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	9	2486	-			653			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.1959G>T	CCDS31272.1																																																																																				PASS	0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			8	30	8	30	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106927081	106927081	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:106927081C>A	ENST00000369701.3	+	13	2102	c.1875C>A	c.(1873-1875)caC>caA	p.H625Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	625					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.H625Q(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)		CCATGAAACACACACCTCTGC	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1873-1875)CAC>CAA		VPS10 domain receptor protein SORCS 3 precursor							147.0	126.0	133.0					10																	106927081		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106927081C>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.1875C>A	10.37:g.106927081C>A	ENSP00000358715:p.His625Gln						p.H625Q	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)	13	2102	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	625			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1875C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558524	0.13436	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.40476	1.03;1.03	5.76	3.91	0.45181	VPS10 (1);	0.049447	0.85682	D	0.000000	T	0.23649	0.0572	N	0.17312	0.475	0.40577	D	0.981358	B	0.28998	0.23	B	0.27796	0.083	T	0.07829	-1.0752	9	.	.	.	.	8.8749	0.35339	0.0:0.7787:0.0:0.2213	.	625	Q9UPU3	SORC3_HUMAN	Q	625;70	ENSP00000358715:H625Q;ENSP00000376876:H70Q	.	H	+	3	2	SORCS3	106917071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.093000	0.30939	1.438000	0.47492	0.655000	0.94253	CAC		PASS	0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	23	8	23	---	---	---	---
BAG3	9531	broad.mit.edu	37	10	121436371	121436371	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:121436371G>T	ENST00000369085.3	+	4	1611	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	435	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.L435L(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TACAGGGGCTGGAGCAGGCTG	0.517																																						uc001lem.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1303-1305)CTG>CTT		BCL2-associated athanogene 3							47.0	50.0	49.0					10																	121436371		2203	4300	6503	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436371G>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1305G>T	10.37:g.121436371G>T						BAG3_uc001lel.2_Silent_p.L434L	p.L435L	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1611	+		Lung NSC(174;0.109)|all_lung(145;0.142)	435			BAG.		A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.1305G>T	CCDS7615.1																																																																																				PASS	0.517	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		4	24	4	24	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358338	124358338	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:124358338G>T	ENST00000338354.3	+	26	3111	c.3005G>T	c.(3004-3006)tGt>tTt	p.C1002F	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.C992F|DMBT1_ENST00000368956.2_Missense_Mutation_p.C503F|DMBT1_ENST00000330163.4_Missense_Mutation_p.C503F|DMBT1_ENST00000368909.3_Missense_Mutation_p.C1002F|DMBT1_ENST00000368955.3_Missense_Mutation_p.C992F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1002	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.C1002F(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGACAGGTGTCAGGGCCGA	0.557																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(3004-3006)TGT>TTT		deleted in malignant brain tumors 1 isoform b							322.0	313.0	316.0					10																	124358338		1974	4176	6150	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358338G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3005G>T	10.37:g.124358338G>T	ENSP00000342210:p.Cys1002Phe					DMBT1_uc001lgl.1_Missense_Mutation_p.C992F|DMBT1_uc001lgm.1_Missense_Mutation_p.C503F|DMBT1_uc009xzz.1_Missense_Mutation_p.C1002F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	p.C1002F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3111	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1002			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3005G>T		.	.	.	.	.	.	.	.	.	.	G	15.50	2.850944	0.51270	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	3.63	3.63	0.41609	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.320353	0.22507	U	0.059158	T	0.62183	0.2407	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.91635	0.86;0.998;0.999;0.999	T	0.70156	-0.4949	10	0.72032	D	0.01	.	15.7365	0.77849	0.0:0.0:1.0:0.0	.	1002;503;992;1002	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	F	1002;1002;1002;1002;1002;1002;503;992;503;503;1002;992;503	ENSP00000342210:C1002F;ENSP00000343175:C992F;ENSP00000327747:C503F;ENSP00000357905:C1002F;ENSP00000357951:C992F;ENSP00000357952:C503F	ENSP00000331522:C503F	C	+	2	0	DMBT1	124348328	1.000000	0.71417	0.801000	0.32222	0.221000	0.24807	6.004000	0.70709	1.743000	0.51761	0.558000	0.71614	TGT		PASS	0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		15	294	15	294	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135020657	135020657	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:135020657G>C	ENST00000304613.3	+	20	3617	c.3596G>C	c.(3595-3597)cGc>cCc	p.R1199P	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1201P|KNDC1_ENST00000368571.2_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1199					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1199P(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACGCGGAACGCTGGGGCCTG	0.682																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3595-3597)CGC>CCC		kinase non-catalytic C-lobe domain (KIND)							24.0	22.0	23.0					10																	135020657		2181	4283	6464	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020657G>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3596G>C	10.37:g.135020657G>C	ENSP00000304437:p.Arg1199Pro					KNDC1_uc001lma.1_3'UTR	p.R1199P	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	20	3597	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1199					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3596G>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944091	0.34283	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.13196	2.61;2.62	3.77	-0.356	0.12583	.	0.504726	0.18959	U	0.126443	T	0.12220	0.0297	L	0.47716	1.5	0.33168	D	0.547894	P	0.43578	0.811	B	0.42462	0.388	T	0.20240	-1.0281	10	0.72032	D	0.01	-17.7588	6.7925	0.23707	0.5673:0.0:0.4327:0.0	.	1199	Q76NI1	VKIND_HUMAN	P	1199;1201	ENSP00000304437:R1199P;ENSP00000357561:R1201P	ENSP00000304437:R1199P	R	+	2	0	KNDC1	134870647	1.000000	0.71417	0.550000	0.28217	0.142000	0.21351	1.287000	0.33284	0.033000	0.15463	0.537000	0.68136	CGC		PASS	0.682	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		5	9	5	9	---	---	---	---
MTG1	92170	broad.mit.edu	37	10	135209741	135209741	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr10:135209741G>C	ENST00000317502.6	+	3	302	c.252G>C	c.(250-252)aaG>aaC	p.K84N	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.K89N|MTG1_ENST00000477902.2_Missense_Mutation_p.K43N	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	84	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K84N(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TCCTCAACAAGATGGACTTGG	0.502																																						uc001lnd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(250-252)AAG>AAC		GTP_binding protein precursor							171.0	168.0	169.0					10																	135209741		2203	4300	6503	SO:0001583	missense	92170					mitochondrion	GTP binding|protein binding	g.chr10:135209741G>C		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.252G>C	10.37:g.135209741G>C	ENSP00000323047:p.Lys84Asn					MTG1_uc010qve.1_5'UTR	p.K84N	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	3	356	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	84			GTP (By similarity).		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.252G>C	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.914542	0.72983	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.37058	1.22;1.22;1.22	5.4	-6.21	0.02065	.	2.058160	0.02841	N	0.128003	T	0.73361	0.3577	H	0.97852	4.09	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.76589	-0.2904	10	0.87932	D	0	1.4271	13.6476	0.62290	0.5795:0.0:0.4205:0.0	.	84	Q9BT17	MTG1_HUMAN	N	89;84;84;43	ENSP00000436767:K89N;ENSP00000323047:K84N;ENSP00000393480:K84N	ENSP00000323047:K84N	K	+	3	2	AL360181.1;MTG1	135059731	0.527000	0.26306	0.867000	0.34043	0.981000	0.71138	-0.574000	0.05868	-1.348000	0.02205	-0.362000	0.07510	AAG		PASS	0.502	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		4	129	4	129	---	---	---	---
IFITM2	10581	broad.mit.edu	37	11	308295	308295	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:308295C>A	ENST00000399817.4	+	1	133	c.103C>A	c.(103-105)Cac>Aac	p.H35N	IFITM2_ENST00000533141.1_Missense_Mutation_p.H15N|RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000602569.1_Missense_Mutation_p.H15N	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	35					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H35N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGGGTGCCCCACAACCCTGC	0.587																																						uc001lox.3																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)CAC>AAC		interferon induced transmembrane protein 2							74.0	98.0	90.0					11																	308295		1994	4160	6154	SO:0001583	missense	10581				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding	g.chr11:308295C>A	X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.103C>A	11.37:g.308295C>A	ENSP00000382714:p.His35Asn						p.H35N	NM_006435	NP_006426	Q01629	IFM2_HUMAN		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	189	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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)	35			Extracellular (Potential).		Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	c.103C>A	CCDS41583.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360247	0.41801	.	.	ENSG00000185201	ENST00000533141;ENST00000399817;ENST00000327366	T;T	0.78246	-1.16;-0.92	2.59	0.496	0.16896	.	1.928070	0.03703	U	0.248850	T	0.81819	0.4903	M	0.69523	2.12	0.09310	N	1	P	0.49358	0.923	P	0.52823	0.71	T	0.62300	-0.6883	10	0.59425	D	0.04	-0.7887	3.6532	0.08212	0.0:0.577:0.2618:0.1612	.	35	Q01629	IFM2_HUMAN	N	15;35;35	ENSP00000434443:H15N;ENSP00000382714:H35N	ENSP00000327996:H35N	H	+	1	0	IFITM2	298295	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.062000	0.11674	0.001000	0.14605	0.306000	0.20318	CAC		PASS	0.587	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		30	77	30	77	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1017439	1017439	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:1017439C>A	ENST00000421673.2	-	31	5412	c.5362G>T	c.(5362-5364)Gcc>Tcc	p.A1788S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1788	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.A1788S(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCTGGTGGCCGACGTGGTG	0.592																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5362-5364)GCC>TCC		mucin 6, gastric							487.0	479.0	482.0					11																	1017439		2202	4296	6498	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017439C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5362G>T	11.37:g.1017439C>A	ENSP00000406861:p.Ala1788Ser						p.A1788S	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5413	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1788			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5362G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	5.538	0.284253	0.10513	.	.	ENSG00000184956	ENST00000421673	T	0.20598	2.06	2.98	0.709	0.18150	.	.	.	.	.	T	0.29158	0.0725	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.62435	0.902	T	0.22695	-1.0209	9	0.10636	T	0.68	.	3.4683	0.07558	0.0:0.4895:0.2159:0.2946	.	1788	Q6W4X9	MUC6_HUMAN	S	1788	ENSP00000406861:A1788S	ENSP00000406861:A1788S	A	-	1	0	MUC6	1007439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.863000	0.00347	0.026000	0.15269	0.313000	0.20887	GCC		PASS	0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		39	346	39	346	---	---	---	---
KRTAP5-3	387266	broad.mit.edu	37	11	1629521	1629521	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:1629521C>A	ENST00000399685.1	-	1	172	c.95G>T	c.(94-96)gGc>gTc	p.G32V		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	32						keratin filament (GO:0045095)		p.G32V(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCAGCCGGAGCCACAGCCCCC	0.672																																						uc001ltw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(94-96)GGC>GTC		keratin associated protein 5-3							53.0	70.0	65.0					11																	1629521		2197	4286	6483	SO:0001583	missense	387266					keratin filament		g.chr11:1629521C>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.95G>T	11.37:g.1629521C>A	ENSP00000382592:p.Gly32Val						p.G32V	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	173	-		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)	32					Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.95G>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462490	0.12342	.	.	ENSG00000196224	ENST00000399685	T	0.03094	4.05	3.19	3.19	0.36642	.	.	.	.	.	T	0.14356	0.0347	M	0.81682	2.555	0.50313	D	0.999861	D	0.69078	0.997	P	0.62089	0.898	T	0.03840	-1.0999	9	0.33141	T	0.24	.	12.1934	0.54284	0.0:1.0:0.0:0.0	.	32	Q6L8H2	KRA53_HUMAN	V	32	ENSP00000382592:G32V	ENSP00000382592:G32V	G	-	2	0	KRTAP5-3	1586097	0.000000	0.05858	1.000000	0.80357	0.108000	0.19459	0.324000	0.19610	1.485000	0.48380	0.298000	0.19748	GGC		PASS	0.672	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			5	104	5	104	---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2154297	2154297	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:2154297G>C	ENST00000416167.2	-	4	1629	c.463C>G	c.(463-465)Cac>Gac	p.H155D	MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381392.1_Missense_Mutation_p.H158D|IGF2_ENST00000434045.2_Missense_Mutation_p.H211D|IGF2_ENST00000300632.5_Missense_Mutation_p.H155D|IGF2_ENST00000381406.4_Missense_Mutation_p.H158D|IGF2_ENST00000381395.1_Missense_Mutation_p.H155D|IGF2_ENST00000418738.2_Missense_Mutation_p.H155D|IGF2_ENST00000381389.1_Missense_Mutation_p.H155D			P01344	IGF2_HUMAN	insulin-like growth factor 2	155					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.H211D(1)|p.H155D(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGGGACGGTGACGTTTGGCC	0.692																																						uc009yde.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(463-465)CAC>GAC		insulin-like growth factor 2 isoform 1							51.0	55.0	54.0					11																	2154297		2202	4299	6501	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154297G>C	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.463C>G	11.37:g.2154297G>C	ENSP00000414497:p.His155Asp					IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.H155D|IGF2_uc009ydf.2_Missense_Mutation_p.H211D|IGF2_uc001lvh.2_Missense_Mutation_p.H155D|INS-IGF2_uc001lvi.2_RNA	p.H155D	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	566	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	155					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.463C>G	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741569	0.49151	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	3.06	3.06	0.35304	Insulin-like growth factor II E-peptide, C-terminal (2);	0.123238	0.53938	U	0.000049	T	0.65186	0.2667	M	0.81802	2.56	0.80722	D	1	P;P	0.49185	0.92;0.801	P;P	0.49192	0.551;0.602	T	0.72453	-0.4289	10	0.87932	D	0	-9.7241	11.2812	0.49195	0.0:0.0:1.0:0.0	.	211;155	C9JAF2;P01344	.;IGF2_HUMAN	D	155;158;155;155;158;211;158;155;155;155;158	ENSP00000370802:H155D;ENSP00000370813:H158D;ENSP00000414497:H155D;ENSP00000300632:H155D;ENSP00000391826:H211D;ENSP00000370799:H158D;ENSP00000370796:H155D;ENSP00000402047:H155D;ENSP00000338297:H155D	ENSP00000300632:H155D	H	-	1	0	IGF2	2110873	0.995000	0.38212	0.068000	0.19968	0.074000	0.17049	5.414000	0.66405	1.740000	0.51718	0.462000	0.41574	CAC		PASS	0.692	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		24	43	24	43	---	---	---	---
TSSC4	10078	broad.mit.edu	37	11	2424345	2424345	+	Missense_Mutation	SNP	G	G	A	rs200528668		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:2424345G>A	ENST00000333256.6	+	3	925	c.482G>A	c.(481-483)cGc>cAc	p.R161H	TSSC4_ENST00000451491.2_Missense_Mutation_p.R161H|TSSC4_ENST00000467308.1_3'UTR|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Missense_Mutation_p.R97H|TSSC4_ENST00000380996.5_Missense_Mutation_p.R97H			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	161								p.R161H(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCCGAGCGCTGGACCAAG	0.692																																						uc001lwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CGC>CAC		tumor suppressing subtransferable candidate 4							20.0	22.0	21.0					11																	2424345		2199	4294	6493	SO:0001583	missense	10078							g.chr11:2424345G>A	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.482G>A	11.37:g.2424345G>A	ENSP00000331087:p.Arg161His					TSSC4_uc001lwi.2_Missense_Mutation_p.R97H|TSSC4_uc001lwk.2_Missense_Mutation_p.R161H|TSSC4_uc001lwl.2_Missense_Mutation_p.R161H	p.R161H	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	843	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	161					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.482G>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559259	0.86335	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46	3.52	3.52	0.40303	.	0.000000	0.64402	U	0.000001	T	0.71796	0.3382	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77536	-0.2551	10	0.87932	D	0	-18.1438	14.603	0.68456	0.0:0.0:1.0:0.0	.	161;97	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	H	97;161;97;161;97;161;161	ENSP00000370384:R97H;ENSP00000331087:R161H;ENSP00000370380:R97H;ENSP00000396925:R161H;ENSP00000416937:R97H;ENSP00000435013:R161H;ENSP00000411224:R161H	ENSP00000331087:R161H	R	+	2	0	TSSC4	2380921	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.035000	0.88872	1.989000	0.58080	0.462000	0.41574	CGC		PASS	0.692	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		10	14	10	14	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4104115	4104115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:4104115G>T	ENST00000300737.4	+	9	1710	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	STIM1_ENST00000527651.1_Nonsense_Mutation_p.E381*|STIM1_ENST00000533977.1_Nonsense_Mutation_p.E208*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	381	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.E381*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TTTGCAGGCTGAGAAGATAAA	0.478																																						uc001lyv.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1141-1143)GAG>TAG		stromal interaction molecule 1 precursor							73.0	70.0	71.0					11																	4104115		2201	4298	6499	SO:0001587	stop_gained	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104115G>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1141G>T	11.37:g.4104115G>T	ENSP00000300737:p.Glu381*					STIM1_uc009yef.2_Nonsense_Mutation_p.E381*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E208*	p.E381*	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	9	1709	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	381			Cytoplasmic (Potential).|Potential.		E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1141G>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199330	0.94997	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.0712	17.7302	0.88375	0.0:0.0:1.0:0.0	.	.	.	.	X	381;381;208	.	ENSP00000300737:E381X	E	+	1	0	STIM1	4060691	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.461000	0.97646	2.423000	0.82170	0.455000	0.32223	GAG		PASS	0.478	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		13	28	13	28	---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510283	4510283	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:4510283C>A	ENST00000307632.3	+	1	175	c.153C>A	c.(151-153)atC>atA	p.I51I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I51I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTTCATTATCCAGGCTGATG	0.498																																						uc001lza.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)ATC>ATA		olfactory receptor, family 52, subfamily K,							167.0	157.0	160.0					11																	4510283		2201	4298	6499	SO:0001819	synonymous_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510283C>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.153C>A	11.37:g.4510283C>A							p.I51I	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	153	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	51			Cytoplasmic (Potential).		B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	c.153C>A	CCDS31352.1																																																																																				PASS	0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		34	63	34	63	---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510851	4510851	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:4510851G>T	ENST00000307632.3	+	1	743	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G241W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGGCATTTGGGACATGTGT	0.527																																						uc001lza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)GGG>TGG		olfactory receptor, family 52, subfamily K,							301.0	258.0	272.0					11																	4510851		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510851G>T	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.721G>T	11.37:g.4510851G>T	ENSP00000302422:p.Gly241Trp						p.G241W	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	721	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	241			Helical; Name=6; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.721G>T	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152642	0.38021	.	.	ENSG00000196778	ENST00000307632	T	0.00137	8.68	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.299670	0.24044	N	0.042061	T	0.00496	0.0016	M	0.87097	2.86	0.25334	N	0.989007	D	0.89917	1.0	D	0.97110	1.0	T	0.35871	-0.9771	10	0.87932	D	0	.	10.7977	0.46470	0.0931:0.0:0.9069:0.0	.	241	Q8NGK4	O52K1_HUMAN	W	241	ENSP00000302422:G241W	ENSP00000302422:G241W	G	+	1	0	OR52K1	4467427	0.000000	0.05858	1.000000	0.80357	0.604000	0.37047	0.504000	0.22626	2.487000	0.83934	0.411000	0.27672	GGG		PASS	0.527	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		54	117	54	117	---	---	---	---
OR51B5	282763	broad.mit.edu	37	11	5364168	5364168	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:5364168T>A	ENST00000300773.2	-	1	641	c.587A>T	c.(586-588)tAc>tTc	p.Y196F	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	196					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y196F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGCTGGGTACAGTCGGTT	0.428																																						uc001map.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(586-588)TAC>TTC		olfactory receptor, family 51, subfamily B,							106.0	111.0	109.0					11																	5364168		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364168T>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.587A>T	11.37:g.5364168T>A	ENSP00000300773:p.Tyr196Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.Y196F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	587	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	196			Helical; Name=5; (Potential).		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.587A>T	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718693	0.48622	.	.	ENSG00000242180	ENST00000300773	T	0.42513	0.97	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	N	0.001984	T	0.63082	0.2481	M	0.75615	2.305	0.30274	N	0.791988	D	0.89917	1.0	D	0.91635	0.999	T	0.64728	-0.6339	10	0.44086	T	0.13	.	13.5726	0.61856	0.0:0.0:0.0:1.0	.	196	Q9H339	O51B5_HUMAN	F	196	ENSP00000300773:Y196F	ENSP00000300773:Y196F	Y	-	2	0	OR51B5	5320744	0.981000	0.34729	0.986000	0.45419	0.364000	0.29643	2.518000	0.45537	2.078000	0.62432	0.529000	0.55759	TAC		PASS	0.428	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		28	56	28	56	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969290	5969290	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:5969290G>T	ENST00000329564.6	+	1	721	c.714G>T	c.(712-714)gtG>gtT	p.V238V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V238V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGCCGTGGCAAAGGCCC	0.522																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(712-714)GTG>GTT		olfactory receptor, family 56, subfamily A,							226.0	217.0	220.0					11																	5969290		2191	4294	6485	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969290G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.714G>T	11.37:g.5969290G>T							p.V238V	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	714	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	238			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.714G>T	CCDS41614.1																																																																																				PASS	0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		38	101	38	101	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6191304	6191304	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:6191304C>A	ENST00000530810.1	-	1	334	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A85S(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)		CAAAAGATGGCTAGGGCCTTG	0.488																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(253-255)GCC>TCC		olfactory receptor, family 52, subfamily B,							173.0	173.0	173.0					11																	6191304		2114	4250	6364	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191304C>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.253G>T	11.37:g.6191304C>A	ENSP00000432011:p.Ala85Ser						p.A85S	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	253	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	85			Extracellular (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.253G>T	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	2.420	-0.333430	0.05278	.	.	ENSG00000255307	ENST00000530810	D	0.83837	-1.77	5.02	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73869	0.3642	L	0.48218	1.51	0.09310	N	1	B	0.28055	0.199	B	0.23852	0.049	T	0.54754	-0.8246	9	0.16896	T	0.51	.	8.8897	0.35425	0.0:0.6298:0.232:0.1382	.	85	Q96RD2	O52B2_HUMAN	S	85	ENSP00000432011:A85S	ENSP00000432011:A85S	A	-	1	0	OR52B2	6147880	0.000000	0.05858	0.005000	0.12908	0.435000	0.31806	-0.349000	0.07731	0.038000	0.15604	-0.836000	0.03065	GCC		PASS	0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		19	56	19	56	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867383	6867383	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:6867383C>A	ENST00000299454.4	+	1	501	c.470C>A	c.(469-471)gCt>gAt	p.A157D	OR10A5_ENST00000379831.2_Missense_Mutation_p.A161D			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	157					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTCCTGTAGCTACTGTGCAG	0.537																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(469-471)GCT>GAT		olfactory receptor, family 10, subfamily A,							125.0	120.0	121.0					11																	6867383		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867383C>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.470C>A	11.37:g.6867383C>A	ENSP00000299454:p.Ala157Asp						p.A157D	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	470	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	157			Helical; Name=4; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.470C>A	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	17.05	3.289883	0.59976	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.42513	0.97;0.97	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.216636	0.32430	N	0.006103	T	0.65460	0.2693	M	0.84948	2.725	0.42202	D	0.991771	D	0.63046	0.992	D	0.70227	0.968	T	0.71784	-0.4488	10	0.56958	D	0.05	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	157	Q9H207	O10A5_HUMAN	D	157;161	ENSP00000299454:A157D;ENSP00000369159:A161D	ENSP00000299454:A157D	A	+	2	0	OR10A5	6823959	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	0.155000	0.16362	2.269000	0.75478	0.591000	0.81541	GCT		PASS	0.537	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		30	102	30	102	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8751621	8751621	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:8751621G>T	ENST00000534127.1	-	6	1601	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	ST5_ENST00000313726.6_Missense_Mutation_p.P406T|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.P406T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	406	Interaction with ABL1.|Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P406T(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCATTACTGGGCTTACTCTTG	0.607																																						uc001mgt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1216-1218)CCC>ACC		suppression of tumorigenicity 5 isoform 1							267.0	243.0	251.0					11																	8751621		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751621G>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1216C>A	11.37:g.8751621G>T	ENSP00000433528:p.Pro406Thr					ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.P406T|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.P406T	p.P406T	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	1402	-			406			Pro-rich.|Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1216C>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321837	0.60634	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.05382	3.45;3.45;3.45	6.11	6.11	0.99139	.	0.178920	0.51477	D	0.000093	T	0.10723	0.0262	L	0.53249	1.67	0.80722	D	1	B	0.28998	0.23	B	0.24006	0.05	T	0.03221	-1.1059	10	0.59425	D	0.04	-8.2545	20.7342	0.99715	0.0:0.0:1.0:0.0	.	406	P78524	ST5_HUMAN	T	406	ENSP00000433528:P406T;ENSP00000319678:P406T;ENSP00000350294:P406T	ENSP00000319678:P406T	P	-	1	0	ST5	8708197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.382000	0.73167	2.906000	0.99361	0.655000	0.94253	CCC		PASS	0.607	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		51	118	51	118	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668449	20668449	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:20668449G>T	ENST00000525748.1	+	14	2312	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	680					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.C680F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGAAAGTCTGCTGGGCATTT	0.403																																						uc001mqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2038-2040)TGC>TTC		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						134.0	121.0	126.0					11																	20668449		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20668449G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2039G>T	11.37:g.20668449G>T	ENSP00000434364:p.Cys680Phe					SLC6A5_uc009yic.2_Missense_Mutation_p.C445F	p.C680F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			14	2312	+			680			Helical; Name=11; (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2039G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813563	0.90790	.	.	ENSG00000165970	ENST00000525748	T	0.76448	-1.02	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.79011	2.435	0.80722	D	1	P	0.52463	0.953	P	0.62649	0.905	D	0.88603	0.3151	10	0.87932	D	0	.	20.1768	0.98178	0.0:0.0:1.0:0.0	.	680	Q9Y345	SC6A5_HUMAN	F	680	ENSP00000434364:C680F	ENSP00000434364:C680F	C	+	2	0	SLC6A5	20625025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.766000	0.95052	0.655000	0.94253	TGC		PASS	0.403	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		27	49	27	49	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22399257	22399257	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:22399257A>T	ENST00000263160.3	+	12	2157	c.1720A>T	c.(1720-1722)Agc>Tgc	p.S574C		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	574					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.S574C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGACTCACATAGCTATAAGGA	0.353																																						uc001mqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1720-1722)AGC>TGC		solute carrier family 17 (sodium-dependent							40.0	41.0	40.0					11																	22399257		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399257A>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1720A>T	11.37:g.22399257A>T	ENSP00000263160:p.Ser574Cys						p.S574C	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	2133	+			574			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1720A>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	9.593	1.126639	0.20959	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61274	0.12	5.85	1.87	0.25490	.	0.563404	0.18733	N	0.132684	T	0.38558	0.1045	N	0.19112	0.55	0.21719	N	0.999579	B	0.26845	0.161	B	0.27262	0.078	T	0.22941	-1.0202	10	0.38643	T	0.18	.	8.2059	0.31454	0.5529:0.3791:0.068:0.0	.	574	Q9P2U8	VGLU2_HUMAN	C	574;462	ENSP00000263160:S574C	ENSP00000263160:S574C	S	+	1	0	SLC17A6	22355833	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.789000	0.38724	0.406000	0.25560	0.460000	0.39030	AGC		PASS	0.353	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		16	16	16	16	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34145879	34145879	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:34145879C>A	ENST00000257829.3	+	11	1245	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	NAT10_ENST00000531159.2_Missense_Mutation_p.L275I|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	347						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.L347I(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TATCCAGTCTCTAAATCCTGA	0.393																																						uc001mvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1039-1041)CTA>ATA		N-acetyltransferase 10 isoform a							96.0	88.0	91.0					11																	34145879		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34145879C>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1039C>A	11.37:g.34145879C>A	ENSP00000257829:p.Leu347Ile					NAT10_uc010ren.1_Missense_Mutation_p.L275I	p.L347I	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			11	1283	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	347					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1039C>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649393	0.47362	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.30182	1.54;1.54	5.95	2.69	0.31865	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.21373	0.66	0.80722	D	1	B	0.06786	0.001	B	0.25759	0.063	T	0.04737	-1.0930	10	0.41790	T	0.15	-10.5738	8.207	0.31461	0.0:0.5438:0.0:0.4562	.	347	Q9H0A0	NAT10_HUMAN	I	347;275	ENSP00000257829:L347I;ENSP00000433011:L275I	ENSP00000257829:L347I	L	+	1	2	NAT10	34102455	0.738000	0.28186	0.988000	0.46212	0.860000	0.49131	0.468000	0.22051	0.754000	0.32968	0.655000	0.94253	CTA		PASS	0.393	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		11	38	11	38	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47594781	47594781	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:47594781C>A	ENST00000526005.1	-	4	1411	c.1258G>T	c.(1258-1260)Gca>Tca	p.A420S	KBTBD4_ENST00000430070.2_Missense_Mutation_p.A436S|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A420S|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Missense_Mutation_p.A445S|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	420								p.A420S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATGCGGCCTGCAAAGGGCAGC	0.527																																						uc001nfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1258-1260)GCA>TCA		kelch repeat and BTB (POZ) domain containing 4							116.0	101.0	106.0					11																	47594781		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47594781C>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1258G>T	11.37:g.47594781C>A	ENSP00000433340:p.Ala420Ser					PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.A445S|KBTBD4_uc001nfz.2_Missense_Mutation_p.A436S|KBTBD4_uc001nfy.2_Missense_Mutation_p.A420S	p.A420S	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			4	1429	-			420			Kelch 4.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.1258G>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018655	0.75275	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.04	5.11	0.69529	Kelch-type beta propeller (1);	0.047484	0.85682	D	0.000000	T	0.71074	0.3297	L	0.34521	1.04	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.965	D;D;P	0.76071	0.987;0.97;0.777	T	0.72991	-0.4123	10	0.49607	T	0.09	-12.8744	17.1483	0.86772	0.0:0.8736:0.1264:0.0	.	436;420;445	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	S	420;445;420;436	ENSP00000433340:A420S;ENSP00000436713:A445S;ENSP00000378703:A420S;ENSP00000415106:A436S	ENSP00000378703:A420S	A	-	1	0	KBTBD4	47551357	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.487000	0.81328	1.507000	0.48752	0.563000	0.77884	GCA		PASS	0.527	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		20	53	20	53	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62469965	62469965	+	Missense_Mutation	SNP	G	G	A	rs137852973		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:62469965G>A	ENST00000403550.1	-	3	692	c.269C>T	c.(268-270)tCg>tTg	p.S90L	BSCL2_ENST00000278893.7_Missense_Mutation_p.S90L|BSCL2_ENST00000360796.5_Missense_Mutation_p.S154L|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Missense_Mutation_p.S154L|BSCL2_ENST00000407022.3_Missense_Mutation_p.S90L|BSCL2_ENST00000421906.1_Missense_Mutation_p.S90L|BSCL2_ENST00000405837.1_Missense_Mutation_p.S154L			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	90			S -> L (in SPG17 and HMN5A; does not affect the function in lipid storage). {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:21533227}.		cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.S90L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTTAGTCAGCGAGACATTGGC	0.473																																						uc001nuo.1																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM040382	BSCL2	M	rs137852973	c.(268-270)TCG>TTG		seipin isoform 2							174.0	136.0	149.0					11																	62469965		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62469965G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.269C>T	11.37:g.62469965G>A	ENSP00000385561:p.Ser90Leu					BSCL2_uc009yoc.1_Missense_Mutation_p.S90L|BSCL2_uc001nup.2_Missense_Mutation_p.S90L|BSCL2_uc001nuq.1_Missense_Mutation_p.S90L|BSCL2_uc001nur.3_Missense_Mutation_p.S154L|BSCL2_uc009yod.2_Missense_Mutation_p.S154L|BSCL2_uc001nut.3_Missense_Mutation_p.S154L|HNRNPUL2_uc001nuu.1_RNA	p.S90L	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			3	693	-			90		S -> L (in SPG17 and DSMAV).	Lumenal (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.269C>T	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003646	0.93287	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982	D;D;D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.64	5.64	0.86602	.	0.082226	0.50627	U	0.000109	D	0.94215	0.8143	M	0.80847	2.515	0.58432	D	0.999998	D;D;D;D	0.76494	0.994;0.986;0.995;0.999	P;P;P;D	0.66716	0.738;0.757;0.814;0.946	D	0.93837	0.7133	10	0.48119	T	0.1	-5.7522	17.206	0.86918	0.0:0.0:1.0:0.0	.	90;90;154;90	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	L	154;154;90;154;90;90;90;90;154;90	ENSP00000385332:S154L;ENSP00000414002:S154L;ENSP00000278893:S90L;ENSP00000354032:S154L;ENSP00000385561:S90L;ENSP00000384080:S90L;ENSP00000413209:S90L;ENSP00000413340:S90L;ENSP00000433888:S154L;ENSP00000434149:S90L	ENSP00000278893:S90L	S	-	2	0	BSCL2	62226541	1.000000	0.71417	0.977000	0.42913	0.886000	0.51366	7.690000	0.84178	2.681000	0.91329	0.561000	0.74099	TCG		PASS	0.473	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		3	14	3	14	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62591738	62591738	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:62591738C>G	ENST00000294179.3	-	10	961	c.808G>C	c.(808-810)Gca>Cca	p.A270P	STX5_ENST00000394690.1_Missense_Mutation_p.A216P|STX5_ENST00000377897.4_Missense_Mutation_p.A270P|STX5_ENST00000541317.1_Missense_Mutation_p.A174P	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	270	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.A270P(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ATGGTGTCTGCCCGACTCTGG	0.498																																						uc001nvh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(808-810)GCA>CCA		syntaxin 5							201.0	183.0	189.0					11																	62591738		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62591738C>G	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.808G>C	11.37:g.62591738C>G	ENSP00000294179:p.Ala270Pro					STX5_uc010rmi.1_Missense_Mutation_p.A174P|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.A216P|STX5_uc010rmj.1_Missense_Mutation_p.A270P|STX5_uc001nvj.2_Missense_Mutation_p.A85P	p.A270P	NM_003164	NP_003155	Q13190	STX5_HUMAN			10	962	-			270			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.808G>C	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409827	0.83340	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.82	4.82	0.62117	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.052009	0.85682	D	0.000000	T	0.58061	0.2096	M	0.91818	3.245	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.69824	0.951;0.966	T	0.65602	-0.6128	10	0.46703	T	0.11	0.6147	15.4501	0.75265	0.0:1.0:0.0:0.0	.	270;270	F8W8Q9;Q13190	.;STX5_HUMAN	P	270;270;216;174	ENSP00000367129:A270P;ENSP00000294179:A270P;ENSP00000378182:A216P;ENSP00000441428:A174P	ENSP00000294179:A270P	A	-	1	0	STX5	62348314	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.314000	0.78988	2.524000	0.85096	0.462000	0.41574	GCA		PASS	0.498	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		15	62	15	62	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63517542	63517542	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:63517542G>T	ENST00000377819.5	+	4	2764	c.2610G>T	c.(2608-2610)ctG>ctT	p.L870L	RTN3_ENST00000540798.1_Silent_p.L758L|RTN3_ENST00000341307.2_Silent_p.L74L|RTN3_ENST00000537981.1_Silent_p.L74L|RTN3_ENST00000356000.3_Silent_p.L93L|RTN3_ENST00000354497.4_Silent_p.L74L|RTN3_ENST00000339997.4_Silent_p.L851L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	870	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L74L(1)|p.L851L(1)|p.L93L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGCTTTCCCTGGCAGCTTTCA	0.473																																						uc001nxq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(2608-2610)CTG>CTT		reticulon 3 isoform b							109.0	86.0	94.0					11																	63517542		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63517542G>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2610G>T	11.37:g.63517542G>T						RTN3_uc001nxo.2_Silent_p.L74L|RTN3_uc001nxm.2_Silent_p.L93L|RTN3_uc001nxn.2_Silent_p.L851L|RTN3_uc001nxp.2_Silent_p.L74L|RTN3_uc009yov.2_Silent_p.L758L|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Silent_p.L74L	p.L870L	NM_201428	NP_958831	O95197	RTN3_HUMAN			4	2797	+			870			Helical; (Potential).|Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.2610G>T	CCDS58141.1																																																																																				PASS	0.473	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		9	10	9	10	---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64695367	64695367	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:64695367C>A	ENST00000164133.2	+	4	1112	c.490C>A	c.(490-492)Cac>Aac	p.H164N		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.H164N(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TTCGTGGCCACACCTGCAGGT	0.537																																						uc001oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(490-492)CAC>AAC		beta isoform of regulatory subunit B56, protein							71.0	65.0	67.0					11																	64695367		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695367C>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.490C>A	11.37:g.64695367C>A	ENSP00000164133:p.His164Asn					PPP2R5B_uc001obz.2_Missense_Mutation_p.H164N	p.H164N	NM_006244	NP_006235	Q15173	2A5B_HUMAN			4	1075	+			164					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.490C>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345788	0.82022	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.51	3.51	0.40186	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	H	0.97465	4.01	0.80722	D	1	D	0.57571	0.98	D	0.79784	0.993	D	0.91024	0.4859	9	0.87932	D	0	-18.8277	13.3646	0.60676	0.0:1.0:0.0:0.0	.	164	Q15173	2A5B_HUMAN	N	164;164;191;78;164	.	ENSP00000164133:H164N	H	+	1	0	PPP2R5B	64451943	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.628000	0.67791	2.284000	0.76573	0.561000	0.74099	CAC		PASS	0.537	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		16	29	16	29	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64813812	64813812	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:64813812C>A	ENST00000358658.3	-	15	1731	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	NAALADL1_ENST00000340252.4_Silent_p.V619V|NAALADL1_ENST00000339885.2_Missense_Mutation_p.W538L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G511C|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000355721.3_Silent_p.V527V|NAALADL1_ENST00000356632.3_Silent_p.V533V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	568	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.V568V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTGTCCGGGCCACAGCCTGAT	0.612																																						uc001ocn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1702-1704)GTG>GTT		N-acetylated alpha-linked acidic							54.0	48.0	50.0					11																	64813812		2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64813812C>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1704G>T	11.37:g.64813812C>A						NAALADL1_uc010rnw.1_Silent_p.V44V|NAALADL1_uc009ypz.2_RNA	p.V568V	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			15	1720	-			568			NAALADase.|Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.1704G>T	CCDS31604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.33|12.33	1.904926|1.904926	0.33628|0.33628	.|.	.|.	ENSG00000168060|ENSG00000168060	ENST00000355369|ENST00000339885	T|T	0.55234|0.44881	0.53|0.91	4.6|4.6	-0.769|-0.769	0.11009|0.11009	.|.	.|.	.|.	.|.	.|.	T|T	0.40398|0.40398	0.1115|0.1115	.|.	.|.	.|.	0.24157|0.24157	N|N	0.995675|0.995675	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42899|0.42899	-0.9424|-0.9424	6|6	0.87932|0.66056	D|D	0|0.02	-26.2671|-26.2671	8.2459|8.2459	0.31689|0.31689	0.0:0.3804:0.0:0.6196|0.0:0.3804:0.0:0.6196	.|.	.|.	.|.	.|.	C|L	511|538	ENSP00000347530:G511C|ENSP00000340111:W538L	ENSP00000347530:G511C|ENSP00000340111:W538L	G|W	-|-	1|2	0|0	NAALADL1|NAALADL1	64570388|64570388	0.560000|0.560000	0.26570|0.26570	0.786000|0.786000	0.31890|0.31890	0.683000|0.683000	0.39861|0.39861	-0.392000|-0.392000	0.07314|0.07314	-0.009000|-0.009000	0.14296|0.14296	-0.367000|-0.367000	0.07326|0.07326	GGC|TGG		PASS	0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		10	18	10	18	---	---	---	---
MUS81	80198	broad.mit.edu	37	11	65633352	65633352	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:65633352G>T	ENST00000308110.4	+	15	1925	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.G451W	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	526					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G526W(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CATTAAGTGTGGGCGTCTACA	0.632								Homologous recombination																														uc001ofv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1576-1578)GGG>TGG	Homologous_recombination	MUS81 endonuclease homolog							93.0	96.0	95.0					11																	65633352		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633352G>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1576G>T	11.37:g.65633352G>T	ENSP00000307853:p.Gly526Trp					MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_Missense_Mutation_p.G83W	p.G526W	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1929	+			526					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1576G>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930619	0.73327	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.57752	2.37;2.59;0.38	5.23	5.23	0.72850	.	0.107189	0.64402	D	0.000005	T	0.78515	0.4295	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83779	0.0224	10	0.87932	D	0	-23.7033	16.2822	0.82697	0.0:0.0:1.0:0.0	.	526	Q96NY9	MUS81_HUMAN	W	451;526;526;59	ENSP00000432287:G451W;ENSP00000307853:G526W;ENSP00000435277:G59W	ENSP00000307853:G526W	G	+	1	0	MUS81	65389928	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	5.727000	0.68523	2.451000	0.82905	0.561000	0.74099	GGG		PASS	0.632	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		17	43	17	43	---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67864490	67864490	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:67864490T>A	ENST00000265689.4	-	2	484	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	CHKA_ENST00000356135.5_Missense_Mutation_p.Q153L	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	153					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.Q153L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	ACTCACCATCTGCAAAATCGC	0.473																																						uc001onj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(457-459)CAG>CTG		choline kinase alpha isoform a	Choline(DB00122)						75.0	68.0	70.0					11																	67864490		2200	4294	6494	SO:0001583	missense	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67864490T>A	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.458A>T	11.37:g.67864490T>A	ENSP00000265689:p.Gln153Leu					CHKA_uc001onk.2_Missense_Mutation_p.Q153L	p.Q153L	NM_001277	NP_001268	P35790	CHKA_HUMAN			2	672	-			153					Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	c.458A>T	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241883	0.58995	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.58797	0.31;0.41;0.73	5.74	5.74	0.90152	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.183542	0.48767	D	0.000167	T	0.58736	0.2143	L	0.61036	1.89	0.51482	D	0.99992	B;B	0.32653	0.031;0.379	B;B	0.34536	0.01;0.185	T	0.61783	-0.6992	10	0.62326	D	0.03	-10.4598	16.0499	0.80749	0.0:0.0:0.0:1.0	.	153;153	P35790-2;P35790	.;CHKA_HUMAN	L	153;153;31	ENSP00000265689:Q153L;ENSP00000348454:Q153L;ENSP00000435032:Q31L	ENSP00000265689:Q153L	Q	-	2	0	CHKA	67621066	1.000000	0.71417	0.925000	0.36789	0.728000	0.41692	5.472000	0.66768	2.193000	0.70182	0.533000	0.62120	CAG		PASS	0.473	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		8	20	8	20	---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67925195	67925195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:67925195G>T	ENST00000304363.4	-	11	2971	c.2618C>A	c.(2617-2619)tCa>tAa	p.S873*		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	873					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.S873*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTCTCCTTGAAGAAATGTC	0.358																																						uc001onm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(2617-2619)TCA>TAA		suppressor of variegation 4-20 homolog 1 isoform							50.0	51.0	51.0					11																	67925195		2200	4294	6494	SO:0001587	stop_gained	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925195G>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2618C>A	11.37:g.67925195G>T	ENSP00000305899:p.Ser873*					SUV420H1_uc009yse.1_Nonsense_Mutation_p.S459*|SUV420H1_uc001onn.1_Nonsense_Mutation_p.S701*|SUV420H1_uc009ysf.2_Nonsense_Mutation_p.S633*	p.S873*	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2874	-			873					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	37	c.2618C>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	41	8.571413	0.98868	.	.	ENSG00000110066	ENST00000304363	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4721	18.7498	0.91809	0.0:0.0:1.0:0.0	.	.	.	.	X	873	.	ENSP00000305899:S873X	S	-	2	0	SUV420H1	67681771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.515000	0.84797	0.484000	0.47621	TCA		PASS	0.358	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		13	44	13	44	---	---	---	---
UCP2	7351	broad.mit.edu	37	11	73688003	73688003	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:73688003C>A	ENST00000310473.3	-	5	1239	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	UCP2_ENST00000536983.1_Missense_Mutation_p.V133L|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	133					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V133L(1)		large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGCTGGGCCACAGCCACAGCC	0.637																																					Colon(191;388 2040 43557 45622 48925)	uc001oup.1																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)GTG>TTG		uncoupling protein 2							63.0	63.0	63.0					11																	73688003		2200	4293	6493	SO:0001583	missense	7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73688003C>A	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.397G>T	11.37:g.73688003C>A	ENSP00000312029:p.Val133Leu					UCP2_uc001ouq.1_Missense_Mutation_p.V133L	p.V133L	NM_003355	NP_003346	P55851	UCP2_HUMAN			5	777	-	Breast(11;0.000112)		133			Solcar 2.|Helical; Name=3; (Potential).		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	c.397G>T	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093279	0.36952	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615;ENST00000545212	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.92	4.96	0.65561	Mitochondrial carrier domain (2);	0.193568	0.44902	D	0.000419	T	0.67021	0.2849	N	0.16903	0.455	0.46241	D	0.998947	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61287	-0.7093	10	0.31617	T	0.26	-16.5733	13.6511	0.62312	0.2203:0.7797:0.0:0.0	.	133;133	F5GX45;P55851	.;UCP2_HUMAN	L	133;133;106;17	ENSP00000312029:V133L;ENSP00000441147:V133L;ENSP00000439951:V106L;ENSP00000439706:V17L	ENSP00000312029:V133L	V	-	1	0	UCP2	73365651	0.015000	0.18098	1.000000	0.80357	0.996000	0.88848	0.282000	0.18829	2.813000	0.96785	0.561000	0.74099	GTG		PASS	0.637	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		25	61	25	61	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76234316	76234316	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:76234316C>A	ENST00000529032.1	+	11	1802	c.1802C>A	c.(1801-1803)aCa>aAa	p.T601K	C11orf30_ENST00000334736.3_Missense_Mutation_p.T601K|C11orf30_ENST00000343878.3_Missense_Mutation_p.T601K|C11orf30_ENST00000525038.1_Missense_Mutation_p.T616K|C11orf30_ENST00000525919.1_Missense_Mutation_p.T602K|C11orf30_ENST00000524490.1_Missense_Mutation_p.T517K|C11orf30_ENST00000524767.1_Missense_Mutation_p.T616K|C11orf30_ENST00000533248.1_Missense_Mutation_p.T615K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	601	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T601K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AATGTTGTCACAACGTTGCTA	0.418																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1801-1803)ACA>AAA		EMSY protein							78.0	72.0	74.0					11																	76234316		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76234316C>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1802C>A	11.37:g.76234316C>A	ENSP00000432327:p.Thr601Lys					C11orf30_uc001oxm.2_Missense_Mutation_p.T517K|C11orf30_uc010rsb.1_Missense_Mutation_p.T616K|C11orf30_uc010rsc.1_Missense_Mutation_p.T616K|C11orf30_uc001oxn.2_Missense_Mutation_p.T602K|C11orf30_uc010rsd.1_Missense_Mutation_p.T615K	p.T601K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			12	1945	+			601			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1802C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970780	0.74246	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.78314	0.987;0.987;0.987;0.991;0.987;0.991	T	0.59434	-0.7455	9	0.20519	T	0.43	-7.6013	19.2358	0.93858	0.0:1.0:0.0:0.0	.	615;616;616;602;517;601	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	K	517;601;601;616;615;602;616;601	.	ENSP00000334130:T601K	T	+	2	0	C11orf30	75911964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	ACA		PASS	0.418	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		6	59	6	59	---	---	---	---
RAB38	23682	broad.mit.edu	37	11	87908499	87908499	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:87908499C>A	ENST00000243662.6	-	1	136	c.54G>T	c.(52-54)ctG>ctT	p.L18L	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	18					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.L18L(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCCCCACGCCCAGGTCGCCAA	0.637																																						uc001pcj.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(52-54)CTG>CTT		RAB38							108.0	82.0	91.0					11																	87908499		2201	4299	6500	SO:0001819	synonymous_variant	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87908499C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.54G>T	11.37:g.87908499C>A						hsa-mir-3166|MI0014196_5'Flank	p.L18L	NM_022337	NP_071732	P57729	RAB38_HUMAN			1	101	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	18			GTP (By similarity).		Q53XK7	Silent	SNP	ENST00000243662.6	37	c.54G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.551|9.551	1.115876|1.115876	0.20795|0.20795	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000531138|ENST00000526372	.|.	.|.	.|.	5.1|5.1	3.19|3.19	0.36642|0.36642	.|.	.|.	.|.	.|.	.|.	T|T	0.61324|0.61324	0.2338|0.2338	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57130|0.57130	-0.7864|-0.7864	4|4	.|.	.|.	.|.	-14.0726|-14.0726	10.9308|10.9308	0.47217|0.47217	0.0:0.799:0.13:0.0709|0.0:0.799:0.13:0.0709	.|.	.|.	.|.	.|.	W|L	35|35	.|.	.|.	G|W	-|-	1|2	0|0	RAB38|RAB38	87548147|87548147	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.029000|0.029000	0.11900|0.11900	0.521000|0.521000	0.22893|0.22893	0.693000|0.693000	0.31634|0.31634	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.637	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			13	31	13	31	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113630951	113630951	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:113630951C>A	ENST00000200135.3	-	5	704	c.560G>T	c.(559-561)tGg>tTg	p.W187L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	187	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.W187L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGGAACTTCCATACAATCAG	0.398																																						uc001poe.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(559-561)TGG>TTG		centromere/kinetochore protein zw10							152.0	125.0	134.0					11																	113630951		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113630951C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.560G>T	11.37:g.113630951C>A	ENSP00000200135:p.Trp187Leu					ZW10_uc009yyv.2_RNA	p.W187L	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	5	597	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	187			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.560G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974580	0.74246	.	.	ENSG00000086827	ENST00000200135	T	0.39592	1.07	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.64404	1.975	0.80722	D	1	P	0.49635	0.926	P	0.52646	0.705	T	0.41680	-0.9495	10	0.16896	T	0.51	-7.815	17.3745	0.87387	0.0:1.0:0.0:0.0	.	187	O43264	ZW10_HUMAN	L	187	ENSP00000200135:W187L	ENSP00000200135:W187L	W	-	2	0	ZW10	113136161	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	6.972000	0.76110	2.577000	0.86979	0.313000	0.20887	TGG		PASS	0.398	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		20	46	20	46	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124006897	124006897	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:124006897A>T	ENST00000456829.2	+	13	1672	c.1421A>T	c.(1420-1422)cAt>cTt	p.H474L	VWA5A_ENST00000392748.1_Missense_Mutation_p.H474L|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	474								p.H474L(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGAGCTGGCATTTGCCTCCT	0.493																																						uc001pzu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1420-1422)CAT>CTT		BCSC-1 isoform 1							162.0	148.0	153.0					11																	124006897		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124006897A>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1421A>T	11.37:g.124006897A>T	ENSP00000407726:p.His474Leu					VWA5A_uc001pzt.2_Missense_Mutation_p.H474L	p.H474L	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			13	1630	+			474					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1421A>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	6.725	0.502563	0.12822	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.03920	3.76;3.76	5.35	3.05	0.35203	.	0.892392	0.09727	N	0.763623	T	0.03739	0.0106	N	0.22421	0.69	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.38693	-0.9649	10	0.21540	T	0.41	-1.7286	6.5434	0.22392	0.4327:0.467:0.1002:0.0	.	474	O00534	VMA5A_HUMAN	L	474	ENSP00000407726:H474L;ENSP00000376504:H474L	ENSP00000376504:H474L	H	+	2	0	VWA5A	123512107	0.045000	0.20229	0.985000	0.45067	0.909000	0.53808	0.512000	0.22755	0.346000	0.23899	0.528000	0.53228	CAT		PASS	0.493	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		56	98	56	98	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124412838	124412838	+	Missense_Mutation	SNP	C	C	G	rs61747005	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:124412838C>G	ENST00000306842.2	-	1	737	c.713G>C	c.(712-714)aGt>aCt	p.S238T		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S238T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ACTGCAAGTACTAAAGGCTTT	0.448																																						uc010sam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(712-714)AGT>ACT		olfactory receptor, family 8, subfamily B,							90.0	82.0	85.0					11																	124412838		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412838C>G		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.713G>C	11.37:g.124412838C>G	ENSP00000307159:p.Ser238Thr						p.S238T	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	713	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	238			Helical; Name=6; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.713G>C	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192320	0.21954	.	.	ENSG00000170953	ENST00000306842	T	0.00295	8.25	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.177396	0.40302	N	0.001126	T	0.00580	0.0019	M	0.89414	3.03	0.09310	N	1	P	0.43412	0.806	P	0.58130	0.833	T	0.14559	-1.0468	10	0.72032	D	0.01	.	7.1422	0.25562	0.1911:0.6237:0.1852:0.0	.	238	Q8NGG6	OR8BC_HUMAN	T	238	ENSP00000307159:S238T	ENSP00000307159:S238T	S	-	2	0	OR8B12	123918048	0.000000	0.05858	0.888000	0.34837	0.136000	0.21042	0.053000	0.14184	2.457000	0.83068	0.650000	0.86243	AGT		PASS	0.448	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			10	13	10	13	---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124950581	124950581	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:124950581G>A	ENST00000403796.2	+	7	900	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SLC37A2_ENST00000298280.5_Missense_Mutation_p.G200D|SLC37A2_ENST00000407458.1_Missense_Mutation_p.G200D|SLC37A2_ENST00000308074.4_Missense_Mutation_p.G200D	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	200					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.G200D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTGATCGCCGGCATCTGGGTG	0.592																																					Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(598-600)GGC>GAC		solute carrier family 37 (glycerol-3-phosphate							86.0	74.0	78.0					11																	124950581		2201	4299	6500	SO:0001583	missense	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124950581G>A	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.599G>A	11.37:g.124950581G>A	ENSP00000384407:p.Gly200Asp					SLC37A2_uc010sau.1_Missense_Mutation_p.G200D|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	p.G200D	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	7	850	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	200			Helical; (Potential).		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	c.599G>A	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088855	0.76756	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.78314	0.991;0.98	D	0.87747	0.2589	10	0.87932	D	0	-24.1353	18.6527	0.91437	0.0:0.0:1.0:0.0	.	200;200	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	D	200	ENSP00000384407:G200D;ENSP00000385126:G200D;ENSP00000298280:G200D;ENSP00000311833:G200D	ENSP00000298280:G200D	G	+	2	0	SLC37A2	124455791	1.000000	0.71417	0.789000	0.31954	0.283000	0.27025	9.625000	0.98406	2.653000	0.90120	0.563000	0.77884	GGC		PASS	0.592	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		3	45	3	45	---	---	---	---
KCNJ1	3758	broad.mit.edu	37	11	128710080	128710080	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:128710080C>T	ENST00000392664.2	-	2	232	c.116G>A	c.(115-117)aGa>aAa	p.R39K	KCNJ1_ENST00000392665.2_Missense_Mutation_p.R20K|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R20K|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R20K|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R20K	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	39					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.R39K(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)	TAGCCTTGCTCTTTGCCGAGA	0.428																																						uc001qeo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(115-117)AGA>AAA		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)						141.0	135.0	137.0					11																	128710080		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710080C>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.116G>A	11.37:g.128710080C>T	ENSP00000376432:p.Arg39Lys					KCNJ1_uc001qep.1_Missense_Mutation_p.R20K|KCNJ1_uc001qeq.1_Missense_Mutation_p.R20K|KCNJ1_uc001qer.1_Missense_Mutation_p.R20K|KCNJ1_uc001qes.1_Missense_Mutation_p.R20K	p.R39K	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	167	-	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)	39			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.116G>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	c	3.931	-0.016143	0.07681	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94650	-2.67;-2.67;-2.67;-2.67;-2.59;-3.48	5.66	4.75	0.60458	.	0.187222	0.56097	N	0.000024	D	0.86887	0.6041	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.76460	-0.2951	10	0.36615	T	0.2	.	12.8431	0.57815	0.0:0.8645:0.0:0.1355	.	39	P48048	IRK1_HUMAN	K	20;20;20;20;39;20	ENSP00000376433:R20K;ENSP00000376434:R20K;ENSP00000406320:R20K;ENSP00000316233:R20K;ENSP00000376432:R39K;ENSP00000316136:R20K	ENSP00000316136:R20K	R	-	2	0	KCNJ1	128215290	0.895000	0.30542	0.191000	0.23289	0.102000	0.19082	1.557000	0.36299	1.423000	0.47198	-0.372000	0.07161	AGA		PASS	0.428	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		30	93	30	93	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134212652	134212652	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr11:134212652G>T	ENST00000535456.2	+	2	279	c.91G>T	c.(91-93)Gac>Tac	p.D31Y	GLB1L2_ENST00000389881.3_Missense_Mutation_p.D31Y|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D31Y	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	31					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.D31Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCCAGGCTGGACTGGAGCAC	0.617																																						uc001qhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(91-93)GAC>TAC		galactosidase, beta 1-like 2 precursor							43.0	46.0	45.0					11																	134212652		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134212652G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.91G>T	11.37:g.134212652G>T	ENSP00000444628:p.Asp31Tyr						p.D31Y	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	2	279	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	31					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.91G>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760534	0.49468	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.97138	-4.26;-4.26;-4.26	4.86	-7.21	0.01490	.	1.118220	0.06471	N	0.731047	D	0.91925	0.7443	N	0.08118	0	0.09310	N	1	P	0.52061	0.95	P	0.50049	0.629	D	0.86904	0.2056	10	0.72032	D	0.01	-7.3891	6.264	0.20915	0.6695:0.1068:0.117:0.1067	.	31	Q8IW92	GLBL2_HUMAN	Y	31	ENSP00000344659:D31Y;ENSP00000444628:D31Y;ENSP00000374531:D31Y	ENSP00000344659:D31Y	D	+	1	0	GLB1L2	133717862	0.953000	0.32496	0.000000	0.03702	0.000000	0.00434	-0.046000	0.11983	-1.453000	0.01928	-0.895000	0.02911	GAC		PASS	0.617	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		13	36	13	36	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247966	247966	+	Silent	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:247966G>C	ENST00000538872.1	+	4	1555	c.1437G>C	c.(1435-1437)ggG>ggC	p.G479G	IQSEC3_ENST00000326261.4_Silent_p.G479G|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.G176G|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	479					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G479G(1)|p.G176G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCACAGCGGGACCCTCATGA	0.741																																						uc001qhw.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(526-528)GGG>GGC		IQ motif and Sec7 domain 3							28.0	27.0	27.0					12																	247966		2202	4300	6502	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247966G>C	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1437G>C	12.37:g.247966G>C						IQSEC3_uc001qhu.1_Silent_p.G176G|IQSEC3_uc001qht.1_Silent_p.G261G|uc001qhv.1_Intron	p.G176G	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	534	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		479					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.528G>C	CCDS53728.1																																																																																				PASS	0.741	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		5	15	5	15	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9009811	9009811	+	Missense_Mutation	SNP	C	C	G	rs202194008		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:9009811C>G	ENST00000299698.7	+	24	3080	c.2900C>G	c.(2899-2901)cCc>cGc	p.P967R	A2ML1_ENST00000539547.1_Missense_Mutation_p.P476R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.P967R(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGCAGATGCCCAGTGGCTGT	0.547																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2899-2901)CCC>CGC		alpha-2-macroglobulin-like 1 precursor							123.0	128.0	126.0					12																	9009811		2006	4180	6186	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9009811C>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2900C>G	12.37:g.9009811C>G	ENSP00000299698:p.Pro967Arg					A2ML1_uc001qva.1_Missense_Mutation_p.P547R|A2ML1_uc010sgm.1_Missense_Mutation_p.P467R	p.P967R	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			24	2998	+			811						Missense_Mutation	SNP	ENST00000299698.7	37	c.2900C>G	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026185	0.75390	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	D;D;D	0.95821	-3.82;-3.82;-3.82	3.73	3.73	0.42828	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.000000	0.52532	D	0.000070	D	0.98356	0.9454	H	0.96460	3.825	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	14.59	0.68356	0.0:1.0:0.0:0.0	.	967	A8K2U0	A2ML1_HUMAN	R	967;967;517;476	ENSP00000299698:P967R;ENSP00000443174:P517R;ENSP00000438292:P476R	ENSP00000299698:P967R	P	+	2	0	A2ML1	8901078	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	5.767000	0.68850	2.076000	0.62316	0.462000	0.41574	CCC		PASS	0.547	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		27	50	27	50	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506888	11506888	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:11506888G>T	ENST00000500254.2	-	3	186	c.149C>A	c.(148-150)cCc>cAc	p.P50H	PRB1_ENST00000545626.1_Missense_Mutation_p.P50H|PRB1_ENST00000546254.1_Missense_Mutation_p.P50H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)		p.P50H(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGGAGGTGGGGGGCCCTGGGG	0.567																																						uc001qzw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CCC>CAC		proline-rich protein BstNI subfamily 1 isoform 1							105.0	130.0	122.0					12																	11506888		2160	4269	6429	SO:0001583	missense	5542					extracellular region		g.chr12:11506888G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.149C>A	12.37:g.11506888G>T	ENSP00000420826:p.Pro50His					PRB1_uc001qzu.1_Missense_Mutation_p.P50H|PRB1_uc001qzv.1_Missense_Mutation_p.P50H	p.P50H	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	186	-			50					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.149C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	2.271	-0.366933	0.05069	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.08634	3.07;3.07;3.07	1.37	-2.74	0.05932	.	.	.	.	.	T	0.09555	0.0235	M	0.80982	2.52	0.09310	N	1	P;P;P	0.39094	0.659;0.659;0.659	B;B;B	0.34722	0.188;0.188;0.188	T	0.09143	-1.0688	9	0.72032	D	0.01	.	3.476	0.07585	0.1558:0.0:0.4325:0.4117	.	57;50;50	Q86YA1;G3V1R1;G3V1M9	.;.;.	H	50	ENSP00000444249:P50H;ENSP00000420826:P50H;ENSP00000442127:P50H	ENSP00000420826:P50H	P	-	2	0	PRB1	11398155	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.262000	0.18460	-0.873000	0.04032	-0.750000	0.03501	CCC		PASS	0.567	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		51	114	51	114	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12315200	12315200	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:12315200C>A	ENST00000261349.4	-	10	2282	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	LRP6_ENST00000543091.1_Missense_Mutation_p.G736W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	736	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G736W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGGTGCTGCCCATCCAACTTT	0.498																																						uc001rah.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2206-2208)GGG>TGG		low density lipoprotein receptor-related protein							224.0	185.0	198.0					12																	12315200		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12315200C>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2206G>T	12.37:g.12315200C>A	ENSP00000261349:p.Gly736Trp					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G736W	p.G736W	NM_002336	NP_002327	O75581	LRP6_HUMAN			10	2348	-		Prostate(47;0.0865)	736			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 12.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2206G>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116248	0.94339	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.99245	-5.62;-5.62	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.99743	0.9898	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97152	0.9832	10	0.87932	D	0	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	736;736	F5H7J9;O75581	.;LRP6_HUMAN	W	736	ENSP00000261349:G736W;ENSP00000442472:G736W	ENSP00000261349:G736W	G	-	1	0	LRP6	12206467	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GGG		PASS	0.498	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			31	71	31	71	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13715977	13715977	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:13715977G>T	ENST00000609686.1	-	13	4404	c.4195C>A	c.(4195-4197)Cat>Aat	p.H1399N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1399					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.H1399N(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)	TTGCTGCCATGGAGCAAGCAC	0.627																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4195-4197)CAT>AAT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						44.0	43.0	43.0					12																	13715977		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.chr12:13715977G>T		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.4195C>A	12.37:g.13715977G>T	ENSP00000477455:p.His1399Asn						p.H1399N	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4374	-			1399			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4195C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198710	0.38806	.	.	ENSG00000150086	ENST00000279593	T	0.15139	2.45	5.09	5.09	0.68999	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.105878	0.64402	D	0.000005	T	0.38904	0.1058	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.06006	-1.0851	10	0.54805	T	0.06	.	18.6944	0.91594	0.0:0.0:1.0:0.0	.	1399	Q13224	NMDE2_HUMAN	N	1399	ENSP00000279593:H1399N	ENSP00000279593:H1399N	H	-	1	0	GRIN2B	13607244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.648000	0.89879	0.561000	0.74099	CAT		PASS	0.627	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			12	36	12	36	---	---	---	---
CCDC91	55297	broad.mit.edu	37	12	28458699	28458699	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:28458699C>G	ENST00000545336.1	+	7	646	c.227C>G	c.(226-228)gCa>gGa	p.A76G	CCDC91_ENST00000539107.1_Missense_Mutation_p.A76G|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.A76G|CCDC91_ENST00000306172.5_Missense_Mutation_p.A46G|CCDC91_ENST00000381259.1_Missense_Mutation_p.A76G			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	76					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A76G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATACACATGCAGCAAATAGC	0.383																																						uc001riq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)GCA>GGA		GGA binding partner							181.0	165.0	171.0					12																	28458699		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458699C>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.227C>G	12.37:g.28458699C>G	ENSP00000438040:p.Ala76Gly					CCDC91_uc001rio.2_Missense_Mutation_p.A46G|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.A76G|CCDC91_uc001rir.2_5'UTR|CCDC91_uc009zjl.2_5'Flank	p.A76G	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			3	243	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		76					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.227C>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	9.439	1.087592	0.20390	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.33865	1.4;1.4;1.39;1.4;1.39;1.4;1.39	4.66	1.85	0.25348	.	1.141400	0.06518	N	0.739116	T	0.24314	0.0589	N	0.19112	0.55	0.09310	N	1	B;B	0.25809	0.0;0.135	B;B	0.24269	0.003;0.052	T	0.27571	-1.0070	10	0.41790	T	0.15	-0.6185	6.9186	0.24374	0.0:0.7097:0.0:0.2903	.	76;46	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	G	76;76;76;76;76;76;76;76;46	ENSP00000440513:A76G;ENSP00000445660:A76G;ENSP00000438040:A76G;ENSP00000442544:A76G;ENSP00000370658:A76G;ENSP00000370655:A76G;ENSP00000305075:A46G	ENSP00000305075:A46G	A	+	2	0	CCDC91	28349966	0.004000	0.15560	0.001000	0.08648	0.008000	0.06430	1.539000	0.36104	0.299000	0.22661	-0.216000	0.12614	GCA		PASS	0.383	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		46	96	46	96	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40761490	40761490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:40761490G>T	ENST00000298910.7	+	51	7565	c.7507G>T	c.(7507-7509)Gaa>Taa	p.E2503*		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2503					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E2510*(1)|p.E2503*(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTTCCACATGAAGTGCAAAA	0.313																																						uc001rmg.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(7507-7509)GAA>TAA		leucine-rich repeat kinase 2							58.0	61.0	60.0					12																	40761490		2202	4297	6499	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40761490G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7507G>T	12.37:g.40761490G>T	ENSP00000298910:p.Glu2503*					LRRK2_uc009zjw.2_Nonsense_Mutation_p.E1341*|LRRK2_uc001rmi.2_3'UTR	p.E2503*	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			51	7628	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2503					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.7507G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	48	14.681361	0.99805	.	.	ENSG00000188906	ENST00000298910	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9606	0.92676	0.0:0.0:1.0:0.0	.	.	.	.	X	2503	.	ENSP00000298910:E2503X	E	+	1	0	LRRK2	39047757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.030000	0.76484	2.480000	0.83734	0.561000	0.74099	GAA		PASS	0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	37	13	37	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46244156	46244156	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:46244156G>T	ENST00000334344.6	+	15	2422	c.2250G>T	c.(2248-2250)ggG>ggT	p.G750G	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Silent_p.G601G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G360G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	750					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.G750G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATAGTACAGGGCCACAACCTG	0.463			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2248-2250)GGG>GGT		AT rich interactive domain 2 (ARID, RFX-like)							86.0	80.0	82.0					12																	46244156		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244156G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2250G>T	12.37:g.46244156G>T						ARID2_uc001ror.2_Silent_p.G750G|ARID2_uc009zkg.1_Silent_p.G206G|ARID2_uc009zkh.1_Silent_p.G377G|ARID2_uc001rou.1_Silent_p.G84G	p.G750G	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2250	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	750					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.2250G>T	CCDS31783.1																																																																																				PASS	0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		3	57	3	57	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48393728	48393728	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:48393728C>A	ENST00000380518.3	-	2	430	c.266G>T	c.(265-267)tGc>tTc	p.C89F	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	89	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.C89F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCAGTTGGGCAGATGGGGCA	0.493																																						uc001rqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(265-267)TGC>TTC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						74.0	82.0	79.0					12																	48393728		2067	4210	6277	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48393728C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.266G>T	12.37:g.48393728C>A	ENSP00000369889:p.Cys89Phe					COL2A1_uc001rqv.2_Intron	p.C89F	NM_001844	NP_001835	P02458	CO2A1_HUMAN			2	447	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	89			VWFC.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.266G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586444	0.66105	.	.	ENSG00000139219	ENST00000380518	D	0.92149	-2.98	4.66	4.66	0.58398	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.98818	4.34	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	D	0.99250	1.0887	10	0.87932	D	0	.	16.8676	0.86033	0.0:1.0:0.0:0.0	.	89	P02458	CO2A1_HUMAN	F	89	ENSP00000369889:C89F	ENSP00000369889:C89F	C	-	2	0	COL2A1	46679995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.584000	0.87258	0.563000	0.77884	TGC		PASS	0.493	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		11	36	11	36	---	---	---	---
PRPH	5630	broad.mit.edu	37	12	49691238	49691238	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:49691238G>T	ENST00000257860.4	+	6	2594	c.1095G>T	c.(1093-1095)ctG>ctT	p.L365L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L365L(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGGAGGAGCTGCGACAGCTAA	0.652											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rtu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1093-1095)CTG>CTT		peripherin							17.0	19.0	19.0					12																	49691238		2201	4296	6497	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49691238G>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1095G>T	12.37:g.49691238G>T			OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.L365L	NM_006262	NP_006253	P41219	PERI_HUMAN			6	1170	+			365			Coil 2.|Rod.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.1095G>T	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602638	0.46423	.	.	ENSG00000135406	ENST00000532332	.	.	.	5.48	-0.501	0.12008	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37220	-0.9715	4	.	.	.	.	4.8577	0.13568	0.0708:0.2019:0.4309:0.2964	.	.	.	.	S	94	.	.	A	+	1	0	PRPH	47977505	0.977000	0.34250	0.478000	0.27316	0.976000	0.68499	0.016000	0.13377	-0.020000	0.14032	0.655000	0.94253	GCG		PASS	0.652	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		6	7	6	7	---	---	---	---
DNAJC22	79962	broad.mit.edu	37	12	49743486	49743486	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:49743486G>T	ENST00000549441.2	+	3	2035	c.831G>T	c.(829-831)ctG>ctT	p.L277L	DNAJC22_ENST00000395069.3_Silent_p.L277L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	277	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)		p.L277L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AGCGTCAGCTGGCTTACCAGG	0.537																																						uc001rua.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(829-831)CTG>CTT		DnaJ (Hsp40) homolog, subfamily C, member 22							73.0	77.0	76.0					12																	49743486		2203	4300	6503	SO:0001819	synonymous_variant	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743486G>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.831G>T	12.37:g.49743486G>T						DNAJC22_uc001rub.2_Silent_p.L277L	p.L277L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			2	1232	+			277			J.		B3KP54	Silent	SNP	ENST00000549441.2	37	c.831G>T	CCDS8785.1																																																																																				PASS	0.537	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		8	76	8	76	---	---	---	---
TMPRSS12	283471	broad.mit.edu	37	12	51281183	51281183	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:51281183T>G	ENST00000398458.3	+	5	966	c.934T>G	c.(934-936)Tgg>Ggg	p.W312G	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	312	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.W312G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						CTACCAAAAGTGGCTGACAGA	0.393																																						uc001rwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)TGG>GGG		transmembrane protease, serine 12 precursor							156.0	155.0	155.0					12																	51281183		1896	4111	6007	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51281183T>G	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.934T>G	12.37:g.51281183T>G	ENSP00000381476:p.Trp312Gly					TMPRSS12_uc001rwy.2_3'UTR	p.W312G	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			5	981	+			312			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.934T>G	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959811	0.34565	.	.	ENSG00000186452	ENST00000398458	D	0.92348	-3.02	5.26	4.06	0.47325	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.142642	0.32970	N	0.005423	D	0.96278	0.8786	H	0.98833	4.345	0.37223	D	0.905317	P	0.52463	0.953	P	0.51866	0.682	D	0.97558	1.0096	10	0.66056	D	0.02	-11.8605	9.2535	0.37568	0.0:0.0:0.1809:0.8191	.	312	Q86WS5	TMPSC_HUMAN	G	312	ENSP00000381476:W312G	ENSP00000381476:W312G	W	+	1	0	TMPRSS12	49567450	0.991000	0.36638	0.871000	0.34182	0.133000	0.20885	2.558000	0.45879	1.983000	0.57843	0.377000	0.23210	TGG		PASS	0.393	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		34	50	34	50	---	---	---	---
KRT82	3888	broad.mit.edu	37	12	52788838	52788838	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:52788838C>A	ENST00000257974.2	-	9	1540	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	488	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.G488V(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCTCAGTAGCCCCTGGGGCTC	0.637																																						uc001sai.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1462-1464)GGG>GTG		keratin 82							51.0	51.0	51.0					12																	52788838		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788838C>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1463G>T	12.37:g.52788838C>A	ENSP00000257974:p.Gly488Val						p.G488V	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1578	-			488			Tail.			Missense_Mutation	SNP	ENST00000257974.2	37	c.1463G>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422140	0.11928	.	.	ENSG00000161850	ENST00000257974	D	0.83914	-1.78	4.73	2.83	0.33086	.	0.186795	0.26414	N	0.024513	T	0.60301	0.2258	N	0.08118	0	0.34920	D	0.74837	P	0.39551	0.678	B	0.30572	0.117	T	0.65294	-0.6203	10	0.44086	T	0.13	.	7.6425	0.28303	0.0:0.7442:0.1647:0.0911	.	488	Q9NSB4	KRT82_HUMAN	V	488	ENSP00000257974:G488V	ENSP00000257974:G488V	G	-	2	0	KRT82	51075105	0.013000	0.17824	0.044000	0.18714	0.112000	0.19704	1.737000	0.38197	0.498000	0.27948	0.561000	0.74099	GGG		PASS	0.637	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		17	23	17	23	---	---	---	---
KRT74	121391	broad.mit.edu	37	12	52967271	52967271	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:52967271C>A	ENST00000305620.2	-	1	338	c.291G>T	c.(289-291)gtG>gtT	p.V97V	KRT74_ENST00000549343.1_Silent_p.V97V	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	97	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.V97V(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCCCAGGGCCACACTGCCAA	0.647																																						uc001sap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(289-291)GTG>GTT		keratin 6 irs4							61.0	68.0	66.0					12																	52967271		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52967271C>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.291G>T	12.37:g.52967271C>A							p.V97V	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	339	-			97			Head.|Gly-rich.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.291G>T	CCDS8832.1																																																																																				PASS	0.647	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		12	47	12	47	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53045530	53045530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:53045530C>A	ENST00000309680.3	-	1	418	c.397G>T	c.(397-399)Gga>Tga	p.G133*		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	133	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G133*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTAAacctccaacaccacca	0.612																																						uc001sat.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(397-399)GGA>TGA		keratin 2							57.0	57.0	57.0					12																	53045530		2203	4300	6503	SO:0001587	stop_gained	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045530C>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.397G>T	12.37:g.53045530C>A	ENSP00000310861:p.Gly133*						p.G133*	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	430	-			133			Head.		Q4VAQ2	Nonsense_Mutation	SNP	ENST00000309680.3	37	c.397G>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901701	0.72754	.	.	ENSG00000172867	ENST00000309680	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.2431	0.73485	0.1411:0.8589:0.0:0.0	.	.	.	.	X	133	.	ENSP00000310861:G133X	G	-	1	0	KRT2	51331797	0.003000	0.15002	0.994000	0.49952	0.149000	0.21700	0.712000	0.25779	2.727000	0.93392	0.655000	0.94253	GGA		PASS	0.612	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		5	19	5	19	---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53585733	53585733	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:53585733C>A	ENST00000267082.5	-	15	2457	c.2226G>T	c.(2224-2226)ctG>ctT	p.L742L	ITGB7_ENST00000422257.3_Silent_p.L742L|ITGB7_ENST00000338737.4_Silent_p.L594L|ITGB7_ENST00000550743.2_Silent_p.L594L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	742					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.L742L(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAGGACCAGCCCCAGCC	0.587																																						uc009zmv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						c.(2224-2226)CTG>CTT		integrin, beta 7 precursor							49.0	50.0	50.0					12																	53585733		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53585733C>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2226G>T	12.37:g.53585733C>A						ITGB7_uc001scc.2_Silent_p.L742L|ITGB7_uc010snz.1_RNA	p.L742L	NM_000889	NP_000880	P26010	ITB7_HUMAN			14	2297	-			742			Helical; (Potential).		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.2226G>T	CCDS8849.1																																																																																				PASS	0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			4	24	4	24	---	---	---	---
MIP	4284	broad.mit.edu	37	12	56848109	56848109	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:56848109C>A	ENST00000257979.4	-	1	317	c.289G>T	c.(289-291)Gct>Tct	p.A97S	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	97					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.A97S(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CCAGCCACAGCTCCCAGGAGC	0.587																																						uc001slh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)GCT>TCT		major intrinsic protein of lens fiber							29.0	37.0	35.0					12																	56848109		2202	4298	6500	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848109C>A		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.289G>T	12.37:g.56848109C>A	ENSP00000257979:p.Ala97Ser						p.A97S	NM_012064	NP_036196	P30301	MIP_HUMAN			1	321	-			97			Helical; (By similarity).		Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.289G>T	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822147	0.90873	.	.	ENSG00000135517	ENST00000257979	D	0.96041	-3.89	5.18	5.18	0.71444	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.52011	1.625	0.80722	D	1	P	0.37781	0.608	P	0.59703	0.862	D	0.96755	0.9557	10	0.54805	T	0.06	-10.9102	17.8392	0.88710	0.0:1.0:0.0:0.0	.	97	P30301	MIP_HUMAN	S	97	ENSP00000257979:A97S	ENSP00000257979:A97S	A	-	1	0	MIP	55134376	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.678000	0.61641	2.588000	0.87417	0.561000	0.74099	GCT		PASS	0.587	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		4	53	4	53	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57562984	57562984	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:57562984G>T	ENST00000243077.3	+	20	3523	c.3057G>T	c.(3055-3057)caG>caT	p.Q1019H	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1019	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.Q1019H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTAGCACCCAGTTCAAGTGCA	0.597																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3055-3057)CAG>CAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						79.0	68.0	72.0					12																	57562984		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57562984G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3057G>T	12.37:g.57562984G>T	ENSP00000243077:p.Gln1019His					LRP1_uc009zpi.1_RNA	p.Q1019H	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3523	+			1019			LDL-receptor class A 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3057G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740107	0.69304	.	.	ENSG00000123384	ENST00000243077	D	0.95821	-3.82	4.8	3.91	0.45181	.	0.000000	0.64402	D	0.000002	D	0.97049	0.9036	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.96758	0.9559	10	0.52906	T	0.07	.	12.0625	0.53570	0.0854:0.0:0.9146:0.0	.	1019	Q07954	LRP1_HUMAN	H	1019	ENSP00000243077:Q1019H	ENSP00000243077:Q1019H	Q	+	3	2	LRP1	55849251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	1.259000	0.44117	0.561000	0.74099	CAG		PASS	0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	49	8	49	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58122159	58122159	+	Splice_Site	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:58122159G>T	ENST00000547588.1	-	14	2558	c.2559C>A	c.(2557-2559)gcC>gcA	p.A853A	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	853	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.A853A(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTTTGCGCTTGGCTGGTTTCC	0.458																																						uc001spq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|breast(2)	5						c.(2557-2559)GCC>GCA		centaurin, gamma 1 isoform PIKE-L							37.0	38.0	38.0					12																	58122159		1568	3582	5150	SO:0001630	splice_region_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.chr12:58122159G>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2558-1C>A	12.37:g.58122159G>T						AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.A852A|AGAP2_uc001spr.2_Intron	p.A853A	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			14	2559	-			853			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.2559C>A	CCDS44932.1																																																																																				PASS	0.458	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	Silent	3	14	3	14	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975615	94975615	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:94975615C>A	ENST00000261226.4	-	2	909	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	TMCC3_ENST00000551457.1_Missense_Mutation_p.G229C	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	260						integral component of membrane (GO:0016021)		p.G260C(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTGACGTGCCACTCGAACAT	0.597																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(778-780)GGC>TGC		transmembrane and coiled-coil domain family 3							99.0	90.0	93.0					12																	94975615		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975615C>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.778G>T	12.37:g.94975615C>A	ENSP00000261226:p.Gly260Cys					TMCC3_uc001tdi.2_Missense_Mutation_p.G229C	p.G260C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	896	-			260					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.778G>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193715	0.78902	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	5.92	5.92	0.95590	.	0.134157	0.64402	D	0.000002	T	0.62889	0.2465	L	0.56769	1.78	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.60089	-0.7331	10	0.54805	T	0.06	-51.5706	20.3242	0.98691	0.0:1.0:0.0:0.0	.	260	Q9ULS5	TMCC3_HUMAN	C	260;229	ENSP00000261226:G260C;ENSP00000449888:G229C	ENSP00000261226:G260C	G	-	1	0	TMCC3	93499746	1.000000	0.71417	0.975000	0.42487	0.621000	0.37620	7.346000	0.79347	2.811000	0.96726	0.555000	0.69702	GGC		PASS	0.597	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		14	40	14	40	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100551470	100551470	+	RNA	SNP	T	T	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:100551470T>A	ENST00000397112.4	-	0	1728				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)		p.A42A(1)		large_intestine(1)|lung(3)	4						CACATAGCCGTGCCTGCTCCT	0.597																																						uc001tgs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(124-126)GCA>GCT		golgi autoantigen, golgin subfamily a, 2-like 1							26.0	28.0	27.0					12																	100551470		2203	4300	6503			55592							g.chr12:100551470T>A																													12.37:g.100551470T>A						GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Silent_p.A42A|uc001tgx.2_5'Flank	p.A42A	NM_017600	NP_060070					4	570	-								Q9NSV2	Silent	SNP	ENST00000397112.4	37	c.126A>T																																																																																					PASS	0.597	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			8	23	8	23	---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105150891	105150891	+	Silent	SNP	G	G	T	rs540477534		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:105150891G>T	ENST00000303694.5	+	3	808	c.369G>T	c.(367-369)gtG>gtT	p.V123V	CHST11_ENST00000549260.1_Silent_p.V118V	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	123					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.V123V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ACTGCTACGTGCCCAAGGTGG	0.632																																						uc001tkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)GTG>GTT		carbohydrate sulfotransferase 11							67.0	60.0	62.0					12																	105150891		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150891G>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.369G>T	12.37:g.105150891G>T						CHST11_uc001tky.2_Silent_p.V118V|uc001tkz.2_5'Flank	p.V123V	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	660	+			123			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.369G>T	CCDS9099.1																																																																																				PASS	0.632	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		11	20	11	20	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111336788	111336788	+	Missense_Mutation	SNP	G	G	C	rs116589141	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:111336788G>C	ENST00000308208.5	+	10	1443	c.1201G>C	c.(1201-1203)Ggg>Cgg	p.G401R	CCDC63_ENST00000552694.1_Missense_Mutation_p.G322R|CCDC63_ENST00000545036.1_Missense_Mutation_p.G361R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	401								p.G401R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAGCAAGTACGGGGAGGTCAG	0.512																																						uc001trv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(1201-1203)GGG>CGG		coiled-coil domain containing 63							114.0	106.0	109.0					12																	111336788		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111336788G>C	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1201G>C	12.37:g.111336788G>C	ENSP00000312399:p.Gly401Arg					CCDC63_uc010sye.1_Missense_Mutation_p.G361R|CCDC63_uc001trw.1_Missense_Mutation_p.G316R	p.G401R	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			10	1396	+			401			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1201G>C	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075165	0.01903	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21031	2.03;2.03;2.03	4.49	-8.98	0.00754	.	1.081060	0.07030	N	0.828335	T	0.03871	0.0109	N	0.00197	-1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50440	-0.8828	10	0.33141	T	0.24	.	9.4374	0.38648	0.2777:0.5795:0.1429:0.0	.	401	Q8NA47	CCD63_HUMAN	R	361;401;322	ENSP00000445881:G361R;ENSP00000312399:G401R;ENSP00000450217:G322R	ENSP00000312399:G401R	G	+	1	0	CCDC63	109821171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.049000	0.11924	-1.701000	0.01413	-1.641000	0.00772	GGG		PASS	0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		8	29	8	29	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111342571	111342571	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:111342571C>A	ENST00000308208.5	+	11	1764	c.1522C>A	c.(1522-1524)Ccc>Acc	p.P508T	CCDC63_ENST00000552694.1_Missense_Mutation_p.P429T|CCDC63_ENST00000545036.1_Missense_Mutation_p.P468T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	508								p.P508T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGGGGCTGACCCCTTCAGCGA	0.592																																						uc001trv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(1522-1524)CCC>ACC		coiled-coil domain containing 63							59.0	59.0	59.0					12																	111342571		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111342571C>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1522C>A	12.37:g.111342571C>A	ENSP00000312399:p.Pro508Thr					CCDC63_uc010sye.1_Missense_Mutation_p.P468T|CCDC63_uc001trw.1_Missense_Mutation_p.P423T	p.P508T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			11	1717	+			508					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1522C>A	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	C	5.926	0.354812	0.11239	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.28895	1.59;1.59;1.59	5.16	0.949	0.19566	.	1.076460	0.07017	N	0.826199	T	0.23766	0.0575	L	0.60455	1.87	0.09310	N	1	B	0.20052	0.041	B	0.12156	0.007	T	0.32268	-0.9913	10	0.16420	T	0.52	.	0.726	0.00949	0.2448:0.3886:0.1449:0.2217	.	508	Q8NA47	CCD63_HUMAN	T	468;508;429	ENSP00000445881:P468T;ENSP00000312399:P508T;ENSP00000450217:P429T	ENSP00000312399:P508T	P	+	1	0	CCDC63	109826954	0.000000	0.05858	0.105000	0.21289	0.310000	0.27922	-0.399000	0.07250	0.238000	0.21222	-0.266000	0.10368	CCC		PASS	0.592	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		21	45	21	45	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115114251	115114251	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:115114251C>A	ENST00000257566.3	-	6	1355	c.966G>T	c.(964-966)atG>atT	p.M322I	TBX3_ENST00000349155.2_Missense_Mutation_p.M302I	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	322					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M322I(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAAACACCCTCATGGACTGCA	0.483																																						uc001tvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(964-966)ATG>ATT		T-box 3 protein isoform 2							128.0	117.0	121.0					12																	115114251		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114251C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.966G>T	12.37:g.115114251C>A	ENSP00000257566:p.Met322Ile					TBX3_uc001tvu.1_Missense_Mutation_p.M302I	p.M322I	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	1930	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		322					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.966G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282888	0.80692	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87412	-2.25;-2.25	5.11	5.11	0.69529	.	0.197440	0.27460	U	0.019275	D	0.86121	0.5857	L	0.46157	1.445	0.80722	D	1	P;B	0.40909	0.732;0.007	P;B	0.44696	0.458;0.009	D	0.83907	0.0293	10	0.23891	T	0.37	.	17.516	0.87773	0.0:1.0:0.0:0.0	.	302;322	O15119-2;O15119	.;TBX3_HUMAN	I	302;322;322	ENSP00000257567:M302I;ENSP00000257566:M322I	ENSP00000257566:M322I	M	-	3	0	TBX3	113598634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.427000	0.59888	2.363000	0.80096	0.655000	0.94253	ATG		PASS	0.483	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		23	58	23	58	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A	rs548971268		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:118199236G>A	ENST00000339824.5	-	4	1293	c.566C>T	c.(565-567)cCg>cTg	p.P189L	KSR2_ENST00000425217.1_Missense_Mutation_p.P160L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P221L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		13475	0.001		0.0	False		,,,				2504	0.0					uc001two.2																			2	Substitution - Missense(2)	p.C160C(1)	lung(1)|endometrium(1)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(478-480)CCG>CTG		kinase suppressor of ras 2							44.0	46.0	45.0					12																	118199236		1917	4119	6036	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199236G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.566C>T	12.37:g.118199236G>A	ENSP00000339952:p.Pro189Leu						p.P160L	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	534	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		189			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.479C>T		.	.	.	.	.	.	.	.	.	.	G	14.17	2.455543	0.43634	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78481	-1.14;-1.18	4.63	4.63	0.57726	.	0.272326	0.37178	N	0.002206	T	0.69106	0.3074	L	0.39898	1.24	0.45777	D	0.998664	B	0.06786	0.001	B	0.01281	0.0	T	0.68326	-0.5438	10	0.72032	D	0.01	.	11.4279	0.50022	0.0:0.0:0.6965:0.3035	.	189	Q6VAB6	KSR2_HUMAN	L	160;189	ENSP00000389715:P160L;ENSP00000339952:P189L	ENSP00000339952:P189L	P	-	2	0	KSR2	116683619	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	3.018000	0.49625	2.385000	0.81259	0.491000	0.48974	CCG		PASS	0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		12	33	12	33	---	---	---	---
SIRT4	23409	broad.mit.edu	37	12	120741815	120741815	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:120741815A>G	ENST00000202967.4	+	2	510	c.451A>G	c.(451-453)Aag>Gag	p.K151E	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4									p.K151E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGCACACCAAGGCGGGGAG	0.567																																						uc001tyc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)AAG>GAG		sirtuin 4							62.0	54.0	56.0					12																	120741815		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741815A>G	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.451A>G	12.37:g.120741815A>G	ENSP00000202967:p.Lys151Glu						p.K151E	NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN			2	471	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		151			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.451A>G	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149054	0.78001	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.19394	2.15;2.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.69463	2.115	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.37731	-0.9693	10	0.87932	D	0	-33.4966	15.7829	0.78275	1.0:0.0:0.0:0.0	.	151	Q9Y6E7	SIRT4_HUMAN	E	92;151	ENSP00000444838:K92E;ENSP00000202967:K151E	ENSP00000202967:K151E	K	+	1	0	SIRT4	119226198	1.000000	0.71417	0.999000	0.59377	0.474000	0.32979	9.030000	0.93725	2.191000	0.70037	0.528000	0.53228	AAG		PASS	0.567	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		9	27	9	27	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126138253	126138253	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:126138253G>T	ENST00000299308.3	+	9	2242	c.2234G>T	c.(2233-2235)tGg>tTg	p.W745L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W257L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	745						integral component of membrane (GO:0016021)		p.W745L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGTCCAAATGGCCAATTGTG	0.423																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2233-2235)TGG>TTG		transmembrane protein 132B							140.0	136.0	137.0					12																	126138253		1929	4136	6065	SO:0001583	missense	114795					integral to membrane		g.chr12:126138253G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2234G>T	12.37:g.126138253G>T	ENSP00000299308:p.Trp745Leu					TMEM132B_uc001uhf.1_Missense_Mutation_p.W257L	p.W745L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2242	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		745			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2234G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603699	0.66445	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13307	2.6;2.6	5.81	4.92	0.64577	.	0.000000	0.64402	D	0.000006	T	0.20455	0.0492	L	0.33668	1.02	0.80722	D	1	D	0.55800	0.973	P	0.56612	0.802	T	0.03684	-1.1013	10	0.13108	T	0.6	.	16.9029	0.86117	0.0:0.1282:0.8718:0.0	.	745	Q14DG7	T132B_HUMAN	L	745;257	ENSP00000299308:W745L;ENSP00000440436:W257L	ENSP00000299308:W745L	W	+	2	0	TMEM132B	124704206	1.000000	0.71417	0.987000	0.45799	0.783000	0.44284	7.040000	0.76551	1.438000	0.47492	-0.175000	0.13238	TGG		PASS	0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		19	53	19	53	---	---	---	---
DDX51	317781	broad.mit.edu	37	12	132625014	132625014	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr12:132625014G>T	ENST00000397333.3	-	11	1665	c.1627C>A	c.(1627-1629)Cag>Aag	p.Q543K		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	543	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.Q543K(1)		endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ATCCTCCTCTGGCCAGGCCCG	0.622																																						uc001ujy.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1627-1629)CAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							79.0	90.0	86.0					12																	132625014		2093	4213	6306	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625014G>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1627C>A	12.37:g.132625014G>T	ENSP00000380495:p.Gln543Lys						p.Q543K	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	11	1666	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	543			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1627C>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	G	6.333	0.429460	0.11987	.	.	ENSG00000185163	ENST00000397333	T	0.75154	-0.91	5.09	3.24	0.37175	Helicase, C-terminal (3);	0.208150	0.40728	N	0.001037	T	0.52821	0.1758	N	0.20807	0.61	0.33945	D	0.643728	B	0.28128	0.201	B	0.32149	0.141	T	0.53208	-0.8471	10	0.02654	T	1	-5.6862	7.3771	0.26835	0.0887:0.3249:0.5864:0.0	.	543	Q8N8A6	DDX51_HUMAN	K	543	ENSP00000380495:Q543K	ENSP00000380495:Q543K	Q	-	1	0	DDX51	131190967	1.000000	0.71417	0.959000	0.39883	0.034000	0.12701	4.028000	0.57246	0.538000	0.28769	-0.300000	0.09419	CAG		PASS	0.622	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		16	39	16	39	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32930590	32930590	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr13:32930590C>A	ENST00000380152.3	+	15	7694	c.7461C>A	c.(7459-7461)gcC>gcA	p.A2487A	BRCA2_ENST00000544455.1_Silent_p.A2487A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2487	Interaction with FANCD2.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.A2487A(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCAGAATGCCAGAGATATAC	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - coding silent(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7459-7461)GCC>GCA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							116.0	120.0	119.0					13																	32930590		2203	4300	6503	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32930590C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7461C>A	13.37:g.32930590C>A		TCGA Ovarian(8;0.087)					p.A2487A	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	15	7688	+		Lung SC(185;0.0262)	2487			Interaction with FANCD2.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.7461C>A	CCDS9344.1																																																																																				PASS	0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	68	26	68	---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49085987	49085987	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr13:49085987G>A	ENST00000344532.3	-	9	1125	c.702C>T	c.(700-702)aaC>aaT	p.N234N	RCBTB2_ENST00000430805.2_Silent_p.N239N|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544492.1_Missense_Mutation_p.T8M|RCBTB2_ENST00000544904.1_Silent_p.N210N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	234					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.N234N(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAAGCTGCCCGTTTCCGTTGT	0.532																																						uc001vch.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(700-702)AAC>AAT		regulator of chromosome condensation and BTB							89.0	81.0	84.0					13																	49085987		2203	4300	6503	SO:0001819	synonymous_variant	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49085987G>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.702C>T	13.37:g.49085987G>A						RCBTB2_uc010tgg.1_Silent_p.N239N|RCBTB2_uc001vci.2_Silent_p.N210N|RCBTB2_uc010tgh.1_Missense_Mutation_p.T8M|RCBTB2_uc001vcj.2_Silent_p.N238N|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Silent_p.N210N	p.N234N	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	9	1073	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	234			RCC1 4.		B2RDW8	Silent	SNP	ENST00000344532.3	37	c.702C>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048217	0.55110	.	.	ENSG00000136161	ENST00000544492	T	0.76316	-1.01	5.98	-6.95	0.01628	.	.	.	.	.	T	0.70159	0.3192	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49303	-0.8954	8	0.72032	D	0.01	.	19.1495	0.93482	0.3836:0.0:0.6164:0.0	.	8	B4E372	.	M	8	ENSP00000443862:T8M	ENSP00000443862:T8M	T	-	2	0	RCBTB2	47983988	0.049000	0.20398	0.919000	0.36401	0.911000	0.54048	-0.362000	0.07602	-0.980000	0.03524	-0.469000	0.05056	ACG		PASS	0.532	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		3	28	3	28	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53422390	53422390	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr13:53422390G>T	ENST00000377942.3	-	1	385	c.182C>A	c.(181-183)aCa>aAa	p.T61K	PCDH8_ENST00000338862.4_Missense_Mutation_p.T61K	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.T61K(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)		GCGGAAGCTTGTGTCACCCGA	0.637																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(181-183)ACA>AAA		protocadherin 8 isoform 1 precursor							99.0	96.0	97.0					13																	53422390		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.chr13:53422390G>T	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.182C>A	13.37:g.53422390G>T	ENSP00000367177:p.Thr61Lys					PCDH8_uc001vhj.2_Missense_Mutation_p.T61K	p.T61K	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	385	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	61			Extracellular (Potential).|Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.182C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865970	0.32977	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25414	1.8;1.8	5.23	3.2	0.36748	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.346165	0.21473	N	0.073977	T	0.15435	0.0372	N	0.25380	0.74	0.28911	N	0.892717	B;B	0.27765	0.156;0.188	B;B	0.34590	0.075;0.186	T	0.07462	-1.0771	10	0.35671	T	0.21	.	1.4109	0.02291	0.1419:0.2156:0.4194:0.2232	.	61;61	O95206-2;O95206	.;PCDH8_HUMAN	K	61	ENSP00000367177:T61K;ENSP00000341350:T61K	ENSP00000341350:T61K	T	-	2	0	PCDH8	52320391	0.991000	0.36638	1.000000	0.80357	0.975000	0.68041	1.469000	0.35343	2.453000	0.82957	0.561000	0.74099	ACA		PASS	0.637	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		33	38	33	38	---	---	---	---
KLHDC2	23588	broad.mit.edu	37	14	50246968	50246968	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:50246968C>A	ENST00000298307.5	+	9	1672	c.811C>A	c.(811-813)Cac>Aac	p.H271N	KLHDC2_ENST00000554589.1_Missense_Mutation_p.H271N|KLHDC2_ENST00000557247.1_Missense_Mutation_p.H271N	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	271						nucleus (GO:0005634)		p.H271N(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TCGATCTTGGCACTCACTAAC	0.348																																						uc001wwx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)CAC>AAC		kelch domain containing 2							148.0	150.0	149.0					14																	50246968		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50246968C>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.811C>A	14.37:g.50246968C>A	ENSP00000298307:p.His271Asn					SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.H271N|KLHDC2_uc010anp.2_Missense_Mutation_p.H271N	p.H271N	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			9	1211	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		271			Kelch 4.		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.811C>A	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981317	0.93044	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.73363	-0.74;-0.74;-0.46	6.02	6.02	0.97574	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.88566	0.6471	M	0.86268	2.805	0.80722	D	1	D;D;D	0.64830	0.994;0.989;0.991	D;D;D	0.76575	0.945;0.979;0.988	D	0.88615	0.3159	10	0.66056	D	0.02	-14.1948	20.5407	0.99260	0.0:1.0:0.0:0.0	.	271;271;271	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	N	271	ENSP00000298307:H271N;ENSP00000451439:H271N;ENSP00000450658:H271N	ENSP00000298307:H271N	H	+	1	0	KLHDC2	49316718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.217000	0.77982	2.865000	0.98341	0.655000	0.94253	CAC		PASS	0.348	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			23	96	23	96	---	---	---	---
ATP5S	27109	broad.mit.edu	37	14	50789330	50789330	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:50789330G>T	ENST00000311459.7	+	3	634	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000245448.6_Missense_Mutation_p.W85L|ATP5S_ENST00000358473.1_Missense_Mutation_p.W57L|ATP5S_ENST00000426751.2_Missense_Mutation_p.W85L	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	85					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.W57L(2)|p.W85L(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CAGGAGAGGTGGCAGAAGGAC	0.557																																						uc001wxw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(253-255)TGG>TTG		ATP synthase, H+ transporting, mitochondrial F0							97.0	84.0	88.0					14																	50789330		2203	4300	6503	SO:0001583	missense	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50789330G>T	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.254G>T	14.37:g.50789330G>T	ENSP00000308334:p.Trp85Leu					ATP5S_uc001wxv.2_Missense_Mutation_p.W85L|ATP5S_uc001wxx.1_Missense_Mutation_p.W85L|ATP5S_uc010ant.1_Missense_Mutation_p.W57L	p.W85L	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	3	946	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		85					A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	c.254G>T	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540616	0.85917	.	.	ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000245448;ENST00000426751;ENST00000311459;ENST00000358473;ENST00000553905	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.76	5.76	0.90799	.	0.110747	0.64402	D	0.000003	D	0.87454	0.6181	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.64830	0.959;0.99;0.994;0.99	P;P;D;P	0.65874	0.531;0.853;0.939;0.853	D	0.84716	0.0737	10	0.31617	T	0.26	-18.5194	20.017	0.97481	0.0:0.0:1.0:0.0	.	57;85;85;85	Q8WXQ4;Q99766-3;Q99766;Q99766-2	.;.;ATP5S_HUMAN;.	L	85;85;85;57;57	ENSP00000245448:W85L;ENSP00000389246:W85L;ENSP00000308334:W85L;ENSP00000351258:W57L	ENSP00000245448:W85L	W	+	2	0	RP11-247L20.2;ATP5S	49859080	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.870000	0.87175	2.723000	0.93209	0.585000	0.79938	TGG		PASS	0.557	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		24	45	24	45	---	---	---	---
SIX4	51804	broad.mit.edu	37	14	61190688	61190688	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:61190688C>A	ENST00000216513.4	-	1	164	c.105G>T	c.(103-105)gtG>gtT	p.V35V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	35					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V35V(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CGCCCCCCGCCACTTCTCGGT	0.716																																						uc001xfc.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(103-105)GTG>GTT		sine oculis homeobox homolog 4							39.0	44.0	42.0					14																	61190688		2053	4166	6219	SO:0001819	synonymous_variant	51804					nucleus		g.chr14:61190688C>A	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.105G>T	14.37:g.61190688C>A						SIX4_uc010app.1_Silent_p.V27V	p.V35V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	105	-			35					Q4QQH5|Q4V764	Silent	SNP	ENST00000216513.4	37	c.105G>T	CCDS9749.2																																																																																				PASS	0.716	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			9	35	9	35	---	---	---	---
TMEM30B	161291	broad.mit.edu	37	14	61747089	61747089	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:61747089C>A	ENST00000555868.1	-	1	1469	c.777G>T	c.(775-777)ctG>ctT	p.L259L	TMEM30B_ENST00000355702.2_Silent_p.L259L|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	259					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L259L(1)		breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GGAACGTGGGCAGCGCCGCCG	0.672																																						uc001xfl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)CTG>CTT		transmembrane protein 30B							39.0	44.0	42.0					14																	61747089		2202	4298	6500	SO:0001819	synonymous_variant	161291					integral to membrane		g.chr14:61747089C>A	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.777G>T	14.37:g.61747089C>A						PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	p.L259L	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	1	1442	-			259					B3KR84|Q14D00	Silent	SNP	ENST00000555868.1	37	c.777G>T	CCDS32093.1																																																																																				PASS	0.672	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		6	25	6	25	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71199923	71199923	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:71199923G>T	ENST00000554752.2	-	11	2162	c.2163C>A	c.(2161-2163)ccC>ccA	p.P721P	MAP3K9_ENST00000554146.1_Silent_p.P449P|MAP3K9_ENST00000553414.1_Silent_p.P454P|MAP3K9_ENST00000555993.2_Silent_p.P735P|MAP3K9_ENST00000381250.4_Silent_p.P698P	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	721					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P735P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACTGGGGTGGGCTCCTCAT	0.642																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2161-2163)CCC>CCA		mitogen-activated protein kinase kinase kinase							62.0	65.0	64.0					14																	71199923		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199923G>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2163C>A	14.37:g.71199923G>T						MAP3K9_uc010ttk.1_Silent_p.P449P|MAP3K9_uc001xmk.2_Silent_p.P454P|MAP3K9_uc001xml.2_Silent_p.P735P	p.P721P	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2163	-			721					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.2163C>A																																																																																					PASS	0.642	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			16	44	16	44	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73718255	73718255	+	Silent	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:73718255T>C	ENST00000554301.1	+	7	814	c.651T>C	c.(649-651)gcT>gcC	p.A217A	PAPLN_ENST00000340738.5_Intron|PAPLN_ENST00000381166.3_Silent_p.A217A|PAPLN_ENST00000555445.1_Silent_p.A217A|PAPLN_ENST00000427855.1_Silent_p.A217A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	217						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACGAGGCTGCTGCCAGCAGGA	0.632																																						uc010ttx.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(649-651)GCT>GCC		papilin							63.0	64.0	64.0					14																	73718255		876	1991	2867	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73718255T>C	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.651T>C	14.37:g.73718255T>C						PAPLN_uc001xnw.3_Intron|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_Intron|PAPLN_uc010tty.1_Silent_p.A217A	p.A217A	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	7	814	+			217					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.651T>C																																																																																					PASS	0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		21	32	21	32	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73727902	73727902	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:73727902G>T	ENST00000554301.1	+	17	2308	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	PAPLN_ENST00000340738.5_Missense_Mutation_p.E688D|PAPLN_ENST00000381166.3_Missense_Mutation_p.E715D|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000555445.1_Missense_Mutation_p.E715D|PAPLN_ENST00000427855.1_Missense_Mutation_p.E715D			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	715						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.E688D(1)|p.E715D(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCAGAATGAGCCCAGTGAGT	0.627																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2143-2145)GAG>GAT		papilin							59.0	62.0	61.0					14																	73727902		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73727902G>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2145G>T	14.37:g.73727902G>T	ENSP00000451803:p.Glu715Asp					PAPLN_uc001xnw.3_Missense_Mutation_p.E688D|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.E715D|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'Flank	p.E715D	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	17	2308	+			715					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2145G>T		.	.	.	.	.	.	.	.	.	.	G	10.79	1.450350	0.26074	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64260	-0.09;-0.09;0.22;-0.09;0.07	4.88	2.96	0.34315	.	.	.	.	.	T	0.47248	0.1435	L	0.58583	1.82	0.09310	N	0.999997	P;P;P	0.43352	0.804;0.704;0.481	B;B;B	0.36666	0.23;0.116;0.167	T	0.40156	-0.9578	9	0.19147	T	0.46	.	2.0016	0.03468	0.1485:0.3041:0.3829:0.1645	.	715;715;688	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	D	688;715;715;715;715	ENSP00000345395:E688D;ENSP00000403403:E715D;ENSP00000370558:E715D;ENSP00000451803:E715D;ENSP00000451729:E715D	ENSP00000216658:E715D	E	+	3	2	PAPLN	72797655	0.491000	0.26019	0.986000	0.45419	0.948000	0.59901	0.261000	0.18442	2.519000	0.84933	0.561000	0.74099	GAG		PASS	0.627	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		13	40	13	40	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93686640	93686640	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:93686640G>T	ENST00000013070.6	+	9	1242	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y	UBR7_ENST00000416753.1_Missense_Mutation_p.D260Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	336							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D336Y(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AGATGAATACGACACAGTTCT	0.403																																						uc001ybm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)GAC>TAC		ubiquitin protein ligase E3 component n-recognin							120.0	121.0	121.0					14																	93686640		2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93686640G>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1006G>T	14.37:g.93686640G>T	ENSP00000013070:p.Asp336Tyr					UBR7_uc001ybn.3_Missense_Mutation_p.D260Y|UBR7_uc010auq.2_Missense_Mutation_p.D185Y	p.D336Y	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			9	1242	+			336					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.1006G>T	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.648198|4.648198	0.87958|0.87958	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753|ENST00000555329	D;D|.	0.82984|.	-1.6;-1.67|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85835|0.85835	0.5789|0.5789	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.87383|0.87383	0.2358|0.2358	10|5	0.87932|.	D|.	0|.	-7.4508|-7.4508	20.0544|20.0544	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	260;336|.	E9PCJ7;Q8N806|.	.;UBR7_HUMAN|.	Y|L	336;260;260|34	ENSP00000013070:D336Y;ENSP00000391706:D260Y|.	ENSP00000013070:D336Y|.	D|R	+|+	1|2	0|0	UBR7|UBR7	92756393|92756393	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.995000|0.995000	0.86356|0.86356	8.709000|8.709000	0.91379|0.91379	2.746000|2.746000	0.94184|0.94184	0.591000|0.591000	0.81541|0.81541	GAC|CGA		PASS	0.403	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		32	58	32	58	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102484926	102484926	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:102484926C>A	ENST00000360184.4	+	41	8480	c.8316C>A	c.(8314-8316)gcC>gcA	p.A2772A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2772	AAA 3. {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.A2772A(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						TCACTGCTGCCATGGTGGAGT	0.547																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(8314-8316)GCC>GCA		cytoplasmic dynein 1 heavy chain 1							79.0	64.0	69.0					14																	102484926		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102484926C>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.8316C>A	14.37:g.102484926C>A						DYNC1H1_uc001ykt.1_Silent_p.A263A	p.A2772A	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			41	8480	+			2772			AAA 3 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.8316C>A	CCDS9966.1																																																																																				PASS	0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	27	4	27	---	---	---	---
WDR20	91833	broad.mit.edu	37	14	102606387	102606387	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:102606387C>A	ENST00000342702.3	+	1	158	c.127C>A	c.(127-129)Cag>Aag	p.Q43K	WDR20_ENST00000335263.5_Missense_Mutation_p.Q43K|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000558567.1_Missense_Mutation_p.Q43K|WDR20_ENST00000454394.2_Missense_Mutation_p.Q43K|HSP90AA1_ENST00000334701.7_5'Flank|WDR20_ENST00000556511.2_Missense_Mutation_p.Q43K|HSP90AA1_ENST00000558600.1_5'Flank|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000322340.5_Missense_Mutation_p.Q43K|WDR20_ENST00000556807.1_Missense_Mutation_p.Q43K|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000299135.6_Missense_Mutation_p.Q43K	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	43								p.Q43K(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTTCAACTCGCAGGGATCCAA	0.592																																						uc001ykz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CAG>AAG		WD repeat domain 20 isoform 2							80.0	79.0	80.0					14																	102606387		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102606387C>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.127C>A	14.37:g.102606387C>A	ENSP00000341037:p.Gln43Lys					WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Missense_Mutation_p.Q43K|WDR20_uc010txu.1_Missense_Mutation_p.Q43K|WDR20_uc001ylc.2_Missense_Mutation_p.Q43K|WDR20_uc001yld.2_Missense_Mutation_p.Q43K|WDR20_uc001yle.2_Missense_Mutation_p.Q43K|WDR20_uc001ylf.2_Missense_Mutation_p.Q43K|HSP90AA1_uc001ykv.3_5'Flank	p.Q43K	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			1	176	+			43					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.127C>A	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849349|4.849349	0.91277|0.91277	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000322340;ENST00000299135;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892	.|T;T;T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58;1.58;1.58	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.132928	.|0.56097	.|D	.|0.000040	T|T	0.30230|0.30230	0.0758|0.0758	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.20780	.|0.001;0.005;0.001;0.001;0.048;0.0;0.0	.|B;B;B;B;B;B;B	.|0.16722	.|0.001;0.008;0.003;0.004;0.016;0.002;0.001	T|T	0.25641|0.25641	-1.0126|-1.0126	5|10	.|0.02654	.|T	.|1	.|.	17.8529|17.8529	0.88752|0.88752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|43;43;43;43;43;43;43	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;Q8NCN7;F8W9S4;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	E|K	34|43;43;43;43;43;43;34	.|ENSP00000335434:Q43K;ENSP00000314209:Q43K;ENSP00000299135:Q43K;ENSP00000341037:Q43K;ENSP00000450636:Q43K;ENSP00000406084:Q43K	.|ENSP00000299135:Q43K	A|Q	+|+	2|1	0|0	WDR20|WDR20	101676140|101676140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.080000|7.080000	0.76837|0.76837	2.495000|2.495000	0.84180|0.84180	0.557000|0.557000	0.71058|0.71058	GCA|CAG		PASS	0.592	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		18	44	18	44	---	---	---	---
WDR20	91833	broad.mit.edu	37	14	102675626	102675626	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:102675626C>A	ENST00000342702.3	+	3	1150	c.1119C>A	c.(1117-1119)ggC>ggA	p.G373G	WDR20_ENST00000335263.5_Silent_p.G373G|WDR20_ENST00000499851.2_Silent_p.G116G|WDR20_ENST00000545563.1_Silent_p.G200G|WDR20_ENST00000454394.2_Silent_p.G404G|WDR20_ENST00000556511.2_Silent_p.G312G|WDR20_ENST00000424963.2_Silent_p.G249G|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Silent_p.G312G|WDR20_ENST00000299135.6_3'UTR	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	373								p.G373G(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTTCCGTGGGCCAGGACACAC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ykz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1117-1119)GGC>GGA		WD repeat domain 20 isoform 2							93.0	82.0	86.0					14																	102675626		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102675626C>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1119C>A	14.37:g.102675626C>A			OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1368	WDR20_uc001yky.1_Silent_p.G116G|WDR20_uc001yla.2_Silent_p.G249G|WDR20_uc001ylb.2_Silent_p.G312G|WDR20_uc010txu.1_Silent_p.G404G|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.G373G|WDR20_uc001yle.2_Silent_p.G312G|WDR20_uc001ylf.2_Silent_p.G385G	p.G373G	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			3	1168	+			373			WD 4.		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.1119C>A	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	C	3.575	-0.086862	0.07097	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.56	3.68	0.42216	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58429	-0.7638	4	.	.	.	.	10.6825	0.45823	0.1318:0.7996:0.0:0.0687	.	.	.	.	T	304	.	.	P	+	1	0	WDR20	101745379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.036000	0.30228	1.380000	0.46344	0.655000	0.94253	CCA		PASS	0.507	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		17	34	17	34	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103805111	103805111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:103805111G>T	ENST00000216554.3	+	8	1301	c.625G>T	c.(625-627)Gag>Tag	p.E209*	EIF5_ENST00000392715.2_Nonsense_Mutation_p.E209*|EIF5_ENST00000558506.1_Nonsense_Mutation_p.E209*|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	209					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E209*(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGATACAACTGAGGAAGCTCA	0.408																																						uc001ymq.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(625-627)GAG>TAG		eukaryotic translation initiation factor 5							132.0	120.0	124.0					14																	103805111		2203	4300	6503	SO:0001587	stop_gained	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103805111G>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.625G>T	14.37:g.103805111G>T	ENSP00000216554:p.Glu209*					EIF5_uc001ymr.2_Nonsense_Mutation_p.E209*|EIF5_uc001yms.2_Nonsense_Mutation_p.E209*|EIF5_uc001ymt.2_Nonsense_Mutation_p.E209*|EIF5_uc001ymu.2_Nonsense_Mutation_p.E209*	p.E209*	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		8	1147	+		Melanoma(154;0.155)	209					Q53XB3|Q9H5N2|Q9UG48	Nonsense_Mutation	SNP	ENST00000216554.3	37	c.625G>T	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	44	10.706057	0.99453	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.47	4.58	0.56647	.	0.045312	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.0757	14.6677	0.68921	0.0701:0.0:0.9299:0.0	.	.	.	.	X	209	.	ENSP00000216554:E209X	E	+	1	0	EIF5	102874864	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	1.441000	0.47550	0.557000	0.71058	GAG		PASS	0.408	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		22	40	22	40	---	---	---	---
IGHV3-38	28429	broad.mit.edu	37	14	106866535	106866535	+	RNA	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr14:106866535A>G	ENST00000390618.2	-	0	296									immunoglobulin heavy variable 3-38 (non-functional)																		AGTATGTGCTACCACCACTAA	0.532																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							219.0	165.0	183.0					14																	106866535		2202	4297	6499			8755							g.chr14:106866535A>G	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866535A>G														281		-									RNA	SNP	ENST00000390618.2	37	c.11696T>C																																																																																					PASS	0.532	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		33	86	33	86	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40094103	40094103	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:40094103G>T	ENST00000561100.1	-	3	1643	c.778C>A	c.(778-780)Cgg>Agg	p.R260R	GPR176_ENST00000543580.1_Silent_p.R215R|GPR176_ENST00000560729.1_5'UTR|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Silent_p.R259R	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	260					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R260R(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCGGCCTCCCGCTGGGAGGCA	0.592											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zkj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(778-780)CGG>AGG		G protein-coupled receptor 176							76.0	78.0	77.0					15																	40094103		2203	4300	6503	SO:0001819	synonymous_variant	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40094103G>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.778C>A	15.37:g.40094103G>T			OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_uc010uck.1_Silent_p.R200R	p.R260R	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	1644	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	260			Cytoplasmic (Potential).		Q6NXF6	Silent	SNP	ENST00000561100.1	37	c.778C>A	CCDS10051.1																																																																																				PASS	0.592	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		15	36	15	36	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40509756	40509756	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:40509756C>A	ENST00000287598.6	+	21	2933	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	PAK6_ENST00000441369.1_5'UTR|RP11-133K1.2_ENST00000558658.1_5'Flank|PAK6_ENST00000453867.1_5'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.S927Y	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	913	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S913Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGGACTTTTCCTACAGTGTT	0.433			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(2737-2739)TCC>TAC		budding uninhibited by benzimidazoles 1 beta							208.0	202.0	204.0					15																	40509756		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40509756C>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2738C>A	15.37:g.40509756C>A	ENSP00000287598:p.Ser913Tyr					PAK6_uc010bbl.2_5'UTR|PAK6_uc010bbm.2_5'UTR	p.S913Y	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	21	2950	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	913			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2738C>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877005	0.72180	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.65364	-0.15;-0.15	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79284	-0.1867	10	0.87932	D	0	-9.8383	18.0078	0.89214	0.0:1.0:0.0:0.0	.	913	O60566	BUB1B_HUMAN	Y	913;927;796	ENSP00000287598:S913Y;ENSP00000398470:S927Y	ENSP00000287598:S913Y	S	+	2	0	BUB1B	38297048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.634000	0.61325	2.665000	0.90641	0.655000	0.94253	TCC		PASS	0.433	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			5	258	5	258	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42621565	42621565	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:42621565C>A	ENST00000318010.8	+	14	1802	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	521					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.P521Q(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TTTAGAGGGCCAGAGCAAACC	0.438																																						uc001zpi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1561-1563)CCA>CAA		glucosidase, alpha; neutral C							127.0	108.0	115.0					15																	42621565		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42621565C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1562C>A	15.37:g.42621565C>A	ENSP00000326227:p.Pro521Gln						p.P521Q	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	14	1876	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	521					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1562C>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018896	0.93404	.	.	ENSG00000214013	ENST00000318010	D	0.91068	-2.78	5.26	5.26	0.73747	Glycoside hydrolase, superfamily (1);	0.053414	0.85682	D	0.000000	D	0.95319	0.8481	M	0.83384	2.64	0.80722	D	1	D	0.55385	0.971	P	0.62435	0.902	D	0.95795	0.8828	10	0.87932	D	0	-10.8659	18.8827	0.92362	0.0:1.0:0.0:0.0	.	521	Q8TET4	GANC_HUMAN	Q	521	ENSP00000326227:P521Q	ENSP00000326227:P521Q	P	+	2	0	GANC	40408857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.072000	0.71238	2.477000	0.83638	0.655000	0.94253	CCA		PASS	0.438	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		43	71	43	71	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43527059	43527059	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:43527059G>A	ENST00000220420.5	-	11	1790	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	TGM5_ENST00000349114.4_Missense_Mutation_p.R513C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	595					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R595C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCACTGATGCGGATCAGCTTG	0.463																																						uc001zrd.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1783-1785)CGC>TGC		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						154.0	142.0	146.0					15																	43527059		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527059G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1783C>T	15.37:g.43527059G>A	ENSP00000220420:p.Arg595Cys					TGM5_uc001zrc.1_Missense_Mutation_p.R252C|TGM5_uc001zre.1_Missense_Mutation_p.R513C	p.R595C	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	11	1791	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	595					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1783C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091718	0.76756	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.69926	-0.44;-0.44	4.78	4.78	0.61160	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.127530	0.53938	D	0.000053	T	0.80380	0.4612	M	0.74647	2.275	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.82345	-0.0503	10	0.72032	D	0.01	-22.1946	13.1684	0.59583	0.0:0.0:1.0:0.0	.	513;595	O43548-2;O43548	.;TGM5_HUMAN	C	595;513;594	ENSP00000220420:R595C;ENSP00000220419:R513C	ENSP00000220420:R595C	R	-	1	0	TGM5	41314351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.207000	0.51106	2.485000	0.83878	0.655000	0.94253	CGC		PASS	0.463	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		17	59	17	59	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43690301	43690301	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:43690301G>T	ENST00000260383.7	+	13	1599	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.G313C|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.G448C			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	449					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.G448R(1)|p.G448C(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCCTGCATCTGGCTGGGCAGC	0.473																																						uc001zro.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(1345-1347)GGC>TGC		tubulin, gamma complex associated protein 4							149.0	145.0	147.0					15																	43690301		1819	4082	5901	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43690301G>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1345G>T	15.37:g.43690301G>T	ENSP00000260383:p.Gly449Cys					TUBGCP4_uc001zrn.2_Missense_Mutation_p.G448C|TUBGCP4_uc010bdh.2_RNA	p.G449C	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	13	1585	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	449					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1345G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.375709	0.95923	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T	0.09538	2.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	M	0.77486	2.375	0.80722	D	1	P;P	0.51933	0.949;0.937	P;P	0.58331	0.837;0.805	T	0.01249	-1.1406	10	0.87932	D	0	-15.7208	19.3504	0.94381	0.0:0.0:1.0:0.0	.	449;448	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	C	448;313	ENSP00000382387:G313C	ENSP00000260383:G448C	G	+	1	0	TUBGCP4	41477593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.785000	0.99042	2.885000	0.99019	0.655000	0.94253	GGC		PASS	0.473	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		5	154	5	154	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52622577	52622577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:52622577G>A	ENST00000399231.3	-	34	4696	c.4453C>T	c.(4453-4455)Caa>Taa	p.Q1485*	MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q1482*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q1483*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q1510*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q1458*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1485					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.Q1485*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACAAGTTTTTGCTCATCCTCC	0.423																																						uc002aby.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4453-4455)CAA>TAA		myosin VA isoform 1							219.0	206.0	210.0					15																	52622577		1833	4087	5920	SO:0001587	stop_gained	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52622577G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4453C>T	15.37:g.52622577G>A	ENSP00000382177:p.Gln1485*					MYO5A_uc002abx.3_Nonsense_Mutation_p.Q1458*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.Q207*|MYO5A_uc002abz.1_RNA	p.Q1485*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	34	4697	-			1485					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	c.4453C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	43	10.100302	0.99337	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	5.55	5.55	0.83447	.	0.304873	0.34046	N	0.004320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.5113	0.95142	0.0:0.0:1.0:0.0	.	.	.	.	X	1485;992;1482;1458;1510;1088;1483	.	ENSP00000348693:Q1458X	Q	-	1	0	MYO5A	50409869	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	3.488000	0.53229	2.620000	0.88729	0.563000	0.77884	CAA		PASS	0.423	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	218	7	218	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912220	55912220	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:55912220G>T	ENST00000389286.4	-	20	3490	c.3443C>A	c.(3442-3444)cCc>cAc	p.P1148H		NM_173814.4	NP_776175.2			protogenin									p.P1148H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCAGAGGTTGGGGGGTGTGGT	0.493																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(3442-3444)CCC>CAC		protogenin precursor							65.0	65.0	65.0					15																	55912220		1925	4145	6070	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55912220G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3443C>A	15.37:g.55912220G>T	ENSP00000373937:p.Pro1148His						p.P1148H	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3491	-			1148						Missense_Mutation	SNP	ENST00000389286.4	37	c.3443C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062450	0.19987	.	.	ENSG00000166450	ENST00000389286	T	0.56103	0.48	2.64	1.69	0.24217	.	0.295763	0.30989	N	0.008471	T	0.45716	0.1356	N	0.14661	0.345	0.58432	D	0.999992	D	0.71674	0.998	P	0.58520	0.84	T	0.44620	-0.9316	10	0.87932	D	0	.	7.5608	0.27849	0.1462:0.0:0.8538:0.0	.	1148	Q2VWP7	PRTG_HUMAN	H	1148	ENSP00000373937:P1148H	ENSP00000373937:P1148H	P	-	2	0	PRTG	53699512	0.274000	0.24191	0.347000	0.25668	0.123000	0.20343	0.443000	0.21644	0.374000	0.24650	0.650000	0.86243	CCC		PASS	0.493	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		16	28	16	28	---	---	---	---
LIPC	3990	broad.mit.edu	37	15	58855731	58855731	+	Silent	SNP	G	G	T	rs560051123		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:58855731G>T	ENST00000356113.6	+	10	1812	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	LIPC_ENST00000414170.3_Silent_p.T399T|LIPC_ENST00000299022.5_Silent_p.T399T|LIPC_ENST00000433326.2_Silent_p.T338T			P11150	LIPC_HUMAN	lipase, hepatic	399	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.T399T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTAATAAAACGTATTCCTTTC	0.443																																						uc010bga.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1195-1197)ACG>ACT		lipase C precursor							119.0	98.0	105.0					15																	58855731		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58855731G>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1197G>T	15.37:g.58855731G>T						LIPC_uc010bfz.1_Silent_p.T399T|LIPC_uc002afa.1_Silent_p.T399T|LIPC_uc010bgb.1_Silent_p.T297T|LIPC_uc010ugy.1_Silent_p.T338T	p.T399T	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	10	1805	+		Colorectal(260;0.215)	399			PLAT.		A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.1197G>T	CCDS10166.1																																																																																				PASS	0.443	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			17	31	17	31	---	---	---	---
FOXB1	27023	broad.mit.edu	37	15	60298080	60298080	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:60298080C>A	ENST00000396057.4	+	2	1397	c.918C>A	c.(916-918)gcC>gcA	p.A306A	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	306					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A306A(1)|p.T306T(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCAGCCCCGCCACCCCCAGCG	0.711																																						uc002agj.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(916-918)GCC>GCA		forkhead box B1							9.0	13.0	12.0					15																	60298080		2089	4026	6115	SO:0001819	synonymous_variant	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60298080C>A	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.918C>A	15.37:g.60298080C>A						FOXB1_uc010bgh.1_Intron	p.A306A	NM_012182	NP_036314	Q99853	FOXB1_HUMAN			2	1397	+			306					O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	c.918C>A	CCDS32255.1																																																																																				PASS	0.711	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			4	7	4	7	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66048743	66048743	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:66048743C>A	ENST00000431932.2	-	3	254	c.46G>T	c.(46-48)Gca>Tca	p.A16S	DENND4A_ENST00000443035.3_Missense_Mutation_p.A16S	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	16					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A16S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTTAATCCTGCTACAACAAAG	0.373																																						uc002aph.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(46-48)GCA>TCA		DENN/MADD domain containing 4A isoform 2							72.0	67.0	69.0					15																	66048743		1839	4097	5936	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66048743C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.46G>T	15.37:g.66048743C>A	ENSP00000396830:p.Ala16Ser					DENND4A_uc002api.2_Missense_Mutation_p.A16S|DENND4A_uc002apj.3_Missense_Mutation_p.A16S|DENND4A_uc010ujj.1_Missense_Mutation_p.A16S	p.A16S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			3	424	-			16					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.46G>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019003	0.75275	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26373	1.74;1.74	5.69	5.69	0.88448	.	0.053570	0.85682	D	0.000000	T	0.45796	0.1360	M	0.85859	2.78	0.80722	D	1	P;P;P	0.50819	0.889;0.939;0.926	P;P;P	0.51866	0.682;0.556;0.471	T	0.51505	-0.8697	10	0.72032	D	0.01	.	13.0717	0.59066	0.0:0.9268:0.0:0.0732	.	16;16;16	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	S	16	ENSP00000391167:A16S;ENSP00000396830:A16S	ENSP00000396830:A16S	A	-	1	0	DENND4A	63835797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.677000	0.91161	0.655000	0.94253	GCA		PASS	0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		10	38	10	38	---	---	---	---
DIS3L	115752	broad.mit.edu	37	15	66615210	66615210	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:66615210C>A	ENST00000319212.4	+	10	1562	c.1512C>A	c.(1510-1512)caC>caA	p.H504Q	DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319194.5_Missense_Mutation_p.H421Q|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	504					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.H421Q(1)|p.H504Q(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						TTGGGGTCCACATCGCAGATG	0.418																																						uc010ujm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1510-1512)CAC>CAA		DIS3 mitotic control homolog (S.							102.0	93.0	96.0					15																	66615210		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66615210C>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.1512C>A	15.37:g.66615210C>A	ENSP00000321711:p.His504Gln					DIS3L_uc010ujl.1_Missense_Mutation_p.H134Q|DIS3L_uc002app.2_Missense_Mutation_p.H421Q|DIS3L_uc002apq.2_Missense_Mutation_p.H504Q|DIS3L_uc010bho.2_Missense_Mutation_p.H370Q	p.H504Q	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			10	1527	+			504					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.1512C>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147448	0.57151	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.60040	0.22;0.22	5.85	3.78	0.43462	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87731	0.2579	10	0.87932	D	0	-2.2912	10.7167	0.46017	0.0:0.8008:0.0:0.1992	.	504;370;504	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	Q	421;504	ENSP00000321583:H421Q;ENSP00000321711:H504Q	ENSP00000321583:H421Q	H	+	3	2	DIS3L	64402264	1.000000	0.71417	0.998000	0.56505	0.392000	0.30506	1.077000	0.30741	1.485000	0.48380	0.655000	0.94253	CAC		PASS	0.418	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		18	34	18	34	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73023961	73023961	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:73023961G>T	ENST00000268057.4	+	12	971	c.930G>T	c.(928-930)ttG>ttT	p.L310F	BBS4_ENST00000542334.1_Missense_Mutation_p.L138F|BBS4_ENST00000395205.2_Missense_Mutation_p.L318F|BBS4_ENST00000539603.1_Missense_Mutation_p.L298F	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	310	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.L310F(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGTATAATTTGGGCCTTGTCC	0.488									Bardet-Biedl syndrome																													uc002avb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TTG>TTT		Bardet-Biedl syndrome 4							126.0	121.0	122.0					15																	73023961		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73023961G>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.930G>T	15.37:g.73023961G>T	ENSP00000268057:p.Leu310Phe					BBS4_uc010ukv.1_Missense_Mutation_p.L298F|BBS4_uc002avc.2_Missense_Mutation_p.L138F|BBS4_uc002avd.2_Missense_Mutation_p.L318F|BBS4_uc010bja.2_Missense_Mutation_p.L66F	p.L310F	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			12	973	+			310			Interaction with PCM1.|TPR 8.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.930G>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336755	0.81801	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.85	4.94	0.65067	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.89840	3.065	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	0.85988	0.1487	10	0.87932	D	0	-8.6834	10.7335	0.46111	0.068:0.0:0.8007:0.1313	.	298;310;318;310	F5H7I8;B2RB60;Q96RK4-2;Q96RK4	.;.;.;BBS4_HUMAN	F	138;310;298;318	ENSP00000445964:L138F;ENSP00000268057:L310F;ENSP00000442492:L298F;ENSP00000378631:L318F	ENSP00000268057:L310F	L	+	3	2	BBS4	70811014	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	6.451000	0.73481	1.480000	0.48289	-0.150000	0.13652	TTG		PASS	0.488	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		38	58	38	58	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75702220	75702220	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:75702220C>A	ENST00000394947.3	-	8	1588	c.1274G>T	c.(1273-1275)tGc>tTc	p.C425F	SIN3A_ENST00000394949.4_Missense_Mutation_p.C425F|SIN3A_ENST00000360439.4_Missense_Mutation_p.C425F	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.C425F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCGGATCTGGCAGCCATTCTG	0.507																																						uc002bai.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(1273-1275)TGC>TTC		transcriptional co-repressor Sin3A							134.0	134.0	134.0					15																	75702220		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75702220C>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1274G>T	15.37:g.75702220C>A	ENSP00000378402:p.Cys425Phe					SIN3A_uc002baj.2_Missense_Mutation_p.C425F|SIN3A_uc010uml.1_Missense_Mutation_p.C425F	p.C425F	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			8	1533	-			425			Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.1274G>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108778	0.37242	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.40756	1.02;1.02;1.02	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.51422	1.61	0.80722	D	1	B	0.26902	0.163	B	0.28916	0.096	T	0.21449	-1.0245	10	0.44086	T	0.13	-14.8639	19.3421	0.94347	0.0:1.0:0.0:0.0	.	425	Q96ST3	SIN3A_HUMAN	F	425	ENSP00000378402:C425F;ENSP00000378403:C425F;ENSP00000353622:C425F	ENSP00000353622:C425F	C	-	2	0	SIN3A	73489273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.974000	0.70465	2.826000	0.97356	0.655000	0.94253	TGC		PASS	0.507	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		6	103	6	103	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75982089	75982089	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:75982089C>A	ENST00000308508.5	-	3	1409	c.1317G>T	c.(1315-1317)gtG>gtT	p.V439V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	439	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.V439V(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCCCTCGGCCACCACCAGTG	0.637																																						uc002baw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1315-1317)GTG>GTT		chondroitin sulfate proteoglycan 4 precursor							41.0	41.0	41.0					15																	75982089		2197	4292	6489	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982089C>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1317G>T	15.37:g.75982089C>A							p.V439V	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1410	-			439			Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1317G>T	CCDS10284.1																																																																																				PASS	0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		10	36	10	36	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85486718	85486718	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:85486718G>T	ENST00000286749.3	+	15	1714	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	SLC28A1_ENST00000394573.1_Missense_Mutation_p.A542S|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A542S|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A376S			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	542					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.A542S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGTGGATTTGCCAATTTCAG	0.552																																						uc002blg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1624-1626)GCC>TCC		solute carrier family 28, member 1 isoform 1							125.0	98.0	107.0					15																	85486718		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85486718G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1624G>T	15.37:g.85486718G>T	ENSP00000286749:p.Ala542Ser					SLC28A1_uc010bnb.2_Missense_Mutation_p.A542S|SLC28A1_uc010upe.1_Missense_Mutation_p.A376S|SLC28A1_uc010upf.1_Missense_Mutation_p.A542S|SLC28A1_uc010upg.1_Intron	p.A542S	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		16	1826	+			542			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1624G>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587589	0.66105	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.2	4.2	0.49525	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.79011	2.435	0.80722	D	1	B;D;P	0.76494	0.158;0.999;0.849	B;D;P	0.74348	0.076;0.983;0.573	T	0.23297	-1.0192	10	0.36615	T	0.2	-14.5628	14.4498	0.67376	0.0:0.0:1.0:0.0	.	542;376;542	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	S	376;542;542;542	ENSP00000443752:A376S;ENSP00000444700:A542S;ENSP00000286749:A542S;ENSP00000378074:A542S	ENSP00000286749:A542S	A	+	1	0	SLC28A1	83287722	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	6.276000	0.72601	2.312000	0.78011	0.563000	0.77884	GCC		PASS	0.552	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			6	37	6	37	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678528	88678528	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:88678528C>T	ENST00000360948.2	-	9	1169	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NTRK3_ENST00000557856.1_Silent_p.L336L|NTRK3_ENST00000355254.2_Silent_p.L336L|NTRK3_ENST00000540489.2_Silent_p.L336L|NTRK3_ENST00000558676.1_Silent_p.L336L|NTRK3_ENST00000542733.2_Silent_p.L238L|NTRK3_ENST00000317501.3_Silent_p.L336L|NTRK3_ENST00000394480.2_Silent_p.L336L|NTRK3_ENST00000357724.2_Silent_p.L336L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	336	Ig-like C2-type 2.		L -> Q (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L336L(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCCATTGTGCAGCCAGTGCA	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - coding silent(3)	p.L336Q(2)	lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1006-1008)CTG>CTA		neurotrophic tyrosine kinase, receptor, type 3							84.0	85.0	85.0					15																	88678528		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678528C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1008G>A	15.37:g.88678528C>T		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.L336L|NTRK3_uc002bmf.1_Silent_p.L336L|NTRK3_uc010upl.1_Silent_p.L238L|NTRK3_uc010bnh.1_Silent_p.L336L|NTRK3_uc002bmg.2_Silent_p.L336L	p.L336L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1170	-			336		L -> Q (in a lung adenocarcinoma sample; somatic mutation).	Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1008G>A	CCDS32322.1																																																																																				PASS	0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				13	45	13	45	---	---	---	---
DET1	55070	broad.mit.edu	37	15	89074248	89074248	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:89074248G>A	ENST00000268148.8	-	2	834	c.689C>T	c.(688-690)gCc>gTc	p.A230V	DET1_ENST00000564406.1_Missense_Mutation_p.A241V|DET1_ENST00000444300.1_Missense_Mutation_p.A241V|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000558413.1_Intron	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	230						nucleus (GO:0005634)		p.A241V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGACAAGATGGCCAGGATGTT	0.498																																						uc002bmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(688-690)GCC>GTC		de-etiolated 1 isoform 2							80.0	78.0	79.0					15																	89074248		2026	4195	6221	SO:0001583	missense	55070					nucleus		g.chr15:89074248G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.689C>T	15.37:g.89074248G>A	ENSP00000268148:p.Ala230Val					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.A241V	p.A230V	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	841	-	Lung NSC(78;0.105)|all_lung(78;0.182)		230					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.689C>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716539	0.89205	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.83118	2.625	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.64595	0.927;0.927	T	0.82287	-0.0532	9	0.48119	T	0.1	-35.2806	19.8676	0.96824	0.0:0.0:1.0:0.0	.	230;241	Q7L5Y6;B3KNN6	DET1_HUMAN;.	V	241;230	.	ENSP00000268148:A230V	A	-	2	0	DET1	86875252	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.309000	0.78937	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.498	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		12	24	12	24	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89401694	89401694	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:89401694G>T	ENST00000561243.1	+	11	5878	c.5878G>T	c.(5878-5880)Ggc>Tgc	p.G1960C	ACAN_ENST00000559004.1_Missense_Mutation_p.G1960C|ACAN_ENST00000352105.7_Missense_Mutation_p.G1960C|ACAN_ENST00000439576.2_Missense_Mutation_p.G1960C			P16112	PGCA_HUMAN	aggrecan	1950	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G1846C(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCCTTCTGGCATTTTAGA	0.517																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5878-5880)GGC>TGC		aggrecan isoform 2 precursor							41.0	43.0	43.0					15																	89401694		1867	4106	5973	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401694G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5878G>T	15.37:g.89401694G>T	ENSP00000453342:p.Gly1960Cys					ACAN_uc010upp.1_Missense_Mutation_p.G1960C|ACAN_uc002bna.2_RNA	p.G1960C	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6252	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1960					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5878G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	9.175	1.022022	0.19433	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03358	4.21;3.96	5.29	3.39	0.38822	.	0.257998	0.20630	N	0.088609	T	0.17619	0.0423	M	0.82630	2.6	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	T	0.02596	-1.1136	10	0.62326	D	0.03	-8.4898	11.0057	0.47633	0.1528:0.0:0.8472:0.0	.	1960;1960	E7ENV9;E7EX88	.;.	C	1960;1960;1846	ENSP00000387356:G1960C;ENSP00000341615:G1960C	ENSP00000268134:G1846C	G	+	1	0	ACAN	87202698	0.990000	0.36364	0.301000	0.25044	0.217000	0.24651	3.363000	0.52321	0.590000	0.29694	0.655000	0.94253	GGC		PASS	0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	49	5	49	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91524153	91524153	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:91524153G>T	ENST00000361188.5	-	6	1994	c.783C>A	c.(781-783)gcC>gcA	p.A261A	PRC1_ENST00000394249.3_Silent_p.A261A|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Silent_p.A220A|PRC1_ENST00000361919.3_Silent_p.A261A					protein regulator of cytokinesis 1									p.A261A(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACATAATGGTGGCCACAGCTT	0.488																																						uc002bqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(781-783)GCC>GCA		protein regulator of cytokinesis 1 isoform 1							122.0	116.0	118.0					15																	91524153		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524153G>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.783C>A	15.37:g.91524153G>T						PRC1_uc002bqn.2_Silent_p.A261A|PRC1_uc002bqo.2_Silent_p.A261A|PRC1_uc010uqs.1_Silent_p.A220A	p.A261A	NM_003981	NP_003972	O43663	PRC1_HUMAN			6	940	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		261			Potential.|Dimerization.			Silent	SNP	ENST00000361188.5	37	c.783C>A	CCDS45352.1																																																																																				PASS	0.488	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		18	54	18	54	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101597159	101597159	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:101597159C>A	ENST00000388948.3	+	28	4790	c.4431C>A	c.(4429-4431)tcC>tcA	p.S1477S	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.S1474S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.S1489S(1)|p.S1477S(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGAAGCTGTCCAAGGGCATCC	0.592																																						uc002bwr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(4429-4431)TCC>TCA		leucine-rich repeat kinase 1							76.0	83.0	81.0					15																	101597159		1988	4168	6156	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101597159C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4431C>A	15.37:g.101597159C>A						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.S1477S	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4750	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1477			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4431C>A	CCDS42086.1																																																																																				PASS	0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		27	57	27	57	---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102255120	102255120	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr15:102255120G>A	ENST00000335968.3	-	4	829	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	205					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.L205L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTCCCACAGTTCACCATTG	0.443																																						uc002bxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(613-615)CTG>TTG		threonyl-tRNA synthetase-like 2							88.0	82.0	84.0					15																	102255120		2203	4300	6503	SO:0001819	synonymous_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102255120G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.613C>T	15.37:g.102255120G>A						TARSL2_uc010usi.1_RNA	p.L205L	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	668	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		205					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	ENST00000335968.3	37	c.613C>T	CCDS10394.1																																																																																				PASS	0.443	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		29	62	29	62	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	703577	703577	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:703577C>A	ENST00000293879.4	+	12	1286	c.1286C>A	c.(1285-1287)gCa>gAa	p.A429E	WDR90_ENST00000549091.1_Missense_Mutation_p.A429E|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	429								p.A429E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCGGCCCAGGCAAGGGCCCCT	0.647																																						uc002cii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1285-1287)GCA>GAA		WD repeat domain 90							63.0	70.0	68.0					16																	703577		2010	4164	6174	SO:0001583	missense	197335							g.chr16:703577C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1286C>A	16.37:g.703577C>A	ENSP00000293879:p.Ala429Glu					WDR90_uc002cig.1_Missense_Mutation_p.A429E|WDR90_uc002cih.1_Missense_Mutation_p.A430E|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	p.A429E	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			12	1340	+		Hepatocellular(780;0.0218)	429			WD 1.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1286C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.215670	0.01542	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.28666	1.63;1.6	4.74	-2.29	0.06805	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.440694	0.18738	U	0.132522	T	0.14743	0.0356	N	0.25485	0.75	0.25770	N	0.984848	B;B;B	0.18013	0.017;0.025;0.019	B;B;B	0.18561	0.011;0.014;0.022	T	0.13072	-1.0523	10	0.27082	T	0.32	.	3.625	0.08109	0.103:0.3946:0.1022:0.4001	.	429;430;429	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	E	429	ENSP00000448122:A429E;ENSP00000293879:A429E	ENSP00000293879:A429E	A	+	2	0	WDR90	643578	0.014000	0.17966	0.029000	0.17559	0.002000	0.02628	0.202000	0.17295	-0.260000	0.09418	-0.291000	0.09656	GCA		PASS	0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		25	51	25	51	---	---	---	---
FBXL16	146330	broad.mit.edu	37	16	745747	745747	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:745747C>A	ENST00000397621.1	-	3	1141	c.810G>T	c.(808-810)ctG>ctT	p.L270L	FBXL16_ENST00000562563.1_Silent_p.L58L|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Silent_p.L270L	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	270								p.L270L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TCAGCTCCGCCAGGTTGGGCA	0.692																																						uc002cjc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(808-810)CTG>CTT		F-box and leucine-rich repeat protein 16							37.0	34.0	35.0					16																	745747		2198	4293	6491	SO:0001819	synonymous_variant	146330							g.chr16:745747C>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.810G>T	16.37:g.745747C>A						FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Silent_p.L58L	p.L270L	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			4	1013	-		Hepatocellular(780;0.0218)	270			LRR 2.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Silent	SNP	ENST00000397621.1	37	c.810G>T	CCDS10421.1																																																																																				PASS	0.692	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		8	17	8	17	---	---	---	---
FBXL16	146330	broad.mit.edu	37	16	747007	747007	+	Missense_Mutation	SNP	G	G	T	rs11555893		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:747007G>T	ENST00000397621.1	-	2	730	c.399C>A	c.(397-399)ttC>ttA	p.F133L	FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.F133L	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	133	F-box.							p.F133L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGCCTGCCCAGAACTTGGGCT	0.617																																						uc002cjc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)TTC>TTA		F-box and leucine-rich repeat protein 16							43.0	41.0	42.0					16																	747007		2199	4300	6499	SO:0001583	missense	146330							g.chr16:747007G>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.399C>A	16.37:g.747007G>T	ENSP00000380746:p.Phe133Leu					FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank	p.F133L	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			3	602	-		Hepatocellular(780;0.0218)	133			F-box.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.399C>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	13.43	2.235508	0.39498	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.18174	2.23;2.23	4.01	4.01	0.46588	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	L	0.28458	0.855	0.51233	D	0.999916	B	0.30605	0.287	B	0.23716	0.048	T	0.08249	-1.0731	10	0.02654	T	1	.	7.8166	0.29263	0.1982:0.0:0.8018:0.0	rs11555893	133	Q8N461	FXL16_HUMAN	L	133	ENSP00000380746:F133L;ENSP00000318674:F133L	ENSP00000318674:F133L	F	-	3	2	FBXL16	687008	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.267000	0.65530	1.798000	0.52647	0.313000	0.20887	TTC		PASS	0.617	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		11	20	11	20	---	---	---	---
CCDC78	124093	broad.mit.edu	37	16	775523	775523	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:775523G>T	ENST00000293889.6	-	4	430	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	109					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)		p.Q109K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCACAGCCCTGGCTGGTGCCA	0.652																																						uc002cjg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(325-327)CAG>AAG		coiled-coil domain containing 78							55.0	53.0	54.0					16																	775523		2196	4296	6492	SO:0001583	missense	124093							g.chr16:775523G>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.325C>A	16.37:g.775523G>T	ENSP00000293889:p.Gln109Lys					CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.Q183K|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.Q109K|CCDC78_uc002cjk.2_Missense_Mutation_p.Q109K|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	p.Q109K	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			4	431	-		Hepatocellular(780;0.0218)	109					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.325C>A	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	4.500	0.092788	0.08632	.	.	ENSG00000162004	ENST00000293889	T	0.44083	0.93	3.03	2.02	0.26589	.	1.860450	0.03441	N	0.209351	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27732	0.003;0.003;0.003;0.187	B;B;B;B	0.24701	0.006;0.006;0.006;0.055	T	0.18999	-1.0319	10	0.22109	T	0.4	.	7.3668	0.26779	0.0:0.0:0.7381:0.2619	.	109;109;183;109	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	K	109	ENSP00000293889:Q109K	ENSP00000293889:Q109K	Q	-	1	0	CCDC78	715524	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.367000	0.20382	0.342000	0.23796	-0.694000	0.03704	CAG		PASS	0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		14	27	14	27	---	---	---	---
SOX8	30812	broad.mit.edu	37	16	1034912	1034912	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:1034912G>T	ENST00000293894.3	+	3	982	c.867G>T	c.(865-867)ctG>ctT	p.L289L		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	289					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L289L(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				ACCAGTACCTGCCCCTGGGCG	0.687																																						uc002ckn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(865-867)CTG>CTT		SRY (sex determining region Y)-box 8							20.0	20.0	20.0					16																	1034912		2191	4292	6483	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034912G>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.867G>T	16.37:g.1034912G>T							p.L289L	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	982	+		Hepatocellular(780;0.00308)	289					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.867G>T	CCDS10428.1																																																																																				PASS	0.687	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			4	11	4	11	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250467	1250467	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:1250467A>C	ENST00000348261.5	+	7	1263	c.1015A>C	c.(1015-1017)Aac>Cac	p.N339H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.N339H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.N339H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	339					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.N339H(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGCCTGCATCAACTGGAACCA	0.662																																						uc002cks.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(1015-1017)AAC>CAC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						47.0	52.0	50.0					16																	1250467		2129	4223	6352	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250467A>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1015A>C	16.37:g.1250467A>C	ENSP00000334198:p.Asn339His					CACNA1H_uc002ckt.2_Missense_Mutation_p.N339H	p.N339H	NM_021098	NP_066921	O95180	CAC1H_HUMAN			7	1263	+		Hepatocellular(780;0.00369)	339			Extracellular (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.1015A>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487649	0.84854	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97328	-4.34;-4.28	4.4	4.4	0.53042	Ion transport (1);	0.460942	0.14098	U	0.341588	D	0.98343	0.9450	M	0.82517	2.595	0.35807	D	0.823599	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99950	1.1525	10	0.87932	D	0	.	12.9571	0.58434	1.0:0.0:0.0:0.0	.	339;339	O95180-2;O95180	.;CAC1H_HUMAN	H	339	ENSP00000334198:N339H;ENSP00000351401:N339H	ENSP00000334198:N339H	N	+	1	0	CACNA1H	1190468	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.638000	0.67861	1.845000	0.53610	0.478000	0.44815	AAC		PASS	0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	20	5	20	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545603	1545603	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:1545603G>A	ENST00000262319.6	+	3	871	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	198					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.A198T(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGTGCTGCAGGCGGTTGTGGA	0.662																																						uc002cly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GCG>ACG		TEL2, telomere maintenance 2, homolog							45.0	49.0	48.0					16																	1545603		2197	4298	6495	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545603G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.592G>A	16.37:g.1545603G>A	ENSP00000262319:p.Ala198Thr					TELO2_uc010uvg.1_Missense_Mutation_p.A198T	p.A198T	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			3	883	+		Hepatocellular(780;0.219)	198					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.592G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055406	0.07362	.	.	ENSG00000100726	ENST00000262319	T	0.31769	1.48	5.33	0.464	0.16706	.	0.762005	0.12246	N	0.486050	T	0.21801	0.0525	L	0.57536	1.79	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	T	0.32851	-0.9891	10	0.11794	T	0.64	-4.1776	3.0795	0.06258	0.5134:0.0:0.2855:0.2011	.	198	Q9Y4R8	TELO2_HUMAN	T	198	ENSP00000262319:A198T	ENSP00000262319:A198T	A	+	1	0	TELO2	1485604	0.172000	0.23043	0.001000	0.08648	0.070000	0.16714	0.500000	0.22562	0.184000	0.20083	0.655000	0.94253	GCG		PASS	0.662	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		20	36	20	36	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2331439	2331439	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:2331439C>A	ENST00000301732.5	-	27	4807	c.4107G>T	c.(4105-4107)ctG>ctT	p.L1369L	ABCA3_ENST00000382381.3_Silent_p.L1311L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1369					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L1369L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GACTGGGGGCCAGGATGCGGG	0.567																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4105-4107)CTG>CTT		ATP-binding cassette, sub-family A member 3							67.0	69.0	68.0					16																	2331439		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331439C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4107G>T	16.37:g.2331439C>A						ABCA3_uc010bsk.1_Silent_p.L1311L	p.L1369L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			27	4819	-		Ovarian(90;0.17)	1369					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4107G>T	CCDS10466.1																																																																																				PASS	0.567	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	45	5	45	---	---	---	---
CEMP1	752014	broad.mit.edu	37	16	2580743	2580743	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:2580743G>T	ENST00000567119.1	-	1	666	c.332C>A	c.(331-333)cCa>cAa	p.P111Q	AMDHD2_ENST00000413459.3_Missense_Mutation_p.G590W|AMDHD2_ENST00000302956.4_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.P111Q|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	111						cytoplasm (GO:0005737)		p.P111Q(1)		lung(1)|skin(1)	2						CCACCTGCCTGGGCAGGGCCT	0.627																																						uc010uwc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|breast(1)	4						c.(1768-1770)GGG>TGG		amidohydrolase domain containing 2 isoform 2							33.0	38.0	36.0					16																	2580743		1970	4141	6111	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2580743G>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.332C>A	16.37:g.2580743G>T	ENSP00000457380:p.Pro111Gln					AMDHD2_uc010uwd.1_Missense_Mutation_p.G354W|CEMP1_uc002cqr.2_Missense_Mutation_p.P111Q	p.G590W	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN			11	1865	+			Error:Variant_position_missing_in_Q9Y303_after_alignment					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.1768G>T	CCDS42108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.661|1.661	-0.511557|-0.511557	0.04200|0.04200	.|.	.|.	ENSG00000162066|ENSG00000205923	ENST00000413459|ENST00000382350	.|T	.|0.57595	.|0.39	1.75|1.75	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.35451|0.35451	0.0932|0.0932	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.14438	0.0|0.01	B|B	0.01281|0.09377	0.0|0.004	T|T	0.21143|0.21143	-1.0254|-1.0254	7|8	0.87932|0.87932	D|D	0|0	.|.	3.6944|3.6944	0.08358|0.08358	0.3206:0.0:0.4723:0.2071|0.3206:0.0:0.4723:0.2071	.|.	590|111	Q9Y303-3|Q6PRD7	.|CEMP1_HUMAN	W|Q	590|111	.|ENSP00000371787:P111Q	ENSP00000391596:G590W|ENSP00000371787:P111Q	G|P	+|-	1|2	0|0	AMDHD2|CEMP1	2520744|2520744	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.077000|-0.077000	0.11394|0.11394	-1.441000|-1.441000	0.01958|0.01958	-1.327000|-1.327000	0.01280|0.01280	GGG|CCA		PASS	0.627	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		12	16	12	16	---	---	---	---
PRSS22	64063	broad.mit.edu	37	16	2905791	2905791	+	Missense_Mutation	SNP	C	C	A	rs146582104		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:2905791C>A	ENST00000161006.3	-	4	408	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	PRSS22_ENST00000571228.1_Intron|LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	115	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G115C(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GACCGAGAGCCAGGGTTCCCC	0.612																																						uc002cry.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(343-345)GGC>TGC		protease, serine, 22 precursor							40.0	42.0	41.0					16																	2905791		2198	4300	6498	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2905791C>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.343G>T	16.37:g.2905791C>A	ENSP00000161006:p.Gly115Cys					PRSS22_uc002crz.1_Intron	p.G115C	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			4	409	-			115			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.343G>T	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	c	17.77	3.470145	0.63625	.	.	ENSG00000005001	ENST00000161006	D	0.82167	-1.58	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000034	D	0.89406	0.6706	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90128	0.4204	10	0.72032	D	0.01	.	13.7567	0.62942	0.0:1.0:0.0:0.0	.	115	Q9GZN4	BSSP4_HUMAN	C	115	ENSP00000161006:G115C	ENSP00000161006:G115C	G	-	1	0	PRSS22	2845792	0.253000	0.23982	0.629000	0.29254	0.967000	0.64934	1.666000	0.37460	2.513000	0.84729	0.555000	0.69702	GGC		PASS	0.612	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		4	17	4	17	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3640826	3640826	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:3640826G>T	ENST00000294008.3	-	12	3453	c.2813C>A	c.(2812-2814)gCa>gAa	p.A938E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	938	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.A938E(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCTCCCCGTGCCCCTGAGTG	0.662								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2812-2814)GCA>GAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							55.0	60.0	58.0					16																	3640826		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640826G>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2813C>A	16.37:g.3640826G>T	ENSP00000294008:p.Ala938Glu						p.A938E	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3440	-			938			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2813C>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	0.932	-0.712419	0.03206	.	.	ENSG00000188827	ENST00000294008	T	0.01106	5.33	4.74	-3.58	0.04597	.	2.903010	0.01779	N	0.031623	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.02654	T	1	.	2.6186	0.04910	0.106:0.1611:0.406:0.3268	.	938	Q8IY92	SLX4_HUMAN	E	938	ENSP00000294008:A938E	ENSP00000294008:A938E	A	-	2	0	SLX4	3580827	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-0.944000	0.03686	-0.397000	0.06425	GCA		PASS	0.662	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		22	69	22	69	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11066808	11066808	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:11066808C>A	ENST00000409790.1	+	7	848	c.618C>A	c.(616-618)gcC>gcA	p.A206A	CLEC16A_ENST00000409552.3_Silent_p.A204A	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.A206A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATAACCAGGCCATGCTGCACT	0.393																																						uc002dao.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)GCC>GCA		C-type lectin domain family 16, member A							93.0	85.0	87.0					16																	11066808		1912	4129	6041	SO:0001819	synonymous_variant	23274							g.chr16:11066808C>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.618C>A	16.37:g.11066808C>A						CLEC16A_uc002dan.3_Silent_p.A204A	p.A206A	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			7	848	+			206						Silent	SNP	ENST00000409790.1	37	c.618C>A	CCDS45409.1																																																																																				PASS	0.393	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		6	15	6	15	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12146003	12146003	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:12146003G>T	ENST00000566228.1	+	8	1117	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	350						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.V350L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGATGAAGATGTGGATGAAAA	0.473																																						uc002dbw.1										T					CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)GTG>TTG		RUN domain containing 2A							93.0	96.0	95.0					16																	12146003		2197	4298	6495	SO:0001583	missense	84127							g.chr16:12146003G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1048G>T	16.37:g.12146003G>T	ENSP00000456480:p.Val350Leu					SNX29_uc002dby.3_5'Flank	p.V350L	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			8	1110	+			350					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1048G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415104	0.42817	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	4.87	0.63330	.	0.655228	0.14461	N	0.318194	T	0.40619	0.1124	N	0.16478	0.41	0.42913	D	0.994265	.	.	.	.	.	.	T	0.25847	-1.0120	7	0.41790	T	0.15	-25.406	6.6596	0.23007	0.1129:0.0:0.7065:0.1806	.	.	.	.	L	350	.	ENSP00000268271:V350L	V	+	1	0	RUNDC2A	12053504	0.574000	0.26684	0.679000	0.29978	0.941000	0.58515	1.588000	0.36633	2.804000	0.96469	0.462000	0.41574	GTG		PASS	0.473	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			15	59	15	59	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21728314	21728314	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:21728314G>T	ENST00000286149.4	+	14	1618	c.1617G>T	c.(1615-1617)agG>agT	p.R539S	OTOA_ENST00000388957.3_Missense_Mutation_p.R201S|OTOA_ENST00000388956.4_Missense_Mutation_p.R446S|OTOA_ENST00000388958.3_Missense_Mutation_p.R525S			Q7RTW8	OTOAN_HUMAN	otoancorin	539					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.R525S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ATTTAAGGAGGCAACCTGGAT	0.473																																						uc002djh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1573-1575)AGG>AGT		otoancorin isoform 1							132.0	126.0	128.0					16																	21728314		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21728314G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1617G>T	16.37:g.21728314G>T	ENSP00000286149:p.Arg539Ser					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R446S|OTOA_uc002dji.2_Missense_Mutation_p.R201S|OTOA_uc010vbk.1_Missense_Mutation_p.R173S	p.R525S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	14	1576	+			539					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1575G>T		.	.	.	.	.	.	.	.	.	.	G	10.65	1.409423	0.25378	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.38	2.34	0.29019	.	0.474896	0.22883	N	0.054493	T	0.73783	0.3631	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.23185	0.081;0.081;0.034;0.047	B;B;B;B	0.24006	0.05;0.05;0.02;0.05	T	0.59188	-0.7501	10	0.31617	T	0.26	-4.1363	7.0112	0.24863	0.3645:0.0:0.6355:0.0	.	539;446;201;525	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	S	525;539;446;201	ENSP00000373610:R525S;ENSP00000286149:R539S;ENSP00000373608:R446S;ENSP00000373609:R201S	ENSP00000286149:R539S	R	+	3	2	OTOA	21635815	0.972000	0.33761	0.075000	0.20258	0.713000	0.41058	0.572000	0.23684	0.238000	0.21222	0.655000	0.94253	AGG		PASS	0.473	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			30	72	30	72	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23716314	23716314	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:23716314C>A	ENST00000457008.2	-	8	782	c.744G>T	c.(742-744)ctG>ctT	p.L248L	ERN2_ENST00000256797.4_Silent_p.L296L					endoplasmic reticulum to nucleus signaling 2									p.L296L(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGTCTCGAGCCAGCGTGAGAT	0.667																																						uc002dma.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(886-888)CTG>CTT		endoplasmic reticulum to nucleus signalling 2							57.0	57.0	57.0					16																	23716314		2197	4299	6496	SO:0001819	synonymous_variant	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.chr16:23716314C>A	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		ENST00000457008.2:c.744G>T	16.37:g.23716314C>A						ERN2_uc010bxp.2_Silent_p.L296L|ERN2_uc010bxq.1_Silent_p.L104L	p.L296L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	1057	-			248			Lumenal (Potential).			Silent	SNP	ENST00000457008.2	37	c.888G>T																																																																																					PASS	0.667	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			19	34	19	34	---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28604827	28604827	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:28604827C>A	ENST00000395630.1	-	5	785	c.435G>T	c.(433-435)atG>atT	p.M145I	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Missense_Mutation_p.M145I	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	145					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.M145I(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						ACACTTTGGCCATGTGGTAGA	0.557																																						uc002dqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)ATG>ATT		sulfotransferase family, cytosolic, 1A,							162.0	150.0	154.0					16																	28604827		2197	4300	6497	SO:0001583	missense	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28604827C>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.435G>T	16.37:g.28604827C>A	ENSP00000378992:p.Met145Ile					uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.M145I	p.M145I	NM_177528	NP_803564	P50226	ST1A2_HUMAN			5	786	-			145					A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	c.435G>T	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.523502	0.64747	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	D;D;D	0.82433	-1.61;-1.61;-1.61	4.6	4.6	0.57074	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.66506	2.035	0.44668	D	0.997658	D	0.55800	0.973	P	0.59948	0.866	D	0.89623	0.3850	10	0.62326	D	0.03	.	14.9673	0.71204	0.0:1.0:0.0:0.0	.	145	P50226	ST1A2_HUMAN	I	145	ENSP00000338742:M145I;ENSP00000378992:M145I;ENSP00000435358:M145I	ENSP00000338742:M145I	M	-	3	0	SULT1A2	28512328	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	7.737000	0.84957	2.090000	0.63153	0.556000	0.70494	ATG		PASS	0.557	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		15	20	15	20	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28965898	28965898	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:28965898C>A	ENST00000320805.4	+	3	548	c.473C>A	c.(472-474)gCa>gAa	p.A158E	RP11-264B17.2_ENST00000568057.1_RNA|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	158					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A158E(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GCAGAGCTGGCAGATTCGAGT	0.527																																						uc002dru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(472-474)GCA>GAA		nuclear factor of activated T-cells,							124.0	126.0	126.0					16																	28965898		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28965898C>A	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.473C>A	16.37:g.28965898C>A	ENSP00000324792:p.Ala158Glu					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron	p.A158E	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			3	488	+			158					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.473C>A	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	7.075	0.569150	0.13560	.	.	ENSG00000176953	ENST00000320805	T	0.22743	1.94	3.61	1.6	0.23607	.	1.024840	0.07775	N	0.952471	T	0.14056	0.0340	L	0.31294	0.92	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.36578	-0.9742	10	0.10636	T	0.68	-0.5894	8.5172	0.33253	0.4212:0.5788:0.0:0.0	.	158	Q8NCF5	NF2IP_HUMAN	E	158	ENSP00000324792:A158E	ENSP00000324792:A158E	A	+	2	0	NFATC2IP	28873399	0.569000	0.26643	0.010000	0.14722	0.003000	0.03518	1.675000	0.37555	0.493000	0.27837	-0.310000	0.09108	GCA		PASS	0.527	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		44	115	44	115	---	---	---	---
FAM57B	83723	broad.mit.edu	37	16	30038080	30038080	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:30038080G>T	ENST00000380495.4	-	3	1025	c.294C>A	c.(292-294)caC>caA	p.H98Q	FAM57B_ENST00000564806.1_Missense_Mutation_p.H48Q|FAM57B_ENST00000279389.4_Missense_Mutation_p.H48Q	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	98	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.H98Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGGTGCTTGTGCCAGTGAC	0.597																																						uc002dvt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAC>CAA		hypothetical protein LOC83723							93.0	71.0	79.0					16																	30038080		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30038080G>T	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.294C>A	16.37:g.30038080G>T	ENSP00000369863:p.His98Gln					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_Missense_Mutation_p.H48Q	p.H98Q	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN			3	632	-			98			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.294C>A	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.616852|4.616852	0.87359|0.87359	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	D|.	0.84370|.	-1.84|.	5.83|5.83	4.88|4.88	0.63580|0.63580	TRAM/LAG1/CLN8 homology domain (3);|.	0.112629|.	0.64402|.	D|.	0.000007|.	T|T	0.57784|0.57784	0.2077|0.2077	L|L	0.39633|0.39633	1.23|1.23	0.54753|0.54753	D|D	0.999985|0.999985	D;D|.	0.76494|.	0.999;0.989|.	D;D|.	0.68483|.	0.958;0.915|.	T|T	0.54715|0.54715	-0.8252|-0.8252	10|5	0.30078|.	T|.	0.28|.	-9.7552|-9.7552	13.7765|13.7765	0.63057|0.63057	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	98;98|.	F1T0F5;Q71RH2|.	.;FA57B_HUMAN|.	Q|K	98|65	ENSP00000369863:H98Q|.	ENSP00000369863:H98Q|.	H|T	-|-	3|2	2|0	FAM57B|FAM57B	29945581|29945581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.419000|6.419000	0.73345|0.73345	1.469000|1.469000	0.48083|0.48083	0.655000|0.655000	0.94253|0.94253	CAC|ACA		PASS	0.597	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		6	26	6	26	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30123997	30123997	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:30123997C>A	ENST00000406256.3	-	3	677	c.300G>T	c.(298-300)gtG>gtT	p.V100V	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	100	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.V100V(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CCAGGCTGCCCACATCCCTGT	0.627											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)GTG>GTT		glycerophosphodiester phosphodiesterase domain							72.0	67.0	69.0					16																	30123997		2197	4300	6497	SO:0001819	synonymous_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123997C>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.300G>T	16.37:g.30123997C>A			OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Silent_p.V38V|LOC100271831_uc010vei.1_5'Flank	p.V100V	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			3	379	-			100			Extracellular (Potential).|GDPD.		Q9H652	Silent	SNP	ENST00000406256.3	37	c.300G>T	CCDS10671.2																																																																																				PASS	0.627	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		21	32	21	32	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364605	30364605	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:30364605G>T	ENST00000305596.3	-	6	987	c.812C>A	c.(811-813)gCa>gAa	p.A271E	CD2BP2_ENST00000569466.1_Missense_Mutation_p.A271E|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	271					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.A271E(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CCGCGACTCTGCTTCTAAAAT	0.572																																						uc002dxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GCA>GAA		CD2 antigen (cytoplasmic tail) binding protein							111.0	102.0	105.0					16																	30364605		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364605G>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.812C>A	16.37:g.30364605G>T	ENSP00000304903:p.Ala271Glu					CD2BP2_uc002dxs.2_Missense_Mutation_p.A271E	p.A271E	NM_006110	NP_006101	O95400	CD2B2_HUMAN			5	1065	-			271					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.812C>A	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.509449	0.00984	.	.	ENSG00000169217	ENST00000305596	T	0.28666	1.6	4.61	1.4	0.22301	.	0.304486	0.36234	N	0.002710	T	0.12008	0.0292	N	0.14661	0.345	0.40054	D	0.975816	B	0.06786	0.001	B	0.08055	0.003	T	0.25047	-1.0143	10	0.02654	T	1	0.8772	5.8666	0.18779	0.1799:0.1571:0.663:0.0	.	271	O95400	CD2B2_HUMAN	E	271	ENSP00000304903:A271E	ENSP00000304903:A271E	A	-	2	0	CD2BP2	30272106	0.976000	0.34144	0.950000	0.38849	0.361000	0.29550	2.133000	0.42093	0.556000	0.29098	-0.140000	0.14226	GCA		PASS	0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		11	45	11	45	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30389812	30389812	+	Silent	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:30389812C>T	ENST00000571393.1	-	12	1233	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	SEPT1_ENST00000321367.3_Silent_p.K396K|SEPT1_ENST00000605106.1_Silent_p.K354K			Q8WYJ6	SEPT1_HUMAN	septin 1	349					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.K349K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGGCCTGCATCTTCTCCAGCA	0.687																																						uc002dxy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1045-1047)AAG>AAA		septin 1							35.0	29.0	31.0					16																	30389812		2196	4299	6495	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30389812C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.1047G>A	16.37:g.30389812C>T						SEPT1_uc002dxw.2_RNA|SEPT1_uc002dxx.2_Silent_p.K174K	p.K349K	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		12	1234	-			349					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.1047G>A																																																																																					PASS	0.687	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		3	11	3	11	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647476	33647476	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:33647476G>T	ENST00000558425.1	-	2	123	c.124C>A	c.(124-126)Cca>Aca	p.P42T																								CCAGAGTCTGGACAGGACAGT	0.572																																						uc010vga.1																			0													Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h.							122.0	138.0	133.0					16																	33647476		1848	4115	5963	SO:0001583	missense	0							g.chr16:33647476G>T																												ENST00000558425.1:c.124C>A	16.37:g.33647476G>T	ENSP00000475107:p.Pro42Thr													1		-									RNA	SNP	ENST00000558425.1	37	c.67C>A																																																																																					PASS	0.572	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				44	94	44	94	---	---	---	---
PDP2	57546	broad.mit.edu	37	16	66918303	66918303	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:66918303G>T	ENST00000311765.2	+	2	450	c.116G>T	c.(115-117)tGg>tTg	p.W39L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	39					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.W39L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATTAAAATGGAGGCTCTTT	0.453																																						uc002eqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)TGG>TTG		pyruvate dehydrogenase phosphatase isoenzyme 2							96.0	107.0	104.0					16																	66918303		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918303G>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.116G>T	16.37:g.66918303G>T	ENSP00000309548:p.Trp39Leu						p.W39L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	278	+		Ovarian(137;0.0563)	39					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.116G>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687969	0.29962	.	.	ENSG00000172840	ENST00000311765	T	0.45276	0.9	5.53	4.57	0.56435	.	0.407080	0.25272	N	0.031873	T	0.39860	0.1094	M	0.64997	1.995	0.38801	D	0.955195	B	0.06786	0.001	B	0.04013	0.001	T	0.37596	-0.9699	10	0.10111	T	0.7	-0.9793	16.1254	0.81392	0.0:0.0:0.8653:0.1347	.	39	Q9P2J9	PDP2_HUMAN	L	39	ENSP00000309548:W39L	ENSP00000309548:W39L	W	+	2	0	PDP2	65475804	1.000000	0.71417	0.679000	0.29978	0.498000	0.33706	4.336000	0.59304	1.466000	0.48025	0.650000	0.86243	TGG		PASS	0.453	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		34	77	34	77	---	---	---	---
LRRC29	26231	broad.mit.edu	37	16	67241850	67241850	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:67241850G>T	ENST00000409037.1	-	3	1325	c.429C>A	c.(427-429)ggC>ggA	p.G143G	LRRC29_ENST00000341546.3_Silent_p.G143G|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_Silent_p.G143G|LRRC29_ENST00000409509.1_Silent_p.G143G			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	143	F-box.							p.G143G(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGGGCCCAGCCCTTGTCAC	0.607																																						uc002esd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)GGC>GGA		F-box and leucine-rich repeat protein 9							34.0	35.0	34.0					16																	67241850		2198	4300	6498	SO:0001819	synonymous_variant	26231							g.chr16:67241850G>T	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.429C>A	16.37:g.67241850G>T						LRRC29_uc002ese.2_Silent_p.G143G|LRRC29_uc002esf.2_Silent_p.G143G|LRRC29_uc002esg.2_Silent_p.G143G	p.G143G	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	3	1326	-		Ovarian(137;0.0563)	143			F-box.|LRR 5.		B2RE92|Q9UKA0	Silent	SNP	ENST00000409037.1	37	c.429C>A	CCDS32465.1																																																																																				PASS	0.607	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		20	21	20	21	---	---	---	---
GFOD2	81577	broad.mit.edu	37	16	67709359	67709359	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:67709359G>T	ENST00000268797.7	-	3	1202	c.857C>A	c.(856-858)gCa>gAa	p.A286E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	286					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.A286E(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGCGCCCACTGCCAGCGAGTC	0.652																																						uc002eub.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(856-858)GCA>GAA		glucose-fructose oxidoreductase domain							42.0	40.0	41.0					16																	67709359		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709359G>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.857C>A	16.37:g.67709359G>T	ENSP00000268797:p.Ala286Glu					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.A181E	p.A286E	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1152	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	286					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.857C>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.520135	0.00149	.	.	ENSG00000141098	ENST00000268797	T	0.41400	1.0	5.28	4.32	0.51571	.	0.464151	0.21674	N	0.070831	T	0.25901	0.0631	N	0.22421	0.69	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.16571	-1.0398	10	0.02654	T	1	-10.6608	13.6856	0.62513	0.0:0.0:0.7194:0.2806	.	286	Q3B7J2	GFOD2_HUMAN	E	286	ENSP00000268797:A286E	ENSP00000268797:A286E	A	-	2	0	GFOD2	66266860	0.919000	0.31177	0.085000	0.20634	0.012000	0.07955	4.690000	0.61731	1.337000	0.45525	-0.321000	0.08615	GCA		PASS	0.652	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		8	30	8	30	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67760357	67760357	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:67760357C>A	ENST00000317506.3	-	14	1952	c.1837G>T	c.(1837-1839)Gcc>Tcc	p.A613S	RANBP10_ENST00000448631.2_Missense_Mutation_p.A587S|RANBP10_ENST00000411657.2_Missense_Mutation_p.A526S|RANBP10_ENST00000536251.1_Missense_Mutation_p.A384S|RANBP10_ENST00000602677.1_Missense_Mutation_p.A643S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	613					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A613S(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TCAACTCTGGCAAAGGAGCAA	0.637																																						uc002eud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1837-1839)GCC>TCC		RAN binding protein 10							36.0	32.0	33.0					16																	67760357		2197	4300	6497	SO:0001583	missense	57610							g.chr16:67760357C>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1837G>T	16.37:g.67760357C>A	ENSP00000316589:p.Ala613Ser					RANBP10_uc010ceo.2_Missense_Mutation_p.A384S|RANBP10_uc010vju.1_Missense_Mutation_p.A587S|RANBP10_uc010vjv.1_Missense_Mutation_p.A526S	p.A613S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	14	1953	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	613					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1837G>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074391	0.94000	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	6.04	6.04	0.98038	Ran binding protein, CRA domain (1);	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	L	0.56769	1.78	0.80722	D	1	D;D;P	0.69078	0.997;0.994;0.745	D;D;B	0.75020	0.985;0.97;0.222	T	0.74765	-0.3554	9	0.46703	T	0.11	-20.2733	20.1899	0.98228	0.0:1.0:0.0:0.0	.	526;587;613	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	S	613;587;384;526	.	ENSP00000316589:A613S	A	-	1	0	RANBP10	66317858	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.760000	0.85248	2.873000	0.98535	0.563000	0.77884	GCC		PASS	0.637	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		4	10	4	10	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67917564	67917564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:67917564C>T	ENST00000358933.5	+	28	4182	c.3943C>T	c.(3943-3945)Cag>Tag	p.Q1315*	NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q1315*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCGCTCTCCCAGCCTGTGCT	0.602											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(3943-3945)CAG>TAG		autoantigen RCD8							143.0	146.0	145.0					16																	67917564		2198	4300	6498	SO:0001587	stop_gained	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67917564C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3943C>T	16.37:g.67917564C>T	ENSP00000351811:p.Gln1315*		OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.2_Nonsense_Mutation_p.Q934*|EDC4_uc002eus.2_Nonsense_Mutation_p.Q1045*|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	p.Q1315*	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	28	4109	+		Ovarian(137;0.0563)	1315					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	ENST00000358933.5	37	c.3943C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	44	10.941959	0.99492	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7351	19.0455	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000351811:Q1315X	Q	+	1	0	EDC4	66475065	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.595000	0.82710	2.597000	0.87782	0.655000	0.94253	CAG		PASS	0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		58	120	58	120	---	---	---	---
ZNF821	55565	broad.mit.edu	37	16	71898838	71898838	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:71898838G>C	ENST00000565601.1	-	4	687	c.280C>G	c.(280-282)Cct>Gct	p.P94A	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.P52A|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000446827.2_Missense_Mutation_p.P52A|ZNF821_ENST00000425432.1_Missense_Mutation_p.P94A|ZNF821_ENST00000564134.1_Missense_Mutation_p.P94A	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	94					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.P52A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCACCAACAGGCTGTTCTGTA	0.532																																						uc010vmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)CCT>GCT		zinc finger protein 821							323.0	218.0	254.0					16																	71898838		2198	4300	6498	SO:0001583	missense	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71898838G>C	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.280C>G	16.37:g.71898838G>C	ENSP00000455648:p.Pro94Ala					ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Missense_Mutation_p.P52A|ZNF821_uc002fbg.3_Intron|ZNF821_uc002fbh.3_Missense_Mutation_p.P52A|ZNF821_uc002fbi.3_5'UTR	p.P94A	NM_017530	NP_060000	O75541	ZN821_HUMAN			4	656	-			94					A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	c.280C>G	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096517	0.20552	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01484	6.52;4.84;4.84	5.92	3.86	0.44501	.	0.636089	0.16746	N	0.201257	T	0.01189	0.0039	N	0.08118	0	0.30921	N	0.727968	B;B	0.10296	0.001;0.003	B;B	0.13407	0.001;0.009	T	0.31475	-0.9942	10	0.21540	T	0.41	-8.2309	9.1129	0.36739	0.0811:0.0:0.7443:0.1746	.	94;52	B4DKK4;O75541-2	.;.	A	94;52;52	ENSP00000398089:P94A;ENSP00000313822:P52A;ENSP00000405908:P52A	ENSP00000313822:P52A	P	-	1	0	ZNF821	70456339	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.764000	0.38471	1.526000	0.49068	-0.140000	0.14226	CCT		PASS	0.532	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		5	100	5	100	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72832356	72832356	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:72832356C>A	ENST00000268489.5	-	9	4897	c.4225G>T	c.(4225-4227)Gcc>Tcc	p.A1409S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A495S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1409					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A1409S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCTTGAAGGCCAGGCTACAC	0.502																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(4225-4227)GCC>TCC		zinc finger homeobox 3 isoform A							181.0	160.0	167.0					16																	72832356		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832356C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4225G>T	16.37:g.72832356C>A	ENSP00000268489:p.Ala1409Ser					ZFHX3_uc002fcl.2_Missense_Mutation_p.A495S	p.A1409S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	4898	-		Ovarian(137;0.13)	1409			C2H2-type 13.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4225G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431609	0.62844	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.27890	1.64;1.64	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.49916	D	0.000136	T	0.50309	0.1608	L	0.39467	1.215	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.40813	-0.9543	10	0.59425	D	0.04	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	1409	Q15911	ZFHX3_HUMAN	S	1409;495	ENSP00000268489:A1409S;ENSP00000438926:A495S	ENSP00000268489:A1409S	A	-	1	0	ZFHX3	71389857	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GCC		PASS	0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	49	15	49	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74937894	74937894	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:74937894C>A	ENST00000262144.6	-	18	1947	c.1817G>T	c.(1816-1818)cGc>cTc	p.R606L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	606								p.R606L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTTCTCGCTGCGAGTGGGGCT	0.547																																						uc002fdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1816-1818)CGC>CTC		WD repeat domain 59							52.0	49.0	50.0					16																	74937894		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74937894C>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1817G>T	16.37:g.74937894C>A	ENSP00000262144:p.Arg606Leu					WDR59_uc002fdf.1_Missense_Mutation_p.R51L|WDR59_uc002fdg.1_Missense_Mutation_p.R198L	p.R606L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			18	1919	-			606					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1817G>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947824	0.73787	.	.	ENSG00000103091	ENST00000262144	T	0.66638	-0.22	5.64	4.69	0.59074	.	0.049231	0.85682	D	0.000000	T	0.69187	0.3083	L	0.51422	1.61	0.80722	D	1	P;P	0.51933	0.649;0.949	B;P	0.50896	0.253;0.653	T	0.66736	-0.5848	10	0.25751	T	0.34	-22.5215	16.6887	0.85315	0.0:0.8703:0.1297:0.0	.	606;51	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	L	606	ENSP00000262144:R606L	ENSP00000262144:R606L	R	-	2	0	WDR59	73495395	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	6.050000	0.71063	1.374000	0.46228	0.460000	0.39030	CGC		PASS	0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		4	13	4	13	---	---	---	---
CENPN	55839	broad.mit.edu	37	16	81045548	81045548	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:81045548G>A	ENST00000305850.5	+	2	794	c.4G>A	c.(4-6)Gat>Aat	p.D2N	CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.D2N|CENPN_ENST00000393335.3_Missense_Mutation_p.D2N|CENPN_ENST00000439957.3_Missense_Mutation_p.D2N|CENPN_ENST00000428963.2_Missense_Mutation_p.D2N|CENPN_ENST00000569461.1_3'UTR	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	2					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D2N(4)		breast(1)|large_intestine(5)|lung(4)	10						CAAAGAGATGGATGAGACTGT	0.358																																						uc002ffx.2																			4	Substitution - Missense(4)		lung(4)		0						c.(4-6)GAT>AAT		centromere protein N isoform 2							120.0	113.0	115.0					16																	81045548		2203	4300	6503	SO:0001583	missense	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81045548G>A	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.4G>A	16.37:g.81045548G>A	ENSP00000305608:p.Asp2Asn					CENPN_uc002ffw.3_Missense_Mutation_p.D2N|CENPN_uc010vnl.1_Missense_Mutation_p.D2N|CENPN_uc010vnm.1_Missense_Mutation_p.D2N|CENPN_uc002ffy.3_Missense_Mutation_p.D2N	p.D2N	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			2	794	+			2					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	c.4G>A	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950106	0.73787	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.58358	1.38;0.34;0.88;1.28;1.38	5.64	4.67	0.58626	.	0.144833	0.64402	D	0.000012	T	0.70527	0.3234	M	0.70275	2.135	0.44531	D	0.997486	D;D;D;D;D	0.89917	0.998;0.998;0.999;0.998;1.0	P;P;D;P;D	0.71656	0.894;0.903;0.942;0.903;0.974	T	0.74691	-0.3580	10	0.72032	D	0.01	-7.698	14.9941	0.71415	0.0693:0.0:0.9307:0.0	.	2;2;2;2;2	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	N	2	ENSP00000305608:D2N;ENSP00000299572:D2N;ENSP00000395235:D2N;ENSP00000377007:D2N;ENSP00000393991:D2N	ENSP00000299572:D2N	D	+	1	0	CENPN	79603049	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.982000	0.63825	1.358000	0.45922	0.655000	0.94253	GAT		PASS	0.358	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		18	29	18	29	---	---	---	---
SDR42E1	93517	broad.mit.edu	37	16	82033639	82033639	+	Silent	SNP	G	G	T	rs572676726	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr16:82033639G>T	ENST00000328945.5	-	3	386	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	87					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)	p.R87R(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498																																						uc002fgu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CGG>AGG		short chain dehydrogenase/reductase family 42E,							139.0	138.0	138.0					16																	82033639		2009	4183	6192	SO:0001819	synonymous_variant	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033639G>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.259C>A	16.37:g.82033639G>T							p.R87R	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	387	-			87					B2RDS1|Q9P0D1	Silent	SNP	ENST00000328945.5	37	c.259C>A	CCDS42205.1																																																																																				PASS	0.498	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		24	49	24	49	---	---	---	---
YWHAE	7531	broad.mit.edu	37	17	1303366	1303366	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:1303366C>A	ENST00000264335.8	-	1	306	c.39G>T	c.(37-39)ctG>ctT	p.L13L	YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Silent_p.L13L|YWHAE_ENST00000573026.1_Silent_p.L13L|YWHAE_ENST00000498643.1_5'UTR	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	13					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.L13L(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCTGCTCGGCCAGCTTCGCCT	0.657			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.2				Dom	yes		17	17p13.3	7531		"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes		M					2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)	3						c.(37-39)CTG>CTT		tyrosine 3/tryptophan 5 -monooxygenase							70.0	67.0	68.0					17																	1303366		2203	4300	6503	SO:0001819	synonymous_variant	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303366C>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.39G>T	17.37:g.1303366C>A						YWHAE_uc002fsk.2_5'UTR|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	p.L13L	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	1	191	-			13					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Silent	SNP	ENST00000264335.8	37	c.39G>T	CCDS11001.1																																																																																				PASS	0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		19	18	19	18	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1577070	1577070	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:1577070C>A	ENST00000572621.1	-	21	3681	c.3416G>T	c.(3415-3417)cGc>cTc	p.R1139L	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1139L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1139	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R1139L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGGCGCATGCGGGCATCTCG	0.517																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(3415-3417)CGC>CTC		U5 snRNP-specific protein							164.0	152.0	156.0					17																	1577070		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577070C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3416G>T	17.37:g.1577070C>A	ENSP00000460348:p.Arg1139Leu						p.R1139L	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	22	3530	-			1139					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3416G>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736865	0.89482	.	.	ENSG00000174231	ENST00000304992	D	0.84589	-1.87	5.45	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.94847	3.59	0.80722	D	1	D	0.58268	0.982	P	0.54346	0.749	D	0.95002	0.8144	10	0.87932	D	0	.	16.4131	0.83725	0.0:0.8684:0.1316:0.0	.	1139	Q6P2Q9	PRP8_HUMAN	L	1139	ENSP00000304350:R1139L	ENSP00000304350:R1139L	R	-	2	0	PRPF8	1523820	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.647000	0.83462	1.522000	0.49001	0.585000	0.79938	CGC		PASS	0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			12	56	12	56	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727540	7727540	+	Missense_Mutation	SNP	G	G	T	rs147571735	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:7727540G>T	ENST00000572933.1	+	76	13040	c.11580G>T	c.(11578-11580)atG>atT	p.M3860I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M3860I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3860	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M3860I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACATGGGCATGGCCCAGCGCT	0.657																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(11578-11580)ATG>ATT		dynein heavy chain domain 3							57.0	52.0	54.0					17																	7727540		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727540G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11580G>T	17.37:g.7727540G>T	ENSP00000458355:p.Met3860Ile					DNAH2_uc010cnm.1_Missense_Mutation_p.M798I	p.M3860I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			75	11594	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3860			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11580G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634602	0.67130	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08282	3.11	4.9	4.9	0.64082	Dynein heavy chain (1);	0.426630	0.26457	N	0.024261	T	0.08492	0.0211	N	0.25890	0.77	0.80722	D	1	B;B	0.25169	0.057;0.119	B;B	0.32342	0.037;0.144	T	0.35076	-0.9803	10	0.17832	T	0.49	.	16.833	0.85949	0.0:0.0:1.0:0.0	.	3821;3860	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3821;3860	ENSP00000373825:M3860I	ENSP00000353818:M3821I	M	+	3	0	DNAH2	7668265	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.480000	0.81109	2.281000	0.76405	0.407000	0.27541	ATG		PASS	0.657	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		23	12	23	12	---	---	---	---
MFSD6L	162387	broad.mit.edu	37	17	8701217	8701217	+	Missense_Mutation	SNP	C	C	T	rs143056359	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:8701217C>T	ENST00000329805.4	-	1	1450	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	408						integral component of membrane (GO:0016021)		p.A408T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AAGCTGAGGGCGACCGAGAAA	0.562																																						uc002glp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1222-1224)GCC>ACC		major facilitator superfamily domain containing		T	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	87.0	101.0	96.0		1222	2.2	0.0	17	dbSNP_134	96	16,8584	11.9+/-42.8	0,16,4284	yes	missense	MFSD6L	NM_152599.3	58	0,17,6486	TT,TC,CC		0.186,0.0227,0.1307	benign	408/587	8701217	17,12989	2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701217C>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1222G>A	17.37:g.8701217C>T	ENSP00000330051:p.Ala408Thr						p.A408T	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	1370	-			408			Helical; (Potential).		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.1222G>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	c	2.930	-0.221331	0.06061	2.27E-4	0.00186	ENSG00000185156	ENST00000329805	D	0.81739	-1.53	5.4	2.22	0.28083	Major facilitator superfamily domain, general substrate transporter (1);	0.218481	0.36338	N	0.002658	T	0.64918	0.2642	L	0.38175	1.15	0.09310	N	0.999995	P	0.41784	0.762	B	0.35073	0.195	T	0.55717	-0.8097	10	0.11182	T	0.66	-2.1206	10.5782	0.45240	0.0:0.7546:0.0:0.2454	.	408	Q8IWD5	MFS6L_HUMAN	T	408	ENSP00000330051:A408T	ENSP00000330051:A408T	A	-	1	0	MFSD6L	8641942	0.976000	0.34144	0.007000	0.13788	0.050000	0.14768	2.434000	0.44802	0.862000	0.35528	-0.726000	0.03593	GCC		PASS	0.562	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		23	68	23	68	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18148710	18148710	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:18148710C>G	ENST00000327031.4	-	29	3858	c.3633G>C	c.(3631-3633)caG>caC	p.Q1211H	FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.Q1125H|FLII_ENST00000545457.2_Missense_Mutation_p.Q1156H|FLII_ENST00000579294.1_Missense_Mutation_p.Q1200H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1211					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.Q1211H(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTGGCTAGTCTGGGTCCCCA	0.642																																						uc002gsr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3631-3633)CAG>CAC		flightless I homolog							71.0	73.0	72.0					17																	18148710		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148710C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3633G>C	17.37:g.18148710C>G	ENSP00000324573:p.Gln1211His					FLII_uc002gsq.1_Missense_Mutation_p.Q1082H|FLII_uc010cpy.1_Missense_Mutation_p.Q1200H|FLII_uc010vxn.1_Missense_Mutation_p.Q1180H|FLII_uc010vxo.1_Missense_Mutation_p.Q1156H	p.Q1211H	NM_002018	NP_002009	Q13045	FLII_HUMAN			29	3684	-	all_neural(463;0.228)		1211			Gelsolin-like 5.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3633G>C	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952068	0.73787	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.54866	0.55;0.55	5.42	3.43	0.39272	Gelsolin domain (1);	0.258733	0.39544	N	0.001329	T	0.51346	0.1669	N	0.17800	0.525	0.80722	D	1	D;D;B;P	0.67145	0.996;0.996;0.12;0.644	P;P;B;P	0.62014	0.897;0.897;0.087;0.46	T	0.48559	-0.9025	10	0.35671	T	0.21	-26.5621	11.1962	0.48715	0.0:0.8517:0.0:0.1483	.	1125;1125;1211;1180	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	H	1211;1090;1125	ENSP00000324573:Q1211H;ENSP00000368763:Q1125H	ENSP00000324573:Q1211H	Q	-	3	2	FLII	18089435	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.926000	0.48892	1.285000	0.44548	0.655000	0.94253	CAG		PASS	0.642	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		6	56	6	56	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19286527	19286527	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:19286527G>T	ENST00000308406.5	+	7	2820	c.2434G>T	c.(2434-2436)Gac>Tac	p.D812Y	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.D673Y|MAPK7_ENST00000395602.4_Missense_Mutation_p.D812Y|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395604.3_Missense_Mutation_p.D812Y	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	812					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.D812Y(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGACCTGCCTGACCTCCAGGA	0.597																																						uc002gvn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(2434-2436)GAC>TAC		mitogen-activated protein kinase 7 isoform 1							53.0	50.0	51.0					17																	19286527		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19286527G>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2434G>T	17.37:g.19286527G>T	ENSP00000311005:p.Asp812Tyr					MAPK7_uc002gvo.2_Missense_Mutation_p.D673Y|MAPK7_uc002gvq.2_Missense_Mutation_p.D812Y|MAPK7_uc002gvp.2_Missense_Mutation_p.D812Y|uc010vyt.1_5'Flank	p.D812Y	NM_139033	NP_620602	Q13164	MK07_HUMAN			7	2820	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		812					Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2434G>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478568	0.63849	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.79033	-0.99;-1.23;-0.99;-0.99	4.91	4.91	0.64330	.	0.176470	0.37955	N	0.001871	T	0.73305	0.3570	L	0.47716	1.5	0.30480	N	0.772496	B	0.19445	0.036	B	0.21360	0.034	T	0.74191	-0.3745	10	0.87932	D	0	-13.1002	15.6104	0.76713	0.0:0.0:1.0:0.0	.	812	Q13164	MK07_HUMAN	Y	812;673;812;812	ENSP00000311005:D812Y;ENSP00000299612:D673Y;ENSP00000378968:D812Y;ENSP00000378966:D812Y	ENSP00000299612:D673Y	D	+	1	0	MAPK7	19227120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.715000	0.61909	2.269000	0.75478	0.491000	0.48974	GAC		PASS	0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		7	24	7	24	---	---	---	---
ALDH3A1	218	broad.mit.edu	37	17	19648346	19648346	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:19648346G>T	ENST00000457500.2	-	1	426	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.L33M|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.L33M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.L33M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	33					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.L33M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		AGGCGCTGCAGCGCCTCCAGC	0.706																																						uc010cqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(97-99)CTG>ATG		aldehyde dehydrogenase 3A1	NADH(DB00157)						8.0	10.0	9.0					17																	19648346		2065	4075	6140	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19648346G>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.97C>A	17.37:g.19648346G>T	ENSP00000411821:p.Leu33Met					ALDH3A1_uc010vzd.1_Missense_Mutation_p.L33M|ALDH3A1_uc002gwj.2_Missense_Mutation_p.L33M|ALDH3A1_uc010cqv.2_Missense_Mutation_p.L33M|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank	p.L33M	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	1	427	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		33					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.97C>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	g	18.71	3.683045	0.68157	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000439102;ENST00000426645	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.41	2.33	0.28932	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	D	0.84759	0.5543	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.68039	0.955;0.955	T	0.81453	-0.0926	9	0.56958	D	0.05	.	5.209	0.15307	0.1782:0.0:0.66:0.1618	.	33;33	A8K828;P30838	.;AL3A1_HUMAN	M	33;33;91;33;33;33;33	ENSP00000225740:L33M;ENSP00000378923:L33M;ENSP00000388469:L33M;ENSP00000411821:L33M;ENSP00000389766:L33M;ENSP00000388369:L33M	ENSP00000225740:L33M	L	-	1	2	ALDH3A1	19588938	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.837000	0.39201	0.293000	0.22520	0.461000	0.40582	CTG		PASS	0.706	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		4	3	4	3	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28758837	28758837	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:28758837G>T	ENST00000225719.4	+	8	2141	c.2065G>T	c.(2065-2067)Gcc>Tcc	p.A689S	CPD_ENST00000543464.2_Missense_Mutation_p.A442S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	689	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.A689S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACAAGGACTTGCCACATATAG	0.338																																						uc002hfb.1																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(2065-2067)GCC>TCC		carboxypeptidase D precursor							162.0	140.0	147.0					17																	28758837		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28758837G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2065G>T	17.37:g.28758837G>T	ENSP00000225719:p.Ala689Ser					CPD_uc010wbo.1_Missense_Mutation_p.A442S|CPD_uc010wbp.1_RNA	p.A689S	NM_001304	NP_001295	O75976	CBPD_HUMAN			8	2080	+			689			Extracellular (Potential).|Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2065G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667433	0.29604	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.18174	2.23;3.32	5.51	3.41	0.39046	Peptidase M14, carboxypeptidase A (2);	0.434585	0.21612	U	0.071767	T	0.04998	0.0134	N	0.01679	-0.765	0.22096	N	0.999366	B;B	0.09022	0.002;0.002	B;B	0.20384	0.029;0.009	T	0.42832	-0.9428	10	0.13108	T	0.6	.	6.2176	0.20663	0.0755:0.1332:0.654:0.1373	.	442;689	F5GZH6;O75976	.;CBPD_HUMAN	S	689;442	ENSP00000225719:A689S;ENSP00000444443:A442S	ENSP00000225719:A689S	A	+	1	0	CPD	25782963	0.689000	0.27690	0.989000	0.46669	0.963000	0.63663	2.273000	0.43381	2.576000	0.86940	0.563000	0.77884	GCC		PASS	0.338	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		25	22	25	22	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29670025	29670025	+	Splice_Site	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:29670025A>G	ENST00000358273.4	+	48	7445		c.e48-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000444181.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATCTTTAATAGAGTCCAGAG	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(5)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CS076640	NF1	S		c.e48-2		neurofibromin isoform 1							85.0	89.0	88.0					17																	29670025		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29670025A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7063-1A>G	17.37:g.29670025A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Splice_Site_p.S2334_splice|NF1_uc010cso.2_Splice_Site_p.S543_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site	p.S2355_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	48	7396	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.7063_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229831	0.79688	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6743	0.77303	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26694151	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.534000	0.90620	2.115000	0.64714	0.460000	0.39030	.		PASS	0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	21	16	21	16	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34190043	34190043	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:34190043G>T	ENST00000311880.2	-	8	860	c.712C>A	c.(712-714)Cta>Ata	p.L238I	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.L198I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		238					hematopoietic progenitor cell differentiation (GO:0002244)			p.L238I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCATTCGTAGCCCCGTCAAA	0.498																																						uc002hke.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(712-714)CTA>ATA		hypothetical protein LOC256957							175.0	164.0	168.0					17																	34190043		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34190043G>T																												ENST00000311880.2:c.712C>A	17.37:g.34190043G>T	ENSP00000309560:p.Leu238Ile					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.L198I|C17orf66_uc010wcm.1_Missense_Mutation_p.L204I	p.L238I	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	8	861	-		Ovarian(249;0.17)	238					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.712C>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700761	0.48307	.	.	ENSG00000172653	ENST00000311880	T	0.59364	0.27	5.17	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.38058	N	0.001826	T	0.62502	0.2433	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.987	T	0.52260	-0.8599	10	0.44086	T	0.13	.	9.2426	0.37506	0.0971:0.0:0.9029:0.0	.	204;198;238	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	238	ENSP00000309560:L238I	ENSP00000309560:L238I	L	-	1	2	C17orf66	31214156	0.755000	0.28372	0.048000	0.18961	0.665000	0.39181	1.931000	0.40134	1.399000	0.46721	0.655000	0.94253	CTA		PASS	0.498	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			3	62	3	62	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34935839	34935839	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:34935839A>T	ENST00000304718.4	+	8	1326	c.1010A>T	c.(1009-1011)aAg>aTg	p.K337M		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	337					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.K337M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCTTTACGCAAGAGTTTTGAG	0.433																																						uc002hnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1009-1011)AAG>ATG		zinc finger protein 403							127.0	120.0	122.0					17																	34935839		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34935839A>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1010A>T	17.37:g.34935839A>T	ENSP00000307617:p.Lys337Met					GGNBP2_uc002hna.2_Missense_Mutation_p.K337M|GGNBP2_uc002hnc.1_Missense_Mutation_p.K166M	p.K337M	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	8	1259	+		Breast(25;0.00957)|Ovarian(249;0.17)	337					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1010A>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213617	0.79352	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.66	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.964	T	0.66372	-0.5940	9	0.87932	D	0	-13.8574	12.1449	0.54018	0.8721:0.0:0.0:0.1279	.	337;337;337	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	M	337	.	ENSP00000307617:K337M	K	+	2	0	GGNBP2	32009952	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.621000	0.67743	2.153000	0.67306	0.377000	0.23210	AAG		PASS	0.433	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		31	34	31	34	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37563746	37563746	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:37563746C>A	ENST00000300651.6	-	17	4951	c.4728G>T	c.(4726-4728)gtG>gtT	p.V1576V	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.V1576V(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAATCAGGGCCACATCCATAA	0.423										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4726-4728)GTG>GTT		mediator complex subunit 1							95.0	89.0	91.0					17																	37563746		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563746C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4728G>T	17.37:g.37563746C>A		HNSCC(31;0.082)				MED1_uc010wee.1_Silent_p.V1404V|MED1_uc002hru.2_Intron	p.V1576V	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4940	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1576					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.4728G>T	CCDS11336.1																																																																																				PASS	0.423	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		23	22	23	22	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39768836	39768836	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:39768836C>A	ENST00000301653.4	-	1	169	c.105G>T	c.(103-105)ctG>ctT	p.L35L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	35	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L35L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ACCCTCCGGCCAGGACGGAGG	0.721																																						uc002hxg.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(103-105)CTG>CTT		keratin 16							10.0	13.0	12.0					17																	39768836		2179	4254	6433	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768836C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.105G>T	17.37:g.39768836C>A						JUP_uc010wfs.1_Intron	p.L35L	NM_005557	NP_005548	P08779	K1C16_HUMAN			1	244	-		Breast(137;0.000307)	35			Head.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.105G>T	CCDS11401.1																																																																																				PASS	0.721	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		5	3	5	3	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41063047	41063047	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:41063047G>T	ENST00000253801.2	+	5	757	c.678G>T	c.(676-678)ctG>ctT	p.L226L	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	226					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.L226L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTTATCTGCTGCTCAAGGGAC	0.498																																						uc002icb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(676-678)CTG>CTT		glucose-6-phosphatase, catalytic subunit							98.0	81.0	87.0					17																	41063047		2203	4300	6503	SO:0001819	synonymous_variant	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063047G>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.678G>T	17.37:g.41063047G>T						G6PC_uc010whf.1_3'UTR	p.L226L	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	757	+		Breast(137;0.000143)	226			Helical; (Potential).		A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	37	c.678G>T	CCDS11446.1																																																																																				PASS	0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		18	19	18	19	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42330535	42330535	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:42330535C>A	ENST00000262418.6	-	17	2417	c.2262G>T	c.(2260-2262)caG>caT	p.Q754H		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	754	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q754H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTTTGACCTCCTGGATCTGGG	0.642																																						uc002igf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2260-2262)CAG>CAT		solute carrier family 4, anion exchanger, member							71.0	65.0	67.0					17																	42330535		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42330535C>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2262G>T	17.37:g.42330535C>A	ENSP00000262418:p.Gln754His						p.Q754H	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	17	2411	-		Breast(137;0.014)|Prostate(33;0.0181)	754			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2262G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286507	0.59867	.	.	ENSG00000004939	ENST00000262418	T	0.79352	-1.26	4.54	1.32	0.21799	Bicarbonate transporter, C-terminal (1);	0.233371	0.39146	N	0.001447	D	0.83069	0.5174	M	0.77103	2.36	0.36221	D	0.852	D	0.61697	0.99	D	0.63033	0.91	T	0.82606	-0.0374	10	0.66056	D	0.02	.	5.7706	0.18251	0.0:0.6091:0.1412:0.2497	.	754	P02730	B3AT_HUMAN	H	754	ENSP00000262418:Q754H	ENSP00000262418:Q754H	Q	-	3	2	SLC4A1	39686061	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.633000	0.37113	0.103000	0.17682	0.561000	0.74099	CAG		PASS	0.642	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		18	17	18	17	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42475217	42475217	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:42475217G>T	ENST00000591680.1	-	8	4258	c.4228C>A	c.(4228-4230)Cag>Aag	p.Q1410K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.Q1332K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1410							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q1410K(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGATGGGGCTGGGGAATATGA	0.582																																						uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(4228-4230)CAG>AAG		G patch domain containing 8							89.0	81.0	84.0					17																	42475217		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475217G>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4228C>A	17.37:g.42475217G>T	ENSP00000467556:p.Gln1410Lys					GPATCH8_uc002igv.1_Missense_Mutation_p.Q1332K|GPATCH8_uc010wiz.1_Missense_Mutation_p.Q1332K	p.Q1410K	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4292	-		Prostate(33;0.0181)	1410					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4228C>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600408	0.66332	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15487	2.42	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	M	0.62723	1.935	0.58432	D	0.999997	D	0.63880	0.993	D	0.70935	0.971	T	0.07328	-1.0778	10	0.38643	T	0.18	-11.8783	17.9984	0.89191	0.0:0.0:1.0:0.0	.	1410	Q9UKJ3	GPTC8_HUMAN	K	1410;1332	ENSP00000395016:Q1332K	ENSP00000335486:Q1410K	Q	-	1	0	GPATCH8	39830743	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.430000	0.97488	2.338000	0.79540	0.313000	0.20887	CAG		PASS	0.582	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	8	7	8	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61902031	61902031	+	5'Flank	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:61902031G>C	ENST00000310144.6	+	0	0				FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.Q295E	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.Q295E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CTGATGTCCTGACAGCACACC	0.572																																						uc002jbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)CAG>GAG		FtsJ homolog 3							205.0	184.0	191.0					17																	61902031		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902031G>C	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902031G>C	Exception_encountered					FTSJ3_uc002jca.2_Missense_Mutation_p.Q295E|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	p.Q295E	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			9	961	-			295					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.883C>G	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295142	0.60086	.	.	ENSG00000108592	ENST00000427159	T	0.26810	1.71	5.18	5.18	0.71444	Ribosomal RNA methyltransferase Spb1, domain of unknown function DUF3381 (1);	0.127647	0.56097	D	0.000036	T	0.14356	0.0347	N	0.05158	-0.105	0.31955	N	0.609135	P	0.38020	0.615	B	0.41988	0.372	T	0.04961	-1.0915	10	0.08381	T	0.77	-27.9872	14.0682	0.64844	0.0:0.0:1.0:0.0	.	295	Q8IY81	RRMJ3_HUMAN	E	295	ENSP00000396673:Q295E	ENSP00000396673:Q295E	Q	-	1	0	FTSJ3	59255763	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.961000	0.49168	2.697000	0.92050	0.655000	0.94253	CAG		PASS	0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		49	44	49	44	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62272361	62272361	+	Missense_Mutation	SNP	C	C	A	rs566517528		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:62272361C>A	ENST00000583097.1	-	3	1911	c.1739G>T	c.(1738-1740)aGa>aTa	p.R580I	TEX2_ENST00000258991.3_Missense_Mutation_p.R580I|TEX2_ENST00000584379.1_Missense_Mutation_p.R580I			Q8IWB9	TEX2_HUMAN	testis expressed 2	580					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.R580I(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTTGAAAGTCTTAAGGTTCC	0.438																																						uc002jec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1738-1740)AGA>ATA		testis expressed sequence 2							131.0	118.0	122.0					17																	62272361		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272361C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1739G>T	17.37:g.62272361C>A	ENSP00000462665:p.Arg580Ile					TEX2_uc002jed.2_Missense_Mutation_p.R580I|TEX2_uc002jee.2_Missense_Mutation_p.R580I	p.R580I	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1912	-			580					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1739G>T		.	.	.	.	.	.	.	.	.	.	C	18.08	3.542915	0.65198	.	.	ENSG00000136478	ENST00000258991	T	0.56275	0.47	6.07	6.07	0.98685	Pleckstrin homology domain (1);	0.096913	0.64402	D	0.000001	T	0.75436	0.3849	M	0.79123	2.44	0.80722	D	1	D;P	0.71674	0.998;0.792	D;P	0.74674	0.984;0.488	T	0.76162	-0.3060	10	0.87932	D	0	-22.4135	20.6593	0.99626	0.0:1.0:0.0:0.0	.	580;580	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	I	580	ENSP00000258991:R580I	ENSP00000258991:R580I	R	-	2	0	TEX2	59626093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.381000	0.79718	2.885000	0.99019	0.655000	0.94253	AGA		PASS	0.438	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		22	27	22	27	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267059	66267059	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:66267059G>T	ENST00000327268.4	-	6	1406	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.G414G	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	414					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.G414G(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TCTTCTCAATGCCCACGACAT	0.453																																						uc002jgz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1240-1242)GGC>GGA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						104.0	91.0	95.0					17																	66267059		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267059G>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1242C>A	17.37:g.66267059G>T						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.G414G	p.G414G	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1430	-	all_cancers(12;1.24e-09)		414			Cytoplasmic (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.1242C>A	CCDS11675.1																																																																																				PASS	0.453	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		6	49	6	49	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368028	72368028	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:72368028G>T	ENST00000335666.4	+	4	726	c.678G>T	c.(676-678)gtG>gtT	p.V226V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	226						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V226V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCGCCAGGTGCCCCAGGCTG	0.627																																						uc010wqy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(676-678)GTG>GTT		G protein-coupled receptor 142							69.0	54.0	59.0					17																	72368028		2202	4300	6502	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368028G>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.678G>T	17.37:g.72368028G>T						GPR142_uc010wqx.1_Silent_p.V138V	p.V226V	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	678	+			226			Extracellular (Potential).		A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.678G>T	CCDS11698.1																																																																																				PASS	0.627	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		13	7	13	7	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78681766	78681766	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:78681766C>A	ENST00000306801.3	+	4	836	c.474C>A	c.(472-474)ccC>ccA	p.P158P	RPTOR_ENST00000544334.2_Silent_p.P158P|RPTOR_ENST00000570891.1_Silent_p.P158P|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	158					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.P158P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGCCCCGGCCCACAGTCAACG	0.582																																						uc002jyt.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(472-474)CCC>CCA		raptor isoform 1							53.0	51.0	52.0					17																	78681766		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78681766C>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.474C>A	17.37:g.78681766C>A						RPTOR_uc002jys.2_Silent_p.P158P|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.P158P	p.P158P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			4	1279	+			158					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.474C>A	CCDS11773.1																																																																																				PASS	0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		4	5	4	5	---	---	---	---
ALYREF	10189	broad.mit.edu	37	17	79846200	79846200	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:79846200T>C	ENST00000331204.4	-	5	702	c.676A>G	c.(676-678)Aga>Gga	p.R226G	ALYREF_ENST00000512673.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.R233G|ANAPC11_ENST00000571570.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	226	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R226G(1)									CCTCTGCCTCTTCCACGGGCG	0.627																																						uc002kbu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)AGA>GGA		THO complex 4							28.0	30.0	29.0					17																	79846200		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79846200T>C	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.676A>G	17.37:g.79846200T>C	ENSP00000331817:p.Arg226Gly						p.R233G	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	703	-	all_neural(118;0.0878)|Ovarian(332;0.12)		226			Ala/Arg/Gly-rich.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.697A>G		.	.	.	.	.	.	.	.	.	.	T	7.371	0.626897	0.14257	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.64803	-0.12;-0.12	5.43	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.71296	2.17	0.37419	D	0.913579	B	0.19583	0.037	B	0.21917	0.037	T	0.55749	-0.8092	10	0.07030	T	0.85	.	14.4603	0.67445	0.0:0.0:0.4776:0.5224	.	233	E9PB61	.	G	226;233	ENSP00000331817:R226G;ENSP00000421592:R233G	ENSP00000331817:R226G	R	-	1	2	THOC4	77439496	0.873000	0.30073	1.000000	0.80357	0.985000	0.73830	0.211000	0.17474	0.484000	0.27630	0.533000	0.62120	AGA		PASS	0.627	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		7	10	7	10	---	---	---	---
NARF	26502	broad.mit.edu	37	17	80445995	80445995	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr17:80445995C>A	ENST00000309794.11	+	11	1531	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	NARF_ENST00000457415.3_Missense_Mutation_p.Q491K|NARF_ENST00000345415.7_Missense_Mutation_p.Q397K|NARF_ENST00000390006.4_Missense_Mutation_p.Q386K	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	445						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.Q491K(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTACCAGAGCCAGGAGCGTGG	0.622																																						uc002kfg.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1333-1335)CAG>AAG		nuclear prelamin A recognition factor isoform a							78.0	67.0	71.0					17																	80445995		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80445995C>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1333C>A	17.37:g.80445995C>A	ENSP00000309899:p.Gln445Lys					NARF_uc002kff.3_Missense_Mutation_p.Q386K|NARF_uc010dit.2_Missense_Mutation_p.Q491K|NARF_uc002kfj.3_Missense_Mutation_p.Q397K|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.Q491K|NARF_uc002kfk.2_RNA	p.Q445K	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		11	1473	+	Breast(20;0.00106)|all_neural(118;0.0804)		445					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.1333C>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.393456	0.25205	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.39406	1.08;1.08;1.08	5.58	2.39	0.29439	Iron hydrogenase, small subunit-like (3);	0.736229	0.14072	N	0.343284	T	0.20659	0.0497	N	0.11560	0.145	0.19945	N	0.999945	B;B;B;B	0.26672	0.129;0.076;0.156;0.093	B;B;B;B	0.31101	0.098;0.076;0.124;0.079	T	0.25779	-1.0122	10	0.02654	T	1	-23.1961	9.8287	0.40928	0.0:0.5231:0.3821:0.0949	.	491;397;492;445	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	K	386;492;445;397	ENSP00000374656:Q386K;ENSP00000309899:Q445K;ENSP00000283996:Q397K	ENSP00000309899:Q445K	Q	+	1	0	NARF	78039284	0.000000	0.05858	0.016000	0.15963	0.117000	0.20001	-0.628000	0.05515	0.685000	0.31468	0.650000	0.86243	CAG		PASS	0.622	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		4	50	4	50	---	---	---	---
ZBTB14	7541	broad.mit.edu	37	18	5291962	5291962	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:5291962C>T	ENST00000357006.4	-	4	583	c.245G>A	c.(244-246)cGt>cAt	p.R82H	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R82H	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R82H(1)									TATATCAGAACGAAGAAAATC	0.373																																						uc002kmq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)CGT>CAT		zinc finger protein 161 homolog							89.0	94.0	93.0					18																	5291962		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291962C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.245G>A	18.37:g.5291962C>T	ENSP00000349503:p.Arg82His					ZFP161_uc002kmr.2_Missense_Mutation_p.R82H|ZFP161_uc010dkp.2_Missense_Mutation_p.R82H	p.R82H	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	406	-			82			BTB.		O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.245G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587468	0.86851	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.70631	-0.5;-0.5	6.07	6.07	0.98685	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	L	0.31664	0.95	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.79317	-0.1853	10	0.66056	D	0.02	-20.3421	20.6439	0.99570	0.0:1.0:0.0:0.0	.	82	O43829	ZF161_HUMAN	H	82	ENSP00000349503:R82H;ENSP00000383009:R82H	ENSP00000349503:R82H	R	-	2	0	ZFP161	5281962	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.770000	0.85390	2.884000	0.98904	0.655000	0.94253	CGT		PASS	0.373	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		5	66	5	66	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6961946	6961946	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:6961946C>T	ENST00000389658.3	-	52	7543	c.7450G>A	c.(7450-7452)Gag>Aag	p.E2484K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2484					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E2484K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTTCCTACCTCCAGTAAACAG	0.378																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7450-7452)GAG>AAG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	128.0	127.0					18																	6961946		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961946C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7450G>A	18.37:g.6961946C>T	ENSP00000374309:p.Glu2484Lys					LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.E1960K	p.E2484K	NM_005559	NP_005550	P25391	LAMA1_HUMAN			52	7544	-		Colorectal(10;0.172)	2484						Missense_Mutation	SNP	ENST00000389658.3	37	c.7450G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706638	0.30232	.	.	ENSG00000101680	ENST00000389658	T	0.79845	-1.31	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.196946	0.41823	D	0.000802	T	0.77370	0.4120	M	0.64404	1.975	0.50039	D	0.999846	B	0.25390	0.125	B	0.27170	0.077	T	0.71108	-0.4688	10	0.11182	T	0.66	.	15.4336	0.75125	0.0:0.8618:0.1382:0.0	.	2484	P25391	LAMA1_HUMAN	K	2484	ENSP00000374309:E2484K	ENSP00000374309:E2484K	E	-	1	0	LAMA1	6951946	1.000000	0.71417	0.997000	0.53966	0.073000	0.16967	2.458000	0.45014	2.725000	0.93324	0.655000	0.94253	GAG		PASS	0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		28	76	28	76	---	---	---	---
CHMP1B	57132	broad.mit.edu	37	18	11851718	11851718	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:11851718G>T	ENST00000526991.2	+	1	324	c.208G>T	c.(208-210)Gcg>Tcg	p.A70S	RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	70					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.A70S(2)		endometrium(1)|lung(1)|urinary_tract(1)	3						GAGAATGAGTGCGCGAGTCGA	0.542																																						uc002kqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)GCG>TCG		chromatin modifying protein 1B							83.0	93.0	90.0					18																	11851718		2154	4261	6415	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11851718G>T	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.208G>T	18.37:g.11851718G>T	ENSP00000432279:p.Ala70Ser					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.A70S	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	330	+			70					Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.208G>T	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921819	0.17982	.	.	ENSG00000255112	ENST00000526991	T	0.72394	-0.65	5.6	4.73	0.59995	.	.	.	.	.	T	0.43787	0.1263	N	0.03224	-0.385	0.58432	D	0.999999	B	0.11235	0.004	B	0.19391	0.025	T	0.43294	-0.9400	9	0.02654	T	1	.	12.824	0.57708	0.0798:0.0:0.9202:0.0	.	70	Q7LBR1	CHM1B_HUMAN	S	70	ENSP00000432279:A70S	ENSP00000432279:A70S	A	+	1	0	CHMP1B	11841718	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	6.226000	0.72277	1.510000	0.48803	0.655000	0.94253	GCG		PASS	0.542	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		9	44	9	44	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21534555	21534555	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:21534555C>A	ENST00000313654.9	+	75	10186	c.9945C>A	c.(9943-9945)gtC>gtA	p.V3315V	LAMA3_ENST00000269217.6_Silent_p.V1706V|LAMA3_ENST00000399516.3_Silent_p.V3259V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.V1650V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3315	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.V3315V(1)|p.V1706V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTGTCCCTGTCACTGAAGCCT	0.468																																						uc002kuq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(9943-9945)GTC>GTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						138.0	124.0	129.0					18																	21534555		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21534555C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9945C>A	18.37:g.21534555C>A						LAMA3_uc002kur.2_Silent_p.V3259V|LAMA3_uc002kus.3_Silent_p.V1706V|LAMA3_uc002kut.3_Silent_p.V1650V	p.V3315V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			75	10031	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		3315			Laminin G-like 5.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.9945C>A	CCDS42419.1																																																																																				PASS	0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		15	46	15	46	---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23866021	23866021	+	Missense_Mutation	SNP	C	C	A	rs201966876	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:23866021C>A	ENST00000269142.5	+	7	2146	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	TAF4B_ENST00000578121.1_Missense_Mutation_p.S383Y|TAF4B_ENST00000400466.2_Missense_Mutation_p.S383Y	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	383					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S383Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATTATTGTTTCTGGAGCAACA	0.468																																						uc002kvu.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(1147-1149)TCT>TAT		TAF4b RNA polymerase II, TATA box binding							99.0	95.0	96.0					18																	23866021		1921	4135	6056	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866021C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1148C>A	18.37:g.23866021C>A	ENSP00000269142:p.Ser383Tyr					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S383Y	p.S383Y	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	1637	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		383					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1148C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.389796	0.25118	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26518	1.73;1.78;1.73	5.72	5.72	0.89469	.	0.335616	0.32868	N	0.005554	T	0.36744	0.0978	L	0.27053	0.805	0.28523	N	0.912974	D;D	0.76494	0.976;0.999	P;P	0.60789	0.459;0.879	T	0.16660	-1.0395	10	0.72032	D	0.01	-4.9832	17.6508	0.88163	0.0:1.0:0.0:0.0	.	383;383	Q92750;A4PBF7	TAF4B_HUMAN;.	Y	383	ENSP00000389365:S383Y;ENSP00000269142:S383Y;ENSP00000383314:S383Y	ENSP00000269142:S383Y	S	+	2	0	TAF4B	22120019	0.158000	0.22850	0.842000	0.33263	0.532000	0.34746	2.973000	0.49264	2.705000	0.92388	0.558000	0.71614	TCT		PASS	0.468	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		20	71	20	71	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25570062	25570062	+	Splice_Site	SNP	T	T	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:25570062T>C	ENST00000269141.3	-	10	2020	c.1597A>G	c.(1597-1599)Aga>Gga	p.R533G	CDH2_ENST00000399380.3_Splice_Site_p.R502G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	533	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R533G(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTTCATACCTAATATTTTGC	0.363																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1597-1599)AGA>GGA		cadherin 2, type 1 preproprotein							143.0	127.0	132.0					18																	25570062		2203	4300	6503	SO:0001630	splice_region_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570062T>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1598+1A>G	18.37:g.25570062T>C						CDH2_uc010xbn.1_Missense_Mutation_p.R502G	p.R533G	NM_001792	NP_001783	P19022	CADH2_HUMAN			10	2056	-			533			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1597A>G	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743104	0.69418	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.54279	0.58;0.58	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	0.084638	0.85682	D	0.000000	T	0.70272	0.3205	M	0.93720	3.45	0.58432	D	0.999996	P;P	0.45531	0.86;0.689	P;B	0.45753	0.492;0.199	T	0.78828	-0.2050	10	0.66056	D	0.02	.	16.4795	0.84153	0.0:0.0:0.0:1.0	.	502;533	A8MWK3;P19022	.;CADH2_HUMAN	G	533;502	ENSP00000269141:R533G;ENSP00000382312:R502G	ENSP00000269141:R533G	R	-	1	2	CDH2	23824060	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.642000	0.61383	2.367000	0.80283	0.528000	0.53228	AGA		PASS	0.363	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	Missense_Mutation	22	63	22	63	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28918392	28918392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:28918392C>A	ENST00000257192.4	+	10	1592	c.1380C>A	c.(1378-1380)taC>taA	p.Y460*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	460	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.Y460*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGGAAAATACCAAGGAACGA	0.318																																						uc002kwp.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1378-1380)TAC>TAA		desmoglein 1 preproprotein							86.0	87.0	87.0					18																	28918392		2203	4299	6502	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28918392C>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1380C>A	18.37:g.28918392C>A	ENSP00000257192:p.Tyr460*						p.Y460*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		10	1592	+			460			Extracellular (Potential).|Cadherin 4.		B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.1380C>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.917585	0.97932	.	.	ENSG00000134760	ENST00000257192	.	.	.	5.87	0.555	0.17247	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7201	0.40297	0.0:0.4744:0.0:0.5255	.	.	.	.	X	460	.	ENSP00000257192:Y460X	Y	+	3	2	DSG1	27172390	0.110000	0.22057	0.990000	0.47175	0.902000	0.53008	0.188000	0.17018	0.168000	0.19655	0.655000	0.94253	TAC		PASS	0.318	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		15	60	15	60	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28972210	28972210	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:28972210G>T	ENST00000308128.4	+	8	1047	c.912G>T	c.(910-912)ttG>ttT	p.L304F	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L304F|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	304	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L304F(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATAACTGGTTGGCTCAATATT	0.363																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(910-912)TTG>TTT		desmoglein 4 isoform 2 preproprotein							116.0	114.0	115.0					18																	28972210		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28972210G>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.912G>T	18.37:g.28972210G>T	ENSP00000311859:p.Leu304Phe					DSG4_uc002kwr.2_Missense_Mutation_p.L304F	p.L304F	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		8	1047	+			304		Missing (in LAH1).	Cadherin 3.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.912G>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385948	0.61956	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52526	0.66;0.66	5.17	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.27460	N	0.019262	T	0.65863	0.2732	M	0.93197	3.39	0.41988	D	0.99083	P;P	0.41978	0.767;0.73	P;P	0.50860	0.535;0.652	T	0.70226	-0.4930	10	0.59425	D	0.04	.	7.2599	0.26197	0.1568:0.0:0.7075:0.1357	.	304;304	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	304	ENSP00000311859:L304F;ENSP00000352785:L304F	ENSP00000311859:L304F	L	+	3	2	DSG4	27226208	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.378000	0.34328	1.242000	0.43836	0.650000	0.86243	TTG		PASS	0.363	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		17	46	17	46	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29055916	29055916	+	Missense_Mutation	SNP	G	G	T	rs147711163	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:29055916G>T	ENST00000257189.4	+	16	2776	c.2693G>T	c.(2692-2694)tGc>tTc	p.C898F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	898					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C898F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTGTTAAGTGCCAGACTTTG	0.507																																						uc002kws.2																			1	Substitution - Missense(1)	p.C898G(1)	lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2692-2694)TGC>TTC		desmoglein 3 preproprotein							126.0	123.0	124.0					18																	29055916		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055916G>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2693G>T	18.37:g.29055916G>T	ENSP00000257189:p.Cys898Phe					DSG3_uc002kwt.2_Missense_Mutation_p.C180F	p.C898F	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2802	+			898			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2693G>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	3.209	-0.161947	0.06502	.	.	ENSG00000134757	ENST00000257189	T	0.58797	0.31	5.54	-3.42	0.04825	.	0.623245	0.15000	N	0.286190	T	0.33644	0.0870	N	0.14661	0.345	0.23598	N	0.997329	B	0.18741	0.03	B	0.15484	0.013	T	0.25187	-1.0139	10	0.10636	T	0.68	.	14.5647	0.68168	0.6659:0.0:0.3341:0.0	.	898	P32926	DSG3_HUMAN	F	898	ENSP00000257189:C898F	ENSP00000257189:C898F	C	+	2	0	DSG3	27309914	0.038000	0.19896	0.011000	0.14972	0.246000	0.25737	0.055000	0.14229	-0.668000	0.05296	-0.150000	0.13652	TGC		PASS	0.507	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		10	51	10	51	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29056145	29056145	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:29056145C>A	ENST00000257189.4	+	16	3005	c.2922C>A	c.(2920-2922)ggC>ggA	p.G974G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	974					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G974G(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGTTCCTGGCAACCTAGCTG	0.502																																						uc002kws.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2920-2922)GGC>GGA		desmoglein 3 preproprotein							136.0	125.0	129.0					18																	29056145		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29056145C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2922C>A	18.37:g.29056145C>A						DSG3_uc002kwt.2_Silent_p.G256G	p.G974G	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3031	+			974			Cytoplasmic (Potential).		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2922C>A	CCDS11898.1																																																																																				PASS	0.502	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		21	76	21	76	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33263508	33263508	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:33263508G>T	ENST00000269195.5	+	4	738	c.635G>T	c.(634-636)tGt>tTt	p.C212F	GALNT1_ENST00000537549.1_Missense_Mutation_p.C152F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	212	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C212F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GATGCCCATTGTGAGTGTACA	0.443																																						uc010dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(634-636)TGT>TTT		polypeptide N-acetylgalactosaminyltransferase 1							105.0	101.0	102.0					18																	33263508		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33263508G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.635G>T	18.37:g.33263508G>T	ENSP00000269195:p.Cys212Phe					GALNT1_uc002kyz.3_Missense_Mutation_p.C152F|GALNT1_uc002kzb.2_Missense_Mutation_p.C212F	p.C212F	NM_020474	NP_065207	Q10472	GALT1_HUMAN			5	688	+			212			Lumenal (Potential).|Catalytic subdomain A.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.635G>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340352	0.81911	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.59364	0.27;0.27	5.02	5.02	0.67125	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90599	0.4543	10	0.87932	D	0	.	16.1969	0.82036	0.0:0.0:1.0:0.0	.	212	Q10472	GALT1_HUMAN	F	212;212;152	ENSP00000269195:C212F;ENSP00000440910:C152F	ENSP00000269195:C212F	C	+	2	0	GALNT1	31517506	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.566000	0.98157	2.473000	0.83533	0.591000	0.81541	TGT		PASS	0.443	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		5	27	5	27	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34839189	34839189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:34839189G>A	ENST00000591282.1	-	11	1287	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	CELF4_ENST00000588597.1_Nonsense_Mutation_p.Q418*|CELF4_ENST00000420428.2_Nonsense_Mutation_p.Q430*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.Q428*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.Q428*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.Q428*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.Q429*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.Q429*|CELF4_ENST00000334919.5_Intron			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	430	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.Q430*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCAAACTCCTGGGGCAGATGG	0.587																																						uc002lae.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1288-1290)CAG>TAG		bruno-like 4, RNA binding protein isoform 1							71.0	61.0	65.0					18																	34839189		2203	4300	6503	SO:0001587	stop_gained	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839189G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1288C>T	18.37:g.34839189G>A	ENSP00000464794:p.Gln430*					CELF4_uc010dnd.1_Nonsense_Mutation_p.Q428*|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Nonsense_Mutation_p.Q424*|CELF4_uc002lai.2_Nonsense_Mutation_p.Q414*	p.Q430*	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			11	1684	-			430			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Nonsense_Mutation	SNP	ENST00000591282.1	37	c.1288C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	g	41	8.611745	0.98884	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428	.	.	.	4.79	4.79	0.61399	.	0.066556	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.066	18.024	0.89263	0.0:0.0:1.0:0.0	.	.	.	.	X	430;429;428	.	ENSP00000355089:Q430X	Q	-	1	0	CELF4	33093187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	2.480000	0.83734	0.650000	0.86243	CAG		PASS	0.587	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		5	14	5	14	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50741921	50741921	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:50741921C>A	ENST00000442544.2	+	12	2481	c.1865C>A	c.(1864-1866)cCa>cAa	p.P622Q	DCC_ENST00000581580.1_Missense_Mutation_p.P277Q|DCC_ENST00000412726.1_Missense_Mutation_p.P470Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	622					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P622Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTTTAGTGCCAAGTGCCCCG	0.383																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1864-1866)CCA>CAA		netrin receptor DCC precursor							169.0	155.0	159.0					18																	50741921		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50741921C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1865C>A	18.37:g.50741921C>A	ENSP00000389140:p.Pro622Gln					DCC_uc010xdr.1_Missense_Mutation_p.P470Q|DCC_uc010dpf.1_Missense_Mutation_p.P277Q	p.P622Q	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	12	2452	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	622			Extracellular (Potential).|Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1865C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364178	0.41902	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.63580	-0.05;-0.05	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.98664	4.295	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91914	0.5542	10	0.87932	D	0	.	17.6358	0.88122	0.0:1.0:0.0:0.0	.	470;470;622	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	Q	622;555;470	ENSP00000389140:P622Q;ENSP00000397322:P470Q	ENSP00000304146:P555Q	P	+	2	0	DCC	48995919	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.523000	0.67099	2.838000	0.97847	0.655000	0.94253	CCA		PASS	0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	45	15	45	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr18:77171011G>A	ENST00000427363.2	+	2	736	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I|NFATC1_ENST00000253506.5_Missense_Mutation_p.V246I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	246	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V233I(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGCGCCAGCGTCACTGAGGA	0.711																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(736-738)GTC>ATC		nuclear factor of activated T-cells, cytosolic																																				SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171011G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.736G>A	18.37:g.77171011G>A	ENSP00000389377:p.Val246Ile					NFATC1_uc002lnc.1_Missense_Mutation_p.V246I|NFATC1_uc010xff.1_Missense_Mutation_p.V246I|NFATC1_uc002lnd.2_Missense_Mutation_p.V246I|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.V246I|NFATC1_uc010xfi.1_Missense_Mutation_p.V233I|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.V233I|NFATC1_uc002lng.2_Missense_Mutation_p.V233I|NFATC1_uc010xfk.1_Missense_Mutation_p.V233I	p.V246I	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1189	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	246			3 X SP repeats.|2.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.799850	0.00611	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	-3.02	0.05446	.	0.589016	0.17957	N	0.156304	T	0.37812	0.1017	N	0.02345	-0.59	0.40508	D	0.980717	B;B;B;B;B;B;B	0.20261	0.024;0.024;0.024;0.024;0.024;0.043;0.024	B;B;B;B;B;B;B	0.16722	0.016;0.016;0.01;0.007;0.007;0.01;0.01	T	0.43491	-0.9388	10	0.02654	T	1	-34.1493	8.3114	0.32073	0.5774:0.1102:0.3124:0.0	.	233;233;246;246;246;233;246	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	246;246;246;233;233;210	ENSP00000253506:V246I;ENSP00000442435:V246I;ENSP00000327850:V233I	ENSP00000253506:V246I	V	+	1	0	NFATC1	75271999	0.890000	0.30428	0.036000	0.18154	0.115000	0.19883	0.846000	0.27682	-0.474000	0.06862	-0.140000	0.14226	GTC		PASS	0.711	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		12	19	12	19	---	---	---	---
AZU1	566	broad.mit.edu	37	19	828280	828280	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:828280C>A	ENST00000233997.2	+	2	130	c.109C>A	c.(109-111)Cag>Aag	p.Q37K		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	37	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)	p.Q37K(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCGCCAGTTCCCGTT	0.647																																						uc002lpz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(109-111)CAG>AAG		azurocidin 1 preproprotein							49.0	59.0	55.0					19																	828280		2201	4295	6496	SO:0001583	missense	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:828280C>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.109C>A	19.37:g.828280C>A	ENSP00000233997:p.Gln37Lys						p.Q37K	NM_001700	NP_001691	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	125	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	37			Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.109C>A	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319136	0.23994	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.93189	-3.18	2.25	-4.5	0.03493	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84880	0.5570	N	0.25060	0.705	0.09310	N	1	B	0.23377	0.084	B	0.19666	0.026	T	0.73173	-0.4066	9	0.87932	D	0	.	6.1351	0.20227	0.1527:0.5968:0.2505:0.0	.	37	P20160	CAP7_HUMAN	K	51;37	ENSP00000233997:Q37K	ENSP00000233997:Q37K	Q	+	1	0	AZU1	779280	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-1.702000	0.01901	-0.567000	0.06046	-0.416000	0.06073	CAG		PASS	0.647	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		24	52	24	52	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1055129	1055129	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:1055129C>A	ENST00000263094.6	+	30	4215	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	ABCA7_ENST00000435683.2_Silent_p.A1190A|ABCA7_ENST00000433129.1_Silent_p.A1328A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1328					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.A1328A(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGTGGCCAAGGTCTTGG	0.657																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(3982-3984)GCC>GCA		ATP-binding cassette, sub-family A, member 7							36.0	37.0	37.0					19																	1055129		2202	4300	6502	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1055129C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3984C>A	19.37:g.1055129C>A						ABCA7_uc010dsb.1_Silent_p.A1190A|ABCA7_uc002lqy.2_5'Flank	p.A1328A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	30	4215	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1328			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.3984C>A	CCDS12055.1																																																																																				PASS	0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	20	9	20	---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3282474	3282474	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:3282474C>A	ENST00000292672.2	+	8	1054	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	CELF5_ENST00000541430.2_Silent_p.A314A|CELF5_ENST00000588101.1_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	339					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A339A(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCGTCTATGCCAATGGCCTTG	0.587																																						uc002lxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1015-1017)GCC>GCA		bruno-like 5, RNA binding protein							78.0	64.0	69.0					19																	3282474		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282474C>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1017C>A	19.37:g.3282474C>A						CELF5_uc002lxl.1_Silent_p.A339A|CELF5_uc010dtj.1_Silent_p.A314A|CELF5_uc010xhg.1_Silent_p.A225A|CELF5_uc002lxn.2_RNA	p.A339A	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			8	1054	+			339					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1017C>A	CCDS12106.1																																																																																				PASS	0.587	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		10	37	10	37	---	---	---	---
TMIGD2	126259	broad.mit.edu	37	19	4298276	4298276	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:4298276C>G	ENST00000301272.2	-	2	158	c.113G>C	c.(112-114)aGt>aCt	p.S38T	TMIGD2_ENST00000595645.1_Missense_Mutation_p.S38T|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	38	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.S38T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCGCCTGACTGCCCTGCCT	0.617																																						uc002lzx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGT>ACT		transmembrane and immunoglobulin domain							25.0	23.0	24.0					19																	4298276		2201	4298	6499	SO:0001583	missense	126259					integral to membrane		g.chr19:4298276C>G	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.113G>C	19.37:g.4298276C>G	ENSP00000301272:p.Ser38Thr					TMIGD2_uc010dtv.1_Missense_Mutation_p.S38T	p.S38T	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	159	-			38			Extracellular (Potential).|Ig-like.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.113G>C	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562206	0.45590	.	.	ENSG00000167664	ENST00000301272	T	0.29142	1.58	4.09	1.9	0.25705	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19927	0.0479	L	0.29908	0.895	0.09310	N	1	B;B	0.31910	0.297;0.346	B;B	0.31290	0.077;0.127	T	0.19418	-1.0306	9	0.54805	T	0.06	.	4.7682	0.13142	0.0:0.6503:0.224:0.1257	.	38;38	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	T	38	ENSP00000301272:S38T	ENSP00000301272:S38T	S	-	2	0	TMIGD2	4249276	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	0.512000	0.22755	0.362000	0.24319	-0.494000	0.04653	AGT		PASS	0.617	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		3	15	3	15	---	---	---	---
UBXN6	80700	broad.mit.edu	37	19	4446553	4446553	+	Silent	SNP	C	C	A	rs111828265		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:4446553C>A	ENST00000301281.6	-	8	988	c.864G>T	c.(862-864)ctG>ctT	p.L288L	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Silent_p.L235L	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	288						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L288L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AGTCCCCAGGCAGTTCGAACT	0.692																																						uc002man.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)CTG>CTT		UBX domain protein 6							26.0	29.0	28.0					19																	4446553		2203	4300	6503	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446553C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.864G>T	19.37:g.4446553C>A						UBXN6_uc010dty.1_Silent_p.L192L|UBXN6_uc002mam.1_Silent_p.L235L	p.L288L	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			8	960	-			288					D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.864G>T	CCDS12129.1																																																																																				PASS	0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		6	27	6	27	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4512634	4512634	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:4512634C>A	ENST00000301286.3	-	3	1295	c.1296G>T	c.(1294-1296)ttG>ttT	p.L432F		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	432	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.L432F(1)|p.L360F(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TTCCTCTGGCCAAATTCATGG	0.557																																						uc002mar.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1294-1296)TTG>TTT		plasma membrane associated protein, S3-12							124.0	146.0	139.0					19																	4512634		2018	4184	6202	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4512634C>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1296G>T	19.37:g.4512634C>A	ENSP00000301286:p.Leu432Phe					PLIN4_uc010dub.1_5'Flank	p.L432F	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	1296	-			432			11.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1296G>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	9.358	1.067140	0.20067	.	.	ENSG00000167676	ENST00000301286	T	0.06068	3.35	4.73	4.73	0.59995	.	0.585786	0.15154	N	0.277551	T	0.04770	0.0129	N	0.22421	0.69	0.27508	N	0.951786	P	0.45902	0.868	B	0.36666	0.23	T	0.27839	-1.0062	10	0.72032	D	0.01	-14.0824	10.0834	0.42404	0.0:0.9054:0.0:0.0946	.	432	Q96Q06	PLIN4_HUMAN	F	432	ENSP00000301286:L432F	ENSP00000301286:L432F	L	-	3	2	PLIN4	4463634	0.036000	0.19791	0.954000	0.39281	0.011000	0.07611	0.433000	0.21477	2.207000	0.71202	0.298000	0.19748	TTG		PASS	0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		5	119	5	119	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6829837	6829837	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:6829837C>A	ENST00000602142.1	+	14	1388	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S	VAV1_ENST00000599806.1_Missense_Mutation_p.R381S|VAV1_ENST00000596764.1_Missense_Mutation_p.R404S|VAV1_ENST00000539284.1_Missense_Mutation_p.R339S|VAV1_ENST00000304076.2_Missense_Mutation_p.R436S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	436	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R436S(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CATCTGTAAGCGCAGGGGAGA	0.532																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1306-1308)CGC>AGC		vav 1 guanine nucleotide exchange factor							151.0	122.0	132.0					19																	6829837		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829837C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1306C>A	19.37:g.6829837C>A	ENSP00000472929:p.Arg436Ser					VAV1_uc010xjh.1_Missense_Mutation_p.R404S|VAV1_uc010dva.1_Missense_Mutation_p.R436S|VAV1_uc002mfv.1_Missense_Mutation_p.R381S	p.R436S	NM_005428	NP_005419	P15498	VAV_HUMAN			14	1403	+			436			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1306C>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452029	0.63290	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.73047	-0.71;-0.71	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.059708	0.64402	D	0.000006	T	0.79028	0.4377	L	0.59436	1.845	0.45607	D	0.998548	D;D;D;D	0.89917	0.995;0.992;1.0;1.0	P;P;D;D	0.76575	0.705;0.851;0.988;0.979	T	0.77292	-0.2642	10	0.37606	T	0.19	.	10.9278	0.47201	0.1875:0.8125:0.0:0.0	.	339;436;381;436	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	436;339	ENSP00000302269:R436S;ENSP00000443242:R339S	ENSP00000302269:R436S	R	+	1	0	VAV1	6780837	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	1.122000	0.31295	2.385000	0.81259	0.655000	0.94253	CGC		PASS	0.532	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			5	68	5	68	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8183899	8183899	+	Missense_Mutation	SNP	G	G	T	rs142033402	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:8183899G>T	ENST00000600128.1	-	26	3633	c.3219C>A	c.(3217-3219)gaC>gaA	p.D1073E	FBN3_ENST00000601739.1_Missense_Mutation_p.D1073E|FBN3_ENST00000270509.2_Missense_Mutation_p.D1073E			Q75N90	FBN3_HUMAN	fibrillin 3	1073	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D1073E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGCACACTCGTCCACGTCTG	0.617																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3217-3219)GAC>GAA		fibrillin 3 precursor							76.0	59.0	64.0					19																	8183899		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8183899G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3219C>A	19.37:g.8183899G>T	ENSP00000470498:p.Asp1073Glu						p.D1073E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			25	3240	-			1073			EGF-like 14; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3219C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828143	0.50845	.	.	ENSG00000142449	ENST00000270509	D	0.95307	-3.67	3.98	-7.06	0.01568	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.239367	0.34777	U	0.003685	D	0.94958	0.8369	M	0.90705	3.14	0.44555	D	0.997515	D	0.57571	0.98	P	0.49301	0.606	D	0.94008	0.7281	10	0.87932	D	0	.	15.0678	0.72011	0.7123:0.0:0.2877:0.0	.	1073	Q75N90	FBN3_HUMAN	E	1073	ENSP00000270509:D1073E	ENSP00000270509:D1073E	D	-	3	2	FBN3	8089899	0.000000	0.05858	0.935000	0.37517	0.438000	0.31896	-1.924000	0.01565	-1.226000	0.02574	-0.657000	0.03884	GAC		PASS	0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		6	19	6	19	---	---	---	---
ZNF266	10781	broad.mit.edu	37	19	9525231	9525231	+	Missense_Mutation	SNP	T	T	A	rs375483321		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:9525231T>A	ENST00000592904.1	-	5	2446	c.370A>T	c.(370-372)Act>Tct	p.T124S	ZNF266_ENST00000588221.1_Missense_Mutation_p.T124S|ZNF266_ENST00000592292.1_Missense_Mutation_p.T124S|ZNF266_ENST00000361451.2_Missense_Mutation_p.T124S|ZNF266_ENST00000590306.1_Missense_Mutation_p.T124S|ZNF266_ENST00000361151.1_Missense_Mutation_p.T124S|ZNF266_ENST00000588933.1_Missense_Mutation_p.T124S			Q14584	ZN266_HUMAN	zinc finger protein 266	124					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.T124S(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTCTCCAGTAGAGGTTTTC	0.428																																						uc002mll.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)ACT>TCT		zinc finger protein 266							136.0	128.0	131.0					19																	9525231		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525231T>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.370A>T	19.37:g.9525231T>A	ENSP00000466714:p.Thr124Ser					ZNF266_uc002mlm.2_Missense_Mutation_p.T124S|ZNF266_uc002mln.2_Missense_Mutation_p.T124S|ZNF266_uc002mlo.2_Missense_Mutation_p.T124S|ZNF266_uc010dwp.2_Missense_Mutation_p.T124S|ZNF266_uc010dwq.2_Missense_Mutation_p.T124S	p.T124S	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	636	-			124					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.370A>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	6.114	0.389317	0.11581	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07688	3.17;3.17	2.57	-2.62	0.06152	.	.	.	.	.	T	0.05640	0.0148	L	0.35288	1.05	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37934	-0.9684	9	0.52906	T	0.07	.	3.6657	0.08255	0.4984:0.1137:0.0:0.3879	.	124	Q14584	ZN266_HUMAN	S	124	ENSP00000354680:T124S;ENSP00000355047:T124S	ENSP00000355047:T124S	T	-	1	0	ZNF266	9386231	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.419000	0.07071	-0.791000	0.04486	-0.456000	0.05471	ACT		PASS	0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			52	66	52	66	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10792704	10792704	+	Silent	SNP	C	C	T	rs141175607	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:10792704C>T	ENST00000590261.1	+	11	1216	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	ILF3_ENST00000588657.1_Silent_p.L406L|ILF3_ENST00000449870.1_Silent_p.L406L|ILF3_ENST00000589998.1_Silent_p.L406L|ILF3_ENST00000250241.8_Silent_p.L406L|ILF3_ENST00000407004.3_Silent_p.L406L|ILF3_ENST00000318511.3_Silent_p.L406L|ILF3_ENST00000420083.1_Silent_p.L406L|ILF3_ENST00000592763.1_Silent_p.L406L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	406	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L406L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATGAATGCCCTGATGCGGTT	0.587																																						uc002mpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1216-1218)CTG>TTG		interleukin enhancer binding factor 3 isoform a		C	,,,,	0,4406		0,0,2203	58.0	55.0	56.0		1216,1216,1216,1216,1216	-0.6	0.0	19	dbSNP_134	56	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ILF3	NM_001137673.1,NM_004516.3,NM_012218.3,NM_017620.2,NM_153464.2	,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,	406/707,406/703,406/895,406/899,406/691	10792704	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10792704C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1216C>T	19.37:g.10792704C>T						ILF3_uc002mpm.2_Silent_p.L406L|ILF3_uc002mpl.2_Silent_p.L406L|ILF3_uc002mpk.2_Silent_p.L406L|ILF3_uc010xli.1_Silent_p.L4L|ILF3_uc002mpo.2_Silent_p.L406L|ILF3_uc002mpp.2_Silent_p.L227L	p.L406L	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		12	1533	+			406			DRBM 1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1216C>T	CCDS12246.1																																																																																				PASS	0.587	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			10	27	10	27	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15271574	15271574	+	Missense_Mutation	SNP	C	C	A	rs79447691		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:15271574C>A	ENST00000263388.2	-	33	6940	c.6865G>T	c.(6865-6867)Gcc>Tcc	p.A2289S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2289					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A2289S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGTGGCTGGGCAGGCAGTGCC	0.672																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(6865-6867)GCC>TCC		Notch homolog 3 precursor							46.0	54.0	51.0					19																	15271574		2203	4299	6502	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271574C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6865G>T	19.37:g.15271574C>A	ENSP00000263388:p.Ala2289Ser						p.A2289S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6941	-			2289			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6865G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778705	0.16120	.	.	ENSG00000074181	ENST00000263388	T	0.80738	-1.41	3.77	-0.0735	0.13735	.	.	.	.	.	T	0.54838	0.1883	N	0.08118	0	0.20638	N	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.41161	-0.9524	9	0.07813	T	0.8	.	5.8375	0.18615	0.3929:0.4154:0.1917:0.0	.	2289	Q9UM47	NOTC3_HUMAN	S	2289	ENSP00000263388:A2289S	ENSP00000263388:A2289S	A	-	1	0	NOTCH3	15132574	0.331000	0.24713	0.889000	0.34880	0.941000	0.58515	-1.035000	0.03564	0.352000	0.24053	-0.230000	0.12252	GCC		PASS	0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	40	6	40	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17212975	17212975	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:17212975G>T	ENST00000594824.1	+	2	595	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	MYO9B_ENST00000595618.1_Missense_Mutation_p.D150Y|MYO9B_ENST00000397274.2_Missense_Mutation_p.D150Y|CTD-2528A14.5_ENST00000597045.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	150	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.D150Y(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGACTTTGATGACCTGTGTAA	0.602																																						uc010eak.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(448-450)GAC>TAC		myosin IXB isoform 1							64.0	66.0	65.0					19																	17212975		2008	4190	6198	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212975G>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.448G>T	19.37:g.17212975G>T	ENSP00000471367:p.Asp150Tyr					MYO9B_uc002nfi.2_Missense_Mutation_p.D150Y|MYO9B_uc002nfj.1_Missense_Mutation_p.D150Y	p.D150Y	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	600	+			150			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.448G>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.526421	0.85600	.	.	ENSG00000099331	ENST00000397274	D	0.84298	-1.83	5.62	5.62	0.85841	Myosin head, motor domain (2);	0.000000	0.52532	D	0.000072	D	0.96015	0.8702	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97654	1.0156	10	0.87932	D	0	.	18.6262	0.91340	0.0:0.0:1.0:0.0	.	150;150;156	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Y	150	ENSP00000380444:D150Y	ENSP00000380444:D150Y	D	+	1	0	MYO9B	17073975	1.000000	0.71417	0.986000	0.45419	0.906000	0.53458	9.483000	0.97937	2.644000	0.89710	0.655000	0.94253	GAC		PASS	0.602	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			18	37	18	37	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38895709	38895709	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:38895709C>A	ENST00000252530.5	+	4	530	c.511C>A	c.(511-513)Cca>Aca	p.P171T	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.P171T	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	171								p.P171T(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGACCTGCACCAGGGACCCC	0.642																																						uc002oin.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(511-513)CCA>ACA		hypothetical protein LOC147965							34.0	41.0	39.0					19																	38895709		2054	4209	6263	SO:0001583	missense	147965							g.chr19:38895709C>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.511C>A	19.37:g.38895709C>A	ENSP00000252530:p.Pro171Thr					FAM98C_uc002oio.1_Missense_Mutation_p.P171T|FAM98C_uc010xtz.1_Intron	p.P171T	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	530	+	all_cancers(60;3.95e-06)		171					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.511C>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	2.077	-0.411648	0.04799	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.40225	1.04;1.04	4.72	3.65	0.41850	.	0.647524	0.12855	N	0.433567	T	0.33673	0.0871	L	0.41236	1.265	0.09310	N	1	P;B	0.45827	0.867;0.425	B;B	0.42282	0.382;0.171	T	0.06215	-1.0839	10	0.16896	T	0.51	0.4585	10.5295	0.44969	0.0:0.8037:0.1963:0.0	.	171;171	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	T	171	ENSP00000252530:P171T;ENSP00000340348:P171T	ENSP00000252530:P171T	P	+	1	0	FAM98C	43587549	0.001000	0.12720	0.001000	0.08648	0.318000	0.28184	1.391000	0.34475	1.154000	0.42482	0.558000	0.71614	CCA		PASS	0.642	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		6	77	6	77	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38911820	38911820	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:38911820G>T	ENST00000587738.1	-	3	299	c.229C>A	c.(229-231)Cac>Aac	p.H77N	RASGRP4_ENST00000454404.2_Missense_Mutation_p.H77N|RASGRP4_ENST00000433821.2_Missense_Mutation_p.H77N|RASGRP4_ENST00000426920.2_Missense_Mutation_p.H77N|RASGRP4_ENST00000587753.1_Missense_Mutation_p.H77N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.H77N|RASGRP4_ENST00000586305.1_Missense_Mutation_p.H77N			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	77	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.H77N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGTCCTCGTGGCACAGGCTG	0.622																																						uc002oir.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(229-231)CAC>AAC		RAS guanyl releasing protein 4 isoform a							52.0	57.0	55.0					19																	38911820		2121	4260	6381	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38911820G>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.229C>A	19.37:g.38911820G>T	ENSP00000465772:p.His77Asn					RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.H77N|RASGRP4_uc010xub.1_Missense_Mutation_p.H77N|RASGRP4_uc010xuc.1_Missense_Mutation_p.H77N|RASGRP4_uc010xud.1_Missense_Mutation_p.H77N|RASGRP4_uc010xue.1_Missense_Mutation_p.H77N|RASGRP4_uc010egb.2_Missense_Mutation_p.H77N	p.H77N	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	443	-	all_cancers(60;4.21e-06)		77			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.229C>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201270	0.22121	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	3.78	3.78	0.43462	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.256926	0.35772	N	0.002987	T	0.16085	0.0387	N	0.14661	0.345	0.24298	N	0.995134	B;B;B;B;B;B;B	0.19817	0.016;0.016;0.005;0.01;0.005;0.0;0.039	B;B;B;B;B;B;B	0.16289	0.01;0.015;0.002;0.009;0.002;0.003;0.008	T	0.12218	-1.0556	10	0.27082	T	0.32	-5.5775	8.8531	0.35212	0.0:0.0:0.7764:0.2236	.	77;77;77;77;77;77;77	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	N	77	ENSP00000411878:H77N;ENSP00000293062:H77N;ENSP00000445966:H77N;ENSP00000416463:H77N	ENSP00000293062:H77N	H	-	1	0	RASGRP4	43603660	0.979000	0.34478	0.851000	0.33527	0.588000	0.36517	1.800000	0.38833	2.116000	0.64780	0.557000	0.71058	CAC		PASS	0.622	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		9	21	9	21	---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39798893	39798893	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:39798893C>T	ENST00000248668.4	-	2	1695	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	566						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D518N(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGGCGGCTGTCCCCGTCGCCA	0.682																																						uc002okw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1696-1698)GAC>AAC		leucine rich repeat and fibronectin type III							19.0	25.0	23.0					19																	39798893		2158	4270	6428	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798893C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1696G>A	19.37:g.39798893C>T	ENSP00000248668:p.Asp566Asn						p.D566N	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1696	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		566			Cytoplasmic (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1696G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389284	0.42410	.	.	ENSG00000128011	ENST00000248668	T	0.62941	-0.01	4.17	3.12	0.35913	.	0.388763	0.18860	N	0.129152	T	0.45397	0.1340	N	0.19112	0.55	0.37473	D	0.915699	P	0.42785	0.79	B	0.42188	0.379	T	0.38436	-0.9661	10	0.20519	T	0.43	.	10.0355	0.42127	0.0:0.8991:0.0:0.1009	.	566	Q9P244	LRFN1_HUMAN	N	566	ENSP00000248668:D566N	ENSP00000248668:D566N	D	-	1	0	LRFN1	44490733	0.016000	0.18221	0.871000	0.34182	0.608000	0.37181	0.676000	0.25247	0.969000	0.38237	0.462000	0.41574	GAC		PASS	0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		10	10	10	10	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41040149	41040149	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:41040149G>T	ENST00000352632.3	+	20	4344	c.4258G>T	c.(4258-4260)Gct>Tct	p.A1420S	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1420S|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A96S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A163S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1420S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1420S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1420					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1420S(1)|p.A96S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGAGCTTTGCTGAGCTGGA	0.607																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4258-4260)GCT>TCT		spectrin, beta, non-erythrocytic 4 isoform							39.0	35.0	37.0					19																	41040149		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040149G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4258G>T	19.37:g.41040149G>T	ENSP00000263373:p.Ala1420Ser					SPTBN4_uc002onx.2_Missense_Mutation_p.A1420S|SPTBN4_uc002onz.2_Missense_Mutation_p.A1420S|SPTBN4_uc010egx.2_Missense_Mutation_p.A163S|SPTBN4_uc010egy.1_Missense_Mutation_p.A96S|SPTBN4_uc002ooa.2_Missense_Mutation_p.A96S|SPTBN4_uc010egz.1_Missense_Mutation_p.A96S	p.A1420S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4344	+			1420			Spectrin 12.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.4258G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312076	0.23821	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;1.39	5.03	5.03	0.67393	.	0.097576	0.43416	D	0.000570	T	0.19685	0.0473	N	0.04203	-0.255	0.23834	N	0.996711	B;B;B;B;B;B	0.29378	0.243;0.043;0.053;0.028;0.159;0.118	B;B;B;B;B;B	0.26864	0.074;0.028;0.047;0.053;0.056;0.048	T	0.19976	-1.0289	10	0.10377	T	0.69	.	6.4257	0.21768	0.0894:0.0:0.728:0.1826	.	1420;163;163;96;1420;1420	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	S	1420;1420;1420;163;96	ENSP00000263373:A1420S;ENSP00000340345:A1420S;ENSP00000375879:A163S;ENSP00000375877:A96S	ENSP00000340345:A1420S	A	+	1	0	SPTBN4	45731989	0.158000	0.22850	0.080000	0.20451	0.978000	0.69477	1.902000	0.39848	2.614000	0.88457	0.561000	0.74099	GCT		PASS	0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			12	18	12	18	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41115449	41115449	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:41115449C>A	ENST00000545697.1	+	0	1530				LTBP4_ENST00000308370.7_Silent_p.G547G|LTBP4_ENST00000396819.3_Silent_p.G480G|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.G510G			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G547G(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCCTCCGGCATGTGTCAGC	0.662																																						uc002ooh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1639-1641)GGC>GGA		latent transforming growth factor beta binding							42.0	50.0	47.0					19																	41115449		2103	4230	6333			8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41115449C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1			19.37:g.41115449C>A						LTBP4_uc002oog.1_Silent_p.G510G|LTBP4_uc002ooi.1_Silent_p.G480G|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank	p.G547G	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		13	1641	+			547			Pro-rich.|EGF-like 3.		O00508|O75412|O75413	Silent	SNP	ENST00000545697.1	37	c.1641C>A																																																																																					PASS	0.662	LTBP4-205	KNOWN	basic	protein_coding	protein_coding		NM_003573		7	47	7	47	---	---	---	---
ZNF575	284346	broad.mit.edu	37	19	44039768	44039768	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:44039768G>T	ENST00000314228.5	+	4	1179	c.667G>T	c.(667-669)Ggc>Tgc	p.G223C	ZNF575_ENST00000458714.2_Missense_Mutation_p.G322C|ZNF575_ENST00000601282.1_Missense_Mutation_p.G223C	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	223					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.G223C(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CCAGGCCTTTGGCCAGAGACG	0.662																																						uc002ows.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GGC>TGC		zinc finger protein 575							20.0	21.0	21.0					19																	44039768		2202	4298	6500	SO:0001583	missense	284346				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44039768G>T	BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"""Zinc fingers, C2H2-type"""	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.667G>T	19.37:g.44039768G>T	ENSP00000315870:p.Gly223Cys					ZNF575_uc002owq.2_Missense_Mutation_p.G322C	p.G223C	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN			4	1195	+		Prostate(69;0.0199)	223			C2H2-type 6.		B4DX54	Missense_Mutation	SNP	ENST00000314228.5	37	c.667G>T	CCDS12623.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325509	0.60743	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.08008	3.14;3.18	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000371	T	0.13884	0.0336	N	0.26092	0.79	0.36166	D	0.848479	D;D	0.76494	0.996;0.999	P;D	0.70487	0.905;0.969	T	0.08106	-1.0738	10	0.48119	T	0.1	-10.3414	8.3688	0.32402	0.1122:0.0:0.8878:0.0	.	223;322	Q86XF7;B3KQ07	ZN575_HUMAN;.	C	322;223	ENSP00000413956:G322C;ENSP00000315870:G223C	ENSP00000315870:G223C	G	+	1	0	ZNF575	48731608	0.006000	0.16342	1.000000	0.80357	0.805000	0.45488	0.286000	0.18902	2.180000	0.69256	0.650000	0.86243	GGC		PASS	0.662	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945		11	13	11	13	---	---	---	---
ZNF296	162979	broad.mit.edu	37	19	45575836	45575836	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:45575836G>C	ENST00000303809.2	-	3	665	c.451C>G	c.(451-453)Cga>Gga	p.R151G		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	151					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R151G(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCTCCTCTCGTTCTGGTAAG	0.582																																						uc002pao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)CGA>GGA		zinc finger protein 296							61.0	61.0	61.0					19																	45575836		2200	4297	6497	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575836G>C	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.451C>G	19.37:g.45575836G>C	ENSP00000302770:p.Arg151Gly						p.R151G	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			3	508	-			151						Missense_Mutation	SNP	ENST00000303809.2	37	c.451C>G	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	7.499	0.652307	0.14580	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.04917	3.53	4.71	-1.88	0.07713	.	3.011420	0.00864	N	0.001941	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41980	-0.9478	10	0.62326	D	0.03	0.0329	1.8252	0.03119	0.2844:0.1366:0.44:0.139	.	151	Q8WUU4	ZN296_HUMAN	G	151;127	ENSP00000302770:R151G	ENSP00000302770:R151G	R	-	1	2	ZNF296	50267676	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.175000	0.16762	-0.061000	0.13110	0.655000	0.94253	CGA		PASS	0.582	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		10	36	10	36	---	---	---	---
GLTSCR2	29997	broad.mit.edu	37	19	48248819	48248819	+	Start_Codon_SNP	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:48248819G>T	ENST00000246802.5	+	1	41	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	1						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TTGACAAGATGGCGGCAGGAG	0.612																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1-3)ATG>ATT		glioma tumor suppressor candidate region gene 2							90.0	102.0	98.0					19																	48248819		2203	4300	6503	SO:0001582	initiator_codon_variant	29997					nucleolus		g.chr19:48248819G>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.3G>T	19.37:g.48248819G>T	ENSP00000246802:p.Met1Ile					GLTSCR2_uc002phk.2_Missense_Mutation_p.M1I|GLTSCR2_uc002phl.2_Missense_Mutation_p.M1I|GLTSCR2_uc010elj.2_Missense_Mutation_p.M1I	p.M1I	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	27	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	1					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.3G>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751470	0.49257	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33438	1.41	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	.	.	.	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.40825	0.341;0.258	T	0.17806	-1.0357	9	0.87932	D	0	-16.5976	12.8142	0.57657	0.0:0.0:1.0:0.0	.	1;1	Q53YP0;Q9NZM5	.;GSCR2_HUMAN	I	1	ENSP00000246802:M1I	ENSP00000246802:M1I	M	+	3	0	GLTSCR2	52940631	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	4.800000	0.62524	2.148000	0.66965	0.655000	0.94253	ATG		PASS	0.612	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	Missense_Mutation	5	114	5	114	---	---	---	---
CCDC114	93233	broad.mit.edu	37	19	48806033	48806033	+	Silent	SNP	G	G	T	rs572952646		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:48806033G>T	ENST00000315396.7	-	10	1729	c.1047C>A	c.(1045-1047)cgC>cgA	p.R349R		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	349					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.R142R(1)|p.R349R(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCTTGTCCATGCGCTGCTGCA	0.632																																						uc002pir.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1045-1047)CGC>CGA		coiled-coil domain containing 114 isoform 2							96.0	89.0	91.0					19																	48806033		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48806033G>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1047C>A	19.37:g.48806033G>T						CCDC114_uc002piq.2_Silent_p.R158R|CCDC114_uc002pio.2_Silent_p.R386R|CCDC114_uc002pis.1_Silent_p.R29R|CCDC114_uc002pit.1_Silent_p.R386R	p.R349R	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1730	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	349			Potential.		Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1047C>A	CCDS12714.2																																																																																				PASS	0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		30	64	30	64	---	---	---	---
TMEM143	55260	broad.mit.edu	37	19	48836478	48836478	+	Nonstop_Mutation	SNP	A	A	G	rs149734771		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:48836478A>G	ENST00000293261.3	-	8	1694	c.1378T>C	c.(1378-1380)Tga>Cga	p.*460R	TMEM143_ENST00000435956.3_Nonstop_Mutation_p.*425R|TMEM143_ENST00000436660.2_Nonstop_Mutation_p.*395R|TMEM143_ENST00000541566.1_Nonstop_Mutation_p.*350R|TMEM143_ENST00000377431.2_Nonstop_Mutation_p.*360R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	0					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.*460R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGTTCTACTCAGGAGATGTTA	0.562																																						uc002pix.1																			1	Nonstop extension(1)		lung(1)		0						c.(1378-1380)TGA>CGA		transmembrane protein 143							31.0	35.0	34.0					19																	48836478		2202	4298	6500	SO:0001578	stop_lost	55260					integral to membrane|mitochondrion		g.chr19:48836478A>G	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1378T>C	19.37:g.48836478A>G	ENSP00000293261:p.*460Glyext*14					TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Nonstop_Mutation_p.*425R|TMEM143_uc010xzn.1_Nonstop_Mutation_p.*395R|TMEM143_uc010elw.1_Nonstop_Mutation_p.*360R|TMEM143_uc010xzo.1_Nonstop_Mutation_p.*250R	p.*460R	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	8	1387	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					A8K656|Q6UXY4|Q9NV49	Nonstop_Mutation	SNP	ENST00000293261.3	37	c.1378T>C	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	A	7.965	0.747793	0.15710	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	.	.	.	3.74	0.177	0.15054	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2954	0.43620	0.508:0.492:0.0:0.0	.	.	.	.	R	460;360;425;395;350	.	.	X	-	1	0	TMEM143	53528290	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.038000	0.12144	-0.050000	0.13356	0.379000	0.24179	TGA		PASS	0.562	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		7	22	7	22	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48908114	48908114	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:48908114C>A	ENST00000263269.3	+	3	677	c.589C>A	c.(589-591)Cac>Aac	p.H197N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	197					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.H197N(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCCCTGGCCACCGGGCCTT	0.642																																						uc002pjc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)	6						c.(589-591)CAC>AAC		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						170.0	162.0	164.0					19																	48908114		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908114C>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.589C>A	19.37:g.48908114C>A	ENSP00000263269:p.His197Asn						p.H197N	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	677	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	197			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.589C>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674494	0.67928	.	.	ENSG00000105464	ENST00000263269	D	0.82433	-1.61	5.07	5.07	0.68467	Extracellular ligand-binding receptor (1);	0.065017	0.64402	D	0.000006	T	0.78285	0.4259	N	0.24115	0.695	0.41800	D	0.989916	D	0.54964	0.969	P	0.53006	0.715	T	0.78831	-0.2049	10	0.52906	T	0.07	.	8.1773	0.31289	0.0:0.8272:0.0:0.1728	.	197	O15399	NMDE4_HUMAN	N	197	ENSP00000263269:H197N	ENSP00000263269:H197N	H	+	1	0	GRIN2D	53599926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.093000	0.57714	2.526000	0.85167	0.655000	0.94253	CAC		PASS	0.642	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			47	121	47	121	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49797732	49797732	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:49797732G>T	ENST00000335875.4	-	8	1549	c.1308C>A	c.(1306-1308)taC>taA	p.Y436*	SLC6A16_ENST00000454748.3_Nonsense_Mutation_p.Y436*	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	436					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Y436*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGGTTGGGTTGTAAAGCAGGT	0.498																																						uc002pmz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|kidney(1)	4						c.(1306-1308)TAC>TAA		solute carrier family 6, member 16							128.0	128.0	128.0					19																	49797732		1952	4155	6107	SO:0001587	stop_gained	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797732G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1308C>A	19.37:g.49797732G>T	ENSP00000338627:p.Tyr436*					SLC6A16_uc002pna.2_Nonsense_Mutation_p.Y436*	p.Y436*	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	8	1542	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	436			Extracellular (Potential).		Q8IYV4|Q9Y5I9	Nonsense_Mutation	SNP	ENST00000335875.4	37	c.1308C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379629	0.61845	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	.	.	.	4.98	-9.97	0.00440	.	3.624330	0.00541	N	0.000222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5451	0.27761	0.0917:0.2358:0.516:0.1565	.	.	.	.	X	436	.	ENSP00000338627:Y436X	Y	-	3	2	SLC6A16	54489544	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.632000	0.00206	-4.396000	0.00051	-0.888000	0.02935	TAC		PASS	0.498	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		15	41	15	41	---	---	---	---
MIR520F	574464	broad.mit.edu	37	19	54183251	54183251	+	RNA	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:54183251C>T	ENST00000384824.1	+	0	0				MIR515-1_ENST00000384884.1_RNA|MIR519E_ENST00000385075.1_RNA	NR_030186.1				microRNA 520f																		AACAAAGTGCCTCCTTTTAGA	0.408																																						hsa-mir-519e|MI0003145																			0					0															86.0	77.0	80.0					19																	54183251		1568	3582	5150			574463							g.chr19:54183251C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54183251C>T						MIR520F_hsa-mir-520f|MI0003146_5'Flank										+									RNA	SNP	ENST00000384824.1	37	c.58C>T																																																																																					PASS	0.408	MIR520F-201	KNOWN	basic	miRNA	miRNA		NR_030186		10	24	10	24	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54754789	54754789	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:54754789G>C	ENST00000316219.5	-	13	1741	c.1634C>G	c.(1633-1635)gCa>gGa	p.A545G	LILRB5_ENST00000345866.6_Missense_Mutation_p.A446G|LILRB5_ENST00000449561.2_Missense_Mutation_p.A546G|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.H616D	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	545					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.H616D(1)|p.A545G(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)		GGCTTCAGATGCAGCAGCCTG	0.622																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1633-1635)GCA>GGA		leukocyte immunoglobulin-like receptor,							34.0	39.0	37.0					19																	54754789		2203	4294	6497	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754789G>C	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.1634C>G	19.37:g.54754789G>C	ENSP00000320390:p.Ala545Gly					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.H616D|LILRB5_uc002qey.2_Missense_Mutation_p.A546G|LILRB5_uc002qez.2_Missense_Mutation_p.A446G|LILRB5_uc002qfa.1_3'UTR	p.A545G	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1745	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		545			Cytoplasmic (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1634C>G	CCDS12885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.207824|2.207824	0.39003|0.39003	.|.	.|.	ENSG00000105609|ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866|ENST00000450632	T;T;T|T	0.00490|0.00481	7.05;7.03;7.04|7.11	2.29|2.29	1.23|1.23	0.21249|0.21249	.|.	.|.	.|.	.|.	.|.	T|T	0.00552|0.00552	0.0018|0.0018	M|M	0.72118|0.72118	2.19|2.19	0.09310|0.09310	N|N	1|1	P;P;D|P	0.71674|0.41232	0.513;0.845;0.998|0.743	B;B;P|B	0.60345|0.43838	0.346;0.425;0.873|0.433	T|T	0.46233|0.46233	-0.9206|-0.9206	9|9	0.29301|0.87932	T|D	0.29|0	.|.	4.2433|4.2433	0.10660|0.10660	0.2072:0.0:0.7928:0.0|0.2072:0.0:0.7928:0.0	.|.	446;546;545|616	O75023-2;O75023-3;O75023|C9JMK7	.;.;LIRB5_HUMAN|.	G|D	545;546;446|616	ENSP00000320390:A545G;ENSP00000406478:A546G;ENSP00000263430:A446G|ENSP00000414225:H616D	ENSP00000320390:A545G|ENSP00000414225:H616D	A|H	-|-	2|1	0|0	LILRB5|LILRB5	59446601|59446601	0.000000|0.000000	0.05858|0.05858	0.066000|0.066000	0.19879|0.19879	0.446000|0.446000	0.32137|0.32137	0.344000|0.344000	0.19962|0.19962	1.276000|1.276000	0.44395|0.44395	0.460000|0.460000	0.39030|0.39030	GCA|CAT		PASS	0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			10	26	10	26	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780734	54780734	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:54780734G>T	ENST00000391749.4	-	10	1681	c.1410C>A	c.(1408-1410)gtC>gtA	p.V470V	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Silent_p.V354V|LILRB2_ENST00000314446.5_Silent_p.V469V|LILRB2_ENST00000391748.1_Silent_p.V469V|LILRB2_ENST00000391746.1_Silent_p.V470V	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	470					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.V470V(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)		ggagcagtaggaCGACGGCCA	0.582																																						uc002qfb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1408-1410)GTC>GTA		leukocyte immunoglobulin-like receptor,							243.0	171.0	195.0					19																	54780734		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.chr19:54780734G>T	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.1410C>A	19.37:g.54780734G>T						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.V470V|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.V469V|LILRB2_uc010yet.1_Silent_p.V354V	p.V470V	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1676	-	Ovarian(34;0.19)		470			Helical; (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1410C>A	CCDS12886.1																																																																																				PASS	0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			11	54	11	54	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55175367	55175367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:55175367G>T	ENST00000391736.1	+	5	541	c.226G>T	c.(226-228)Gag>Tag	p.E76*	LILRB4_ENST00000391733.3_Nonsense_Mutation_p.E76*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.E76*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.E76*|LILRB4_ENST00000391734.3_Nonsense_Mutation_p.E76*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	76	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.E76*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAACCCACTGGAGCCCAAGAA	0.572																																						uc002qgp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(226-228)GAG>TAG		leukocyte immunoglobulin-like receptor,							294.0	262.0	273.0					19																	55175367		2203	4300	6503	SO:0001587	stop_gained	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175367G>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.226G>T	19.37:g.55175367G>T	ENSP00000375616:p.Glu76*					LILRB4_uc002qgo.1_Nonsense_Mutation_p.E117*|LILRB4_uc002qgq.2_Nonsense_Mutation_p.E76*|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Nonsense_Mutation_p.E117*|LILRB4_uc010ert.2_Nonsense_Mutation_p.E117*|LILRB4_uc010eru.2_Nonsense_Mutation_p.E105*	p.E76*	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	3	588	+			76			Ig-like C2-type 1.|Extracellular (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Nonsense_Mutation	SNP	ENST00000391736.1	37	c.226G>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	9.193	1.026549	0.19512	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	.	.	.	2.43	-4.09	0.03951	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.2709	0.26256	0.5646:0.0:0.4354:0.0	.	.	.	.	X	117;76;76;76;76;76;76	.	ENSP00000270452:E76X	E	+	1	0	LILRB4	59867179	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.793000	0.01755	-1.032000	0.03304	0.407000	0.27541	GAG		PASS	0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			45	127	45	127	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55329906	55329906	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:55329906C>A	ENST00000391728.4	+	3	240	c.207C>A	c.(205-207)ccC>ccA	p.P69P	KIR3DL1_ENST00000541392.1_Silent_p.P69P|KIR3DL1_ENST00000538269.1_Silent_p.P69P|KIR3DL1_ENST00000402254.2_Silent_p.P69P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000326542.7_Silent_p.P69P	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	69	Ig-like C2-type 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.P69P(2)		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)		TCCACATTCCCATCTTCCATG	0.502																																						uc002qhk.3																			2	Substitution - coding silent(2)	p.P69S(1)	lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(205-207)CCC>CCA		killer cell immunoglobulin-like receptor, three							70.0	96.0	87.0					19																	55329906		2170	4119	6289	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55329906C>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	ENST00000391728.4:c.207C>A	19.37:g.55329906C>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.P11P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.P11P|KIR3DL1_uc002qhl.3_Silent_p.P69P	p.P69P	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	270	+			69			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.207C>A	CCDS42621.1																																																																																				PASS	0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		6	3	6	3	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952734	56952734	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:56952734G>A	ENST00000504904.3	-	7	2349	c.1630C>T	c.(1630-1632)Cta>Tta	p.L544L	ZNF667_ENST00000292069.6_Silent_p.L544L|ZNF667_ENST00000342634.3_Silent_p.L672L|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	544					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.L544L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTTCATGTAGAATAAGAGAT	0.433																																						uc002qnd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1630-1632)CTA>TTA		zinc finger protein 667							94.0	84.0	87.0					19																	56952734		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56952734G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1630C>T	19.37:g.56952734G>A						ZNF667_uc010etl.2_Silent_p.L326L|ZNF667_uc002qne.2_Silent_p.L544L|ZNF667_uc010etm.2_Silent_p.L487L	p.L544L	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1792	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	544			C2H2-type 13.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1630C>T	CCDS12944.1																																																																																				PASS	0.433	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		34	51	34	51	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328879	57328879	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:57328879G>T	ENST00000326441.9	-	10	1294	c.931C>A	c.(931-933)Cac>Aac	p.H311N	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H187N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H311N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H185N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	311				SH -> PP (in Ref. 7; BAB85588). {ECO:0000305}.	apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H311N(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATCACTCCGTGGGAAGATTCA	0.463																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(931-933)CAC>AAC		paternally expressed 3 isoform 1							59.0	65.0	63.0					19																	57328879		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328879G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.931C>A	19.37:g.57328879G>T	ENSP00000326581:p.His311Asn					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H282N|PEG3_uc002qnv.2_Missense_Mutation_p.H311N|PEG3_uc002qnw.2_Missense_Mutation_p.H187N|PEG3_uc002qnx.2_Missense_Mutation_p.H185N|PEG3_uc010etr.2_Missense_Mutation_p.H311N	p.H311N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1282	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	311	SH -> PP (in Ref. 2; BAB85588).				A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.931C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065198	0.55432	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02682	4.2;4.2	4.27	4.27	0.50696	.	0.000000	0.47852	D	0.000213	T	0.07458	0.0188	L	0.27053	0.805	.	.	.	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.76071	0.987;0.987;0.813	T	0.20739	-1.0266	9	0.66056	D	0.02	-39.3613	12.5058	0.55979	0.0:0.0:1.0:0.0	.	187;311;246	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	311;311;281	ENSP00000326581:H311N;ENSP00000403051:H311N	ENSP00000292074:H281N	H	-	1	0	ZIM2	62020691	0.805000	0.28982	0.975000	0.42487	0.835000	0.47333	1.579000	0.36536	2.665000	0.90641	0.561000	0.74099	CAC		PASS	0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			25	42	25	42	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57910055	57910055	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr19:57910055G>C	ENST00000366197.5	+	3	650	c.400G>C	c.(400-402)Gat>Cat	p.D134H	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.D146H|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	134					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.D146H(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCAGAGGGGATGATTGGAT	0.458																																						uc002qom.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(400-402)GAT>CAT		zinc finger protein 548							97.0	91.0	93.0					19																	57910055		1989	4213	6202	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910055G>C	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.400G>C	19.37:g.57910055G>C	ENSP00000379482:p.Asp134His					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.D137H	p.D134H	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	650	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	134					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.400G>C	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868331	0.51588	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05580	3.42;3.45	2.55	1.51	0.23008	.	.	.	.	.	T	0.06416	0.0165	L	0.35542	1.07	0.09310	N	1	P;P	0.52842	0.956;0.926	P;B	0.46144	0.505;0.308	T	0.34453	-0.9828	9	0.52906	T	0.07	.	5.1971	0.15245	0.1656:0.0:0.8344:0.0	.	146;134	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	H	146;134	ENSP00000337555:D146H;ENSP00000379482:D134H	ENSP00000337555:D146H	D	+	1	0	ZNF548	62601867	0.000000	0.05858	0.001000	0.08648	0.496000	0.33645	0.312000	0.19397	0.653000	0.30826	0.591000	0.81541	GAT		PASS	0.458	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		19	50	19	50	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	279139	279139	+	Silent	SNP	G	G	T	rs547592217		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:279139G>T	ENST00000382352.3	+	1	1403	c.912G>T	c.(910-912)ctG>ctT	p.L304L		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	304							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L304L(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AGATCGAGCTGCGCCAGGGGG	0.637																																						uc002wdf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(907-909)CTG>CTT		zinc finger, CCHC domain containing 3							49.0	56.0	54.0					20																	279139		1988	4158	6146	SO:0001819	synonymous_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279139G>T	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.912G>T	20.37:g.279139G>T						ZCCHC3_uc002wdg.2_RNA	p.L303L	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	933	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	304					Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	c.909G>T	CCDS42844.1																																																																																				PASS	0.637	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			16	39	16	39	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8609072	8609072	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:8609072G>T	ENST00000338037.6	+	4	405	c.378G>T	c.(376-378)gtG>gtT	p.V126V	PLCB1_ENST00000378637.2_Silent_p.V126V|PLCB1_ENST00000378641.3_Silent_p.V126V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	126					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.V126V(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAGAAGTGGCCAAGGTAT	0.458																																						uc002wnb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(376-378)GTG>GTT		phosphoinositide-specific phospholipase C beta 1							124.0	107.0	113.0					20																	8609072		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8609072G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.378G>T	20.37:g.8609072G>T						PLCB1_uc010zrb.1_Silent_p.V25V|PLCB1_uc010gbv.1_Silent_p.V126V|PLCB1_uc002wmz.1_Silent_p.V126V|PLCB1_uc002wna.2_Silent_p.V126V|PLCB1_uc002wnc.1_Silent_p.V25V	p.V126V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			4	381	+			126					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.378G>T	CCDS13102.1																																																																																				PASS	0.458	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			9	47	9	47	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17489584	17489584	+	Missense_Mutation	SNP	G	G	A	rs372210205		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:17489584G>A	ENST00000377873.3	-	5	724	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	BFSP1_ENST00000544874.1_Missense_Mutation_p.R90W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R104W|BFSP1_ENST00000536626.1_Missense_Mutation_p.R90W	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	229	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.R229W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGCACCTCCCGGCCCTCCTCC	0.642																																						uc002wpo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(685-687)CGG>TGG		filensin isoform 1		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	24.0	22.0	23.0		310,685	0.5	0.1	20		23	2,8598		0,2,4298	no	missense,missense	BFSP1	NM_001161705.1,NM_001195.3	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	104/541,229/666	17489584	2,13004	2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17489584G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.685C>T	20.37:g.17489584G>A	ENSP00000367104:p.Arg229Trp					BFSP1_uc002wpp.2_Missense_Mutation_p.R104W|BFSP1_uc010zrn.1_Missense_Mutation_p.R90W|BFSP1_uc010zro.1_Missense_Mutation_p.R90W	p.R229W	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			5	724	-			229			Rod.|Coil 2.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.685C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582915	0.46006	0.0	2.33E-4	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87412	-2.25;1.34;1.34;1.34	5.35	0.475	0.16774	.	0.452533	0.22806	N	0.055407	T	0.81108	0.4754	M	0.63428	1.95	0.24266	N	0.995264	B;B	0.23490	0.055;0.086	B;B	0.12156	0.007;0.007	T	0.72494	-0.4276	10	0.87932	D	0	-4.8155	5.0594	0.14550	0.1726:0.0:0.3641:0.4632	.	104;229	Q12934-2;Q12934	.;BFSP1_HUMAN	W	229;104;90;90	ENSP00000367104:R229W;ENSP00000367099:R104W;ENSP00000442522:R90W;ENSP00000439870:R90W	ENSP00000367099:R104W	R	-	1	2	BFSP1	17437584	1.000000	0.71417	0.054000	0.19295	0.920000	0.55202	3.204000	0.51082	0.334000	0.23590	-0.266000	0.10368	CGG		PASS	0.642	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		3	11	3	11	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25194014	25194014	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:25194014G>T	ENST00000376652.4	+	5	732	c.569G>T	c.(568-570)gGa>gTa	p.G190V	ENTPD6_ENST00000354989.5_Missense_Mutation_p.G173V|ENTPD6_ENST00000433259.2_Missense_Mutation_p.G190V|ENTPD6_ENST00000360031.2_Missense_Mutation_p.G189V|Y_RNA_ENST00000365544.1_RNA			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	190					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.G190V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTGTTACCTGGAGAAAAGGCC	0.552																																						uc002wuj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GGA>GTA		ectonucleoside triphosphate diphosphohydrolase 6							95.0	77.0	83.0					20																	25194014		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25194014G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.569G>T	20.37:g.25194014G>T	ENSP00000365840:p.Gly190Val					ENTPD6_uc010zsy.1_Missense_Mutation_p.G190V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G162V|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.G173V|ENTPD6_uc010zta.1_Missense_Mutation_p.G190V|ENTPD6_uc002wun.2_Missense_Mutation_p.G190V|ENTPD6_uc002wuk.2_Missense_Mutation_p.G189V|ENTPD6_uc002wul.2_Missense_Mutation_p.G189V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G162V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G162V|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010ztd.1_5'UTR	p.G190V	NM_001247	NP_001238	O75354	ENTP6_HUMAN			5	749	+			190			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.569G>T	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.23|15.23|15.23	2.773019|2.773019|2.773019	0.49680|0.49680|0.49680	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000433259|ENST00000376666	.|T;T;T;T;T|.	.|0.11821|.	.|2.74;2.74;2.74;2.74;2.74|.	5.79|5.79|5.79	3.83|3.83|3.83	0.44106|0.44106|0.44106	.|.|.	.|0.101796|.	.|0.64402|.	.|D|.	.|0.000002|.	.|T|T	.|0.70281|0.70281	.|0.3206|0.3206	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;P;P;P;P;P;D;D|.	.|0.57571|.	.|0.74;0.571;0.571;0.89;0.55;0.571;0.98;0.98|.	.|P;B;B;P;B;B;D;D|.	.|0.65684|.	.|0.588;0.403;0.403;0.588;0.358;0.403;0.937;0.937|.	.|T|T	.|0.70464|0.70464	.|-0.4864|-0.4864	.|10|5	.|0.54805|.	.|T|.	.|0.06|.	-13.8336|-13.8336|-13.8336	10.0622|10.0622|10.0622	0.42282|0.42282|0.42282	0.1629:0.0:0.8371:0.0|0.1629:0.0:0.8371:0.0|0.1629:0.0:0.8371:0.0	.|.|.	.|172;190;190;190;173;189;189;190|.	.|B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354|.	.|.;.;.;.;.;.;.;ENTP6_HUMAN|.	X|V|C	111;83|173;189;110;86;190;172;190|13	.|ENSP00000347084:G173V;ENSP00000353131:G189V;ENSP00000365840:G190V;ENSP00000408098:G172V;ENSP00000401895:G190V|.	.|ENSP00000347084:G173V|.	E|G|W	+|+|+	1|2|3	0|0|0	ENTPD6|ENTPD6|ENTPD6	25142014|25142014|25142014	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	2.810000|2.810000|2.810000	0.47979|0.47979|0.47979	1.445000|1.445000|1.445000	0.47624|0.47624|0.47624	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GGA|TGG		PASS	0.552	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			19	44	19	44	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671639	31671639	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:31671639C>A	ENST00000375483.3	+	3	636	c.636C>A	c.(634-636)ctC>ctA	p.L212L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	212	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L173L(1)									TGGGCGTGCTCGGCGAGGGTG	0.637																																						uc010zue.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(634-636)CTC>CTA		antimicrobial peptide RY2G5 precursor							35.0	41.0	39.0					20																	31671639		2198	4290	6488	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671639C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.636C>A	20.37:g.31671639C>A							p.L212L	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	651	+			212			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.636C>A	CCDS13213.2																																																																																				PASS	0.637	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		3	31	3	31	---	---	---	---
RALY	22913	broad.mit.edu	37	20	32660040	32660040	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:32660040C>A	ENST00000246194.3	+	3	662	c.160C>A	c.(160-162)Cac>Aac	p.H54N	RALY_ENST00000375114.3_Missense_Mutation_p.H54N|RALY_ENST00000493399.1_Intron	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.H54N(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGTTCTGTGCACAAGGGCTA	0.562																																						uc002xab.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)CAC>AAC		RNA binding protein (autoantigenic,							92.0	89.0	90.0					20																	32660040		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32660040C>A	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.160C>A	20.37:g.32660040C>A	ENSP00000246194:p.His54Asn					RALY_uc010zui.1_Missense_Mutation_p.H54N|RALY_uc002xac.2_Missense_Mutation_p.H54N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.H54N	p.H54N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			3	458	+			54			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.160C>A	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011765	0.93346	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	N	0.05351	-0.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.32903	-0.9889	10	0.62326	D	0.03	-24.957	19.4672	0.94948	0.0:1.0:0.0:0.0	.	54;54	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	N	54	ENSP00000364255:H54N;ENSP00000413638:H54N;ENSP00000246194:H54N;ENSP00000403744:H54N;ENSP00000415973:H54N	ENSP00000246194:H54N	H	+	1	0	RALY	32123701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.520000	0.81821	2.833000	0.97629	0.585000	0.79938	CAC		PASS	0.562	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			21	46	21	46	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33338098	33338098	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:33338098G>T	ENST00000374796.2	-	10	4470	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q634K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	634	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q634K(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGGACCATCTGGCCCTGGGAG	0.587																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1900-1902)CAG>AAG		nuclear receptor coactivator 6							113.0	101.0	105.0					20																	33338098		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33338098G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1900C>A	20.37:g.33338098G>T	ENSP00000363929:p.Gln634Lys					NCOA6_uc002xaw.2_Missense_Mutation_p.Q634K	p.Q634K	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	4471	-			634			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1900C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894066	0.91889	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.33438	1.41;1.41	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.36580	0.0972	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.01468	-1.1347	10	0.21014	T	0.42	-3.0982	20.8794	0.99867	0.0:0.0:1.0:0.0	.	634	Q14686	NCOA6_HUMAN	K	634	ENSP00000363929:Q634K;ENSP00000351894:Q634K	ENSP00000351894:Q634K	Q	-	1	0	NCOA6	32801759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.587	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		18	53	18	53	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34053864	34053864	+	Splice_Site	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:34053864G>T	ENST00000397527.1	+	7	1047	c.327G>T	c.(325-327)agG>agT	p.R109S	CEP250_ENST00000397524.1_Splice_Site_p.R109S|CEP250_ENST00000342580.4_Splice_Site_p.R109S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	109					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R109S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCAGTGCAGGTGTGAGAGTC	0.488																																						uc002xcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(325-327)AGG>AGT		centrosomal protein 2							60.0	56.0	58.0					20																	34053864		2203	4300	6503	SO:0001630	splice_region_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34053864G>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.327-1G>T	20.37:g.34053864G>T						CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'Flank	p.R109S	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		8	998	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		109			Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.327G>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509746	0.64522	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.62639	1.54;1.67;0.01;0.83	5.54	4.59	0.56863	.	0.000000	0.64402	D	0.000013	T	0.78039	0.4221	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79155	-0.1920	9	.	.	.	.	9.4796	0.38893	0.1639:0.0:0.8361:0.0	.	109	Q9BV73	CP250_HUMAN	S	109	ENSP00000380661:R109S;ENSP00000341541:R109S;ENSP00000380658:R109S;ENSP00000413827:R109S	.	R	+	3	2	CEP250	33517278	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.843000	0.48238	1.325000	0.45301	0.655000	0.94253	AGG		PASS	0.488	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	Missense_Mutation	14	60	14	60	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39991632	39991632	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:39991632G>T	ENST00000332312.3	-	4	769	c.577C>A	c.(577-579)Ctg>Atg	p.L193M		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	193						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L193M(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTTTGAGCCAGGCGCTGGACA	0.627																																						uc002xjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)CTG>ATG		elastin microfibril interfacer 3							28.0	28.0	28.0					20																	39991632		2202	4300	6502	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991632G>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.577C>A	20.37:g.39991632G>T	ENSP00000332806:p.Leu193Met						p.L193M	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	801	-		Myeloproliferative disorder(115;0.00425)	193					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.577C>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063689	0.76187	.	.	ENSG00000183798	ENST00000332312	T	0.50277	0.75	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	T	0.69940	0.3167	M	0.74258	2.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.70245	-0.4925	9	.	.	.	-10.5107	18.9308	0.92564	0.0:0.0:1.0:0.0	.	193	Q9NT22	EMIL3_HUMAN	M	193	ENSP00000332806:L193M	.	L	-	1	2	EMILIN3	39425046	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.096000	0.94182	2.497000	0.84241	0.455000	0.32223	CTG		PASS	0.627	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		6	20	6	20	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40944489	40944489	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:40944489G>T	ENST00000373187.1	-	12	2012	c.2013C>A	c.(2011-2013)gcC>gcA	p.A671A	PTPRT_ENST00000373184.1_Silent_p.A671A|PTPRT_ENST00000373190.1_Silent_p.A671A|PTPRT_ENST00000373201.1_Silent_p.A671A|PTPRT_ENST00000356100.2_Silent_p.A671A|PTPRT_ENST00000373193.3_Silent_p.A671A|PTPRT_ENST00000373198.4_Silent_p.A671A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	671	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.A671A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGCAGGTTGGCAGGCTTCA	0.512																																						uc002xkg.2																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2011-2013)GCC>GCA		protein tyrosine phosphatase, receptor type, T							124.0	126.0	125.0					20																	40944489		2012	4156	6168	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40944489G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2013C>A	20.37:g.40944489G>T						PTPRT_uc010ggj.2_Silent_p.A671A	p.A671A	NM_007050	NP_008981	O14522	PTPRT_HUMAN			12	2197	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	671			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2013C>A	CCDS42874.1																																																																																				PASS	0.512	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			22	56	22	56	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43030116	43030116	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:43030116C>A	ENST00000316099.4	+	1	193	c.104C>A	c.(103-105)aCg>aAg	p.T35K	HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.T35K|HNF4A_ENST00000415691.2_Missense_Mutation_p.T35K|HNF4A_ENST00000609795.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	35					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T35K(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGTGTTGACGATGGGCAAT	0.587																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(103-105)ACG>AAG		hepatocyte nuclear factor 4 alpha isoform b							139.0	106.0	117.0					20																	43030116		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030116C>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.104C>A	20.37:g.43030116C>A	ENSP00000312987:p.Thr35Lys					HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Missense_Mutation_p.T35K|HNF4A_uc002xlz.2_Missense_Mutation_p.T35K|HNF4A_uc010ggq.2_5'UTR	p.T35K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	193	+		Myeloproliferative disorder(115;0.0122)	35					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.104C>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194511	0.58017	.	.	ENSG00000101076	ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D	0.92099	-2.89;-2.97;-2.89	5.23	5.23	0.72850	.	820.741000	0.00166	U	0.000000	D	0.87787	0.6265	N	0.08118	0	0.34008	D	0.651119	B;B;P	0.38300	0.176;0.176;0.626	B;B;B	0.40534	0.031;0.079;0.332	T	0.76399	-0.2973	10	0.41790	T	0.15	.	13.4078	0.60924	0.1572:0.8428:0.0:0.0	.	35;35;35	P41235;F1D8S2;P41235-3	HNF4A_HUMAN;.;.	K	35	ENSP00000312987:T35K;ENSP00000410911:T35K;ENSP00000412111:T35K	ENSP00000312987:T35K	T	+	2	0	HNF4A	42463530	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.771000	0.68881	2.440000	0.82611	0.555000	0.69702	ACG		PASS	0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			15	28	15	28	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44594330	44594330	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:44594330G>A	ENST00000322927.2	-	7	1139	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	ZNF335_ENST00000426788.1_Missense_Mutation_p.P192S|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	347					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.P347S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTCCTTCGGGGCCTTGGGGTA	0.662																																						uc002xqw.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1039-1041)CCC>TCC		zinc finger protein 335							23.0	32.0	29.0					20																	44594330		2200	4294	6494	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44594330G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1039C>T	20.37:g.44594330G>A	ENSP00000325326:p.Pro347Ser					ZNF335_uc010zxk.1_Missense_Mutation_p.P192S|ZNF335_uc002xqx.1_Missense_Mutation_p.P315S	p.P347S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			7	1162	-		Myeloproliferative disorder(115;0.0122)	347					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1039C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694975	0.48202	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.11821	2.89;2.74	5.14	3.19	0.36642	.	0.063133	0.64402	D	0.000004	T	0.10981	0.0268	L	0.32530	0.975	0.53005	D	0.999967	B;B	0.25904	0.137;0.084	B;B	0.26310	0.068;0.031	T	0.09207	-1.0685	10	0.62326	D	0.03	-15.2272	9.2303	0.37432	0.0:0.158:0.6779:0.1641	.	192;347	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	347;124;192	ENSP00000325326:P347S;ENSP00000397098:P192S	ENSP00000243961:P124S	P	-	1	0	ZNF335	44027737	1.000000	0.71417	0.962000	0.40283	0.784000	0.44337	3.498000	0.53302	0.732000	0.32470	0.563000	0.77884	CCC		PASS	0.662	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		12	24	12	24	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47248919	47248919	+	Silent	SNP	G	G	A	rs41283546		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:47248919G>A	ENST00000371941.3	-	35	4444	c.4422C>T	c.(4420-4422)aaC>aaT	p.N1474N	PREX1_ENST00000396220.1_Missense_Mutation_p.T1509M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1474					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1509M(1)|p.N1474N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCCTCCACGTTCTCCAGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17890	0.0		0.0	False		,,,				2504	0.0					uc002xtw.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(4420-4422)AAC>AAT		phosphatidylinositol-3,4,		G		4,4400	8.1+/-20.4	0,4,2198	63.0	68.0	66.0		4422	-7.9	0.0	20	dbSNP_127	66	0,8600		0,0,4300	no	coding-synonymous	PREX1	NM_020820.3		0,4,6498	AA,AG,GG		0.0,0.0908,0.0308		1474/1660	47248919	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47248919G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4422C>T	20.37:g.47248919G>A						PREX1_uc002xtv.1_Silent_p.N771N	p.N1474N	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		35	4445	-			1474					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.4422C>T	CCDS13410.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.501	-0.101808	0.06967	9.08E-4	0.0	ENSG00000124126	ENST00000396220	T	0.62105	0.05	4.18	-7.92	0.01160	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.62343	-0.6874	6	0.87932	D	0	.	9.2942	0.37804	0.5507:0.0982:0.3512:0.0	rs41283546	.	.	.	M	1509	ENSP00000379522:T1509M	ENSP00000379522:T1509M	T	-	2	0	PREX1	46682326	0.000000	0.05858	0.001000	0.08648	0.305000	0.27757	-1.088000	0.03379	-1.585000	0.01634	-0.390000	0.06520	ACG		PASS	0.667	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		13	87	13	87	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47863852	47863852	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:47863852G>T	ENST00000396105.1	-	14	5955	c.5709C>A	c.(5707-5709)gaC>gaA	p.D1903E	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D1903E|ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1903							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1903E(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGGCCGTGTCAGACCAGG	0.517																																						uc002xui.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(5707-5709)GAC>GAA		zinc finger, NFX1-type containing 1							135.0	118.0	124.0					20																	47863852		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47863852G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5709C>A	20.37:g.47863852G>T	ENSP00000379412:p.Asp1903Glu						p.D1903E	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5956	-			1903					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5709C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	0.245	-1.010610	0.02095	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.85013	-1.93;-1.93	5.8	-4.11	0.03928	.	0.344446	0.30347	N	0.009837	T	0.51839	0.1698	N	0.01729	-0.75	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.53570	-0.8420	10	0.15066	T	0.55	-10.369	1.9997	0.03464	0.3704:0.3286:0.1767:0.1243	.	1903	Q9P2E3	ZNFX1_HUMAN	E	1903	ENSP00000360817:D1903E;ENSP00000379412:D1903E	ENSP00000360817:D1903E	D	-	3	2	ZNFX1	47297259	0.048000	0.20356	0.002000	0.10522	0.581000	0.36288	-0.995000	0.03712	-0.746000	0.04766	-0.300000	0.09419	GAC		PASS	0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		26	39	26	39	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60885757	60885757	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:60885757G>T	ENST00000252999.3	-	75	10476	c.10410C>A	c.(10408-10410)ggC>ggA	p.G3470G	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3470	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.G3470G(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)			CCGGGAGGCCGCCCACAAAGA	0.711																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(10408-10410)GGC>GGA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						12.0	17.0	15.0					20																	60885757		2168	4241	6409	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.chr20:60885757G>T	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.10410C>A	20.37:g.60885757G>T							p.G3470G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		75	10477	-	Breast(26;1.57e-08)		3470			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10410C>A	CCDS33502.1																																																																																				PASS	0.711	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	14	3	14	---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61461872	61461872	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:61461872C>A	ENST00000343916.3	+	24	1222	c.1219C>A	c.(1219-1221)Cag>Aag	p.Q407K		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	407	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.Q407K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCCCAGGGCCAGAAGGGCAG	0.706																																						uc002ydm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)CAG>AAG		alpha 3 type IX collagen precursor							23.0	27.0	25.0					20																	61461872		2188	4286	6474	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61461872C>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1219C>A	20.37:g.61461872C>A	ENSP00000341640:p.Gln407Lys						p.Q407K	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			24	1222	+	Breast(26;5.68e-08)		407			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1219C>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	1.090	-0.664171	0.03428	.	.	ENSG00000092758	ENST00000343916	D	0.94138	-3.36	5.12	3.13	0.36017	.	0.738191	0.13040	N	0.418601	D	0.83229	0.5209	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.66622	-0.5877	10	0.06236	T	0.91	.	7.6926	0.28577	0.2903:0.6344:0.0:0.0753	.	407	Q14050	CO9A3_HUMAN	K	407	ENSP00000341640:Q407K	ENSP00000341640:Q407K	Q	+	1	0	COL9A3	60932317	0.019000	0.18553	0.527000	0.27925	0.471000	0.32888	0.770000	0.26618	0.538000	0.28769	0.499000	0.49734	CAG		PASS	0.706	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		4	8	4	8	---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62120333	62120333	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:62120333A>G	ENST00000298049.7	-	6	1272	c.1202T>C	c.(1201-1203)aTc>aCc	p.I401T	EEF1A2_ENST00000217182.3_Missense_Mutation_p.I401T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	401					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.I401T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CATCTCCACGATGGCCGCGTC	0.637																																						uc002yfd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)ATC>ACC		eukaryotic translation elongation factor 1 alpha							58.0	56.0	56.0					20																	62120333		2198	4286	6484	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120333A>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1202T>C	20.37:g.62120333A>G	ENSP00000298049:p.Ile401Thr					EEF1A2_uc002yfe.1_Missense_Mutation_p.I401T|EEF1A2_uc010gkg.1_Intron	p.I401T	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1303	-	all_cancers(38;9.45e-12)		401					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1202T>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789230	0.70337	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.46063	0.88;0.88	3.14	3.14	0.36123	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.065762	0.56097	D	0.000028	T	0.68988	0.3061	H	0.94658	3.565	0.80722	D	1	P	0.52061	0.95	P	0.61328	0.887	T	0.77387	-0.2607	10	0.87932	D	0	-2.0268	11.6826	0.51466	1.0:0.0:0.0:0.0	.	401	Q05639	EF1A2_HUMAN	T	401	ENSP00000298049:I401T;ENSP00000217182:I401T	ENSP00000217182:I401T	I	-	2	0	EEF1A2	61590777	1.000000	0.71417	0.891000	0.34965	0.906000	0.53458	7.064000	0.76721	1.191000	0.43056	0.398000	0.26397	ATC		PASS	0.637	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		13	30	13	30	---	---	---	---
STMN3	50861	broad.mit.edu	37	20	62273640	62273640	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr20:62273640G>T	ENST00000370053.1	-	4	385	c.304C>A	c.(304-306)Cag>Aag	p.Q102K	STMN3_ENST00000540534.1_Missense_Mutation_p.Q91K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	102	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.Q102K(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TTCAGCACCTGCGCCTCCTGC	0.736																																						uc002yfr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)CAG>AAG		SCG10-like-protein							10.0	11.0	11.0					20																	62273640		2179	4274	6453	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273640G>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.304C>A	20.37:g.62273640G>T	ENSP00000359070:p.Gln102Lys					STMN3_uc011abb.1_Missense_Mutation_p.Q102K	p.Q102K	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	386	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		102			Potential.		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.304C>A	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.768552	0.90020	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	4.82	4.82	0.62117	.	0.104116	0.40222	U	0.001148	T	0.59018	0.2163	L	0.54323	1.7	0.53688	D	0.999972	P	0.46064	0.872	P	0.45377	0.478	T	0.58154	-0.7686	9	0.28530	T	0.3	-10.8607	17.9472	0.89043	0.0:0.0:1.0:0.0	.	102	Q9NZ72	STMN3_HUMAN	K	102;91	.	ENSP00000359070:Q102K	Q	-	1	0	STMN3	61744084	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.325000	0.72901	2.230000	0.72887	0.479000	0.44913	CAG		PASS	0.736	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		4	6	4	6	---	---	---	---
KRTAP13-2	337959	broad.mit.edu	37	21	31744167	31744167	+	Missense_Mutation	SNP	C	C	A	rs543403586	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr21:31744167C>A	ENST00000399889.2	-	1	390	c.365G>T	c.(364-366)tGt>tTt	p.C122F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	122						intermediate filament (GO:0005882)		p.C122F(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						ACTGGACCCACAGCCCACTGA	0.577																																						uc002ynz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)TGT>TTT		keratin associated protein 13-2							64.0	61.0	62.0					21																	31744167		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744167C>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.365G>T	21.37:g.31744167C>A	ENSP00000382777:p.Cys122Phe						p.C122F	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	391	-			122						Missense_Mutation	SNP	ENST00000399889.2	37	c.365G>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583312	0.28268	.	.	ENSG00000182816	ENST00000399889	T	0.03441	3.93	4.78	2.95	0.34219	.	0.171022	0.27971	N	0.017116	T	0.08802	0.0218	L	0.58428	1.81	0.24609	N	0.993732	D	0.53312	0.959	P	0.59056	0.851	T	0.13176	-1.0519	10	0.27082	T	0.32	.	6.4524	0.21910	0.0:0.7885:0.0:0.2115	.	122	Q52LG2	KR132_HUMAN	F	122	ENSP00000382777:C122F	ENSP00000382777:C122F	C	-	2	0	KRTAP13-2	30666038	0.012000	0.17670	0.856000	0.33681	0.920000	0.55202	0.739000	0.26173	1.327000	0.45338	0.655000	0.94253	TGT		PASS	0.577	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			11	32	11	32	---	---	---	---
KRTAP19-3	337970	broad.mit.edu	37	21	31864270	31864270	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr21:31864270G>T	ENST00000334063.4	-	1	5	c.6C>A	c.(4-6)agC>agA	p.S2R		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	2						intermediate filament (GO:0005882)		p.S2R(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TGCCGTAGTAGCTCATGGTGT	0.547																																						uc002yog.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)AGC>AGA		keratin associated protein 19-3							138.0	125.0	129.0					21																	31864270		2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864270G>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.6C>A	21.37:g.31864270G>T	ENSP00000386376:p.Ser2Arg						p.S2R	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			1	6	-			2						Missense_Mutation	SNP	ENST00000334063.4	37	c.6C>A	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.002088	0.19121	.	.	ENSG00000244025	ENST00000334063	T	0.11821	2.74	5.7	5.7	0.88788	.	0.382327	0.19144	U	0.121606	T	0.38134	0.1029	.	.	.	0.35698	D	0.815397	D	0.69078	0.997	D	0.68621	0.959	T	0.41610	-0.9499	9	0.87932	D	0	.	15.7153	0.77663	0.0:0.0:1.0:0.0	.	2	Q7Z4W3	KR193_HUMAN	R	2	ENSP00000386376:S2R	ENSP00000386376:S2R	S	-	3	2	KRTAP19-3	30786141	0.030000	0.19436	0.236000	0.24074	0.075000	0.17131	0.654000	0.24918	2.861000	0.98227	0.655000	0.94253	AGC		PASS	0.547	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			42	87	42	87	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18301125	18301125	+	Silent	SNP	G	G	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:18301125G>A	ENST00000441493.2	-	26	4654	c.4302C>T	c.(4300-4302)tcC>tcT	p.S1434S	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1434	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.S1434S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATGTTGGAGGAGCTCCCGT	0.711																																						uc002zng.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(4300-4302)TCC>TCT		microtubule associated monoxygenase, calponin							17.0	21.0	19.0					22																	18301125		2006	4134	6140	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301125G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4302C>T	22.37:g.18301125G>A						MICAL3_uc011agl.1_Silent_p.S1350S|MICAL3_uc010gre.1_5'Flank	p.S1434S	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4655	-		all_epithelial(15;0.198)	1434			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.4302C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993252	0.19043	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.42	0.924	0.19418	.	.	.	.	.	T	0.43366	0.1244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24048	-1.0171	4	.	.	.	.	2.5044	0.04641	0.1511:0.2186:0.4545:0.1758	.	.	.	.	L	416	.	.	P	-	2	0	XXbac-B461K10.4	16681125	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	0.201000	0.17276	0.290000	0.22444	0.455000	0.32223	CCT		PASS	0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			11	33	11	33	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21107265	21107265	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:21107265C>A	ENST00000572273.1	-	25	2969	c.2739G>T	c.(2737-2739)ctG>ctT	p.L913L	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Silent_p.L971L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	913					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L913L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTCACCAACAGGAACTGAG	0.507																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2737-2739)CTG>CTT		phosphatidylinositol 4-kinase type 3 alpha							157.0	141.0	146.0					22																	21107265		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21107265C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2739G>T	22.37:g.21107265C>A							p.L913L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		25	2970	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	913					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.2739G>T																																																																																					PASS	0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		19	111	19	111	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164321	26164321	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:26164321G>C	ENST00000407587.2	+	4	607	c.438G>C	c.(436-438)agG>agC	p.R146S	MYO18B_ENST00000335473.7_Missense_Mutation_p.R146S|MYO18B_ENST00000536101.1_Missense_Mutation_p.R146S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	146						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R146S(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTTCAAGAGGGGCGTGAGGA	0.597																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(436-438)AGG>AGC		myosin XVIIIB							35.0	40.0	38.0					22																	26164321		2024	4188	6212	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164321G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.438G>C	22.37:g.26164321G>C	ENSP00000386096:p.Arg146Ser					MYO18B_uc003aca.1_Missense_Mutation_p.R27S|MYO18B_uc010guy.1_Missense_Mutation_p.R27S|MYO18B_uc010guz.1_Missense_Mutation_p.R27S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.R146S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	688	+			146					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.438G>C		.	.	.	.	.	.	.	.	.	.	G	13.54	2.268194	0.40095	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89617	-2.52;-2.52;-2.54	5.01	-3.86	0.04230	.	0.185599	0.26522	N	0.023919	D	0.82692	0.5092	M	0.65975	2.015	0.09310	N	1	P;P;P	0.40731	0.608;0.728;0.728	B;B;B	0.37943	0.134;0.261;0.261	T	0.76165	-0.3059	10	0.87932	D	0	.	6.337	0.21302	0.4553:0.1238:0.4209:0.0	.	146;146;146	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	S	146	ENSP00000441229:R146S;ENSP00000334563:R146S;ENSP00000386096:R146S	ENSP00000334563:R146S	R	+	3	2	MYO18B	24494321	0.107000	0.21998	0.493000	0.27502	0.274000	0.26718	-0.262000	0.08682	-0.321000	0.08627	-0.350000	0.07774	AGG		PASS	0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	12	6	12	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29938946	29938946	+	Splice_Site	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:29938946C>A	ENST00000490103.1	-	5	477		c.e5-1		THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397871.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.?(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGCTTAGCCTGAAAGGAAA	0.458																																						uc003afr.2																			1	Unknown(1)		lung(1)	breast(3)	3						c.e6-1		THO complex 5							80.0	63.0	69.0					22																	29938946		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29938946C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.355-1G>T	22.37:g.29938946C>A						THOC5_uc003afs.2_Splice_Site_p.A119_splice|THOC5_uc003aft.2_Splice_Site_p.A119_splice|THOC5_uc003afu.2_Splice_Site_p.A119_splice|THOC5_uc010gvo.2_Splice_Site|THOC5_uc003afv.1_Splice_Site_p.A119_splice|THOC5_uc003afw.1_Intron	p.A119_splice	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			6	690	-								O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	c.355_splice	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232795	0.79688	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.191	0.93666	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC5	28268946	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.526000	0.81920	2.536000	0.85505	0.558000	0.71614	.		PASS	0.458	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	5	13	5	13	---	---	---	---
CCDC157	550631	broad.mit.edu	37	22	30772728	30772728	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:30772728C>A	ENST00000405659.1	+	12	2962	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.P751P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	751								p.P700P(1)|p.P751P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGGAGCGGCCCATGTAGCCTG	0.632																																						uc011aku.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(2251-2253)CCC>CCA		coiled-coil domain containing 157							15.0	15.0	15.0					22																	30772728		2135	4213	6348	SO:0001819	synonymous_variant	550631							g.chr22:30772728C>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2253C>A	22.37:g.30772728C>A						CCDC157_uc011akv.1_Silent_p.P751P|uc003aho.1_5'Flank	p.P751P	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			12	2913	+			751					Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	c.2253C>A	CCDS33632.2																																																																																				PASS	0.632	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		6	13	6	13	---	---	---	---
TCN2	6948	broad.mit.edu	37	22	31008891	31008891	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:31008891C>A	ENST00000215838.3	+	3	783	c.289C>A	c.(289-291)Cag>Aag	p.Q97K	TCN2_ENST00000407817.3_Missense_Mutation_p.Q97K|TCN2_ENST00000405742.3_Missense_Mutation_p.Q93K			P20062	TCO2_HUMAN	transcobalamin II	97					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.Q97K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGTGACTGCCAGGGCAAGCC	0.597																																						uc003aip.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(289-291)CAG>AAG		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						64.0	58.0	60.0					22																	31008891		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008891C>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.289C>A	22.37:g.31008891C>A	ENSP00000215838:p.Gln97Lys					TCN2_uc003aiq.1_Missense_Mutation_p.Q93K|TCN2_uc003air.1_Missense_Mutation_p.Q97K	p.Q97K	NM_000355	NP_000346	P20062	TCO2_HUMAN			3	447	+			97					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.289C>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806648	0.31961	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35789	2.61;2.61;1.29	5.31	3.15	0.36227	.	0.584620	0.19867	N	0.104297	T	0.25195	0.0612	L	0.31120	0.905	0.23806	N	0.996799	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.16364	-1.0405	10	0.15499	T	0.54	-3.3737	13.0756	0.59085	0.0:0.6739:0.3261:0.0	.	97;93;97	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	97;93;97	ENSP00000215838:Q97K;ENSP00000385914:Q93K;ENSP00000384914:Q97K	ENSP00000215838:Q97K	Q	+	1	0	TCN2	29338891	0.001000	0.12720	0.005000	0.12908	0.123000	0.20343	0.395000	0.20850	0.586000	0.29626	0.655000	0.94253	CAG		PASS	0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		7	25	7	25	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32587046	32587046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:32587046C>A	ENST00000400237.1	-	5	1785	c.850G>T	c.(850-852)Gga>Tga	p.G284*	RFPL2_ENST00000400236.3_Nonsense_Mutation_p.G194*|RFPL2_ENST00000248980.4_Nonsense_Mutation_p.G223*|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Nonsense_Mutation_p.G194*			O75678	RFPL2_HUMAN	ret finger protein-like 2	284	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.G223*(1)|p.G194*(1)|p.G284*(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						AGGCGGCCTCCATCCCTCAAA	0.552																																						uc003amg.3																			3	Substitution - Nonsense(3)		lung(3)	skin(1)	1						c.(850-852)GGA>TGA		ret finger protein-like 2 isoform 2							64.0	79.0	74.0					22																	32587046		2203	4300	6503	SO:0001587	stop_gained	10739						zinc ion binding	g.chr22:32587046C>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.850G>T	22.37:g.32587046C>A	ENSP00000383096:p.Gly284*					RFPL2_uc003ame.3_Nonsense_Mutation_p.G223*|RFPL2_uc003amf.3_Nonsense_Mutation_p.G194*|RFPL2_uc003amh.3_Nonsense_Mutation_p.G194*	p.G284*	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1786	-			284			B30.2/SPRY.			Nonsense_Mutation	SNP	ENST00000400237.1	37	c.850G>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	39	7.809867	0.98501	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	.	.	.	0.311	0.311	0.15831	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.4489	0.21892	0.0:0.9998:0.0:2.0E-4	.	.	.	.	X	223;194;194;284	.	ENSP00000248980:G223X	G	-	1	0	RFPL2	30917046	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.816000	0.27267	0.392000	0.25172	0.398000	0.26397	GGA		PASS	0.552	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		17	44	17	44	---	---	---	---
TXN2	25828	broad.mit.edu	37	22	36876629	36876629	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:36876629G>T	ENST00000216185.2	-	2	722	c.256C>A	c.(256-258)Cac>Aac	p.H86N	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.H86N			Q99757	THIOM_HUMAN	thioredoxin 2	86	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)	p.H86N(2)		breast(1)|lung(1)|prostate(1)	3						CACTGTGCGTGGAAATCCACA	0.483																																						uc003apk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(256-258)CAC>AAC		thioredoxin 2 precursor							133.0	118.0	123.0					22																	36876629		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876629G>T	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.256C>A	22.37:g.36876629G>T	ENSP00000216185:p.His86Asn					TXN2_uc003apl.1_RNA	p.H86N	NM_012473	NP_036605	Q99757	THIOM_HUMAN			2	333	-			86			Thioredoxin.		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.256C>A	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953446	0.92660	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.22336	1.96;1.96	5.62	5.62	0.85841	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.147144	0.64402	D	0.000011	T	0.45597	0.1350	M	0.62016	1.91	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.08066	-1.0740	10	0.30854	T	0.27	-11.4585	19.78	0.96412	0.0:0.0:1.0:0.0	.	86	Q99757	THIOM_HUMAN	N	86	ENSP00000216185:H86N;ENSP00000385393:H86N	ENSP00000216185:H86N	H	-	1	0	TXN2	35206575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.241000	0.95402	2.677000	0.91161	0.562000	0.76482	CAC		PASS	0.483	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		15	55	15	55	---	---	---	---
TAB1	10454	broad.mit.edu	37	22	39824059	39824059	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:39824059C>A	ENST00000216160.6	+	10	1240	c.1178C>A	c.(1177-1179)cCa>cAa	p.P393Q	TAB1_ENST00000331454.3_Missense_Mutation_p.P393Q	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	393					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)	p.P393Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GTGTCTGTGCCATACTCCAGC	0.622																																						uc003axt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1177-1179)CCA>CAA		mitogen-activated protein kinase kinase kinase 7							148.0	115.0	126.0					22																	39824059		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39824059C>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1178C>A	22.37:g.39824059C>A	ENSP00000216160:p.Pro393Gln					TAB1_uc003axr.2_Missense_Mutation_p.P469Q|TAB1_uc011aok.1_Missense_Mutation_p.P227Q|TAB1_uc003axu.1_Missense_Mutation_p.P393Q	p.P393Q	NM_006116	NP_006107	Q15750	TAB1_HUMAN			10	1227	+			393					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1178C>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182549	0.78677	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.69040	-0.32;-0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.997	T	0.80696	-0.1267	10	0.62326	D	0.03	-14.165	19.1256	0.93382	0.0:1.0:0.0:0.0	.	393;393;537	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	Q	393	ENSP00000216160:P393Q;ENSP00000333049:P393Q	ENSP00000216160:P393Q	P	+	2	0	TAB1	38154005	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	7.360000	0.79487	2.512000	0.84698	0.555000	0.69702	CCA		PASS	0.622	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		12	26	12	26	---	---	---	---
RRP7A	27341	broad.mit.edu	37	22	42912112	42912112	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:42912112C>A	ENST00000323013.6	-	3	262	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	83	RRM.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G83C(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TGGACGAGGCCACAGGTGGAC	0.612																																						uc003bcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(247-249)GGC>TGC		ribosomal RNA processing 7 homolog A							48.0	45.0	46.0					22																	42912112		2203	4300	6503	SO:0001583	missense	27341						nucleotide binding|RNA binding	g.chr22:42912112C>A	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.247G>T	22.37:g.42912112C>A	ENSP00000321449:p.Gly83Cys					SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Missense_Mutation_p.G106C	p.G83C	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN			3	263	-			83			RRM.		A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	c.247G>T	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863955	0.32884	.	.	ENSG00000189306	ENST00000323013	T	0.46819	0.86	3.93	3.93	0.45458	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.112873	0.64402	D	0.000011	T	0.77850	0.4192	H	0.97390	3.995	0.44061	D	0.996803	D	0.89917	1.0	D	0.87578	0.998	D	0.84840	0.0807	10	0.87932	D	0	-31.9773	12.0106	0.53284	0.1736:0.8264:0.0:0.0	.	83	Q9Y3A4	RRP7A_HUMAN	C	83	ENSP00000321449:G83C	ENSP00000321449:G83C	G	-	1	0	RRP7A	41242056	0.742000	0.28228	0.041000	0.18516	0.003000	0.03518	2.755000	0.47540	2.124000	0.65301	0.514000	0.50259	GGC		PASS	0.612	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		7	12	7	12	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50720445	50720445	+	Silent	SNP	A	A	C			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr22:50720445A>C	ENST00000449103.1	-	20	3323	c.3183T>G	c.(3181-3183)ccT>ccG	p.P1061P	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.P1061P			O15031	PLXB2_HUMAN	plexin B2	1061	IPT/TIG 3.				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.P1104P(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)		CTGGCTCCTCAGGCACAGCCG	0.642																																						uc003bkv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3181-3183)CCT>CCG		plexin B2 precursor							49.0	56.0	54.0					22																	50720445		2112	4224	6336	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720445A>C		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.3183T>G	22.37:g.50720445A>C						PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.P46P	p.P1061P	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3289	-		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)	1061			IPT/TIG 3.|Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3183T>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	a	2.156	-0.393297	0.04899	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-6.14	0.02111	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.21325	N	0.999727	.	.	.	.	.	.	T	0.31336	-0.9947	4	.	.	.	.	5.4804	0.16721	0.6065:0.1206:0.1801:0.0928	.	.	.	.	R	79	.	.	L	-	2	0	PLXNB2	49062572	0.000000	0.05858	0.632000	0.29296	0.204000	0.24138	-3.084000	0.00612	-0.990000	0.03481	-0.741000	0.03529	CTG		PASS	0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	24	7	24	---	---	---	---
STS	412	broad.mit.edu	37	X	7177396	7177396	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:7177396G>T	ENST00000217961.4	+	5	624	c.404G>T	c.(403-405)tGg>tTg	p.W135L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	135					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.W135L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TCAGGGAAATGGCACCTTGGG	0.453									Ichthyosis																													uc004cry.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(403-405)TGG>TTG		steryl-sulfatase precursor	Estrone(DB00655)						135.0	112.0	120.0					X																	7177396		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177396G>T	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.404G>T	X.37:g.7177396G>T	ENSP00000217961:p.Trp135Leu						p.W135L	NM_000351	NP_000342	P08842	STS_HUMAN			5	649	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	135			Lumenal.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.404G>T	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296613	0.60086	.	.	ENSG00000101846	ENST00000217961	D	0.95035	-3.59	3.83	3.83	0.44106	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.95850	3.73	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.99100	1.0843	10	0.87932	D	0	.	13.895	0.63766	0.0:0.0:1.0:0.0	.	135	P08842	STS_HUMAN	L	135	ENSP00000217961:W135L	ENSP00000217961:W135L	W	+	2	0	STS	7187396	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.519000	0.90563	1.533000	0.49186	0.600000	0.82982	TGG		PASS	0.453	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		19	10	19	10	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14861742	14861742	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:14861742C>A	ENST00000324138.3	-	9	2680	c.2527G>T	c.(2527-2529)Gct>Tct	p.A843S	FANCB_ENST00000398334.1_Missense_Mutation_p.A843S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	843					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.A843S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGAACCTCAGCTACTTTCAAA	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2527-2529)GCT>TCT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							114.0	103.0	107.0					X																	14861742		2203	4300	6503	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861742C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2527G>T	X.37:g.14861742C>A	ENSP00000326819:p.Ala843Ser					FANCB_uc004cwh.1_Missense_Mutation_p.A843S	p.A843S	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			10	2795	-	Hepatocellular(33;0.183)		843					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.2527G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161464	0.38119	.	.	ENSG00000181544	ENST00000324138;ENST00000398334	.	.	.	5.43	2.55	0.30701	.	0.339151	0.31167	N	0.008130	T	0.51787	0.1695	M	0.63843	1.955	0.30501	N	0.770355	D	0.76494	0.999	D	0.67382	0.951	T	0.53521	-0.8427	9	0.59425	D	0.04	-1.6632	3.3521	0.07156	0.1375:0.5712:0.1306:0.1607	.	843	Q8NB91	FANCB_HUMAN	S	843	.	ENSP00000326819:A843S	A	-	1	0	FANCB	14771663	0.992000	0.36948	0.102000	0.21198	0.271000	0.26615	0.397000	0.20883	0.085000	0.17107	0.594000	0.82650	GCT		PASS	0.328	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		49	22	49	22	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	28807481	28807481	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:28807481C>A	ENST00000378993.1	+	2	694	c.21C>A	c.(19-21)caC>caA	p.H7Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.H7Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	7					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.H7Q(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CGATTCCACACTTGATTCTCT	0.353																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(19-21)CAC>CAA		interleukin 1 receptor accessory protein-like 1							89.0	80.0	83.0					X																	28807481		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:28807481C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.21C>A	X.37:g.28807481C>A	ENSP00000368278:p.His7Gln						p.H7Q	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			2	529	+			7					A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.21C>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158889	0.38119	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03635	3.86;3.86	5.78	4.83	0.62350	Immunoglobulin-like (1);	0.312856	0.31392	N	0.007722	T	0.02083	0.0065	N	0.08118	0	0.26232	N	0.979004	B	0.06786	0.001	B	0.09377	0.004	T	0.44772	-0.9306	10	0.29301	T	0.29	.	6.55	0.22427	0.0:0.7451:0.0:0.2549	.	7	Q9NZN1	IRPL1_HUMAN	Q	7	ENSP00000368278:H7Q;ENSP00000305200:H7Q	ENSP00000305200:H7Q	H	+	3	2	IL1RAPL1	28717402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.710000	0.37920	0.981000	0.38548	0.594000	0.82650	CAC		PASS	0.353	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		24	14	24	14	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65247899	65247899	+	Silent	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:65247899G>T	ENST00000374737.4	-	4	858	c.750C>A	c.(748-750)ccC>ccA	p.P250P	VSIG4_ENST00000412866.2_Silent_p.P156P|VSIG4_ENST00000455586.2_Silent_p.P250P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	250					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P250P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCTTTCAAGGGGTATGTCA	0.463																																						uc004dwh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)CCC>CCA		V-set and immunoglobulin domain containing 4							210.0	163.0	179.0					X																	65247899		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65247899G>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.750C>A	X.37:g.65247899G>T						VSIG4_uc004dwi.2_Silent_p.P156P|VSIG4_uc010nkq.1_Silent_p.P250P|VSIG4_uc004dwj.2_Silent_p.P250P|VSIG4_uc011moy.1_Silent_p.P156P|VSIG4_uc004dwk.2_Silent_p.P250P|VSIG4_uc004dwl.2_Silent_p.P146P	p.P250P	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			4	877	-			250			Extracellular (Potential).		Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.750C>A	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443699	0.01089	.	.	ENSG00000155659	ENST00000427538	.	.	.	4.41	0.471	0.16752	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	0.0938	2.9801	0.05951	0.3465:0.0:0.458:0.1955	.	.	.	.	I	177	.	.	L	-	1	0	VSIG4	65164624	0.107000	0.21998	0.014000	0.15608	0.054000	0.15201	0.176000	0.16782	-0.235000	0.09767	0.523000	0.50628	CTT		PASS	0.463	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		15	12	15	12	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123654528	123654528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:123654528G>T	ENST00000371130.3	-	18	3203	c.3140C>A	c.(3139-3141)tCa>tAa	p.S1047*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.S1047*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1047					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1049*(1)									AGGAATCGTTGAATGTGTCAG	0.502																																						uc004euj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(3139-3141)TCA>TAA		odz, odd Oz/ten-m homolog 1 isoform 3							116.0	102.0	107.0					X																	123654528		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123654528G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3140C>A	X.37:g.123654528G>T	ENSP00000360171:p.Ser1047*					ODZ1_uc011muj.1_Nonsense_Mutation_p.S1046*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.S1047*	p.S1047*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			18	3204	-			1047			Extracellular (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.3140C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	41	8.545267	0.98857	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.58	5.58	0.84498	.	0.155214	0.45867	D	0.000324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5439	0.91039	0.0:0.0:1.0:0.0	.	.	.	.	X	1047	.	ENSP00000360171:S1047X	S	-	2	0	ODZ1	123482209	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	9.813000	0.99286	2.321000	0.78463	0.600000	0.82982	TCA		PASS	0.502	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		42	12	42	12	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129139248	129139248	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:129139248G>T	ENST00000218147.7	+	2	238	c.41G>T	c.(40-42)tGg>tTg	p.W14L	BCORL1_ENST00000607874.1_3'UTR|BCORL1_ENST00000540052.1_Missense_Mutation_p.W14L|BCORL1_ENST00000303743.5_Missense_Mutation_p.W14L|BCORL1_ENST00000359304.2_Missense_Mutation_p.W14L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	14					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.W14L(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTGCACAACTGGACCAGTTCT	0.592																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(40-42)TGG>TTG		BCL6 co-repressor-like 1							168.0	143.0	151.0					X																	129139248		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129139248G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.41G>T	X.37:g.129139248G>T	ENSP00000218147:p.Trp14Leu						p.W14L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			2	155	+			14					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.41G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549134	0.65311	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.77229	-1.04;-0.69;-1.08;-1.04	4.72	4.72	0.59763	.	0.000000	0.30401	N	0.009706	T	0.81307	0.4795	N	0.24115	0.695	0.38990	D	0.959132	D	0.89917	1.0	D	0.79108	0.992	D	0.85614	0.1260	10	0.87932	D	0	-5.74	17.0962	0.86635	0.0:0.0:1.0:0.0	.	14	Q5H9F3	BCORL_HUMAN	L	14	ENSP00000218147:W14L;ENSP00000307541:W14L;ENSP00000352253:W14L;ENSP00000437775:W14L	ENSP00000218147:W14L	W	+	2	0	BCORL1	128966929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.002000	0.76304	1.956000	0.56807	0.436000	0.28706	TGG		PASS	0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		43	32	43	32	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291533	141291533	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:141291533C>T	ENST00000247452.3	-	3	588	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	81					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E81K(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGCTCTCGGTAAGATTT	0.522										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(241-243)GAG>AAG		melanoma antigen family C, 2							75.0	68.0	71.0					X																	141291533		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291533C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.241G>A	X.37:g.141291533C>T	ENSP00000354660:p.Glu81Lys	HNSCC(46;0.14)					p.E81K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	589	-	Acute lymphoblastic leukemia(192;6.56e-05)		81					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.241G>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324213	0.10900	.	.	ENSG00000046774	ENST00000247452	T	0.04603	3.59	0.149	0.149	0.14863	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02304	0.0071	N	0.14661	0.345	0.09310	N	1	B	0.32731	0.382	B	0.21151	0.033	T	0.48019	-0.9071	8	0.25106	T	0.35	.	.	.	.	.	81	Q9UBF1	MAGC2_HUMAN	K	81	ENSP00000354660:E81K	ENSP00000354660:E81K	E	-	1	0	MAGEC2	141119199	.	.	0.012000	0.15200	0.017000	0.09413	.	.	0.177000	0.19895	0.179000	0.17066	GAG		PASS	0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		6	24	6	24	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153627841	153627841	+	Silent	SNP	C	C	A			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:153627841C>A	ENST00000369817.2	+	5	672	c.96C>A	c.(94-96)cgC>cgA	p.R32R	RPL10_ENST00000406022.2_5'UTR|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Silent_p.R32R			P27635	RL10_HUMAN	ribosomal protein L10	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R32R(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAAGATTCGCATTTTTGACC	0.527											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004fkm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)CGC>CGA		ribosomal protein L10							133.0	128.0	130.0					X																	153627841		2203	4300	6503	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627841C>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.96C>A	X.37:g.153627841C>A			OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.R32R|RPL10_uc004fkn.1_Silent_p.R32R|RPL10_uc004fkp.1_Silent_p.R32R|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	p.R32R	NM_006013	NP_006004	P27635	RL10_HUMAN			4	284	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		32					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Silent	SNP	ENST00000369817.2	37	c.96C>A	CCDS14746.1																																																																																				PASS	0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		6	71	6	71	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153940624	153940624	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chrX:153940624G>T	ENST00000369575.3	-	4	977	c.946C>A	c.(946-948)Cat>Aat	p.H316N	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.H317N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	316					macrophage differentiation (GO:0030225)			p.H316N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGACAGATGGCTTGGCTTA	0.498																																						uc004fmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(946-948)CAT>AAT		Gab3 protein isoform 2							118.0	110.0	113.0					X																	153940624		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153940624G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.946C>A	X.37:g.153940624G>T	ENSP00000358588:p.His316Asn					GAB3_uc004fmk.1_Missense_Mutation_p.H317N|GAB3_uc010nve.1_Missense_Mutation_p.H317N|GAB3_uc004fml.1_Intron	p.H316N	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			4	994	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		316					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.946C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104227	0.56291	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.22539	1.95;1.95;1.95	5.63	2.35	0.29111	.	0.044895	0.85682	D	0.000000	T	0.31199	0.0789	M	0.76002	2.32	0.42561	D	0.993145	D;D;D	0.57899	0.981;0.981;0.981	P;P;P	0.52109	0.69;0.69;0.69	T	0.03112	-1.1071	10	0.35671	T	0.21	-3.7696	8.1794	0.31302	0.3185:0.0:0.6815:0.0	.	317;317;316	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	316;317;317	ENSP00000358588:H316N;ENSP00000358581:H317N;ENSP00000399588:H317N	ENSP00000358581:H317N	H	-	1	0	GAB3	153593818	1.000000	0.71417	0.539000	0.28077	0.883000	0.51084	4.404000	0.59735	0.041000	0.15688	-0.332000	0.08345	CAT		PASS	0.498	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		36	26	36	26	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12405431	12405432	+	Splice_Site	DEL	AC	AC	-			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:12405431_12405432delAC	ENST00000358136.3	+	43	9016_9017	c.8886_8887delAC	c.(8884-8889)agacac>agac	p.H2963fs	VPS13D_ENST00000356315.4_Splice_Site_p.H2938fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCCTGACAGACACACCCATGA	0.426																																						uc001atv.2																			0				ovary(4)|pancreas(1)	5						c.(8884-8889)AGACACfs		vacuolar protein sorting 13D isoform 1																																				SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12405431_12405432delAC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8886-1AC>-	1.37:g.12405435_12405436delAC						VPS13D_uc001atw.2_Frame_Shift_Del_p.R2937fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.R2149fs	p.R2962fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	43	9027_9028	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2961_2962						Frame_Shift_Del	DEL	ENST00000358136.3	37	c.8886_8887delAC	CCDS30588.1																																																																																					0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Frame_Shift_Del	61	35	61	35	---	---	---	---
LINC01347	731275	broad.mit.edu	37	1	243251423	243251423	+	lincRNA	DEL	A	A	-	rs200578702	byFrequency	TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr1:243251423delA	ENST00000417964.1	-	0	1346																											actccatctcaaaaaaaaaaa	0.458													|||unknown(NO_COVERAGE)	1468	0.293131	0.3033	0.3098	5008	,	,		13610	0.3333		0.2396	False		,,,				2504	0.2812					uc001hzq.1																			0													Homo sapiens cDNA FLJ52610 complete cds.																																						0							g.chr1:243251423delA																													1.37:g.243251423delA														8		-									RNA	DEL	ENST00000417964.1	37	c.1209delT																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			4	2	4	2	---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144457734	144457745	+	In_Frame_Del	DEL	CCTGACGCAGAT	CCTGACGCAGAT	-	rs374955468		TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr8:144457734_144457745delCCTGACGCAGAT	ENST00000289013.6	+	2	173_184	c.72_83delCCTGACGCAGAT	c.(70-84)tccctgacgcagatc>tcc	p.LTQI25del		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	25					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGTGACTCCCTGACGCAGATCCAGTGCGGC	0.665																																						uc003yyb.2																			0				large_intestine(1)	1						c.(70-84)TCCCTGACGCAGATC>TCC		rhophilin 1																																				SO:0001651	inframe_deletion	114822				signal transduction	intracellular		g.chr8:144457734_144457745delCCTGACGCAGAT	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.72_83delCCTGACGCAGAT	8.37:g.144457734_144457745delCCTGACGCAGAT	ENSP00000289013:p.Leu25_Ile28del						p.LTQI25del	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		2	205_216	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		25_28					Q8TAV1|Q96PV9	In_Frame_Del	DEL	ENST00000289013.6	37	c.72_83delCCTGACGCAGAT	CCDS47927.1																																																																																					0.665	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			6	3	6	3	---	---	---	---
Unknown	0	broad.mit.edu	37	9	69440235	69440236	+	IGR	INS	-	-	TA			TCGA-22-5472-01A-01D-1632-08	TCGA-22-5472-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	be780766-483f-42f5-b0d0-11d23a940156	fccb5ef4-79d7-46c5-9c4e-b060fe9dee96	g.chr9:69440235_69440236insTA								ANKRD20A4 (14675 upstream) : AL445665.2 (147141 downstream)																							AATTAGTAAACTACAAGAATAT	0.292																																						uc010mnx.1																			0											c.(319-321)CTAfs		coiled-coil domain containing 29																																				SO:0001628	intergenic_variant	0							g.chr9:69440235_69440236insTA																													9.37:g.69440236_69440237dupTA							p.L107fs	NM_001098806	NP_001092276					3	488_489	+									Frame_Shift_Ins	INS		37	c.319_320insTA																																																																																				0		0.292									32	21	32	21	---	---	---	---
