#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
PLA2G2A	5320	broad.mit.edu	37	1	20304528	20304528	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:20304528G>A	ENST00000375111.3	-	5	543	c.272C>T	c.(271-273)tCg>tTg	p.S91L	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.S91L	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	91					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.S91L(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	TCTGCTCCCCGAGTTGCTAAA	0.507																																						uc001bcu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TCG>TTG		phospholipase A2, group IIA precursor							122.0	111.0	115.0					1																	20304528		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304528G>A	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.272C>T	1.37:g.20304528G>A	ENSP00000364252:p.Ser91Leu					PLA2G2A_uc001bcv.2_Missense_Mutation_p.S91L|PLA2G2A_uc010oda.1_Missense_Mutation_p.S91L|PLA2G2A_uc010odb.1_Missense_Mutation_p.S91L	p.S91L	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	490	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	91					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.272C>T	CCDS201.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512422	0.27123	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.27720	1.65;1.65	5.1	-10.2	0.00374	Phospholipase A2 (3);	5.918930	0.00397	N	0.000046	T	0.23370	0.0565	L	0.50993	1.605	0.09310	N	1	B	0.20368	0.044	B	0.09377	0.004	T	0.15235	-1.0444	10	0.72032	D	0.01	.	5.3611	0.16087	0.1865:0.5363:0.095:0.1822	.	91	P14555	PA2GA_HUMAN	L	91	ENSP00000383364:S91L;ENSP00000364252:S91L	ENSP00000364252:S91L	S	-	2	0	PLA2G2A	20177115	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.790000	0.00098	-3.382000	0.00175	-1.500000	0.00958	TCG		PASS	0.507	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		14	69	14	69	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24426202	24426202	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:24426202G>T	ENST00000374434.3	-	6	786	c.624C>A	c.(622-624)aaC>aaA	p.N208K	MYOM3_ENST00000329601.7_Missense_Mutation_p.N208K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.N209K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	208	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.N208K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTAGTTGTTGGTGATTC	0.582																																						uc001bin.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(622-624)AAC>AAA		myomesin family, member 3							118.0	123.0	121.0					1																	24426202		2005	4161	6166	SO:0001583	missense	127294							g.chr1:24426202G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.624C>A	1.37:g.24426202G>T	ENSP00000363557:p.Asn208Lys					MYOM3_uc001bio.2_Missense_Mutation_p.N208K|MYOM3_uc001bip.1_5'UTR	p.N208K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	6	787	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	208			Ig-like C2-type 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.624C>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671092	0.67814	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.66460	-0.21;-0.21;-0.21	4.81	2.87	0.33458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165528	0.53938	D	0.000047	T	0.69278	0.3093	M	0.62016	1.91	0.32718	N	0.51072	P;D	0.53312	0.934;0.959	P;P	0.53760	0.734;0.643	T	0.75825	-0.3181	10	0.59425	D	0.04	.	7.6477	0.28329	0.2678:0.0:0.7322:0.0	.	208;208	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	K	208;209;208	ENSP00000363557:N208K;ENSP00000332670:N209K;ENSP00000328415:N208K	ENSP00000328415:N208K	N	-	3	2	MYOM3	24298789	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.474000	0.35398	1.166000	0.42689	0.456000	0.33151	AAC		PASS	0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		34	84	34	84	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34209097	34209097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:34209097C>A	ENST00000373381.4	-	14	2133	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	613	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E613*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGCGGCTCTCAGGCCTGGCC	0.607																																						uc001bxn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(1837-1839)GAG>TAG		CUB and Sushi multiple domains 2							78.0	79.0	79.0					1																	34209097		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209097C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1957G>T	1.37:g.34209097C>A	ENSP00000362479:p.Glu653*					CSMD2_uc001bxm.1_Nonsense_Mutation_p.E653*	p.E613*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	1866	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	613			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37	c.1837G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.169782	0.99089	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.9334	0.92576	0.0:1.0:0.0:0.0	.	.	.	.	X	653	.	ENSP00000241312:E613X	E	-	1	0	CSMD2	33981684	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	5.914000	0.69964	2.782000	0.95742	0.655000	0.94253	GAG		PASS	0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		29	102	29	102	---	---	---	---
RIMS3	9783	broad.mit.edu	37	1	41107406	41107406	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:41107406C>G	ENST00000372684.3	-	3	661	c.192G>C	c.(190-192)aaG>aaC	p.K64N	RIMS3_ENST00000372683.1_Missense_Mutation_p.K64N	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	64					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.K64N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GGAGTGTGCTCTTGCTCCACT	0.662																																						uc001cfu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)AAG>AAC		regulating synaptic membrane exocytosis 3							55.0	49.0	51.0					1																	41107406		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107406C>G	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.192G>C	1.37:g.41107406C>G	ENSP00000361769:p.Lys64Asn					RIMS3_uc001cfv.1_Missense_Mutation_p.K64N	p.K64N	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		3	661	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	64					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.192G>C	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184034	0.38609	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.38240	1.15;1.15	5.52	2.64	0.31445	.	0.202076	0.51477	D	0.000094	T	0.18467	0.0443	N	0.16790	0.44	0.46725	D	0.99917	B	0.26635	0.155	B	0.23716	0.048	T	0.06991	-1.0796	10	0.18710	T	0.47	-14.837	7.1259	0.25471	0.0:0.6391:0.0:0.3609	.	64	Q9UJD0	RIMS3_HUMAN	N	64	ENSP00000361769:K64N;ENSP00000361768:K64N	ENSP00000361768:K64N	K	-	3	2	RIMS3	40879993	0.854000	0.29725	0.998000	0.56505	0.993000	0.82548	0.294000	0.19047	0.287000	0.22375	-0.140000	0.14226	AAG		PASS	0.662	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		20	71	20	71	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43392786	43392786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:43392786G>A	ENST00000426263.3	-	10	1583	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	469					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.Q469*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GCTCCCCCCTGCCGGAAGCCG	0.577																																						uc001cik.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(1405-1407)CAG>TAG		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						69.0	71.0	70.0					1																	43392786		2203	4300	6503	SO:0001587	stop_gained	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43392786G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1405C>T	1.37:g.43392786G>A	ENSP00000416293:p.Gln469*						p.Q469*	NM_006516	NP_006507	P11166	GTR1_HUMAN			10	1930	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	469			Cytoplasmic (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Nonsense_Mutation	SNP	ENST00000426263.3	37	c.1405C>T	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	37	6.360842	0.97502	.	.	ENSG00000117394	ENST00000426263;ENST00000397019	.	.	.	5.59	4.68	0.58851	.	0.262548	0.40302	N	0.001129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.4282	0.27111	0.0844:0.0:0.7507:0.1649	.	.	.	.	X	469;411	.	ENSP00000380214:Q411X	Q	-	1	0	SLC2A1	43165373	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.299000	0.72770	1.380000	0.46344	0.561000	0.74099	CAG		PASS	0.577	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		58	79	58	79	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65851519	65851519	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:65851519C>A	ENST00000395325.3	+	7	911	c.754C>A	c.(754-756)Cgc>Agc	p.R252S	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R309S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R239S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	252	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.R252S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAATGGATGTCGCCCTTACTG	0.418																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(754-756)CGC>AGC		DnaJ (Hsp40) homolog, subfamily C, member 6							158.0	134.0	142.0					1																	65851519		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65851519C>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.754C>A	1.37:g.65851519C>A	ENSP00000378735:p.Arg252Ser					DNAJC6_uc001dcc.1_Missense_Mutation_p.R283S|DNAJC6_uc010opc.1_Missense_Mutation_p.R239S|DNAJC6_uc001dce.1_Missense_Mutation_p.R309S	p.R252S	NM_014787	NP_055602	O75061	AUXI_HUMAN			7	918	+			252			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.754C>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889414	0.91889	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.85484	-1.99;-1.99;-1.99	4.82	4.82	0.62117	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93577	0.6909	10	0.72032	D	0.01	.	18.0909	0.89475	0.0:1.0:0.0:0.0	.	309;252;239	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	S	239;252;309	ENSP00000263441:R239S;ENSP00000378735:R252S;ENSP00000360108:R309S	ENSP00000263441:R239S	R	+	1	0	DNAJC6	65624107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.507000	0.84556	0.655000	0.94253	CGC		PASS	0.418	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			57	55	57	55	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	79002200	79002200	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:79002200T>A	ENST00000370757.3	+	3	1145	c.908T>A	c.(907-909)gTa>gAa	p.V303E	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.V303E	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	303					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.V303E(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GATCCTTGGGTATATATTCTT	0.398																																						uc001din.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|skin(1)	6						c.(907-909)GTA>GAA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						131.0	135.0	133.0					1																	79002200		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002200T>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.908T>A	1.37:g.79002200T>A	ENSP00000359793:p.Val303Glu					PTGFR_uc001dim.2_3'UTR	p.V303E	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1174	+			303			Helical; Name=7; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.908T>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212149	0.79240	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.44083	0.93;0.93	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66148	-0.5996	10	0.87932	D	0	-18.3102	16.2199	0.82254	0.0:0.0:0.0:1.0	.	303	P43088	PF2R_HUMAN	E	303	ENSP00000359794:V303E;ENSP00000359793:V303E	ENSP00000359793:V303E	V	+	2	0	PTGFR	78774788	1.000000	0.71417	0.992000	0.48379	0.713000	0.41058	6.067000	0.71193	2.291000	0.77112	0.533000	0.62120	GTA		PASS	0.398	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		39	169	39	169	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103453275	103453275	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:103453275G>A	ENST00000370096.3	-	30	2728	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	COL11A1_ENST00000358392.2_Missense_Mutation_p.P818S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P767S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P690S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	806	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P806S(1)|p.P818S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCCTCTTGGGCCAATTTGA	0.463																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2416-2418)CCA>TCA		alpha 1 type XI collagen isoform A							85.0	81.0	82.0					1																	103453275		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453275G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2416C>T	1.37:g.103453275G>A	ENSP00000359114:p.Pro806Ser					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P818S|COL11A1_uc001dun.2_Missense_Mutation_p.P767S|COL11A1_uc009weh.2_Missense_Mutation_p.P690S	p.P806S	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2734	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	806			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2416C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797880	0.31777	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.4	4.4	0.53042	.	0.139921	0.48767	D	0.000175	D	0.88284	0.6395	L	0.43646	1.37	0.58432	D	0.999996	P;B;B;B	0.35807	0.522;0.035;0.035;0.02	B;B;B;B	0.43950	0.437;0.019;0.019;0.008	D	0.86915	0.2063	10	0.26408	T	0.33	.	17.5266	0.87802	0.0:0.0:1.0:0.0	.	690;767;818;806	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	806;818;767;690	ENSP00000359114:P806S;ENSP00000351163:P818S;ENSP00000302551:P767S;ENSP00000426533:P690S	ENSP00000302551:P767S	P	-	1	0	COL11A1	103225863	1.000000	0.71417	0.993000	0.49108	0.462000	0.32619	4.815000	0.62634	2.422000	0.82143	0.467000	0.42956	CCA		PASS	0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		31	100	31	100	---	---	---	---
SARS	6301	broad.mit.edu	37	1	109779170	109779170	+	Splice_Site	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:109779170G>A	ENST00000234677.2	+	9	1332	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Splice_Site_p.K419K	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	419					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.K419K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGATGGACAAGGTAGATGGCC	0.557																																						uc001dwu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1255-1257)AAG>AAA		seryl-tRNA synthetase	L-Serine(DB00133)						47.0	48.0	48.0					1																	109779170		2203	4300	6503	SO:0001630	splice_region_variant	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109779170G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1257+1G>A	1.37:g.109779170G>A						SARS_uc001dwv.1_Silent_p.K419K|SARS_uc001dww.1_Silent_p.K352K|SARS_uc001dwx.1_Silent_p.K371K|SARS_uc009wfa.1_Intron|SARS_uc001dwy.1_Silent_p.K244K|SARS_uc001dwz.1_Silent_p.K244K	p.K419K	NM_006513	NP_006504	P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	9	1332	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	419					B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	c.1257G>A	CCDS795.1																																																																																				PASS	0.557	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513	Silent	15	69	15	69	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110254936	110254936	+	Start_Codon_SNP	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:110254936T>A	ENST00000256593.3	+	1	60	c.2T>A	c.(1-3)aTg>aAg	p.M1K	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Start_Codon_SNP_p.M1K	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	1					glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.M1K(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ACCAGCACCATGCCCATGACT	0.667																																						uc001dyn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)	6						c.(1-3)ATG>AAG		glutathione S-transferase mu 5	Glutathione(DB00143)						125.0	134.0	131.0					1																	110254936		2203	4300	6503	SO:0001582	initiator_codon_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110254936T>A	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.2T>A	1.37:g.110254936T>A	ENSP00000256593:p.Met1Lys					GSTM5_uc010ovu.1_5'UTR	p.M1K	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	1	73	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	1					A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.2T>A	CCDS811.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848780	0.71603	.	.	ENSG00000134201	ENST00000256593;ENST00000369812	T;T	0.03717	4.27;3.83	4.12	3.0	0.34707	Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000011	T	0.06508	0.0167	.	.	.	0.22552	N	0.998994	D	0.89917	1.0	D	0.79108	0.992	T	0.07616	-1.0763	9	0.87932	D	0	.	7.3785	0.26841	0.0:0.1083:0.0:0.8916	.	1	P46439	GSTM5_HUMAN	K	1	ENSP00000256593:M1K;ENSP00000358827:M1K	ENSP00000256593:M1K	M	+	2	0	GSTM5	110056459	1.000000	0.71417	0.977000	0.42913	0.159000	0.22180	3.265000	0.51561	1.845000	0.53610	0.352000	0.21897	ATG		PASS	0.667	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851	Missense_Mutation	82	250	82	250	---	---	---	---
CD53	963	broad.mit.edu	37	1	111434971	111434971	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:111434971G>T	ENST00000271324.5	+	3	180	c.68G>T	c.(67-69)tGt>tTt	p.C23F	CD53_ENST00000429072.2_Missense_Mutation_p.C23F	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	23					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C23F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TTTCAGATCTGTGGCTGCTGC	0.458																																						uc001dzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TGT>TTT		CD53 antigen							153.0	129.0	138.0					1																	111434971		2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111434971G>T	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.68G>T	1.37:g.111434971G>T	ENSP00000271324:p.Cys23Phe					CD53_uc001dzx.2_Missense_Mutation_p.C23F|CD53_uc010owa.1_Missense_Mutation_p.C23F|CD53_uc001dzy.2_Missense_Mutation_p.C23F	p.C23F	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	4	239	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	23			Helical; (Potential).		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.68G>T	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741175	0.49151	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;T	0.78924	-1.22;-1.22	5.92	5.0	0.66597	.	0.088320	0.85682	D	0.000000	T	0.77811	0.4186	L	0.47078	1.49	0.49915	D	0.999833	B;D	0.89917	0.002;1.0	B;D	0.72625	0.003;0.978	T	0.81339	-0.0977	10	0.72032	D	0.01	.	9.8437	0.41015	0.0:0.1521:0.6902:0.1577	.	23;23	B4DQB5;P19397	.;CD53_HUMAN	F	23	ENSP00000412250:C23F;ENSP00000271324:C23F	ENSP00000271324:C23F	C	+	2	0	CD53	111236494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.933000	0.63484	1.482000	0.48325	0.650000	0.86243	TGT		PASS	0.458	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		40	48	40	48	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147083634	147083634	+	5'UTR	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:147083634C>G	ENST00000234739.3	+	0	739				BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9						canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGATTTCAATCAATGCATTCC	0.577			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(-3-1)ATCAA>ATGAA		B-cell CLL/lymphoma 9							96.0	92.0	93.0					1																	147083634		2203	4300	6503	SO:0001623	5_prime_UTR_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147083634C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.-2C>G	1.37:g.147083634C>G						BCL9_uc010ozr.1_Translation_Start_Site		NM_004326	NP_004317	O00512	BCL9_HUMAN			4	739	+	all_hematologic(923;0.115)							Q5T489	Translation_Start_Site	SNP	ENST00000234739.3	37	c.-1C>G	CCDS30833.1																																																																																				PASS	0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		35	74	35	74	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150443105	150443105	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:150443105A>C	ENST00000369068.4	+	11	1685	c.1681A>C	c.(1681-1683)Act>Cct	p.T561P	RPRD2_ENST00000539519.1_Missense_Mutation_p.T535P|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.T535P	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	561	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.T561P(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCACAGAGCACTTCAGCCTC	0.478																																						uc009wlr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1681-1683)ACT>CCT		Regulation of nuclear pre-mRNA domain containing							59.0	58.0	58.0					1																	150443105		1917	4140	6057	SO:0001583	missense	23248						protein binding	g.chr1:150443105A>C	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1681A>C	1.37:g.150443105A>C	ENSP00000358064:p.Thr561Pro					RPRD2_uc010pcc.1_Missense_Mutation_p.T535P|RPRD2_uc001eup.3_Missense_Mutation_p.T535P	p.T561P	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	1882	+			561			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1681A>C	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170704	0.57584	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.54675	0.56;0.57;0.56	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.49457	0.1558	N	0.24115	0.695	0.42617	D	0.993331	D;D;D	0.71674	0.994;0.997;0.998	P;D;D	0.69142	0.796;0.916;0.962	T	0.58002	-0.7713	10	0.62326	D	0.03	-11.0214	15.0556	0.71910	1.0:0.0:0.0:0.0	.	535;561;535	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	P	535;535;561	ENSP00000383785:T535P;ENSP00000445482:T535P;ENSP00000358064:T561P	ENSP00000358064:T561P	T	+	1	0	RPRD2	148709729	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	3.460000	0.53028	2.141000	0.66446	0.383000	0.25322	ACT		PASS	0.478	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		14	27	14	27	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151260226	151260226	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:151260226G>C	ENST00000368879.2	+	2	1557	c.1459G>C	c.(1459-1461)Ggc>Cgc	p.G487R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G487R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACAGGGGGCGGCACAGTGAT	0.607																																						uc001exq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1459-1461)GGC>CGC		zinc finger protein 687							65.0	71.0	69.0					1																	151260226		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260226G>C		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1459G>C	1.37:g.151260226G>C	ENSP00000357874:p.Gly487Arg					ZNF687_uc001exp.1_Missense_Mutation_p.G496R|ZNF687_uc009wmo.2_Missense_Mutation_p.G487R|ZNF687_uc009wmp.2_Missense_Mutation_p.G487R	p.G487R	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1557	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		487					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1459G>C		.	.	.	.	.	.	.	.	.	.	G	9.557	1.117493	0.20877	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01043	5.41;5.41;5.75	4.19	3.28	0.37604	.	0.000000	0.36066	N	0.002812	T	0.01695	0.0054	M	0.61703	1.905	0.41592	D	0.988804	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	T	0.64922	-0.6293	10	0.18276	T	0.48	.	7.9323	0.29909	0.1099:0.0:0.8901:0.0	.	487;487;487	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	R	487	ENSP00000336620:G487R;ENSP00000319829:G487R;ENSP00000357874:G487R	ENSP00000319829:G487R	G	+	1	0	ZNF687	149526850	1.000000	0.71417	0.698000	0.30274	0.149000	0.21700	7.017000	0.76399	1.360000	0.45960	0.561000	0.74099	GGC		PASS	0.607	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		39	97	39	97	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153745435	153745435	+	5'Flank	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:153745435G>A	ENST00000368661.3	+	0	0				INTS3_ENST00000318967.2_Missense_Mutation_p.E977K|INTS3_ENST00000435409.2_Missense_Mutation_p.E977K|INTS3_ENST00000512605.1_Missense_Mutation_p.E837K|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.E837K	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.E977K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGGAATATGAGGACTCTTC	0.562																																						uc009wom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2929-2931)GAG>AAG		integrator complex subunit 3							79.0	86.0	84.0					1																	153745435		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745435G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745435G>A	Exception_encountered					INTS3_uc001fct.2_Missense_Mutation_p.E977K|INTS3_uc001fcu.2_Missense_Mutation_p.E669K|INTS3_uc001fcv.2_Missense_Mutation_p.E771K|INTS3_uc010peb.1_Missense_Mutation_p.E837K|INTS3_uc001fcw.2_Missense_Mutation_p.E490K|INTS3_uc010pec.1_Missense_Mutation_p.E490K|INTS3_uc001fcy.2_Missense_Mutation_p.E340K|INTS3_uc001fcx.2_Missense_Mutation_p.E274K	p.E977K	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		30	3150	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		978					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.2929G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075958	0.94000	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.67	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.59436	1.845	0.26229	N	0.979043	B;B;B	0.28178	0.202;0.128;0.202	B;B;B	0.34722	0.188;0.063;0.133	T	0.17930	-1.0353	9	0.66056	D	0.02	.	9.5671	0.39405	0.0928:0.0:0.9072:0.0	.	837;978;977	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	K	977;837;977;837	.	ENSP00000318641:E977K	E	+	1	0	INTS3	152012059	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.779000	0.75057	2.677000	0.91161	0.561000	0.74099	GAG		PASS	0.562	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		58	143	58	143	---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153782741	153782741	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:153782741C>T	ENST00000368655.4	-	11	1937	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	565					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G565D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAACTGGGGCCTTTGTGTCC	0.488																																						uc001fdb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1693-1695)GGC>GAC		GATA zinc finger domain containing 2B							116.0	106.0	109.0					1																	153782741		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153782741C>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1694G>A	1.37:g.153782741C>T	ENSP00000357644:p.Gly565Asp						p.G565D	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1938	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		565					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1694G>A	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461137	0.43736	.	.	ENSG00000143614	ENST00000368655	T	0.29142	1.58	4.75	3.82	0.43975	.	0.438446	0.24202	N	0.040601	T	0.06826	0.0174	N	0.08118	0	0.24248	N	0.995331	B	0.14438	0.01	B	0.06405	0.002	T	0.26985	-1.0087	10	0.44086	T	0.13	-1.2326	13.6036	0.62035	0.0:0.1859:0.8141:0.0	.	565	Q8WXI9	P66B_HUMAN	D	565	ENSP00000357644:G565D	ENSP00000357644:G565D	G	-	2	0	GATAD2B	152049365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.784000	0.62411	1.181000	0.42912	-0.211000	0.12701	GGC		PASS	0.488	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		44	64	44	64	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153973458	153973458	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:153973458C>T	ENST00000368559.3	-	37	5331	c.5260G>A	c.(5260-5262)Gta>Ata	p.V1754I	U3_ENST00000516860.1_RNA|NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1754					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.V1754I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCACTCTTACAGAGTAAATG	0.488																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(5260-5262)GTA>ATA		nucleoporin 210kDa-like isoform 1							132.0	128.0	130.0					1																	153973458		1913	4141	6054	SO:0001583	missense	91181					integral to membrane		g.chr1:153973458C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5260G>A	1.37:g.153973458C>T	ENSP00000357547:p.Val1754Ile					NUP210L_uc009woq.2_Missense_Mutation_p.V663I|NUP210L_uc010peh.1_Intron	p.V1754I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		37	5332	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1754					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.5260G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700041	0.30142	.	.	ENSG00000143552	ENST00000368559	T	0.06849	3.25	5.56	2.64	0.31445	.	0.317119	0.26824	N	0.022309	T	0.01558	0.0050	N	0.21583	0.68	0.22468	N	0.99908	B	0.11235	0.004	B	0.09377	0.004	T	0.46816	-0.9164	10	0.36615	T	0.2	-34.3091	6.2685	0.20941	0.0:0.6429:0.1324:0.2247	.	1754	Q5VU65	P210L_HUMAN	I	1754	ENSP00000357547:V1754I	ENSP00000357547:V1754I	V	-	1	0	NUP210L	152240082	0.001000	0.12720	0.002000	0.10522	0.897000	0.52465	-0.065000	0.11617	0.290000	0.22444	0.484000	0.47621	GTA		PASS	0.488	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		75	150	75	150	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158596725	158596725	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:158596725G>A	ENST00000368147.4	-	41	5917	c.5737C>T	c.(5737-5739)Ctg>Ttg	p.L1913L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1913					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.L1913L(2)		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)					GCCTTAGCCAGAGAAGGGGTC	0.438																																						uc001fst.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5737-5739)CTG>TTG		spectrin, alpha, erythrocytic 1							163.0	161.0	162.0					1																	158596725		1859	4097	5956	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596725G>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.5737C>T	1.37:g.158596725G>A							p.L1913L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	5936	-	all_hematologic(112;0.0378)		1913			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5737C>T	CCDS41423.1																																																																																				PASS	0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		87	179	87	179	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172051015	172051015	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:172051015A>G	ENST00000355305.5	+	12	1623	c.1466A>G	c.(1465-1467)aAc>aGc	p.N489S	DNM3_ENST00000358155.4_Missense_Mutation_p.N489S|DNM3_ENST00000520906.1_Missense_Mutation_p.N489S|DNM3_ENST00000367733.2_Missense_Mutation_p.N489S|DNM3_ENST00000367731.1_Missense_Mutation_p.N489S			Q9UQ16	DYN3_HUMAN	dynamin 3	489					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N489S(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCAACACCAACCATGAAGAC	0.363																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1465-1467)AAC>AGC		dynamin 3 isoform a							158.0	149.0	151.0					1																	172051015		1913	4134	6047	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172051015A>G	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1466A>G	1.37:g.172051015A>G	ENSP00000347457:p.Asn489Ser					DNM3_uc001gid.3_Missense_Mutation_p.N489S|DNM3_uc009wwb.2_Missense_Mutation_p.N489S|DNM3_uc001gif.2_Missense_Mutation_p.N489S	p.N489S	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			12	1642	+			489					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1466A>G		.	.	.	.	.	.	.	.	.	.	A	19.84	3.902200	0.72754	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	L	0.50333	1.59	0.49915	D	0.999834	D;P;P;D	0.71674	0.971;0.749;0.938;0.998	D;P;P;D	0.70935	0.91;0.591;0.757;0.971	T	0.78132	-0.2323	10	0.46703	T	0.11	.	12.5837	0.56406	1.0:0.0:0.0:0.0	.	489;489;489;489	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	S	489;489;489;489;489;489;379	ENSP00000350876:N489S;ENSP00000356707:N489S;ENSP00000347457:N489S;ENSP00000356705:N489S;ENSP00000429701:N489S;ENSP00000429416:N379S	ENSP00000347457:N489S	N	+	2	0	DNM3	170317638	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.693000	0.74582	2.285000	0.76669	0.533000	0.62120	AAC		PASS	0.363	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		47	127	47	127	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179561943	179561943	+	Missense_Mutation	SNP	C	C	A	rs375641517		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:179561943C>A	ENST00000367614.1	+	2	552	c.193C>A	c.(193-195)Cgt>Agt	p.R65S	TDRD5_ENST00000444136.1_Missense_Mutation_p.R65S|TDRD5_ENST00000294848.8_Missense_Mutation_p.R65S|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	65	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R65S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGATGTTGTTCGTGTCTGCCC	0.423																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(193-195)CGT>AGT		tudor domain containing 5							182.0	158.0	166.0					1																	179561943		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561943C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.193C>A	1.37:g.179561943C>A	ENSP00000356586:p.Arg65Ser					TDRD5_uc010pnp.1_Missense_Mutation_p.R65S|uc010pno.1_5'Flank	p.R65S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			2	443	+			65			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.193C>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	8.825	0.938566	0.18206	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.45668	0.89;0.89;0.89	5.81	3.35	0.38373	.	0.676376	0.15745	N	0.246703	T	0.16938	0.0407	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	10	0.05833	T	0.94	-8.0125	8.2216	0.31545	0.5348:0.346:0.0:0.1192	.	65;65	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	65	ENSP00000356586:R65S;ENSP00000294848:R65S;ENSP00000406052:R65S	ENSP00000294848:R65S	R	+	1	0	TDRD5	177828566	0.000000	0.05858	0.933000	0.37362	0.921000	0.55340	0.327000	0.19663	0.449000	0.26747	-0.256000	0.11100	CGT		PASS	0.423	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		43	103	43	103	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201687762	201687762	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:201687762A>G	ENST00000367296.4	+	3	1525	c.1105A>G	c.(1105-1107)Atc>Gtc	p.I369V	MIR5191_ENST00000577455.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.I369V|NAV1_ENST00000367297.4_Missense_Mutation_p.I369V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.I382V|NAV1_ENST00000367300.3_Missense_Mutation_p.I369V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	369					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I369V(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTCAGCCATATCTCCCGCCT	0.642																																						uc001gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1105-1107)ATC>GTC		neuron navigator 1							102.0	95.0	97.0					1																	201687762		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201687762A>G	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1105A>G	1.37:g.201687762A>G	ENSP00000356265:p.Ile369Val						p.I369V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			3	1452	+			369					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1105A>G	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504939	0.26949	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.58	5.58	0.84498	.	0.258488	0.36854	N	0.002372	T	0.30510	0.0767	L	0.29908	0.895	0.26807	N	0.969085	B	0.09022	0.002	B	0.04013	0.001	T	0.13229	-1.0517	10	0.09590	T	0.72	-22.9208	15.406	0.74877	1.0:0.0:0.0:0.0	.	369	Q8NEY1-3	.	V	382;369;369;369;369	ENSP00000356271:I382V;ENSP00000356265:I369V;ENSP00000295624:I369V;ENSP00000356266:I369V;ENSP00000356269:I369V	ENSP00000295624:I369V	I	+	1	0	NAV1	199954385	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.973000	0.56845	2.109000	0.64355	0.460000	0.39030	ATC		PASS	0.642	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		70	111	70	111	---	---	---	---
PRELP	5549	broad.mit.edu	37	1	203452317	203452317	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:203452317G>A	ENST00000343110.2	+	2	132	c.5G>A	c.(4-6)aGg>aAg	p.R2K		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	2					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R2K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGATCATGAGGTCACCCCTC	0.572																																						uc001gzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4-6)AGG>AAG		proline arginine-rich end leucine-rich repeat							100.0	102.0	101.0					1																	203452317		2202	4300	6502	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452317G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.5G>A	1.37:g.203452317G>A	ENSP00000343924:p.Arg2Lys					PRELP_uc001gzt.2_Missense_Mutation_p.R2K	p.R2K	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	205	+			2					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.5G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532929	0.45073	.	.	ENSG00000188783	ENST00000343110	T	0.38240	1.15	5.09	1.76	0.24704	.	0.284575	0.30723	N	0.009017	T	0.14270	0.0345	N	0.08118	0	0.31532	N	0.661055	B	0.02656	0.0	B	0.04013	0.001	T	0.15378	-1.0439	10	0.16420	T	0.52	-0.5148	5.0623	0.14564	0.4855:0.0:0.5145:0.0	.	2	P51888	PRELP_HUMAN	K	2	ENSP00000343924:R2K	ENSP00000343924:R2K	R	+	2	0	PRELP	201718940	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.035000	0.30216	0.548000	0.28955	0.462000	0.41574	AGG		PASS	0.572	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		83	220	83	220	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205801751	205801751	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:205801751G>A	ENST00000367136.4	-	11	1304	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	420					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.F420F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGACTTCCGGGAAGACGGACT	0.562																																						uc001hdj.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1258-1260)TTC>TTT		peptidase M20 domain containing 1 precursor							78.0	69.0	72.0					1																	205801751		2203	4300	6503	SO:0001819	synonymous_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205801751G>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1260C>T	1.37:g.205801751G>A						PM20D1_uc009xbr.2_RNA	p.F420F	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		11	1305	-	Breast(84;0.201)		420					Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	c.1260C>T	CCDS1460.1																																																																																				PASS	0.562	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		40	95	40	95	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210012355	210012355	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:210012355C>A	ENST00000491415.2	+	7	1221	c.1164C>A	c.(1162-1164)aaC>aaA	p.N388K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	388					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N388K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TTGTGAGCAACAAAAAGAGGT	0.493																																						uc001hhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1162-1164)AAC>AAA		digestive-organ expansion factor homolog							143.0	140.0	141.0					1																	210012355		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210012355C>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1164C>A	1.37:g.210012355C>A	ENSP00000419005:p.Asn388Lys					C1orf107_uc009xcu.1_Missense_Mutation_p.N103K	p.N388K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	7	1240	+			388					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1164C>A	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.053131|4.053131	0.75960|0.75960	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.40756|.	1.02|.	5.95|5.95	1.43|1.43	0.22495|0.22495	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59582|0.59582	0.2204|0.2204	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	T|T	0.52631|0.52631	-0.8550|-0.8550	9|5	.|.	.|.	.|.	-34.6833|-34.6833	9.8385|9.8385	0.40985|0.40985	0.0:0.505:0.0:0.495|0.0:0.505:0.0:0.495	.|.	388|.	Q68CQ4|.	DIEXF_HUMAN|.	K|K	388|69	ENSP00000419005:N388K|.	.|.	N|T	+|+	3|2	2|0	DIEXF|DIEXF	208078978|208078978	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	2.075000|2.075000	0.41538|0.41538	0.006000|0.006000	0.14734|0.14734	0.655000|0.655000	0.94253|0.94253	AAC|ACA		PASS	0.493	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		60	138	60	138	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211192563	211192563	+	Nonsense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:211192563G>C	ENST00000271751.4	-	6	621	c.594C>G	c.(592-594)taC>taG	p.Y198*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.Y198*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	198					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Y198*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTCTTGCTTGTACTGGGGAA	0.428																																						uc001hib.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(592-594)TAC>TAG		potassium voltage-gated channel, subfamily H,							63.0	67.0	66.0					1																	211192563		2203	4300	6503	SO:0001587	stop_gained	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192563G>C	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.594C>G	1.37:g.211192563G>C	ENSP00000271751:p.Tyr198*					KCNH1_uc001hic.2_Nonsense_Mutation_p.Y198*	p.Y198*	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	764	-			198			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	c.594C>G	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259918	0.97421	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.0	2.12	0.27331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0789	0.36538	0.3129:0.0:0.6871:0.0	.	.	.	.	X	198	.	ENSP00000271751:Y198X	Y	-	3	2	KCNH1	209259186	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	3.845000	0.55880	0.528000	0.28580	-0.448000	0.05591	TAC		PASS	0.428	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		30	108	30	108	---	---	---	---
MARC1	64757	broad.mit.edu	37	1	220970070	220970070	+	Missense_Mutation	SNP	C	C	T	rs144056103		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:220970070C>T	ENST00000366910.5	+	3	721	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	179					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.R179C(1)									ACAGCCCTACCGCCTGGTGCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					uc001hms.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CGC>TGC		MOCO sulphurase C-terminal domain containing 1		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	81.0	62.0	69.0		535	2.9	0.9	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	MOSC1	NM_022746.3	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	179/338	220970070	3,13003	2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220970070C>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.535C>T	1.37:g.220970070C>T	ENSP00000355877:p.Arg179Cys					MOSC1_uc001hmt.2_Missense_Mutation_p.R179C	p.R179C	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN		GBM - Glioblastoma multiforme(131;0.0358)	3	783	+			179					A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.535C>T	CCDS1526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089395|4.089395	0.76756|0.76756	6.81E-4|6.81E-4	0.0|0.0	ENSG00000186205|ENSG00000186205	ENST00000407981|ENST00000366910	.|T	.|0.22743	.|1.94	4.82|4.82	2.93|2.93	0.34026|0.34026	.|Pyruvate kinase-like, insert domain (1);	.|0.000000	.|0.64402	.|D	.|0.000018	T|T	0.54565|0.54565	0.1866|0.1866	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.60551|0.60551	-0.7241|-0.7241	5|10	.|0.87932	.|D	.|0	-8.5709|-8.5709	9.2094|9.2094	0.37309|0.37309	0.1454:0.7772:0.0:0.0774|0.1454:0.7772:0.0:0.0774	.|.	.|179;179	.|Q5VT66-2;Q5VT66	.|.;MOSC1_HUMAN	L|C	87|179	.|ENSP00000355877:R179C	.|ENSP00000355877:R179C	P|R	+|+	2|1	0|0	MOSC1|MOSC1	219036693|219036693	0.998000|0.998000	0.40836|0.40836	0.949000|0.949000	0.38748|0.38748	0.913000|0.913000	0.54294|0.54294	2.537000|2.537000	0.45702|0.45702	0.440000|0.440000	0.26502|0.26502	0.655000|0.655000	0.94253|0.94253	CCG|CGC		PASS	0.602	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		29	37	29	37	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924191	226924191	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:226924191G>A	ENST00000272117.3	-	1	968	c.969C>T	c.(967-969)ctC>ctT	p.L323L	ITPKB_ENST00000429204.1_Silent_p.L323L|ITPKB_ENST00000366784.1_Silent_p.L323L			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	323					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L323L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ACGGCTCAGTGAGGGCAAGAT	0.627																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(967-969)CTC>CTT		1D-myo-inositol-trisphosphate 3-kinase B							48.0	57.0	54.0					1																	226924191		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924191G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.969C>T	1.37:g.226924191G>A						ITPKB_uc001hqh.2_Silent_p.L323L	p.L323L	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	1309	-		Prostate(94;0.0773)	323					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.969C>T	CCDS1555.1																																																																																				PASS	0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		48	69	48	69	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228529182	228529182	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:228529182C>T	ENST00000422127.1	+	74	17945	c.17901C>T	c.(17899-17901)cgC>cgT	p.R5967R	OBSCN_ENST00000284548.11_Silent_p.R5967R|OBSCN_ENST00000366707.4_Silent_p.R3601R|OBSCN_ENST00000570156.2_Silent_p.R6924R|OBSCN_ENST00000366709.4_Silent_p.R3086R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R6679R(1)|p.R5967R(1)|p.R6549R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGATGACCGCGCCTTCGAGG	0.637																																						uc009xez.1																			3	Substitution - coding silent(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(17899-17901)CGC>CGT		obscurin, cytoskeletal calmodulin and							35.0	44.0	41.0					1																	228529182		2120	4219	6339	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529182C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17901C>T	1.37:g.228529182C>T						OBSCN_uc001hsn.2_Silent_p.R5967R|OBSCN_uc001hsr.1_Silent_p.R596R	p.R5967R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			74	17945	+		Prostate(94;0.0405)	5967			PH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.17901C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	6.360	0.434499	0.12045	.	.	ENSG00000154358	ENST00000441106	T	0.11063	2.81	5.6	-11.2	0.00127	.	0.069794	0.64402	D	0.000018	T	0.14700	0.0355	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	T	0.74802	-0.3541	7	0.46703	T	0.11	.	12.8792	0.58008	0.1188:0.6075:0.1704:0.1034	.	.	.	.	C	584	ENSP00000388554:R584C	ENSP00000388554:R584C	R	+	1	0	OBSCN	226595805	0.000000	0.05858	0.017000	0.16124	0.007000	0.05969	-2.373000	0.01072	-4.524000	0.00044	-2.970000	0.00081	CGC		PASS	0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	19	8	19	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777821	237777821	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:237777821C>A	ENST00000366574.2	+	37	5710	c.5393C>A	c.(5392-5394)gCt>gAt	p.A1798D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1796D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1782D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1798	4 X approximate repeats.				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.A1796D(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)			CTGACAGAAGCTGTTAAAGAG	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5392-5394)GCT>GAT		cardiac muscle ryanodine receptor							166.0	158.0	161.0					1																	237777821		1946	4146	6092	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.chr1:237777821C>A	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.5393C>A	1.37:g.237777821C>A	ENSP00000355533:p.Ala1798Asp						p.A1798D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5513	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1798			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5393C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967968	0.53507	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.75050	-0.9;-0.9;-0.9	5.62	4.71	0.59529	.	0.000000	0.53938	D	0.000043	T	0.80529	0.4640	M	0.75085	2.285	0.80722	D	1	P	0.51240	0.943	P	0.50590	0.645	D	0.83475	0.0061	10	0.87932	D	0	.	14.5242	0.67875	0.0:0.9297:0.0:0.0703	.	1798	Q92736	RYR2_HUMAN	D	1798;1796;1782	ENSP00000355533:A1798D;ENSP00000353174:A1796D;ENSP00000443798:A1782D	ENSP00000353174:A1796D	A	+	2	0	RYR2	235844444	1.000000	0.71417	0.190000	0.23270	0.130000	0.20726	6.047000	0.71038	1.391000	0.46566	0.650000	0.86243	GCT		PASS	0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		118	261	118	261	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343407	248343407	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:248343407G>T	ENST00000359682.2	+	1	120	c.120G>T	c.(118-120)atG>atT	p.M40I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCCTTCATGGGAAACTCTG	0.522																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(118-120)ATG>ATT		olfactory receptor, family 2, subfamily M,							293.0	279.0	284.0					1																	248343407		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343407G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.120G>T	1.37:g.248343407G>T	ENSP00000352710:p.Met40Ile						p.M40I	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	120	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		40			Helical; Name=1; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.120G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	4.227	0.041099	0.08196	.	.	ENSG00000198601	ENST00000359682	T	0.00433	7.43	2.03	-2.56	0.06268	.	0.999489	0.08093	N	0.999079	T	0.00178	0.0005	N	0.12611	0.24	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	10	0.07644	T	0.81	.	3.4751	0.07582	0.2285:0.0:0.2855:0.486	.	40	Q96R28	OR2M2_HUMAN	I	40	ENSP00000352710:M40I	ENSP00000352710:M40I	M	+	3	0	OR2M2	246410030	0.558000	0.26554	0.001000	0.08648	0.020000	0.10135	-0.816000	0.04477	-0.791000	0.04486	-0.396000	0.06452	ATG		PASS	0.522	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		39	415	39	415	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737448	248737448	+	Missense_Mutation	SNP	G	G	T	rs201522585	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr1:248737448G>T	ENST00000328782.2	-	1	632	c.611C>A	c.(610-612)aCg>aAg	p.T204K		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T204K(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			GCACAGGTACGTGAGCATCTT	0.517																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(610-612)ACG>AAG		olfactory receptor, family 2, subfamily T,							197.0	211.0	206.0					1																	248737448		2101	4300	6401	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737448G>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.611C>A	1.37:g.248737448G>T	ENSP00000330904:p.Thr204Lys						p.T204K	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	611	-	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)		204			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.611C>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	8.598	0.886207	0.17540	.	.	ENSG00000183310	ENST00000328782	T	0.00091	8.74	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.38373	-0.9664	9	0.87932	D	0	.	5.2071	0.15297	0.5593:0.0:0.4407:0.0	.	204	Q8NGX1	O2T34_HUMAN	K	204	ENSP00000330904:T204K	ENSP00000330904:T204K	T	-	2	0	OR2T34	246804071	0.001000	0.12720	0.888000	0.34837	0.067000	0.16453	1.443000	0.35057	0.081000	0.16988	-1.849000	0.00571	ACG		PASS	0.517	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		64	308	64	308	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1507739	1507739	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:1507739C>A	ENST00000345913.4	+	14	2497	c.2406C>A	c.(2404-2406)gaC>gaA	p.D802E	TPO_ENST00000349624.3_Missense_Mutation_p.D629E|TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.D802E|TPO_ENST00000382201.3_Missense_Mutation_p.D745E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.D802E|TPO_ENST00000382198.1_Missense_Mutation_p.D629E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	802	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.D802E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTGTGCAGACGGTGCCCACC	0.642																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2404-2406)GAC>GAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						65.0	62.0	63.0					2																	1507739		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1507739C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2406C>A	2.37:g.1507739C>A	ENSP00000318820:p.Asp802Glu					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D745E|TPO_uc002qwr.2_Missense_Mutation_p.D802E|TPO_uc002qwx.2_Missense_Mutation_p.D745E|TPO_uc010yio.1_Missense_Mutation_p.D629E|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	p.D802E	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	14	2497	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	802			Extracellular (Potential).|EGF-like; calcium-binding (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2406C>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.960|9.960	1.222471|1.222471	0.22457|0.22457	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000425083|ENST00000446278	D;D;D;D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93|.	4.53|4.53	-0.435|-0.435	0.12279|0.12279	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	2.229260|.	0.02206|.	N|.	0.062686|.	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.12887|0.12887	0.27|0.27	0.34732|0.34732	D|D	0.729818|0.729818	P;P;P|.	0.44380|.	0.834;0.717;0.76|.	B;B;P|.	0.46275|.	0.279;0.376;0.51|.	T|T	0.29610|0.29610	-1.0006|-1.0006	10|5	0.45353|.	T|.	0.12|.	-30.1672|-30.1672	6.7347|6.7347	0.23403|0.23403	0.0:0.278:0.1286:0.5934|0.0:0.278:0.1286:0.5934	.|.	629;745;802|.	P07202-5;P07202-2;P07202|.	.;.;PERT_HUMAN|.	E|K	802;802;629;802;745;629;23|277	ENSP00000337263:D802E;ENSP00000318820:D802E;ENSP00000332044:D629E;ENSP00000329869:D802E;ENSP00000371636:D745E;ENSP00000371633:D629E;ENSP00000389659:D23E|.	ENSP00000329869:D802E|.	D|T	+|+	3|2	2|0	TPO|TPO	1486746|1486746	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.285000|-0.285000	0.08410|0.08410	-0.346000|-0.346000	0.08312|0.08312	0.453000|0.453000	0.30009|0.30009	GAC|ACG		PASS	0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		29	41	29	41	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9490936	9490936	+	Splice_Site	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:9490936G>A	ENST00000281419.3	+	12	1363		c.e12-1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTTTTAAACAGGCTAACCGGC	0.468																																						uc002qzh.2																			1	Unknown(1)		lung(1)		0						c.e12-1		ArfGAP with SH3 domain, ankyrin repeat and PH							56.0	49.0	52.0					2																	9490936		2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9490936G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1024-1G>A	2.37:g.9490936G>A						ASAP2_uc002qzi.2_Splice_Site_p.A342_splice	p.A342_splice	NM_003887	NP_003878	O43150	ASAP2_HUMAN			12	1364	+								D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37	c.1024_splice	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408493	0.83340	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6158	0.91302	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASAP2	9408387	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.645000	0.98471	2.629000	0.89072	0.650000	0.86243	.		PASS	0.468	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Intron	8	58	8	58	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11780490	11780490	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:11780490C>G	ENST00000381486.2	+	33	6060	c.5760C>G	c.(5758-5760)gaC>gaG	p.D1920E	GREB1_ENST00000396123.1_Missense_Mutation_p.D918E|GREB1_ENST00000234142.5_Missense_Mutation_p.D1920E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1920						integral component of membrane (GO:0016021)		p.D1920D(1)|p.D1920E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTCGAGGACGAGTGGCAGT	0.627																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|central_nervous_system(1)	ovary(1)	1						c.(5758-5760)GAC>GAG		growth regulation by estrogen in breast cancer 1							51.0	58.0	56.0					2																	11780490		2033	4170	6203	SO:0001583	missense	9687					integral to membrane		g.chr2:11780490C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5760C>G	2.37:g.11780490C>G	ENSP00000370896:p.Asp1920Glu					GREB1_uc002rbp.1_Missense_Mutation_p.D918E	p.D1920E	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6060	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1920					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5760C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285083	0.40394	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23754	3.24;3.24;1.89	5.04	-10.1	0.00402	.	0.159854	0.53938	N	0.000047	T	0.28632	0.0709	L	0.42744	1.35	0.27130	N	0.961913	D	0.54964	0.969	P	0.58820	0.846	T	0.66806	-0.5830	10	0.45353	T	0.12	-17.4882	14.0212	0.64555	0.0809:0.6465:0.0893:0.1833	.	1920	Q4ZG55	GREB1_HUMAN	E	1920;1920;918	ENSP00000370896:D1920E;ENSP00000234142:D1920E;ENSP00000379429:D918E	ENSP00000234142:D1920E	D	+	3	2	GREB1	11697941	0.000000	0.05858	0.051000	0.19133	0.808000	0.45660	-6.213000	0.00075	-3.517000	0.00148	-2.233000	0.00290	GAC		PASS	0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	40	7	40	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15767206	15767206	+	Silent	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:15767206A>T	ENST00000381341.2	+	21	2012	c.1623A>T	c.(1621-1623)tcA>tcT	p.S541S	DDX1_ENST00000233084.3_Silent_p.S541S			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.S541S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ACCAGTTCTCATGTGTTTGTC	0.343																																						uc002rce.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1621-1623)TCA>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							115.0	117.0	116.0					2																	15767206		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15767206A>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1623A>T	2.37:g.15767206A>T						DDX1_uc010yjq.1_Silent_p.S449S	p.S541S	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	20	1911	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	541			Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.1623A>T	CCDS1686.1																																																																																				PASS	0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		38	52	38	52	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27802598	27802598	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:27802598G>C	ENST00000408964.2	+	1	3210	c.3159G>C	c.(3157-3159)caG>caC	p.Q1053H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1053						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.Q1053H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGACTCACAGAGTGATTCCC	0.473																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(3157-3159)CAG>CAC		hypothetical protein LOC84226							118.0	121.0	120.0					2																	27802598		2012	4190	6202	SO:0001583	missense	84226							g.chr2:27802598G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3159G>C	2.37:g.27802598G>C	ENSP00000386190:p.Gln1053His						p.Q1053H	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3210	+	Acute lymphoblastic leukemia(172;0.155)		1053					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3159G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.229	-1.022771	0.02061	.	.	ENSG00000221843	ENST00000408964	T	0.06768	3.26	4.19	-0.376	0.12505	.	.	.	.	.	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.43065	-0.9414	9	0.33940	T	0.23	.	2.2835	0.04120	0.1107:0.3401:0.3505:0.1987	.	1053	Q68DN1	CB016_HUMAN	H	1053	ENSP00000386190:Q1053H	ENSP00000386190:Q1053H	Q	+	3	2	C2orf16	27656102	0.000000	0.05858	0.046000	0.18839	0.003000	0.03518	0.077000	0.14738	0.065000	0.16485	-0.499000	0.04595	CAG		PASS	0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		90	131	90	131	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39485729	39485729	+	Splice_Site	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:39485729C>T	ENST00000263881.3	-	30	2633		c.e30-1		MAP4K3_ENST00000437545.1_Splice_Site|MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.?(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTGGGGTATCTACAATACAA	0.333																																						uc002rro.2																			1	Unknown(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.e30-1		mitogen-activated protein kinase kinase kinase							93.0	92.0	93.0					2																	39485729		2203	4300	6503	SO:0001630	splice_region_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39485729C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2309-1G>A	2.37:g.39485729C>T						MAP4K3_uc002rrp.2_Splice_Site_p.D749_splice|MAP4K3_uc010yns.1_Splice_Site_p.D323_splice	p.D770_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			30	2400	-		all_hematologic(82;0.211)						Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Splice_Site	SNP	ENST00000263881.3	37	c.2309_splice	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582222	0.65992	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4667	0.90758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K3	39339233	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	7.098000	0.76974	2.665000	0.90641	0.591000	0.81541	.		PASS	0.333	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Intron	10	98	10	98	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452461	43452461	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:43452461G>C	ENST00000282388.3	-	2	775	c.482C>G	c.(481-483)cCc>cGc	p.P161R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	161					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P161R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCCTCGAAGGGCCGGCACAG	0.652																																						uc002rsv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CCC>CGC		zinc finger protein 36, C3H type-like 2							39.0	38.0	39.0					2																	43452461		2203	4300	6503	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452461G>C	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.482C>G	2.37:g.43452461G>C	ENSP00000282388:p.Pro161Arg					LOC100129726_uc010ynx.1_5'Flank	p.P161R	NM_006887	NP_008818	P47974	TISD_HUMAN			2	773	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	161			C3H1-type 1.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.482C>G	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622516	0.66787	.	.	ENSG00000152518	ENST00000282388	T	0.38240	1.15	4.65	3.76	0.43208	Zinc finger, CCCH-type (3);	0.338132	0.30556	N	0.009372	T	0.40743	0.1129	L	0.33339	1.005	0.80722	D	1	P	0.50943	0.94	P	0.54174	0.744	T	0.33854	-0.9852	10	0.87932	D	0	-25.2533	13.0074	0.58712	0.0:0.0:0.837:0.163	.	161	P47974	TISD_HUMAN	R	161	ENSP00000282388:P161R	ENSP00000282388:P161R	P	-	2	0	ZFP36L2	43305965	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.221000	0.95188	0.937000	0.37394	-0.324000	0.08512	CCC		PASS	0.652	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		21	28	21	28	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55601952	55601952	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:55601952G>A	ENST00000436346.1	-	4	1182	c.341C>T	c.(340-342)tCt>tTt	p.S114F	CCDC88A_ENST00000336838.6_Missense_Mutation_p.S114F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S114F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S114F	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	114					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.S114F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATACTTACCAGAAAAGGGATT	0.308																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(340-342)TCT>TTT		coiled-coil domain containing 88A isoform 1							83.0	87.0	86.0					2																	55601952		2203	4298	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55601952G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.341C>T	2.37:g.55601952G>A	ENSP00000410608:p.Ser114Phe					CCDC88A_uc010yoz.1_Missense_Mutation_p.S114F|CCDC88A_uc010ypa.1_Missense_Mutation_p.S114F|CCDC88A_uc010ypb.1_Missense_Mutation_p.S16F	p.S114F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			4	1183	-			114					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.341C>T		.	.	.	.	.	.	.	.	.	.	G	22.5	4.292664	0.80914	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.6	5.6	0.85130	.	0.000000	0.47852	U	0.000218	T	0.53786	0.1818	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.56968	-0.7891	10	0.87932	D	0	-15.4229	16.5101	0.84282	0.0:0.0:1.0:0.0	.	114;114;114	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	F	114;114;114;114;39	ENSP00000338728:S114F;ENSP00000263630:S114F;ENSP00000410608:S114F;ENSP00000404431:S114F;ENSP00000399237:S39F	ENSP00000263630:S114F	S	-	2	0	CCDC88A	55455456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.189000	0.58358	2.619000	0.88677	0.655000	0.94253	TCT		PASS	0.308	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		13	128	13	128	---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58459241	58459241	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:58459241C>A	ENST00000233741.4	-	2	139	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	FANCL_ENST00000403676.1_Intron|FANCL_ENST00000402135.3_Missense_Mutation_p.D35Y|FANCL_ENST00000481670.1_5'Flank|FANCL_ENST00000540646.1_Missense_Mutation_p.D35Y|FANCL_ENST00000403295.3_Missense_Mutation_p.D35Y	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	35					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D35Y(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AGGTGGAAGTCTCTTCCCTGT	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002rzw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)GAC>TAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group L isoform							103.0	92.0	96.0					2																	58459241		2202	4300	6502	SO:0001583	missense	55120	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58459241C>A	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.103G>T	2.37:g.58459241C>A	ENSP00000233741:p.Asp35Tyr					FANCL_uc002rzx.3_Missense_Mutation_p.D35Y|FANCL_uc010fce.2_Missense_Mutation_p.D35Y|FANCL_uc010fcf.1_Intron	p.D35Y	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN			2	170	-			35					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.103G>T	CCDS1860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.125717|4.125717	0.77436|0.77436	.|.	.|.	ENSG00000115392|ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000540646|ENST00000427708	T;T;T;T|T	0.47869|0.45276	0.83;0.83;0.83;0.83|0.9	6.01|6.01	6.01|6.01	0.97437|0.97437	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64159|0.64159	0.2573|0.2573	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.74348|.	0.968;0.972;0.983|.	T|T	0.65961|0.65961	-0.6041|-0.6041	10|7	0.87932|0.72032	D|D	0|0.01	-14.8718|-14.8718	17.4309|17.4309	0.87539|0.87539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	35;35;35|.	B5MC31;Q9NW38-2;Q9NW38|.	.;.;FANCL_HUMAN|.	Y|I	35|34	ENSP00000386097:D35Y;ENSP00000233741:D35Y;ENSP00000385021:D35Y;ENSP00000441431:D35Y|ENSP00000400969:R34I	ENSP00000233741:D35Y|ENSP00000400969:R34I	D|R	-|-	1|2	0|0	FANCL|FANCL	58312745|58312745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.027000|4.027000	0.57239|0.57239	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	GAC|AGA		PASS	0.348	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		47	47	47	47	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64780404	64780404	+	Missense_Mutation	SNP	G	G	C	rs145180972		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:64780404G>C	ENST00000422803.1	+	2	2110	c.1796G>C	c.(1795-1797)cGa>cCa	p.R599P	AFTPH_ENST00000238855.7_Missense_Mutation_p.R599P|AFTPH_ENST00000409183.1_Missense_Mutation_p.R230P|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Missense_Mutation_p.R599P|AFTPH_ENST00000238856.4_Missense_Mutation_p.R599P			Q6ULP2	AFTIN_HUMAN	aftiphilin	599					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.R599P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTCATCATCGAAAGGAAGCC	0.448																																						uc002sdc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1795-1797)CGA>CCA		aftiphilin protein isoform a							62.0	61.0	62.0					2																	64780404		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780404G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1796G>C	2.37:g.64780404G>C	ENSP00000397726:p.Arg599Pro					AFTPH_uc002scz.2_Missense_Mutation_p.R599P|AFTPH_uc002sda.2_Missense_Mutation_p.R599P|AFTPH_uc002sdb.2_Missense_Mutation_p.R599P	p.R599P	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1828	+			599					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1796G>C		.	.	.	.	.	.	.	.	.	.	G	13.99	2.401242	0.42613	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47528	1.82;1.82;1.82;1.82;0.84	6.01	5.13	0.70059	.	0.143981	0.43919	D	0.000519	T	0.58148	0.2102	L	0.51422	1.61	0.32060	N	0.595859	D;D;D;D	0.69078	0.997;0.997;0.983;0.983	P;P;P;P	0.61132	0.884;0.884;0.619;0.713	T	0.64411	-0.6414	10	0.30078	T	0.28	-1.2278	14.4894	0.67639	0.0:0.0:0.7339:0.2661	.	599;599;599;599	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	P	599;599;599;599;230	ENSP00000238856:R599P;ENSP00000397726:R599P;ENSP00000238855:R599P;ENSP00000387071:R599P;ENSP00000386913:R230P	ENSP00000238855:R599P	R	+	2	0	AFTPH	64633908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.357000	0.52277	1.531000	0.49152	0.650000	0.86243	CGA		PASS	0.448	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		29	183	29	183	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64780445	64780445	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:64780445G>C	ENST00000422803.1	+	2	2151	c.1837G>C	c.(1837-1839)Gat>Cat	p.D613H	AFTPH_ENST00000238855.7_Missense_Mutation_p.D613H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D244H|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Missense_Mutation_p.D613H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D613H			Q6ULP2	AFTIN_HUMAN	aftiphilin	613					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.D613H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGAAAATATTGATACTCCAGG	0.463																																						uc002sdc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1837-1839)GAT>CAT		aftiphilin protein isoform a							55.0	55.0	55.0					2																	64780445		2203	4299	6502	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780445G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1837G>C	2.37:g.64780445G>C	ENSP00000397726:p.Asp613His					AFTPH_uc002scz.2_Missense_Mutation_p.D613H|AFTPH_uc002sda.2_Missense_Mutation_p.D613H|AFTPH_uc002sdb.2_Missense_Mutation_p.D613H	p.D613H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1869	+			613					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1837G>C		.	.	.	.	.	.	.	.	.	.	G	15.10	2.732781	0.48939	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.52295	1.67;1.67;1.67;1.67;0.67	6.01	6.01	0.97437	.	0.454073	0.23314	N	0.049539	T	0.56396	0.1982	L	0.44542	1.39	0.18873	N	0.999982	D;D;P;P	0.53885	0.963;0.963;0.955;0.955	P;P;P;P	0.53593	0.73;0.73;0.724;0.724	T	0.52837	-0.8522	10	0.59425	D	0.04	-1.1474	18.7017	0.91623	0.0:0.0:1.0:0.0	.	613;613;613;613	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	613;613;613;613;244	ENSP00000238856:D613H;ENSP00000397726:D613H;ENSP00000238855:D613H;ENSP00000387071:D613H;ENSP00000386913:D244H	ENSP00000238855:D613H	D	+	1	0	AFTPH	64633949	0.800000	0.28916	0.028000	0.17463	0.992000	0.81027	4.990000	0.63876	2.861000	0.98227	0.650000	0.86243	GAT		PASS	0.463	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		28	163	28	163	---	---	---	---
TIA1	7072	broad.mit.edu	37	2	70457920	70457920	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:70457920C>G	ENST00000433529.2	-	3	400	c.190G>C	c.(190-192)Gct>Cct	p.A64P	TIA1_ENST00000416149.2_Missense_Mutation_p.A64P|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Missense_Mutation_p.A64P|TIA1_ENST00000282574.4_Missense_Mutation_p.A64P|TIA1_ENST00000415783.2_Missense_Mutation_p.A64P	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	64	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.A64P(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTCATAGCAGCTAATGCTGCA	0.383																																						uc002sgj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GCT>CCT		TIA1 cytotoxic granule-associated RNA binding							136.0	134.0	135.0					2																	70457920		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70457920C>G		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.190G>C	2.37:g.70457920C>G	ENSP00000401371:p.Ala64Pro					TIA1_uc002sgk.3_Missense_Mutation_p.A64P|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.A64P|TIA1_uc010yqt.1_Missense_Mutation_p.A64P	p.A64P	NM_022173	NP_071505	P31483	TIA1_HUMAN			3	407	-			64			RRM 1.		Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.190G>C	CCDS1901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.173865|5.173865	0.94807|0.94807	.|.	.|.	ENSG00000116001|ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149|ENST00000361692	T;T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26;2.26|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82277|0.82277	0.5002|0.5002	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.992;0.982;0.996;0.984|.	P;D;D;D|.	0.66497|.	0.906;0.914;0.944;0.917|.	D|D	0.84025|0.84025	0.0356|0.0356	10|5	0.45353|.	T|.	0.12|.	-17.205|-17.205	17.4171|17.4171	0.87504|0.87504	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	64;102;64;64|.	B4E0E5;Q59G98;P31483-2;P31483|.	.;.;.;TIA1_HUMAN|.	P|T	64;64;102;64;64;64|55	ENSP00000401371:A64P;ENSP00000404023:A64P;ENSP00000282574:A64P;ENSP00000399567:A64P;ENSP00000413751:A64P|.	ENSP00000282574:A64P|.	A|S	-|-	1|2	0|0	TIA1|TIA1	70311424|70311424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.515000|7.515000	0.81761|0.81761	2.677000|2.677000	0.91161|0.91161	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.383	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		40	111	40	111	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73679497	73679497	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:73679497G>T	ENST00000264448.6	+	8	5951	c.5840G>T	c.(5839-5841)aGt>aTt	p.S1947I	ALMS1_ENST00000377715.1_Missense_Mutation_p.S1947I|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1905I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1947	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S1947I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAAGCCCAGTGTTATCTCT	0.443																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5845-5847)AGT>ATT		Alstrom syndrome 1							71.0	68.0	69.0					2																	73679497		1870	4106	5976	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73679497G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5840G>T	2.37:g.73679497G>T	ENSP00000264448:p.Ser1947Ile					ALMS1_uc002sjf.1_Missense_Mutation_p.S1905I|ALMS1_uc002sjg.2_Missense_Mutation_p.S1335I|ALMS1_uc002sjh.1_Missense_Mutation_p.S1335I	p.S1949I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5957	+			1947			34 X 47 AA approximate tandem repeat.|30.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5846G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884527	0.33255	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.25749	2.68;2.68;1.78	3.89	-1.7	0.08159	.	.	.	.	.	T	0.29524	0.0736	L	0.36672	1.1	0.09310	N	1	D;P;P	0.71674	0.998;0.806;0.879	D;B;P	0.65443	0.935;0.406;0.478	T	0.15037	-1.0451	9	0.51188	T	0.08	.	2.2409	0.04019	0.0978:0.3072:0.2812:0.3138	.	1947;1905;1947	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1905;1947;1947	ENSP00000386627:S1905I;ENSP00000264448:S1947I;ENSP00000366944:S1947I	ENSP00000264448:S1947I	S	+	2	0	ALMS1	73533005	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.063000	0.03465	-0.347000	0.08299	0.484000	0.47621	AGT		PASS	0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		43	69	43	69	---	---	---	---
TACR1	6869	broad.mit.edu	37	2	75425883	75425883	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:75425883G>C	ENST00000305249.5	-	1	943	c.178C>G	c.(178-180)Cac>Gac	p.H60D	TACR1_ENST00000409848.3_Missense_Mutation_p.H60D	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	60					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.H60D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	ATTCTTTTGTGGGCTAAGATG	0.522																																					Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)CAC>GAC		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						156.0	132.0	140.0					2																	75425883		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425883G>C	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.178C>G	2.37:g.75425883G>C	ENSP00000303522:p.His60Asp					TACR1_uc002snh.2_Missense_Mutation_p.H60D	p.H60D	NM_001058	NP_001049	P25103	NK1R_HUMAN			1	763	-			60			Cytoplasmic (Potential).		A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.178C>G	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439692	0.83885	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.71461	-0.57;-0.57	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83496	0.5267	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84401	0.0560	10	0.72032	D	0.01	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	60	P25103	NK1R_HUMAN	D	60	ENSP00000303522:H60D;ENSP00000386448:H60D	ENSP00000303522:H60D	H	-	1	0	TACR1	75279391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	CAC		PASS	0.522	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		22	36	22	36	---	---	---	---
ASTL	431705	broad.mit.edu	37	2	96795863	96795863	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:96795863T>A	ENST00000342380.2	-	7	658	c.659A>T	c.(658-660)aAg>aTg	p.K220M		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.K220M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTCTGAGACTTGATGAAGTT	0.483																																						uc010yui.1																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)AAG>ATG		astacin-like metalloendopeptidase precursor							118.0	121.0	120.0					2																	96795863		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795863T>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.659A>T	2.37:g.96795863T>A	ENSP00000343674:p.Lys220Met						p.K220M	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			7	659	-			220						Missense_Mutation	SNP	ENST00000342380.2	37	c.659A>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915823	0.73098	.	.	ENSG00000188886	ENST00000342380	T	0.67523	-0.27	4.14	4.14	0.48551	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.124823	0.35407	N	0.003234	D	0.82332	0.5014	M	0.87971	2.92	0.41812	D	0.989976	D	0.89917	1.0	D	0.91635	0.999	D	0.85442	0.1155	10	0.87932	D	0	-11.6361	11.4849	0.50348	0.0:0.0:0.0:1.0	.	220	Q6HA08	ASTL_HUMAN	M	220	ENSP00000343674:K220M	ENSP00000343674:K220M	K	-	2	0	ASTL	96159590	0.999000	0.42202	0.998000	0.56505	0.978000	0.69477	3.339000	0.52135	1.667000	0.50832	0.454000	0.30748	AAG		PASS	0.483	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			44	99	44	99	---	---	---	---
SEPT10	151011	broad.mit.edu	37	2	110350640	110350640	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:110350640A>C	ENST00000397712.2	-	2	465	c.87T>G	c.(85-87)gaT>gaG	p.D29E	SEPT10_ENST00000334001.6_Start_Codon_SNP_p.M1R|AC011753.5_ENST00000425576.1_RNA|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000545389.1_Missense_Mutation_p.D29E|SEPT10_ENST00000415095.1_Missense_Mutation_p.D29E|SEPT10_ENST00000437928.1_Missense_Mutation_p.D14E|SEPT10_ENST00000356688.4_Missense_Mutation_p.D29E	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	29					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.D29E(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TCTGTTCATCATCTGATCCTT	0.323																																						uc002tew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GAT>GAG		septin 10 isoform 1							129.0	123.0	125.0					2																	110350640		1867	4104	5971	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110350640A>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.87T>G	2.37:g.110350640A>C	ENSP00000380824:p.Asp29Glu					SEPT10_uc010ywu.1_Missense_Mutation_p.D29E|SEPT10_uc002tex.2_Intron|SEPT10_uc002tey.2_Missense_Mutation_p.D29E|SEPT10_uc010ywv.1_5'UTR	p.D29E	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			2	466	-			29					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.87T>G	CCDS46383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.33|10.33	1.319853|1.319853	0.23994|0.23994	.|.	.|.	ENSG00000186522|ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000423520;ENST00000411469;ENST00000442746|ENST00000334001	T;T;T;T;T;T|T	0.54279|0.40756	0.66;0.73;0.72;0.58;0.73;0.6|1.02	3.67|3.67	-5.82|-5.82	0.02333|0.02333	.|.	1.137710|.	0.06692|.	N|.	0.769903|.	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12630|.	0.003;0.006;0.0|.	B;B;B|.	0.10450|.	0.005;0.003;0.002|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|7	0.27785|0.87932	T|D	0.31|0	.|.	1.4601|1.4601	0.02394|0.02394	0.2295:0.3026:0.3192:0.1487|0.2295:0.3026:0.3192:0.1487	.|.	29;29;29|.	B7Z277;B5ME97;Q9P0V9|.	.;.;SEP10_HUMAN|.	E|R	29;29;14;29;29;29;14;20|1	ENSP00000349116:D29E;ENSP00000380824:D29E;ENSP00000407790:D14E;ENSP00000439364:D29E;ENSP00000396728:D29E;ENSP00000416597:D29E|ENSP00000334234:M1R	ENSP00000349116:D29E|ENSP00000334234:M1R	D|M	-|-	3|2	2|0	SEPT10|SEPT10	109707929|109707929	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.179000|0.179000	0.23085|0.23085	-1.339000|-1.339000	0.02652|0.02652	-1.161000|-1.161000	0.02800|0.02800	-0.290000|-0.290000	0.09829|0.09829	GAT|ATG		PASS	0.323	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		24	151	24	151	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116066869	116066869	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:116066869C>A	ENST00000410059.1	+	2	595	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	DPP10_ENST00000310323.8_Missense_Mutation_p.L32M|DPP10_ENST00000393147.2_Missense_Mutation_p.L43M|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	39	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L32M(1)|p.L39M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCTATTGCTCTGCTGGTGAT	0.403																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(115-117)CTG>ATG		dipeptidyl peptidase 10 isoform long							217.0	200.0	206.0					2																	116066869		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066869C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.115C>A	2.37:g.116066869C>A	ENSP00000386565:p.Leu39Met					DPP10_uc002tlb.1_Translation_Start_Site|DPP10_uc002tlc.1_Missense_Mutation_p.L35M|DPP10_uc002tle.2_Missense_Mutation_p.L43M|DPP10_uc002tlf.1_Missense_Mutation_p.L32M	p.L39M	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			2	572	+			39			Mediates effects on KCND2.|Helical; Signal-anchor for type II membrane protein; (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.115C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136557	0.77662	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.6	4.72	0.59763	.	0.000000	0.64402	D	0.000015	T	0.70815	0.3267	M	0.85462	2.755	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.976;0.996;0.947;0.947	T	0.75662	-0.3240	10	0.87932	D	0	-15.1813	13.8801	0.63678	0.0:0.9257:0.0:0.0743	.	32;43;35;39	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	39;35;43;32	ENSP00000386565:L39M;ENSP00000376854:L35M;ENSP00000376855:L43M;ENSP00000309066:L32M	ENSP00000309066:L32M	L	+	1	2	DPP10	115783339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.495000	0.60353	2.643000	0.89663	0.655000	0.94253	CTG		PASS	0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		46	93	46	93	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135745727	135745727	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:135745727G>C	ENST00000375845.3	-	7	745	c.715C>G	c.(715-717)Cca>Gca	p.P239A	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P256A|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P126A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	239							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P239A(1)									GTGAGACTTGGAATGTTTCTT	0.468																																						uc002tue.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(715-717)CCA>GCA		Yeast Sps1/Ste20-related kinase 4 isoform 1							98.0	110.0	106.0					2																	135745727		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745727G>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.715C>G	2.37:g.135745727G>C	ENSP00000365005:p.Pro239Ala					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P126A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.P256A	p.P239A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	746	-			239					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.715C>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217493	0.09810	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71222	-0.55;-0.51;1.8	4.82	-4.61	0.03380	.	0.841724	0.09935	N	0.736652	T	0.52725	0.1752	L	0.43923	1.385	0.09310	N	0.999997	B;B;B	0.24721	0.019;0.11;0.011	B;B;B	0.14578	0.007;0.011;0.003	T	0.40794	-0.9544	10	0.45353	T	0.12	.	3.9099	0.09199	0.5944:0.1214:0.1618:0.1224	.	126;256;239	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	239;126;256	ENSP00000365005:P239A;ENSP00000351140:P126A;ENSP00000376647:P256A	ENSP00000351140:P126A	P	-	1	0	YSK4	135462197	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.037000	0.12164	-0.580000	0.05944	-0.262000	0.10625	CCA		PASS	0.468	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		102	196	102	196	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141032062	141032062	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:141032062A>C	ENST00000389484.3	-	85	14044	c.13073T>G	c.(13072-13074)gTt>gGt	p.V4358G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4358	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V4358G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTTGTCAACCTCACATTT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13072-13074)GTT>GGT		low density lipoprotein-related protein 1B							182.0	148.0	160.0					2																	141032062		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032062A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13073T>G	2.37:g.141032062A>C	ENSP00000374135:p.Val4358Gly	TSP Lung(27;0.18)					p.V4358G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	85	14045	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4358			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13073T>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.65|13.65	2.300219|2.300219	0.40694|0.40694	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|D	.|0.90732	.|-2.72	5.36|5.36	2.99|2.99	0.34606|0.34606	.|.	.|0.261535	.|0.30347	.|U	.|0.009838	D|D	0.85869|0.85869	0.5797|0.5797	L|L	0.58510|0.58510	1.815|1.815	0.42549|0.42549	D|D	0.993106|0.993106	.|B	.|0.20052	.|0.041	.|B	.|0.18871	.|0.023	T|T	0.76184|0.76184	-0.3052|-0.3052	5|10	.|0.22109	.|T	.|0.4	.|.	7.8807|7.8807	0.29621|0.29621	0.7677:0.0:0.2323:0.0|0.7677:0.0:0.2323:0.0	.|.	.|4358	.|Q9NZR2	.|LRP1B_HUMAN	V|G	590;90|4358;4296	.|ENSP00000374135:V4358G	.|ENSP00000374135:V4358G	L|V	-|-	1|2	2|0	LRP1B|LRP1B	140748532|140748532	0.922000|0.922000	0.31269|0.31269	0.977000|0.977000	0.42913|0.42913	0.592000|0.592000	0.36648|0.36648	3.920000|3.920000	0.56446|0.56446	0.347000|0.347000	0.23924|0.23924	-0.994000|-0.994000	0.02522|0.02522	TTG|GTT		PASS	0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		55	131	55	131	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141072664	141072664	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:141072664A>G	ENST00000389484.3	-	83	13616	c.12645T>C	c.(12643-12645)gaT>gaC	p.D4215D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4215	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D4215D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTACATGAATCATCTGTTT	0.308										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12643-12645)GAT>GAC		low density lipoprotein-related protein 1B							96.0	88.0	91.0					2																	141072664		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072664A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12645T>C	2.37:g.141072664A>G		TSP Lung(27;0.18)					p.D4215D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13617	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4215			Extracellular (Potential).|EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12645T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525736	0.04141	.	.	ENSG00000168702	ENST00000437977	.	.	.	6.06	4.88	0.63580	.	.	.	.	.	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	.	8.6665	0.34123	0.7458:0.0:0.2542:0.0	.	.	.	.	T	447	.	.	I	-	2	0	LRP1B	140789134	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	0.876000	0.28092	1.072000	0.40860	0.533000	0.62120	ATT		PASS	0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	79	14	79	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141201916	141201916	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:141201916T>A	ENST00000389484.3	-	65	11248	c.10277A>T	c.(10276-10278)gAa>gTa	p.E3426V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3426	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E3426V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTTCATCTTCCTCATCACC	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10276-10278)GAA>GTA		low density lipoprotein-related protein 1B							221.0	206.0	211.0					2																	141201916		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201916T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10277A>T	2.37:g.141201916T>A	ENSP00000374135:p.Glu3426Val	TSP Lung(27;0.18)					p.E3426V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	65	11249	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3426			Extracellular (Potential).|LDL-receptor class A 23.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10277A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750358	0.89753	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95756	-3.8	5.42	5.42	0.78866	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96191	0.8758	L	0.42245	1.32	0.58432	D	0.999999	D	0.69078	0.997	D	0.65323	0.934	D	0.96744	0.9549	10	0.72032	D	0.01	.	15.6246	0.76845	0.0:0.0:0.0:1.0	.	3426	Q9NZR2	LRP1B_HUMAN	V	3426;3364	ENSP00000374135:E3426V	ENSP00000374135:E3426V	E	-	2	0	LRP1B	140918386	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.825000	0.86693	2.272000	0.75746	0.460000	0.39030	GAA		PASS	0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	195	19	195	---	---	---	---
NMI	9111	broad.mit.edu	37	2	152139423	152139423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:152139423C>A	ENST00000243346.5	-	2	510	c.40G>T	c.(40-42)Gag>Tag	p.E14*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	14					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.E14*(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GGCGAATGCTCCTTAAGAATT	0.249																																						uc002txi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(40-42)GAG>TAG		N-myc and STAT interactor							57.0	56.0	56.0					2																	152139423		2199	4286	6485	SO:0001587	stop_gained	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152139423C>A	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.40G>T	2.37:g.152139423C>A	ENSP00000243346:p.Glu14*					NMI_uc010zbx.1_Nonsense_Mutation_p.E14*|NMI_uc002txj.2_Nonsense_Mutation_p.E14*	p.E14*	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	2	370	-			14					B5BU69|Q53TI8|Q9BVE5	Nonsense_Mutation	SNP	ENST00000243346.5	37	c.40G>T	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126281	0.77549	.	.	ENSG00000123609	ENST00000243346;ENST00000414946	.	.	.	4.14	-1.05	0.10036	.	5.075490	0.00166	N	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	0.3114	1.1537	0.01791	0.1778:0.3151:0.3092:0.1979	.	.	.	.	X	14	.	ENSP00000243346:E14X	E	-	1	0	NMI	151847669	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.772000	0.04694	-0.204000	0.10235	0.555000	0.69702	GAG		PASS	0.249	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		37	68	37	68	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170374740	170374740	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:170374740G>A	ENST00000284669.1	+	4	1494	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.G411R|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.G411R	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	473					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.G473R(1)									CCCCAAAAAAGGAGATTGGAA	0.378																																						uc002ueu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)GGA>AGA		kelch repeat and BTB (POZ) domain containing 10							82.0	78.0	79.0					2																	170374740		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170374740G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1417G>A	2.37:g.170374740G>A	ENSP00000284669:p.Gly473Arg					KBTBD10_uc010zdh.1_Missense_Mutation_p.G411R	p.G473R	NM_006063	NP_006054	O60662	KBTBA_HUMAN			4	1494	+			473			Kelch 3.		Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1417G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573659	0.65765	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.78246	-1.16;-1.16;-1.16	5.82	5.82	0.92795	Kelch-type beta propeller (1);	0.111045	0.64402	D	0.000007	T	0.81088	0.4750	L	0.39020	1.185	0.47621	D	0.999471	D;P	0.54397	0.966;0.843	P;P	0.55345	0.774;0.569	T	0.79509	-0.1774	10	0.45353	T	0.12	.	20.5436	0.99274	0.0:0.0:1.0:0.0	.	411;473	E9PBE3;O60662	.;KBTBA_HUMAN	R	411;411;473	ENSP00000452313:G411R;ENSP00000424363:G411R;ENSP00000284669:G473R	ENSP00000284669:G473R	G	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170082986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.993000	0.63895	2.932000	0.99384	0.644000	0.83932	GGA		PASS	0.378	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		42	58	42	58	---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178346847	178346847	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:178346847A>C	ENST00000264167.4	+	11	1312	c.1166A>C	c.(1165-1167)aAg>aCg	p.K389T	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	389					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.K389T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAATACCAAAAGTATGGCTCA	0.333																																						uc002ull.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1165-1167)AAG>ACG		alkyldihydroxyacetone phosphate synthase							55.0	60.0	58.0					2																	178346847		2203	4295	6498	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178346847A>C	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1166A>C	2.37:g.178346847A>C	ENSP00000264167:p.Lys389Thr					AGPS_uc010zfb.1_Missense_Mutation_p.K299T	p.K389T	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		11	1213	+			389					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1166A>C	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536062	0.85812	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82984	-1.67	4.98	4.98	0.66077	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.049478	0.85682	D	0.000000	D	0.87529	0.6200	M	0.66939	2.045	0.80722	D	1	D	0.56035	0.974	P	0.57620	0.824	D	0.87698	0.2558	10	0.46703	T	0.11	.	13.6636	0.62382	1.0:0.0:0.0:0.0	.	389	O00116	ADAS_HUMAN	T	389;259	ENSP00000264167:K389T	ENSP00000264167:K389T	K	+	2	0	AGPS	178055093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.370000	0.90120	1.877000	0.54381	0.477000	0.44152	AAG		PASS	0.333	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			8	64	8	64	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179667021	179667021	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:179667021A>C	ENST00000591111.1	-	3	363	c.139T>G	c.(139-141)Tcc>Gcc	p.S47A	TTN_ENST00000342992.6_Missense_Mutation_p.S47A|TTN_ENST00000460472.2_Missense_Mutation_p.S47A|TTN_ENST00000342175.6_Missense_Mutation_p.S47A|TTN_ENST00000589042.1_Missense_Mutation_p.S47A|TTN_ENST00000360870.5_Missense_Mutation_p.S47A|TTN_ENST00000359218.5_Missense_Mutation_p.S47A			Q8WZ42	TITIN_HUMAN	titin	32658	Ig-like 1.				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.S47A(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAAGTGGAAATCACCTGG	0.517																																						uc002und.2																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(139-141)TCC>GCC		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							89.0	76.0	80.0					2																	179667021		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179667021A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.139T>G	2.37:g.179667021A>C	ENSP00000465570:p.Ser47Ala					TTN_uc010zfg.1_Missense_Mutation_p.S47A|TTN_uc010zfh.1_Missense_Mutation_p.S47A|TTN_uc010zfi.1_Missense_Mutation_p.S47A|TTN_uc010zfj.1_Missense_Mutation_p.S47A|TTN_uc002unb.2_Missense_Mutation_p.S47A	p.S47A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	364	-			47					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.139T>G		.	.	.	.	.	.	.	.	.	.	A	14.39	2.522127	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000412264	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59514	0.2199	L	0.38531	1.155	0.25711	N	0.98548	B;B;B;B;P	0.39737	0.046;0.046;0.046;0.046;0.685	B;B;B;B;B	0.39971	0.169;0.169;0.169;0.169;0.315	T	0.57900	-0.7731	9	0.87932	D	0	.	12.2252	0.54455	0.8728:0.0:0.0:0.1272	.	47;47;47;47;47	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	47;47;47;47;47;47;62	ENSP00000343764:S47A;ENSP00000434586:S47A;ENSP00000340554:S47A;ENSP00000352154:S47A;ENSP00000354117:S47A	ENSP00000340554:S47A	S	-	1	0	TTN	179375266	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.986000	0.70563	2.186000	0.69663	0.533000	0.62120	TCC		PASS	0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	55	22	55	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182766798	182766798	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:182766798G>T	ENST00000431877.2	+	8	1197	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	SSFA2_ENST00000409001.1_Missense_Mutation_p.D340Y|SSFA2_ENST00000320370.7_Missense_Mutation_p.D340Y|SSFA2_ENST00000428267.2_Missense_Mutation_p.D187Y	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	340						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D340Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CAATAAAAACGATCAAAAGTC	0.353																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1018-1020)GAT>TAT		sperm specific antigen 2 isoform 1							47.0	50.0	49.0					2																	182766798		2199	4298	6497	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766798G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1018G>T	2.37:g.182766798G>T	ENSP00000388731:p.Asp340Tyr					SSFA2_uc002uoh.2_Missense_Mutation_p.D340Y|SSFA2_uc002uoj.2_Missense_Mutation_p.D340Y|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.D187Y|SSFA2_uc002uol.2_Missense_Mutation_p.D187Y	p.D340Y	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1340	+			340					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1018G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702711	0.68501	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.20332	2.32;2.08;2.31;2.32	5.51	5.51	0.81932	.	0.424346	0.24820	N	0.035322	T	0.49830	0.1580	M	0.73598	2.24	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72982	0.979;0.979;0.979;0.979	T	0.49634	-0.8919	10	0.87932	D	0	-24.0772	19.7838	0.96428	0.0:0.0:1.0:0.0	.	187;340;340;340	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	Y	340;340;340;187	ENSP00000388731:D340Y;ENSP00000314669:D340Y;ENSP00000387319:D340Y;ENSP00000409867:D187Y	ENSP00000314669:D340Y	D	+	1	0	SSFA2	182475043	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.718000	0.68455	2.755000	0.94549	0.650000	0.86243	GAT		PASS	0.353	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		12	70	12	70	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196741338	196741338	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:196741338T>A	ENST00000312428.6	-	37	6147	c.6047A>T	c.(6046-6048)cAg>cTg	p.Q2016L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2016	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.Q2016L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GACAATATTCTGAGTTTGAGC	0.358																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(6046-6048)CAG>CTG		dynein, axonemal, heavy chain 7							149.0	134.0	139.0					2																	196741338		1836	4086	5922	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741338T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6047A>T	2.37:g.196741338T>A	ENSP00000311273:p.Gln2016Leu						p.Q2016L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			37	6148	-			2016			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6047A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678654	0.88542	.	.	ENSG00000118997	ENST00000312428	T	0.44083	0.93	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83985	0.0334	10	0.87932	D	0	.	15.5114	0.75786	0.0:0.0:0.0:1.0	.	2016	Q8WXX0	DYH7_HUMAN	L	2016	ENSP00000311273:Q2016L	ENSP00000311273:Q2016L	Q	-	2	0	DNAH7	196449583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.570000	0.82390	2.330000	0.79161	0.477000	0.44152	CAG		PASS	0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		41	111	41	111	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196883987	196883987	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:196883987G>T	ENST00000312428.6	-	9	876	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	DNAH7_ENST00000410072.1_Missense_Mutation_p.S259Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	259	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.S259Y(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCTAAAAAAGATTTCCTCCA	0.333																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(775-777)TCT>TAT		dynein, axonemal, heavy chain 7							78.0	74.0	75.0					2																	196883987		1802	4067	5869	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196883987G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.776C>A	2.37:g.196883987G>T	ENSP00000311273:p.Ser259Tyr						p.S259Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			9	877	-			259			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.776C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191034	0.78789	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.24908	1.83;2.55	5.93	5.93	0.95920	.	0.145783	0.46758	D	0.000272	T	0.33527	0.0866	M	0.73962	2.25	0.58432	D	0.999999	B	0.15141	0.012	B	0.14578	0.011	T	0.16158	-1.0412	10	0.18276	T	0.48	.	19.9387	0.97150	0.0:0.0:1.0:0.0	.	259	Q8WXX0	DYH7_HUMAN	Y	259	ENSP00000311273:S259Y;ENSP00000386260:S259Y	ENSP00000311273:S259Y	S	-	2	0	DNAH7	196592232	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.504000	0.81646	2.821000	0.97095	0.555000	0.69702	TCT		PASS	0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		26	110	26	110	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227924179	227924179	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:227924179A>G	ENST00000396625.3	-	28	2532	c.2325T>C	c.(2323-2325)ctT>ctC	p.L775L	COL4A4_ENST00000329662.7_Silent_p.L775L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	775	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.L775L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCACTCCTGAAAGACCCCTCT	0.602																																						uc010zlt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2323-2325)CTT>CTC		alpha 4 type IV collagen precursor							124.0	131.0	129.0					2																	227924179		1854	4079	5933	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924179A>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2325T>C	2.37:g.227924179A>G							p.L775L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2979	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	775			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.2325T>C	CCDS42828.1																																																																																				PASS	0.602	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		83	146	83	146	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1320115	1320115	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:1320115C>G	ENST00000446702.2	+	5	1004	c.377C>G	c.(376-378)aCt>aGt	p.T126S	CNTN6_ENST00000350110.2_Missense_Mutation_p.T126S|CNTN6_ENST00000539053.1_Missense_Mutation_p.T54S			Q9UQ52	CNTN6_HUMAN	contactin 6	126	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T126S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GACTTTGAAACTAAAACAAGA	0.368																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(376-378)ACT>AGT		contactin 6 precursor							93.0	91.0	92.0					3																	1320115		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1320115C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.377C>G	3.37:g.1320115C>G	ENSP00000407822:p.Thr126Ser					CNTN6_uc010hbo.2_Missense_Mutation_p.T121S|CNTN6_uc011asj.1_Missense_Mutation_p.T54S|CNTN6_uc003bpa.2_Missense_Mutation_p.T126S	p.T126S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	5	644	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	126			Ig-like C2-type 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.377C>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180983	0.38511	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67698	-0.28;-0.28;-0.28	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.381390	0.22718	N	0.056489	T	0.62539	0.2436	L	0.53617	1.68	0.45594	D	0.998533	B;B	0.21606	0.049;0.058	B;B	0.21917	0.037;0.017	T	0.58228	-0.7673	10	0.27785	T	0.31	.	15.5697	0.76323	0.0:1.0:0.0:0.0	.	54;126	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	S	126;54;126	ENSP00000407822:T126S;ENSP00000442791:T54S;ENSP00000341882:T126S	ENSP00000341882:T126S	T	+	2	0	CNTN6	1295115	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	3.673000	0.54591	2.476000	0.83614	0.650000	0.86243	ACT		PASS	0.368	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		51	65	51	65	---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11301811	11301811	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:11301811C>T	ENST00000397056.1	+	3	1279	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	HRH1_ENST00000438284.2_Missense_Mutation_p.S363L|HRH1_ENST00000431010.2_Missense_Mutation_p.S363L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	363					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.S363L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGAACGGACTCAGATACCACC	0.517																																						uc010hdr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1087-1089)TCA>TTA		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						137.0	121.0	126.0					3																	11301811		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301811C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1088C>T	3.37:g.11301811C>T	ENSP00000380247:p.Ser363Leu					HRH1_uc010hds.2_Missense_Mutation_p.S363L|HRH1_uc010hdt.2_Missense_Mutation_p.S363L|HRH1_uc003bwb.3_Missense_Mutation_p.S363L	p.S363L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	1430	+			363			Cytoplasmic (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.1088C>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890213	0.00527	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.68624	-0.34;-0.34;-0.34	5.94	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.834821	0.10886	N	0.623234	T	0.56587	0.1995	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.17433	0.018	T	0.45571	-0.9252	10	0.31617	T	0.26	-3.0883	8.2997	0.32006	0.0:0.7352:0.1273:0.1374	.	363	P35367	HRH1_HUMAN	L	363	ENSP00000406705:S363L;ENSP00000397028:S363L;ENSP00000380247:S363L	ENSP00000380247:S363L	S	+	2	0	HRH1	11276811	0.038000	0.19896	0.624000	0.29186	0.006000	0.05464	0.586000	0.23894	0.869000	0.35703	0.561000	0.74099	TCA		PASS	0.517	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			55	50	55	50	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19295285	19295285	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:19295285G>T	ENST00000328405.2	+	2	482	c.216G>T	c.(214-216)ggG>ggT	p.G72G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	72	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.G72G(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTTATTTGGGGTTGAAACCA	0.423																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(214-216)GGG>GGT		potassium voltage-gated channel, subfamily H,							151.0	163.0	159.0					3																	19295285		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19295285G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.216G>T	3.37:g.19295285G>T						KCNH8_uc011awe.1_Silent_p.G72G|KCNH8_uc010hex.1_5'UTR	p.G72G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			2	411	+			72			Cytoplasmic (Potential).|PAS.		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.216G>T	CCDS2632.1																																																																																				PASS	0.423	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		109	98	109	98	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38770244	38770244	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:38770244C>A	ENST00000449082.2	-	15	2428	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	810					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G810V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTAGTTTTCCCCTAGGAGCTG	0.517																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2428-2430)GGG>GTG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129.0	129.0	129.0					3																	38770244		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770244C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2429G>T	3.37:g.38770244C>A	ENSP00000390600:p.Gly810Val						p.G810V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2429	-			810			Helical; Name=S5 of repeat II; (Potential).|II.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2429G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885615	0.72410	.	.	ENSG00000185313	ENST00000449082	D	0.97906	-4.6	5.05	4.16	0.48862	Ion transport (1);	0.110809	0.64402	D	0.000009	D	0.99180	0.9716	H	0.98133	4.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	D	0.98903	1.0777	10	0.87932	D	0	.	15.2059	0.73177	0.0:0.8537:0.1463:0.0	.	810	Q9Y5Y9	SCNAA_HUMAN	V	810	ENSP00000390600:G810V	ENSP00000390600:G810V	G	-	2	0	SCN10A	38745248	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	5.888000	0.69758	1.309000	0.44985	0.655000	0.94253	GGG		PASS	0.517	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		41	54	41	54	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42727965	42727965	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:42727965G>A	ENST00000287777.4	+	1	955	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	285					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.K285K(1)									AGGCTGATAAGGGCACAAGCA	0.582																																						uc003clv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(853-855)AAG>AAA		kelch repeat and BTB (POZ) domain containing 5							152.0	151.0	151.0					3																	42727965		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42727965G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.855G>A	3.37:g.42727965G>A							p.K285K	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	955	+			285					Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.855G>A	CCDS2703.1																																																																																				PASS	0.582	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		91	107	91	107	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42729743	42729743	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:42729743A>T	ENST00000287777.4	+	2	1362	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	421					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.E421V(1)									GGTGGCAGAGAGATCAAGGAC	0.652																																						uc003clv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1261-1263)GAG>GTG		kelch repeat and BTB (POZ) domain containing 5							57.0	54.0	55.0					3																	42729743		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42729743A>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1262A>T	3.37:g.42729743A>T	ENSP00000287777:p.Glu421Val						p.E421V	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	2	1362	+			421			Kelch 2.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1262A>T	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924835	0.73213	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.72051	-0.62	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.68593	2.085	0.80722	D	1	B	0.15719	0.014	B	0.17722	0.019	T	0.70044	-0.4980	10	0.87932	D	0	.	14.4956	0.67685	1.0:0.0:0.0:0.0	.	421	Q2TBA0	KBTB5_HUMAN	V	421;166	ENSP00000287777:E421V	ENSP00000287777:E421V	E	+	2	0	KBTBD5	42704747	1.000000	0.71417	0.958000	0.39756	0.902000	0.53008	8.939000	0.92951	1.826000	0.53198	0.374000	0.22700	GAG		PASS	0.652	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		27	63	27	63	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52538859	52538859	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:52538859G>T	ENST00000321725.6	+	12	1420	c.1344G>T	c.(1342-1344)ggG>ggT	p.G448G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	448	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G448G(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGCTGGCCGGGCAGGAGATCA	0.607																																						uc003dej.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1342-1344)GGG>GGT		stabilin 1 precursor							83.0	77.0	79.0					3																	52538859		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538859G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1344G>T	3.37:g.52538859G>T						STAB1_uc003dei.1_Silent_p.G448G	p.G448G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	12	1418	+			448			Extracellular (Potential).|FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1344G>T	CCDS33768.1																																																																																				PASS	0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		26	19	26	19	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52551966	52551966	+	Missense_Mutation	SNP	G	G	A	rs147254311		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:52551966G>A	ENST00000321725.6	+	45	4784	c.4708G>A	c.(4708-4710)Gac>Aac	p.D1570N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1570	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.D1570N(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGTACCTGCGACACAGCCCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18123	0.001		0.0	False		,,,				2504	0.0					uc003dej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(4708-4710)GAC>AAC		stabilin 1 precursor		G	ASN/ASP	4,4402	6.2+/-15.9	0,4,2199	67.0	64.0	65.0		4708	3.0	0.5	3	dbSNP_134	65	0,8600		0,0,4300	yes	missense	STAB1	NM_015136.2	23	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	1570/2571	52551966	4,13002	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551966G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4708G>A	3.37:g.52551966G>A	ENSP00000312946:p.Asp1570Asn					STAB1_uc003dek.1_5'Flank	p.D1570N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	45	4782	+			1570			Extracellular (Potential).|EGF-like 13.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4708G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	6.202	0.405376	0.11754	9.08E-4	0.0	ENSG00000010327	ENST00000321725	D	0.84516	-1.86	4.81	2.99	0.34606	FAS1 domain (2);Epidermal growth factor-like, type 3 (1);	0.173761	0.27710	N	0.018172	T	0.73048	0.3537	L	0.39633	1.23	0.09310	N	1	P	0.51351	0.944	B	0.40636	0.335	T	0.62714	-0.6796	10	0.20519	T	0.43	.	4.0873	0.09953	0.1952:0.0:0.6038:0.2011	.	1570	Q9NY15	STAB1_HUMAN	N	1570	ENSP00000312946:D1570N	ENSP00000312946:D1570N	D	+	1	0	STAB1	52527006	0.000000	0.05858	0.462000	0.27118	0.285000	0.27093	0.100000	0.15231	1.159000	0.42565	0.655000	0.94253	GAC		PASS	0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		33	29	33	29	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64554154	64554154	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:64554154C>G	ENST00000498707.1	-	29	4756	c.4414G>C	c.(4414-4416)Gat>Cat	p.D1472H	ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1444H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1472	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1472H(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCTTCCATCTTTTGCCATG	0.443																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(4414-4416)GAT>CAT		ADAM metallopeptidase with thrombospondin type 1							154.0	142.0	146.0					3																	64554154		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64554154C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4414G>C	3.37:g.64554154C>G	ENSP00000418735:p.Asp1472His					ADAMTS9_uc011bfo.1_Missense_Mutation_p.D1444H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D1301H|ADAMTS9_uc011bfp.1_Missense_Mutation_p.D383H|uc003dmi.1_Intron	p.D1472H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	29	4446	-		Lung NSC(201;0.00682)	1472			TSP type-1 11.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4414G>C	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.955330|3.955330	0.73902|0.73902	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|T	0.54866|0.51817	0.55;0.55|0.69	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.197038|.	0.45867|.	D|.	0.000327|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	P;D;P|.	0.58970|.	0.953;0.984;0.923|.	P;P;P|.	0.61800|.	0.738;0.894;0.738|.	T|T	0.37641|0.37641	-0.9697|-0.9697	10|7	0.33940|0.27082	T|T	0.23|0.32	.|.	20.3046|20.3046	0.98621|0.98621	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1444;1472;1472|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	H|N	1444;1472|527	ENSP00000295903:D1444H;ENSP00000418735:D1472H|ENSP00000417521:K527N	ENSP00000295903:D1444H|ENSP00000417521:K527N	D|K	-|-	1|3	0|2	ADAMTS9|ADAMTS9	64529194|64529194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.358000|4.358000	0.59442|0.59442	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAT|AAG		PASS	0.443	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			11	91	11	91	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77607259	77607259	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:77607259A>G	ENST00000461745.1	+	9	2296	c.1396A>G	c.(1396-1398)Aca>Gca	p.T466A	ROBO2_ENST00000332191.8_Missense_Mutation_p.T466A|ROBO2_ENST00000487694.3_Missense_Mutation_p.T482A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	466	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.T466A(1)|p.T482A(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAAGAGCAACAATTCAAGA	0.398																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1396-1398)ACA>GCA		roundabout, axon guidance receptor, homolog 2							99.0	97.0	98.0					3																	77607259		1886	4123	6009	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77607259A>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1396A>G	3.37:g.77607259A>G	ENSP00000417164:p.Thr466Ala					ROBO2_uc003dpz.2_Missense_Mutation_p.T470A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T470A	p.T466A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	9	2039	+			466			Ig-like C2-type 5.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1396A>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342191	0.24339	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.66460	-0.21;-0.21;-0.21	5.68	1.17	0.20885	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149633	0.30311	N	0.009920	T	0.58075	0.2097	L	0.55990	1.75	0.30523	N	0.768219	B;B;B	0.12630	0.006;0.005;0.004	B;B;B	0.22152	0.016;0.016;0.038	T	0.61058	-0.7139	9	0.39692	T	0.17	.	9.8607	0.41112	0.3827:0.0:0.0:0.6173	.	482;466;466	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	A	482;482;486;466;466;187	ENSP00000417335:T482A;ENSP00000417164:T466A;ENSP00000327536:T466A	ENSP00000327536:T466A	T	+	1	0	ROBO2	77689949	1.000000	0.71417	0.368000	0.25939	0.168000	0.22595	3.642000	0.54367	0.459000	0.27016	0.477000	0.44152	ACA		PASS	0.398	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		20	76	20	76	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78706414	78706415	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:78706414_78706415CC>AG	ENST00000464233.1	-	18	2560_2561	c.2447_2448GG>CT	c.(2446-2448)tGG>tCT	p.W816S	ROBO1_ENST00000467549.1_Missense_Mutation_p.W780S|ROBO1_ENST00000495273.1_Missense_Mutation_p.W780S|ROBO1_ENST00000436010.2_Missense_Mutation_p.W777S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	816	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.W816S(2)|p.W820S(2)|p.W793S(2)|p.W780S(2)|p.W793C(1)|p.W816C(1)|p.W820C(1)|p.W780C(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCCCAGACACCAAACCTGTAA	0.426																																						uc003dqe.2																			12	Substitution - Missense(12)		lung(12)	large_intestine(2)	2						c.(2446-2448)TGG>TGT|c.(2446-2448)TGG>TCG		roundabout 1 isoform a																																				SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78706414C>A|g.chr3:78706415C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2447_2448delinsAG	3.37:g.78706414_78706415delinsAG	ENSP00000420321:p.Trp816Ser					ROBO1_uc003dqb.2_Missense_Mutation_p.W777C|ROBO1_uc003dqc.2_Missense_Mutation_p.W780C|ROBO1_uc003dqd.2_Missense_Mutation_p.W780C|ROBO1_uc010hoh.2_Missense_Mutation_p.W8C|ROBO1_uc011bgl.1_Missense_Mutation_p.W388C|ROBO1_uc003dqb.2_Missense_Mutation_p.W777S|ROBO1_uc003dqc.2_Missense_Mutation_p.W780S|ROBO1_uc003dqd.2_Missense_Mutation_p.W780S|ROBO1_uc010hoh.2_Missense_Mutation_p.W8S|ROBO1_uc011bgl.1_Missense_Mutation_p.W388S	p.W816C|p.W816S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	18	2656|2655	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	816			Extracellular (Potential).|Fibronectin type-III 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2448G>T|c.2447G>C	CCDS54611.1																																																																																				PASS	0.426	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		10	23	10	23	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134880897	134880897	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:134880897A>T	ENST00000398015.3	+	7	1830	c.1460A>T	c.(1459-1461)cAg>cTg	p.Q487L	EPHB1_ENST00000493838.1_Missense_Mutation_p.Q48L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	487	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Q487L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCAGGAGTCAGACCAACACA	0.547																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1459-1461)CAG>CTG		ephrin receptor EphB1 precursor							102.0	107.0	105.0					3																	134880897		2105	4245	6350	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134880897A>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1460A>T	3.37:g.134880897A>T	ENSP00000381097:p.Gln487Leu					EPHB1_uc003equ.2_Missense_Mutation_p.Q48L	p.Q487L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			7	1680	+			487			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1460A>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956532	0.73902	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.58210	0.35;0.35	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063065	0.64402	D	0.000004	T	0.51058	0.1652	L	0.55990	1.75	0.80722	D	1	B	0.25563	0.129	B	0.24848	0.056	T	0.51458	-0.8703	10	0.59425	D	0.04	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	487	P54762	EPHB1_HUMAN	L	487;48	ENSP00000381097:Q487L;ENSP00000419574:Q48L	ENSP00000381097:Q487L	Q	+	2	0	EPHB1	136363587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.200000	0.77838	2.326000	0.78906	0.533000	0.62120	CAG		PASS	0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		16	162	16	162	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173996793	173996793	+	Silent	SNP	A	A	G	rs367555290		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:173996793A>G	ENST00000457714.1	+	6	1431	c.1002A>G	c.(1000-1002)ctA>ctG	p.L334L	NLGN1_ENST00000401917.3_Silent_p.L374L|NLGN1_ENST00000545397.1_Silent_p.L334L|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Silent_p.L334L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	351					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.L334L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGGAATGCCTACAGAAGAAGC	0.423																																						uc003fio.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1000-1002)CTA>CTG		neuroligin 1		A		0,4406		0,0,2203	191.0	173.0	179.0		1002	-11.0	0.2	3		179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLGN1	NM_014932.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		334/824	173996793	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996793A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1002A>G	3.37:g.173996793A>G						NLGN1_uc010hww.1_Silent_p.L374L|NLGN1_uc003fip.1_Silent_p.L334L	p.L334L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1425	+	Ovarian(172;0.0025)		351			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1002A>G	CCDS3222.1																																																																																				PASS	0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		38	500	38	500	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179051541	179051541	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr3:179051541A>G	ENST00000326361.3	+	7	1234	c.789A>G	c.(787-789)aaA>aaG	p.K263K	ZNF639_ENST00000496856.1_Silent_p.K263K|ZNF639_ENST00000484866.1_Silent_p.K263K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	263					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K263K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACATTTGTAAATACTGTGATT	0.393																																						uc003fjq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)AAA>AAG		zinc finger protein 639							92.0	91.0	92.0					3																	179051541		2203	4300	6503	SO:0001819	synonymous_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051541A>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.789A>G	3.37:g.179051541A>G						ZNF639_uc003fjr.1_Silent_p.K263K	p.K263K	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1132	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		263			C2H2-type 3.		A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	37	c.789A>G	CCDS3227.1																																																																																				PASS	0.393	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		93	207	93	207	---	---	---	---
LRPAP1	4043	broad.mit.edu	37	4	3521853	3521853	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:3521853A>T	ENST00000500728.2	-	3	563	c.417T>A	c.(415-417)agT>agA	p.S139R	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	139					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S139R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCTGGGTGCCACTGAGGGAGT	0.537																																						uc003ghi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(415-417)AGT>AGA		low density lipoprotein receptor-related protein							121.0	110.0	114.0					4																	3521853		2203	4300	6503	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3521853A>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.417T>A	4.37:g.3521853A>T	ENSP00000421922:p.Ser139Arg						p.S139R	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	3	502	-			139					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.417T>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	A	0.848	-0.739444	0.03088	.	.	ENSG00000163956	ENST00000500728	T	0.32023	1.47	4.58	-3.84	0.04256	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);	0.779436	0.12154	N	0.494602	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	B	0.20164	0.042	B	0.19666	0.026	T	0.16364	-1.0405	10	0.42905	T	0.14	-0.0291	3.9443	0.09341	0.232:0.1566:0.4835:0.1279	.	139	P30533	AMRP_HUMAN	R	139	ENSP00000421922:S139R	ENSP00000421922:S139R	S	-	3	2	LRPAP1	3491651	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	-0.462000	0.06704	-0.784000	0.04528	-0.376000	0.06991	AGT		PASS	0.537	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			28	40	28	40	---	---	---	---
COX7B2	170712	broad.mit.edu	37	4	46737167	46737167	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:46737167T>A	ENST00000396533.1	-	4	293	c.43A>T	c.(43-45)Att>Ttt	p.I15F	COX7B2_ENST00000543208.1_Missense_Mutation_p.I14F|COX7B2_ENST00000302930.5_Missense_Mutation_p.I15F|COX7B2_ENST00000355591.3_Missense_Mutation_p.I15F			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	15						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.I14F(1)		large_intestine(1)|lung(4)	5						ATGCTTTGAATCTTGAGACTG	0.428																																						uc003gxf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)ATT>TTT		cytochrome c oxidase subunit VIIb2 precursor							144.0	126.0	132.0					4																	46737167		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737167T>A	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.43A>T	4.37:g.46737167T>A	ENSP00000379784:p.Ile15Phe					COX7B2_uc010ige.2_RNA	p.I15F	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	223	-			15					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.43A>T	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530033	0.27387	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.22	3.01	0.34805	.	0.896444	0.09512	N	0.792226	T	0.39759	0.1090	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.41036	0.346	T	0.20538	-1.0272	9	0.54805	T	0.06	-6.9479	7.9754	0.30151	0.0:0.0:0.2073:0.7927	.	15	Q8TF08	CX7B2_HUMAN	F	15;15;15;14;15	ENSP00000347799:I15F;ENSP00000379784:I15F;ENSP00000305964:I15F;ENSP00000437439:I14F;ENSP00000423519:I15F	ENSP00000305964:I15F	I	-	1	0	COX7B2	46431924	0.099000	0.21834	0.055000	0.19348	0.167000	0.22549	1.956000	0.40382	0.936000	0.37367	0.477000	0.44152	ATT		PASS	0.428	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		11	115	11	115	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559926	47559926	+	Silent	SNP	T	T	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:47559926T>G	ENST00000273859.3	+	12	2339	c.2070T>G	c.(2068-2070)gcT>gcG	p.A690A	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	690					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.A690A(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						GTAGCTCAGCTTGCTGCACAG	0.552																																						uc003gxk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2068-2070)GCT>GCG		ATPase, class V, type 10D							71.0	69.0	70.0					4																	47559926		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:47559926T>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.2070T>G	4.37:g.47559926T>G						ATP10D_uc003gxl.1_Intron	p.A690A	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			12	2234	+			690			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2070T>G	CCDS3476.1																																																																																				PASS	0.552	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		28	91	28	91	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70070204	70070204	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:70070204G>C	ENST00000446444.1	-	5	1262	c.1254C>G	c.(1252-1254)aaC>aaG	p.N418K	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	418					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N418K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCGACATTGTGTTGAAGTCCA	0.428																																						uc003heh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1252-1254)AAC>AAG		UDP glucuronosyltransferase 2 family,							211.0	201.0	205.0					4																	70070204		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070204G>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1254C>G	4.37:g.70070204G>C	ENSP00000387683:p.Asn418Lys					uc003hei.1_Intron	p.N418K	NM_001073	NP_001064	O75310	UDB11_HUMAN			5	1263	-			418					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1254C>G	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.640464	0.00112	.	.	ENSG00000213759	ENST00000446444	T	0.57752	0.38	1.96	-3.91	0.04168	.	0.656368	0.12800	U	0.438097	T	0.29423	0.0733	L	0.28649	0.875	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13926	-1.0491	10	0.22706	T	0.39	.	3.1368	0.06442	0.2683:0.0:0.3927:0.3389	.	418	O75310	UDB11_HUMAN	K	418	ENSP00000387683:N418K	ENSP00000387683:N418K	N	-	3	2	UGT2B11	70104793	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.838000	0.04372	-1.050000	0.03230	0.184000	0.17185	AAC		PASS	0.428	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		77	259	77	259	---	---	---	---
GC	2638	broad.mit.edu	37	4	72634150	72634151	+	Splice_Site	DNP	CC	CC	AA	rs112961993		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:72634150_72634151CC>AA	ENST00000273951.8	-	3	472	c.129_129GG>TT	c.(127-129)ctGG>ctTTg	p.L43L	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Splice_Site_p.L62L|GC_ENST00000513476.1_Splice_Site_p.L43L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	43	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.?(4)|p.L62L(1)|p.L43L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GGACTAGTGACCTGAGGGGAAA	0.46																																						uc003hge.2																			6	Unknown(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(127-129)CTG>CTT|c.e3-1		vitamin D-binding protein precursor	Cholecalciferol(DB00169)																																			SO:0001630	splice_region_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634150C>A|g.chr4:72634151C>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.129_129delinsAA	4.37:g.72634150_72634151delinsAA						GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.L43L|GC_uc010iif.2_Silent_p.L62L|GC_uc003hgd.2_Splice_Site|GC_uc010iie.2_Splice_Site_p.L43_splice|GC_uc010iif.2_Splice_Site_p.L62_splice	p.L43L|p.L43_splice	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		3	282	-		all_hematologic(202;0.107)	43|			Albumin 1.|		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent|Splice_Site	SNP	ENST00000273951.8	37	c.129G>T|c.129_splice	CCDS3550.1																																																																																				PASS	0.460	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		Silent	21	45|44	21	44	---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78870974	78870974	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:78870974A>G	ENST00000315567.8	+	8	1130	c.801A>G	c.(799-801)atA>atG	p.I267M		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	267					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I267M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GTGACCAGATAGCTGCCAATC	0.358																																						uc003hku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)ATA>ATG		mitochondrial ribosomal protein L1 precursor							125.0	124.0	125.0					4																	78870974		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78870974A>G	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.801A>G	4.37:g.78870974A>G	ENSP00000315017:p.Ile267Met					MRPL1_uc010iji.1_Intron	p.I267M	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			8	999	+			267					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.801A>G	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.33|17.33	3.362546|3.362546	0.61403|0.61403	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000504901	T|.	0.56611|.	0.45|.	5.95|5.95	3.51|3.51	0.40186|0.40186	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);|.	0.094180|.	0.64402|.	D|.	0.000001|.	T|.	0.65238|.	0.2672|.	M|M	0.77103|0.77103	2.36|2.36	0.50039|0.50039	D|D	0.999845|0.999845	P|.	0.49185|.	0.92|.	P|.	0.52909|.	0.713|.	T|.	0.61811|.	-0.6986|.	10|.	0.72032|.	D|.	0.01|.	-11.0817|-11.0817	7.0179|7.0179	0.24899|0.24899	0.7749:0.1491:0.076:0.0|0.7749:0.1491:0.076:0.0	.|.	267|.	Q9BYD6|.	RM01_HUMAN|.	M|W	267;245|61	ENSP00000315017:I267M|.	ENSP00000315017:I267M|.	I|X	+|+	3|2	3|0	MRPL1|MRPL1	79089998|79089998	1.000000|1.000000	0.71417|0.71417	0.838000|0.838000	0.33150|0.33150	0.932000|0.932000	0.56968|0.56968	3.399000|3.399000	0.52586|0.52586	0.496000|0.496000	0.27904|0.27904	-0.316000|-0.316000	0.08728|0.08728	ATA|TAG		PASS	0.358	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		52	83	52	83	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79322022	79322022	+	Silent	SNP	A	A	G	rs577149422		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:79322022A>G	ENST00000325942.6	+	30	4550	c.4110A>G	c.(4108-4110)acA>acG	p.T1370T	FRAS1_ENST00000264895.6_Silent_p.T1370T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1370					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.T1370T(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATTACACAAGACTACC	0.483																																						uc003hlb.2																			3	Substitution - coding silent(3)		lung(3)	large_intestine(5)	5						c.(4108-4110)ACA>ACG		Fraser syndrome 1							87.0	88.0	88.0					4																	79322022		1912	4121	6033	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79322022A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4110A>G	4.37:g.79322022A>G						FRAS1_uc003hkw.2_Silent_p.T1370T	p.T1370T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			30	4550	+			1369			CSPG 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4110A>G	CCDS54772.1																																																																																				PASS	0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			21	33	21	33	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79418102	79418102	+	Silent	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:79418102C>A	ENST00000264895.6	+	60	9542	c.9102C>A	c.(9100-9102)tcC>tcA	p.S3034S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3030	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.S3034S(1)|p.S3035S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCATATCCAATGATGAAG	0.388																																						uc003hlb.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(5)	5						c.(9100-9102)TCC>TCA		Fraser syndrome 1							100.0	95.0	96.0					4																	79418102		1892	4126	6018	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79418102C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9102C>A	4.37:g.79418102C>A						FRAS1_uc003hlc.1_Silent_p.S36S	p.S3034S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			60	9542	+			3029			Calx-beta 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9102C>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893149	0.17613	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.42	4.58	0.56647	.	.	.	.	.	T	0.63733	0.2536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62105	-0.6924	4	.	.	.	.	12.2118	0.54383	0.0:0.8579:0.0:0.1421	.	.	.	.	K	1263	.	.	Q	+	1	0	FRAS1	79637126	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.129000	0.31381	1.279000	0.44446	0.650000	0.86243	CAA		PASS	0.388	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	103	25	103	---	---	---	---
ABCG2	9429	broad.mit.edu	37	4	89052313	89052313	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:89052313G>T	ENST00000237612.3	-	5	976	c.431C>A	c.(430-432)gCa>gAa	p.A144E	ABCG2_ENST00000515655.1_Missense_Mutation_p.A144E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	144	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A144E(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCGAAGAGCTGCTGAGAACTG	0.403																																						uc003hrg.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(430-432)GCA>GAA		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						217.0	196.0	203.0					4																	89052313		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052313G>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.431C>A	4.37:g.89052313G>T	ENSP00000237612:p.Ala144Glu					ABCG2_uc003hrh.2_Missense_Mutation_p.A144E|ABCG2_uc003hrf.2_Missense_Mutation_p.A14E	p.A144E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	924	-		Hepatocellular(203;0.114)	144			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.431C>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430365	0.96150	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.79647	-0.1716	10	0.87932	D	0	-1.7957	19.0867	0.93206	0.0:0.0:1.0:0.0	.	144;144;144	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	E	144	ENSP00000426917:A144E;ENSP00000237612:A144E	ENSP00000237612:A144E	A	-	2	0	ABCG2	89271337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.677000	0.91161	0.655000	0.94253	GCA		PASS	0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		53	186	53	186	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102942683	102942683	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:102942683G>A	ENST00000322953.4	+	8	1493	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	BANK1_ENST00000508653.1_Missense_Mutation_p.D274N|BANK1_ENST00000428908.1_Missense_Mutation_p.D274N|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000504592.1_Missense_Mutation_p.D392N|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Missense_Mutation_p.D377N	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	407					B cell activation (GO:0042113)			p.D407N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCAAGAAATTGACATAAATAA	0.249																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1219-1221)GAC>AAC		B-cell scaffold protein with ankyrin repeats 1							25.0	29.0	27.0					4																	102942683		2158	4232	6390	SO:0001583	missense	55024				B cell activation			g.chr4:102942683G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1219G>A	4.37:g.102942683G>A	ENSP00000320509:p.Asp407Asn					BANK1_uc003hvx.3_Missense_Mutation_p.D392N|BANK1_uc010ill.2_Missense_Mutation_p.D274N|BANK1_uc003hvz.3_Missense_Mutation_p.D377N	p.D407N	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1493	+		Hepatocellular(203;0.217)	407			ANK 2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1219G>A	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.732650	0.00687	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19105	2.84;2.82;2.17;2.17;2.83	4.25	-0.194	0.13240	.	0.853265	0.09963	N	0.733125	T	0.05410	0.0143	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.40572	-0.9556	10	0.17369	T	0.5	.	2.463	0.04546	0.4429:0.0:0.3364:0.2207	.	274;407;392	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	N	392;407;274;274;377	ENSP00000421443:D392N;ENSP00000320509:D407N;ENSP00000412748:D274N;ENSP00000422314:D274N;ENSP00000388817:D377N	ENSP00000320509:D407N	D	+	1	0	BANK1	103161706	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.142000	0.10311	0.206000	0.20587	0.655000	0.94253	GAC		PASS	0.249	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		18	37	18	37	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104577502	104577502	+	Splice_Site	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:104577502C>G	ENST00000304883.2	-	3	878		c.e3-1			NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3						aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.?(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AATATGGTAACTATGAAAAAT	0.353																																						uc003hxe.1																			1	Unknown(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.e3-1		tachykinin receptor 3							72.0	71.0	71.0					4																	104577502		2203	4299	6502	SO:0001630	splice_region_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577502C>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.738-1G>C	4.37:g.104577502C>G							p.T246_splice	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	881	-		Hepatocellular(203;0.217)						Q0P510	Splice_Site	SNP	ENST00000304883.2	37	c.738_splice	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030067	0.54790	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TACR3	104796951	1.000000	0.71417	0.324000	0.25361	0.006000	0.05464	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	.		PASS	0.353	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	Intron	24	93	24	93	---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128725004	128725004	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:128725004T>C	ENST00000296464.4	+	7	1295	c.884T>C	c.(883-885)cTt>cCt	p.L295P	HSPA4L_ENST00000508776.1_Missense_Mutation_p.L295P|HSPA4L_ENST00000505726.1_Missense_Mutation_p.L269P|HSPA4L_ENST00000439123.2_Missense_Mutation_p.L326P	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	295					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L295P(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATGAATGACCTTGATGTTTCT	0.323																																						uc003ifm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(883-885)CTT>CCT		heat shock 70kDa protein 4-like							62.0	65.0	64.0					4																	128725004		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128725004T>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.884T>C	4.37:g.128725004T>C	ENSP00000296464:p.Leu295Pro					HSPA4L_uc010iny.1_Missense_Mutation_p.L254P|HSPA4L_uc011cgr.1_Missense_Mutation_p.L262P	p.L295P	NM_014278	NP_055093	O95757	HS74L_HUMAN			7	1137	+			295					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.884T>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629575	0.67015	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	4.66	4.66	0.58398	.	0.072106	0.49916	D	0.000130	T	0.04318	0.0119	L	0.51422	1.61	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.989	D;D;D	0.65323	0.934;0.913;0.913	T	0.50792	-0.8786	10	0.56958	D	0.05	.	14.2579	0.66065	0.0:0.0:0.0:1.0	.	269;295;295	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	P	295;326;295;254;269	ENSP00000422482:L295P;ENSP00000393926:L326P;ENSP00000296464:L295P;ENSP00000427305:L254P;ENSP00000425645:L269P	ENSP00000296464:L295P	L	+	2	0	HSPA4L	128944454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	1.968000	0.57251	0.477000	0.44152	CTT		PASS	0.323	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		24	81	24	81	---	---	---	---
GYPE	2996	broad.mit.edu	37	4	144797984	144797984	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr4:144797984G>A	ENST00000358615.4	-	3	212	c.161C>T	c.(160-162)gCg>gTg	p.A54V	GYPE_ENST00000437468.2_Missense_Mutation_p.A54V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	54						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A54V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					ACGAGCCATCGCCCACCAATT	0.348																																						uc003ijj.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(160-162)GCG>GTG		glycophorin E precursor							114.0	108.0	110.0					4																	144797984		1986	4187	6173	SO:0001583	missense	2996					integral to plasma membrane		g.chr4:144797984G>A		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.161C>T	4.37:g.144797984G>A	ENSP00000351430:p.Ala54Val					GYPE_uc010ion.2_Intron|GYPE_uc003ijk.3_Missense_Mutation_p.A54V	p.A54V	NM_198682	NP_941391	P15421	GLPE_HUMAN			3	217	-	all_hematologic(180;0.158)		54			Helical; (Potential).		D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	37	c.161C>T	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	G	5.118	0.207421	0.09704	.	.	ENSG00000197465	ENST00000358615;ENST00000437468	T;T	0.03689	3.84;3.84	.	.	.	.	.	.	.	.	T	0.03053	0.0090	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.41770	-0.9490	6	0.66056	D	0.02	.	.	.	.	.	54	P15421	GLPE_HUMAN	V	54	ENSP00000351430:A54V;ENSP00000400698:A54V	ENSP00000351430:A54V	A	-	2	0	GYPE	145017434	0.163000	0.22920	0.048000	0.18961	0.072000	0.16883	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	GCG		PASS	0.348	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		26	9	26	9	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26906871	26906871	+	Missense_Mutation	SNP	G	G	T	rs369818577		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:26906871G>T	ENST00000231021.4	-	4	772	c.600C>A	c.(598-600)agC>agA	p.S200R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S200R(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTGCAATATGCTATAGACCA	0.383																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(598-600)AGC>AGA		cadherin 9, type 2 preproprotein							121.0	107.0	112.0					5																	26906871		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906871G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.600C>A	5.37:g.26906871G>T	ENSP00000231021:p.Ser200Arg					CDH9_uc010iug.2_Missense_Mutation_p.S200R	p.S200R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			4	769	-			200			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.600C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591706	0.66219	.	.	ENSG00000113100	ENST00000231021	T	0.54071	0.59	5.69	1.95	0.26073	Cadherin (4);Cadherin-like (1);	0.081356	0.85682	N	0.000000	T	0.58906	0.2155	L	0.46885	1.475	0.44006	D	0.996714	D	0.89917	1.0	D	0.97110	1.0	T	0.52653	-0.8547	9	.	.	.	.	6.1903	0.20520	0.2851:0.1255:0.5893:0.0	.	200	Q9ULB4	CADH9_HUMAN	R	200	ENSP00000231021:S200R	.	S	-	3	2	CDH9	26942628	1.000000	0.71417	0.982000	0.44146	0.930000	0.56654	1.062000	0.30555	0.072000	0.16694	-0.126000	0.14955	AGC		PASS	0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	94	16	94	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33936966	33936966	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:33936966G>T	ENST00000330120.3	+	1	476	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	41					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.A41S(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTGGTAACGCGTCGCTGCA	0.667																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(121-123)GCG>TCG		relaxin/insulin-like family peptide receptor 3							71.0	82.0	78.0					5																	33936966		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33936966G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.121G>T	5.37:g.33936966G>T	ENSP00000328708:p.Ala41Ser						p.A41S	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	478	+			41			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.121G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459773	0.43736	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.43	4.56	0.56223	.	0.764820	0.11256	N	0.583080	T	0.59569	0.2203	N	0.24115	0.695	0.31481	N	0.667193	B	0.24483	0.104	B	0.23150	0.044	T	0.59016	-0.7533	10	0.34782	T	0.22	-6.1296	14.5127	0.67800	0.0707:0.0:0.9293:0.0	.	41	Q9NSD7	RL3R1_HUMAN	S	41	ENSP00000328708:A41S	ENSP00000328708:A41S	A	+	1	0	RXFP3	33972723	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.171000	0.50824	1.435000	0.47434	0.655000	0.94253	GCG		PASS	0.667	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		40	159	40	159	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36038083	36038083	+	Missense_Mutation	SNP	C	C	G	rs199618002		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:36038083C>G	ENST00000282507.3	-	6	1212	c.1111G>C	c.(1111-1113)Ggg>Cgg	p.G371R	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G337R|UGT3A2_ENST00000545528.1_Missense_Mutation_p.G69R|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	371					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.G371R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATTCTGCCCGCCGTGGGTG	0.502																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1111-1113)GGG>CGG		UDP glycosyltransferase 3 family, polypeptide A2							73.0	77.0	75.0					5																	36038083		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36038083C>G		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1111G>C	5.37:g.36038083C>G	ENSP00000282507:p.Gly371Arg					UGT3A2_uc011cos.1_Missense_Mutation_p.G337R|UGT3A2_uc011cot.1_Missense_Mutation_p.G69R	p.G371R	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1204	-	all_lung(31;0.000179)		371			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1111G>C	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493274	0.44352	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	D;D;T	0.96459	-4.02;-4.02;-0.71	3.32	2.45	0.29901	.	0.000000	0.64402	U	0.000003	D	0.98617	0.9537	H	0.98027	4.13	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98190	1.0462	10	0.87932	D	0	.	10.1099	0.42557	0.0:0.8942:0.0:0.1058	.	337;371	E9PFK7;Q3SY77	.;UD3A2_HUMAN	R	371;337;69	ENSP00000282507:G371R;ENSP00000427404:G337R;ENSP00000445367:G69R	ENSP00000282507:G371R	G	-	1	0	UGT3A2	36073840	0.990000	0.36364	0.059000	0.19551	0.342000	0.28953	3.826000	0.55738	0.967000	0.38186	0.563000	0.77884	GGG		PASS	0.502	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		34	148	34	148	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36049408	36049408	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:36049408C>T	ENST00000282507.3	-	4	527	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UGT3A2_ENST00000513300.1_Silent_p.V108V|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	142					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V142V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCAACTATCACCATGTCGA	0.378																																						uc003jjz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(424-426)GTG>GTA		UDP glycosyltransferase 3 family, polypeptide A2							76.0	73.0	74.0					5																	36049408		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049408C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.426G>A	5.37:g.36049408C>T						UGT3A2_uc011cos.1_Silent_p.V108V|UGT3A2_uc011cot.1_Intron	p.V142V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	519	-	all_lung(31;0.000179)		142			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.426G>A	CCDS3914.1																																																																																				PASS	0.378	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		19	198	19	198	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38931986	38931986	+	Splice_Site	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:38931986C>T	ENST00000274276.3	+	16	2616	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	738					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.S738S(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)					CTCGTTCAGCCTCGATGCTGA	0.373																																						uc003jln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2212-2214)TCC>TCT		oncostatin M receptor precursor							192.0	176.0	181.0					5																	38931986		2203	4300	6503	SO:0001630	splice_region_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38931986C>T	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.2213-1C>T	5.37:g.38931986C>T						OSMR_uc011cpj.1_Intron	p.S738S	NM_003999	NP_003990	Q99650	OSMR_HUMAN			16	2581	+	all_lung(31;0.000365)		738			Extracellular (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.2214C>T	CCDS3928.1																																																																																				PASS	0.373	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	Silent	49	255	49	255	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43122223	43122223	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:43122223G>T	ENST00000399534.1	+	2	112	c.68G>T	c.(67-69)cGa>cTa	p.R23L	ZNF131_ENST00000306938.4_Missense_Mutation_p.R23L|ZNF131_ENST00000505606.2_Missense_Mutation_p.R23L|ZNF131_ENST00000509156.1_Missense_Mutation_p.R23L|ZNF131_ENST00000509634.1_Missense_Mutation_p.R23L|ZNF131_ENST00000509931.1_Missense_Mutation_p.R23L			P52739	ZN131_HUMAN	zinc finger protein 131	23					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R23L(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCCTCGACCGATTGAATGAA	0.512																																						uc011cpw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CGA>CTA		zinc finger protein 131							98.0	96.0	97.0					5																	43122223		1915	4141	6056	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43122223G>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.68G>T	5.37:g.43122223G>T	ENSP00000382450:p.Arg23Leu					ZNF131_uc010ivl.1_Missense_Mutation_p.R23L|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.R23L|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_RNA|ZNF131_uc010ivm.1_RNA|ZNF131_uc003jnm.2_Missense_Mutation_p.R23L	p.R23L	NM_003432	NP_003423	P52739	ZN131_HUMAN			2	104	+			23					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.68G>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.766575	0.49574	.	.	ENSG00000172262	ENST00000507393;ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341;ENST00000509931	T;T;T;T;T;T;T;T;T	0.70045	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;-0.45	4.26	3.4	0.38934	BTB/POZ fold (2);	0.079009	0.49916	U	0.000134	T	0.69851	0.3157	L	0.31804	0.96	0.38381	D	0.945128	D;D;B	0.69078	0.997;0.993;0.095	D;D;B	0.71184	0.968;0.972;0.041	T	0.73920	-0.3830	10	0.66056	D	0.02	-3.5358	11.3466	0.49565	0.0905:0.0:0.9095:0.0	.	23;23;23	P52739;B3KQ42;P52739-2	ZN131_HUMAN;.;.	L	71;23;23;23;23;23;23;23;23;23	ENSP00000422079:R23L;ENSP00000426504:R23L;ENSP00000422659:R23L;ENSP00000305804:R23L;ENSP00000382450:R23L;ENSP00000423945:R23L;ENSP00000421246:R23L;ENSP00000424771:R23L;ENSP00000425722:R23L	ENSP00000305804:R23L	R	+	2	0	ZNF131	43157980	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.076000	0.71267	1.148000	0.42385	-0.142000	0.14014	CGA		PASS	0.512	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		39	202	39	202	---	---	---	---
F2R	2149	broad.mit.edu	37	5	76029116	76029116	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:76029116T>C	ENST00000319211.4	+	2	1331	c.1066T>C	c.(1066-1068)Tgt>Cgt	p.C356R		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	356					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.C356R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTACCTCCTCTGTGTCTGTGT	0.493																																						uc003ken.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1066-1068)TGT>CGT		coagulation factor II receptor precursor	Streptokinase(DB00086)						148.0	116.0	127.0					5																	76029116		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76029116T>C	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1066T>C	5.37:g.76029116T>C	ENSP00000321326:p.Cys356Arg						p.C356R	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1331	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	356			Helical; Name=7; (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.1066T>C	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603342	0.66445	.	.	ENSG00000181104	ENST00000319211	T	0.72505	-0.66	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.105015	0.64402	D	0.000002	T	0.78502	0.4293	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79890	-0.1612	10	0.72032	D	0.01	-25.7707	9.9452	0.41604	0.1515:0.0:0.0:0.8485	.	356	P25116	PAR1_HUMAN	R	356	ENSP00000321326:C356R	ENSP00000321326:C356R	C	+	1	0	F2R	76064872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.655000	0.61476	2.095000	0.63458	0.459000	0.35465	TGT		PASS	0.493	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			87	86	87	86	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052867	90052867	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:90052867G>T	ENST00000405460.2	+	57	11925	c.11829G>T	c.(11827-11829)cgG>cgT	p.R3943R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3943	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R3943R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGTAGTCCGGCTGGCTGGAA	0.453																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11827-11829)CGG>CGT		G protein-coupled receptor 98 precursor							93.0	91.0	92.0					5																	90052867		1859	4101	5960	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052867G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11829G>T	5.37:g.90052867G>T						GPR98_uc003kjt.2_Silent_p.R1649R|GPR98_uc003kjv.2_Silent_p.R1543R	p.R3943R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	11925	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3943			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.11829G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049531	0.19827	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.3	1.29	0.21616	.	.	.	.	.	T	0.50922	0.1644	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36986	-0.9725	4	.	.	.	.	4.6022	0.12359	0.293:0.3201:0.3869:0.0	.	.	.	.	V	1509	.	.	G	+	2	0	GPR98	90088623	0.039000	0.19947	0.994000	0.49952	0.994000	0.84299	0.105000	0.15333	0.276000	0.22118	0.467000	0.42956	GGC		PASS	0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		36	49	36	49	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128365396	128365396	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:128365396T>G	ENST00000262462.4	+	9	2689	c.1679T>G	c.(1678-1680)aTt>aGt	p.I560S	SLC27A6_ENST00000506176.1_Missense_Mutation_p.I560S|SLC27A6_ENST00000395266.1_Missense_Mutation_p.I560S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	560					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.I560S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTTTAAGAATTCAGGTAATT	0.279																																						uc003kuy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)ATT>AGT		solute carrier family 27 (fatty acid							56.0	57.0	57.0					5																	128365396		2201	4299	6500	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128365396T>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1679T>G	5.37:g.128365396T>G	ENSP00000262462:p.Ile560Ser					SLC27A6_uc003kuz.2_Missense_Mutation_p.I560S	p.I560S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	10	2075	+		all_cancers(142;0.0483)|Prostate(80;0.055)	560					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1679T>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993065	0.74703	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.59772	0.24;0.24;0.24	4.53	4.53	0.55603	.	0.379656	0.29451	N	0.012115	T	0.80706	0.4674	H	0.95224	3.64	0.45172	D	0.998181	D	0.56287	0.975	P	0.60345	0.873	D	0.86923	0.2068	9	.	.	.	-2.9522	14.922	0.70847	0.0:0.0:0.0:1.0	.	560	Q9Y2P4	S27A6_HUMAN	S	560	ENSP00000262462:I560S;ENSP00000378684:I560S;ENSP00000421024:I560S	.	I	+	2	0	SLC27A6	128393295	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.378000	0.79679	2.257000	0.74773	0.454000	0.30748	ATT		PASS	0.279	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		41	38	41	38	---	---	---	---
C5orf56	441108	broad.mit.edu	37	5	131796410	131796410	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:131796410C>T	ENST00000337752.2	+	4	376	c.245C>T	c.(244-246)tCg>tTg	p.S82L	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	82								p.S82L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CCTTTTTCCTCGTCATCAACC	0.483																																						uc003kwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)TCG>TTG		hypothetical protein LOC441108							123.0	107.0	112.0					5																	131796410		2203	4300	6503	SO:0001583	missense	441108							g.chr5:131796410C>T	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.245C>T	5.37:g.131796410C>T	ENSP00000338228:p.Ser82Leu					C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron	p.S82L	NM_001013717	NP_001013739	Q8N8D9	CE056_HUMAN			4	376	+			82					A1L3V9|A6NKA0	Missense_Mutation	SNP	ENST00000337752.2	37	c.245C>T		.	.	.	.	.	.	.	.	.	.	C	6.887	0.533125	0.13188	.	.	ENSG00000197536	ENST00000337752	.	.	.	1.88	-3.26	0.05064	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.09310	N	1	P	0.42248	0.774	B	0.35813	0.211	T	0.10314	-1.0635	7	0.87932	D	0	.	0.2853	0.00250	0.1985:0.2762:0.1966:0.3288	.	82	Q8N8D9	CE056_HUMAN	L	82	.	ENSP00000338228:S82L	S	+	2	0	C5orf56	131824309	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-1.036000	0.03287	-1.412000	0.01120	TCG		PASS	0.483	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717		29	36	29	36	---	---	---	---
SIL1	64374	broad.mit.edu	37	5	138362594	138362594	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:138362594C>T	ENST00000394817.2	-	6	680	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SIL1_ENST00000265195.5_Missense_Mutation_p.D181N|SIL1_ENST00000509534.1_Missense_Mutation_p.D188N|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	181	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)	p.D181N(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATCTGCATGTCAGTCTCAATG	0.463									Marinesco-Sjgren syndrome																													uc003ldm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GAC>AAC		SIL1 protein precursor							135.0	121.0	126.0					5																	138362594		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sj_gren_syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138362594C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.541G>A	5.37:g.138362594C>T	ENSP00000378294:p.Asp181Asn					SIL1_uc003ldn.2_Missense_Mutation_p.D180N|SIL1_uc003ldo.2_Missense_Mutation_p.D181N|SIL1_uc003ldp.2_Missense_Mutation_p.D181N|SIL1_uc003ldq.1_Intron	p.D181N	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	558	-			181			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.541G>A	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569579	0.86439	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.54675	0.56;0.56;0.56	5.58	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.80183	2.485	0.48632	D	0.999688	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.74931	-0.3496	10	0.44086	T	0.13	-27.9823	14.4028	0.67060	0.0:0.9282:0.0:0.0717	.	188;181	D6REA1;Q9H173	.;SIL1_HUMAN	N	181;181;188	ENSP00000378294:D181N;ENSP00000265195:D181N;ENSP00000426858:D188N	ENSP00000265195:D181N	D	-	1	0	SIL1	138390493	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.612000	0.61169	1.369000	0.46134	-0.234000	0.12200	GAC		PASS	0.463	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		44	44	44	44	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140201816	140201816	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:140201816G>A	ENST00000529859.1	+	1	456	c.456G>A	c.(454-456)ccG>ccA	p.P152P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P152P|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P152P|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	152					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P152P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTTTCCGCTAGAGGGCG	0.413																																						uc003lhl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(454-456)CCG>CCA		protocadherin alpha 5 isoform 1 precursor							49.0	54.0	53.0					5																	140201816		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140201816G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.456G>A	5.37:g.140201816G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P152P|PCDHA5_uc003lhj.1_Silent_p.P152P	p.P152P	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	456	+			152			Extracellular (Potential).		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.456G>A	CCDS54917.1																																																																																				PASS	0.413	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		10	58	10	58	---	---	---	---
GABRP	2568	broad.mit.edu	37	5	170239249	170239249	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:170239249A>G	ENST00000518525.1	+	11	1774	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	GABRP_ENST00000265294.4_Missense_Mutation_p.Y437C|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	437					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y437C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	TGGGCATACTACATGTATTTT	0.348																																						uc003mau.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1309-1311)TAC>TGC		gamma-aminobutyric acid (GABA) A receptor, pi							116.0	107.0	110.0					5																	170239249		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170239249A>G	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1310A>G	5.37:g.170239249A>G	ENSP00000430100:p.Tyr437Cys					GABRP_uc011dev.1_3'UTR	p.Y437C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1508	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	437			Helical; (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.1310A>G	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154168	0.78114	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	D;D	0.84146	-1.81;-1.81	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91473	0.5198	10	0.87932	D	0	.	15.6906	0.77450	1.0:0.0:0.0:0.0	.	437	O00591	GBRP_HUMAN	C	437	ENSP00000430100:Y437C;ENSP00000265294:Y437C	ENSP00000265294:Y437C	Y	+	2	0	GABRP	170171827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.801000	0.85960	2.187000	0.69744	0.533000	0.62120	TAC		PASS	0.348	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		39	48	39	48	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176002375	176002375	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:176002375C>A	ENST00000510636.1	+	9	990	c.716C>A	c.(715-717)cCc>cAc	p.P239H	CDHR2_ENST00000506348.1_Missense_Mutation_p.P239H|CDHR2_ENST00000261944.5_Missense_Mutation_p.P239H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P239H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCTTGACCCCCAGTTTGTC	0.632																																						uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(715-717)CCC>CAC		protocadherin LKC precursor							92.0	85.0	88.0					5																	176002375		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176002375C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.716C>A	5.37:g.176002375C>A	ENSP00000424565:p.Pro239His					CDHR2_uc003men.1_Missense_Mutation_p.P239H	p.P239H	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			9	782	+			239			Extracellular (Potential).|Cadherin 2.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.716C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964983	0.74131	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	D;D;D	0.84873	-1.91;-1.91;-1.91	4.32	4.32	0.51571	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.95503	0.8539	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97225	0.9880	9	0.87932	D	0	-24.9944	14.7731	0.69693	0.0:1.0:0.0:0.0	.	239	Q9BYE9	CDHR2_HUMAN	H	239	ENSP00000424565:P239H;ENSP00000261944:P239H;ENSP00000421078:P239H	ENSP00000261944:P239H	P	+	2	0	CDHR2	175934981	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	5.156000	0.64905	2.238000	0.73509	0.478000	0.44815	CCC		PASS	0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		40	26	40	26	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180424256	180424256	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr5:180424256C>A	ENST00000342868.6	+	3	625	c.441C>A	c.(439-441)gaC>gaA	p.D147E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	147	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D147E(1)		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)			GATATGTTGACGGAGGTATCC	0.498																																						uc003mmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAC>GAA		butyrophilin-like 3 precursor							139.0	121.0	127.0					5																	180424256		2133	3964	6097	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424256C>A	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.441C>A	5.37:g.180424256C>A	ENSP00000341787:p.Asp147Glu						p.D147E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	569	+	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)	147			Ig-like V-type.|Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.441C>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190575	0.01607	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.40756	1.02	3.9	-1.83	0.07833	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44095	0.1277	L	0.45422	1.42	0.09310	N	1	D	0.63880	0.993	D	0.74023	0.982	T	0.32295	-0.9912	9	0.27785	T	0.31	.	1.0212	0.01518	0.1551:0.2999:0.1589:0.3862	.	147	Q6UXE8	BTNL3_HUMAN	E	147	ENSP00000341787:D147E	ENSP00000341787:D147E	D	+	3	2	BTNL3	180356862	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.681000	0.01937	-0.397000	0.07691	-0.512000	0.04463	GAC		PASS	0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		75	31	75	31	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13711172	13711172	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:13711172T>C	ENST00000011619.3	-	1	624	c.566A>G	c.(565-567)tAc>tGc	p.Y189C		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	189	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.Y189C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AGTACCTTTGTAGTGCACCCG	0.692																																						uc003nbb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(565-567)TAC>TGC		RAN binding protein 9							28.0	25.0	26.0					6																	13711172		2202	4300	6502	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711172T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.566A>G	6.37:g.13711172T>C	ENSP00000011619:p.Tyr189Cys						p.Y189C	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	625	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	189			B30.2/SPRY.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.566A>G	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581013	0.86748	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.60920	0.15	3.87	3.87	0.44632	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.129412	0.53938	D	0.000049	T	0.65964	0.2742	M	0.90705	3.14	0.80722	D	1	D	0.63046	0.992	P	0.54401	0.751	T	0.74757	-0.3557	10	0.87932	D	0	-0.0588	11.1956	0.48711	0.0:0.0:0.0:1.0	.	189	Q96S59	RANB9_HUMAN	C	189	ENSP00000011619:Y189C	ENSP00000011619:Y189C	Y	-	2	0	RANBP9	13819151	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.868000	0.75516	1.517000	0.48917	0.374000	0.22700	TAC		PASS	0.692	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			10	13	10	13	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496958	15496958	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:15496958G>A	ENST00000341776.2	+	7	1746	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R329Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R463Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	501					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R501Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGCCGAAGCGGGCCACGGCC	0.642																																						uc003nbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(1501-1503)CGG>CAG		jumonji, AT rich interactive domain 2 protein							31.0	38.0	36.0					6																	15496958		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496958G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1502G>A	6.37:g.15496958G>A	ENSP00000341280:p.Arg501Gln					JARID2_uc011diu.1_Missense_Mutation_p.R365Q|JARID2_uc011div.1_Missense_Mutation_p.R329Q|JARID2_uc011diw.1_Missense_Mutation_p.R463Q	p.R501Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1746	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	501					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1502G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411331	0.96072	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.91577	-2.15;-2.07;-2.87	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	L	0.34521	1.04	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.83275	0.996;0.996;0.788	D	0.91805	0.5455	10	0.48119	T	0.1	-13.1975	19.166	0.93557	0.0:0.0:1.0:0.0	.	463;365;501	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	Q	365;501;329;463	ENSP00000341280:R501Q;ENSP00000380478:R329Q;ENSP00000444623:R463Q	ENSP00000341280:R501Q	R	+	2	0	JARID2	15604937	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	8.734000	0.91543	2.523000	0.85059	0.561000	0.74099	CGG		PASS	0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		25	33	25	33	---	---	---	---
CUTA	51596	broad.mit.edu	37	6	33385345	33385345	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:33385345G>A	ENST00000488034.1	-	2	291	c.170C>T	c.(169-171)tCg>tTg	p.S57L	SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.S76L|CUTA_ENST00000607266.1_Missense_Mutation_p.S34L|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374496.3_Missense_Mutation_p.S34L|CUTA_ENST00000494751.1_Missense_Mutation_p.S34L|CUTA_ENST00000440279.3_Missense_Mutation_p.S34L|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000488478.1_Missense_Mutation_p.S57L	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	57					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)	p.S34L(1)	SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						GCCGGAATCCGAGGCCGGCGA	0.647																																						uc003oej.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)TCG>TTG		cutA divalent cation tolerance homolog isoform							66.0	77.0	73.0					6																	33385345		2203	4300	6503	SO:0001583	missense	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33385345G>A	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.170C>T	6.37:g.33385345G>A	ENSP00000417544:p.Ser57Leu					CUTA_uc003oek.1_Missense_Mutation_p.S34L|CUTA_uc003oel.1_Missense_Mutation_p.S34L|CUTA_uc003oem.1_Missense_Mutation_p.S34L|CUTA_uc003oen.1_Missense_Mutation_p.S76L|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank	p.S57L	NM_001014840	NP_001014840	O60888	CUTA_HUMAN			2	458	-			57					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.170C>T	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488872	0.44249	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000488478;ENST00000374496	.	.	.	5.24	3.44	0.39384	.	.	.	.	.	T	0.12902	0.0313	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.0	T	0.16453	-1.0402	8	0.52906	T	0.07	.	7.0531	0.25083	0.1967:0.0:0.8033:0.0	.	76;57	O60888-2;O60888	.;CUTA_HUMAN	L	76;34;57;34;57;34	.	ENSP00000363620:S34L	S	-	2	0	CUTA	33493323	0.018000	0.18449	0.046000	0.18839	0.520000	0.34377	1.970000	0.40520	1.515000	0.48885	0.655000	0.94253	TCG		PASS	0.647	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		45	150	45	150	---	---	---	---
SRPK1	6732	broad.mit.edu	37	6	35837429	35837429	+	Missense_Mutation	SNP	C	C	T	rs376417169		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:35837429C>T	ENST00000373825.2	-	11	1526	c.1241G>A	c.(1240-1242)tGt>tAt	p.C414Y	SRPK1_ENST00000423325.2_Missense_Mutation_p.C398Y|SRPK1_ENST00000373822.1_Missense_Mutation_p.C307Y					SRSF protein kinase 1									p.C414Y(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TATAGGTGTACAAGAGTCTGT	0.418																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1240-1242)TGT>TAT		SFRS protein kinase 1							177.0	166.0	170.0					6																	35837429		1985	4160	6145	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35837429C>T	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1241G>A	6.37:g.35837429C>T	ENSP00000362931:p.Cys414Tyr					SRPK1_uc011dtg.1_Missense_Mutation_p.C398Y|SRPK1_uc003olh.2_Missense_Mutation_p.C307Y|SRPK1_uc003oli.2_Missense_Mutation_p.C307Y	p.C414Y	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			11	1364	-			414			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1241G>A	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	9.627	1.135262	0.21123	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.28069	1.64;1.63;1.63;1.69	5.62	4.66	0.58398	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06096	0.0158	N	0.04203	-0.255	0.34988	D	0.754757	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09751	-1.0660	9	0.51188	T	0.08	0.0031	8.811	0.34967	0.1522:0.7641:0.0:0.0837	.	398;414	B4DS61;Q96SB4	.;SRPK1_HUMAN	Y	414;430;398;307	ENSP00000362931:C414Y;ENSP00000354674:C430Y;ENSP00000391069:C398Y;ENSP00000362928:C307Y	ENSP00000354674:C430Y	C	-	2	0	SRPK1	35945407	0.989000	0.36119	1.000000	0.80357	0.946000	0.59487	1.398000	0.34554	1.367000	0.46095	0.650000	0.86243	TGT		PASS	0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		9	79	9	79	---	---	---	---
BYSL	705	broad.mit.edu	37	6	41899507	41899507	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:41899507C>T	ENST00000230340.4	+	6	1282	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	303					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R303W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGTACCCTCCGGGAAGCCAT	0.552																																						uc003orl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CGG>TGG		bystin							145.0	124.0	131.0					6																	41899507		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41899507C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.907C>T	6.37:g.41899507C>T	ENSP00000230340:p.Arg303Trp						p.R303W	NM_004053	NP_004044	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	1243	+	Colorectal(47;0.121)		303					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.907C>T	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071953	0.76301	.	.	ENSG00000112578	ENST00000230340	T	0.53857	0.6	5.71	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86621	0.1879	10	0.87932	D	0	-15.529	15.4358	0.75146	0.1477:0.8523:0.0:0.0	.	303	Q13895	BYST_HUMAN	W	303	ENSP00000230340:R303W	ENSP00000230340:R303W	R	+	1	2	BYSL	42007485	0.957000	0.32711	1.000000	0.80357	0.975000	0.68041	2.086000	0.41643	1.380000	0.46344	0.549000	0.68633	CGG		PASS	0.552	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			29	159	29	159	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44221330	44221330	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:44221330G>A	ENST00000371554.1	+	12	2384	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D724N|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D724N			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	724					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.D724N(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAAGTCGATTAGGTTAG	0.557											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oxa.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)	4						c.(2170-2172)GAT>AAT		heat shock 90kDa protein 1, beta							66.0	69.0	68.0					6																	44221330		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221330G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2170G>A	6.37:g.44221330G>A	ENSP00000360609:p.Asp724Asn		OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	HSP90AB1_uc011dvr.1_Missense_Mutation_p.D714N|HSP90AB1_uc003oxb.1_Missense_Mutation_p.D724N|HSP90AB1_uc011dvs.1_Missense_Mutation_p.D544N|HSP90AB1_uc003oxc.1_Missense_Mutation_p.D362N	p.D724N	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	2254	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		724			TPR repeat-binding.		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.2170G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741231	0.89573	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.19806	2.12;2.12;2.12	3.91	3.91	0.45181	.	0.000000	0.64402	U	0.000001	T	0.49881	0.1583	H	0.94222	3.51	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.995	D;D;D	0.67900	0.924;0.954;0.924	T	0.67879	-0.5556	10	0.87932	D	0	.	16.4352	0.83873	0.0:0.0:1.0:0.0	.	686;714;724	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	N	724	ENSP00000360709:D724N;ENSP00000325875:D724N;ENSP00000360609:D724N	ENSP00000325875:D724N	D	+	1	0	HSP90AB1	44329308	1.000000	0.71417	0.988000	0.46212	0.746000	0.42486	9.605000	0.98321	2.188000	0.69820	0.609000	0.83330	GAT		PASS	0.557	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		29	63	29	63	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847001	47847001	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:47847001G>A	ENST00000339488.4	-	3	1612	c.1579C>T	c.(1579-1581)Cta>Tta	p.L527L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	527						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.L527L(1)									CAGTACTCTAGGGGCTCATAG	0.478																																						uc011dwm.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1528-1530)CTA>TTA		hypothetical protein LOC442213							55.0	49.0	51.0					6																	47847001		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847001G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1579C>T	6.37:g.47847001G>A						C6orf138_uc011dwn.1_Silent_p.L274L	p.L510L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1613	-			527					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1528C>T	CCDS34473.2																																																																																				PASS	0.478	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		13	20	13	20	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70098745	70098745	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:70098745C>A	ENST00000370598.1	+	32	5352	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M	BAI3_ENST00000546190.1_Missense_Mutation_p.L475M|BAI3_ENST00000238918.8_Missense_Mutation_p.L717M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1511					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1511M(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATTTGCCTCTGGATGTGCA	0.418																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4531-4533)CTG>ATG		brain-specific angiogenesis inhibitor 3							88.0	77.0	81.0					6																	70098745		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70098745C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4531C>A	6.37:g.70098745C>A	ENSP00000359630:p.Leu1511Met					BAI3_uc010kak.2_Missense_Mutation_p.L1511M|BAI3_uc011dxx.1_Missense_Mutation_p.L717M	p.L1511M	NM_001704	NP_001695	O60242	BAI3_HUMAN			32	4979	+		all_lung(197;0.212)	1511			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4531C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495560	0.44352	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.57273	1.48;2.1;0.41	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.70595	2.14	0.46113	D	0.998878	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.64351	-0.6428	10	0.72032	D	0.01	.	7.9583	0.30055	0.0:0.7069:0.0:0.2931	.	717;1511	B7Z356;O60242	.;BAI3_HUMAN	M	1511;717;475	ENSP00000359630:L1511M;ENSP00000238918:L717M;ENSP00000441821:L475M	ENSP00000238918:L717M	L	+	1	2	BAI3	70155466	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.767000	0.38501	1.535000	0.49220	0.655000	0.94253	CTG		PASS	0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			25	58	25	58	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70900022	70900022	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:70900022G>A	ENST00000322773.4	+	48	3133	c.3031G>A	c.(3031-3033)Gat>Aat	p.D1011N	COL19A1_ENST00000393344.1_Missense_Mutation_p.D633N	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1011	Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.D1011N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTCAGGCTGATGCAGTTTC	0.294																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3031-3033)GAT>AAT		alpha 1 type XIX collagen precursor							74.0	72.0	72.0					6																	70900022		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70900022G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3031G>A	6.37:g.70900022G>A	ENSP00000316030:p.Asp1011Asn						p.D1011N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			48	3148	+			1011			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3031G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380703	0.42207	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.96136	-3.92;-2.84	5.46	4.57	0.56435	.	0.081928	0.52532	D	0.000077	D	0.88844	0.6547	L	0.46614	1.455	0.38155	D	0.938849	B	0.24258	0.1	B	0.26094	0.066	D	0.84453	0.0589	10	0.17832	T	0.49	.	12.7421	0.57259	0.0805:0.0:0.9194:0.0	.	1011	Q14993	COJA1_HUMAN	N	1011;633;86	ENSP00000316030:D1011N;ENSP00000377013:D633N	ENSP00000316030:D1011N	D	+	1	0	COL19A1	70956743	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.358000	0.59442	2.721000	0.93114	0.655000	0.94253	GAT		PASS	0.294	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			25	87	25	87	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80715595	80715595	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:80715595C>G	ENST00000369798.2	+	2	146	c.35C>G	c.(34-36)aCa>aGa	p.T12R	TTK_ENST00000230510.3_Missense_Mutation_p.T12R|TTK_ENST00000509894.1_Missense_Mutation_p.T12R	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	12					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T12R(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGAGAATTGACAATTGATTCC	0.303																																						uc003pjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(34-36)ACA>AGA		TTK protein kinase							82.0	87.0	85.0					6																	80715595		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80715595C>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.35C>G	6.37:g.80715595C>G	ENSP00000358813:p.Thr12Arg					TTK_uc003pjb.3_Missense_Mutation_p.T12R	p.T12R	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	2	109	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	12					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.35C>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827016	0.32329	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	4.84	3.03	0.35002	.	0.179535	0.49305	D	0.000156	T	0.67344	0.2883	L	0.41236	1.265	0.26087	N	0.981016	B;B	0.14012	0.009;0.009	B;B	0.12156	0.005;0.007	T	0.55515	-0.8129	10	0.22706	T	0.39	.	5.9502	0.19242	0.1488:0.6886:0.0:0.1626	.	12;12	P33981;A8K8U5	TTK_HUMAN;.	R	12	ENSP00000422936:T12R;ENSP00000230510:T12R;ENSP00000358813:T12R;ENSP00000424851:T12R;ENSP00000421636:T12R;ENSP00000427483:T12R	ENSP00000230510:T12R	T	+	2	0	TTK	80772314	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.455000	0.35190	1.034000	0.39945	0.462000	0.41574	ACA		PASS	0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			23	96	23	96	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84930778	84930778	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:84930778C>T	ENST00000403245.3	-	3	283	c.169G>A	c.(169-171)Gat>Aat	p.D57N	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2												p.D57N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTACCATCATCTTTAAAA	0.308																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAT>AAT		KIAA1009 protein							197.0	185.0	189.0					6																	84930778		1817	4074	5891	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84930778C>T																												ENST00000403245.3:c.169G>A	6.37:g.84930778C>T	ENSP00000385215:p.Asp57Asn					KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Missense_Mutation_p.D57N	p.D57N	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	3	266	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	57						Missense_Mutation	SNP	ENST00000403245.3	37	c.169G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995479	0.19043	.	.	ENSG00000135315	ENST00000403245	T	0.21191	2.02	5.2	3.4	0.38934	.	.	.	.	.	T	0.04815	0.0130	L	0.29908	0.895	0.25130	N	0.990578	B;B	0.32160	0.078;0.358	B;B	0.28232	0.087;0.085	T	0.36962	-0.9726	9	0.18276	T	0.48	.	10.7017	0.45931	0.0:0.8481:0.0:0.1519	.	57;57	Q5TB80;C9JFM9	QN1_HUMAN;.	N	57	ENSP00000385215:D57N	ENSP00000385215:D57N	D	-	1	0	KIAA1009	84987497	1.000000	0.71417	0.443000	0.26883	0.935000	0.57460	2.212000	0.42835	0.676000	0.31285	0.557000	0.71058	GAT		PASS	0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			41	111	41	111	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88768510	88768510	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:88768510A>G	ENST00000237201.1	+	4	561	c.444A>G	c.(442-444)aaA>aaG	p.K148K		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	148					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.K148K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATCGTTTCAAATATATGTGGA	0.343																																						uc003pmn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)AAA>AAG		sperm acrosome associated 1 precursor							83.0	84.0	84.0					6																	88768510		2203	4300	6503	SO:0001819	synonymous_variant	81833					integral to membrane		g.chr6:88768510A>G	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.444A>G	6.37:g.88768510A>G							p.K148K	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	4	561	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	148			Extracellular (Potential).			Silent	SNP	ENST00000237201.1	37	c.444A>G	CCDS5014.1																																																																																				PASS	0.343	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			11	79	11	79	---	---	---	---
ANKRD6	22881	broad.mit.edu	37	6	90327746	90327746	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:90327746C>T	ENST00000522441.1	+	9	1429	c.788C>T	c.(787-789)cCc>cTc	p.P263L	ANKRD6_ENST00000485637.1_Missense_Mutation_p.P263L|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.P263L|ANKRD6_ENST00000369408.5_Missense_Mutation_p.P263L|ANKRD6_ENST00000447838.2_Missense_Mutation_p.P263L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	263					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P263L(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ACTAAAGCTCCCCAGGTAGGA	0.517																																						uc003pni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(787-789)CCC>CTC		ankyrin repeat domain 6							135.0	135.0	135.0					6																	90327746		1933	4126	6059	SO:0001583	missense	22881						protein binding	g.chr6:90327746C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.788C>T	6.37:g.90327746C>T	ENSP00000430985:p.Pro263Leu					ANKRD6_uc003pne.3_Missense_Mutation_p.P263L|ANKRD6_uc003pnf.3_Missense_Mutation_p.P263L|ANKRD6_uc011dzy.1_Missense_Mutation_p.P263L|ANKRD6_uc010kcd.2_Intron|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	p.P263L	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	9	1129	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	263			ANK 8.		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.788C>T	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973972	0.74246	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000485637	T;T;T;T;T	0.67865	1.1;0.95;0.94;0.95;-0.29	5.69	5.69	0.88448	.	0.132235	0.34828	N	0.003649	T	0.55097	0.1899	L	0.42529	1.33	0.80722	D	1	B;B;B	0.23442	0.005;0.007;0.085	B;B;B	0.31686	0.017;0.009;0.134	T	0.57579	-0.7787	10	0.72032	D	0.01	-23.0984	18.8122	0.92063	0.0:1.0:0.0:0.0	.	263;263;263	Q9Y2G4;Q9Y2G4-1;C9JJE8	ANKR6_HUMAN;.;.	L	263	ENSP00000358416:P263L;ENSP00000345767:P263L;ENSP00000396771:P263L;ENSP00000430985:P263L;ENSP00000430954:P263L	ENSP00000345767:P263L	P	+	2	0	ANKRD6	90384467	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.964000	0.63701	2.699000	0.92147	0.591000	0.81541	CCC		PASS	0.517	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			59	84	59	84	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128176300	128176300	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:128176300C>A	ENST00000368248.2	-	2	273	c.125G>T	c.(124-126)tGt>tTt	p.C42F	THEMIS_ENST00000543064.1_Missense_Mutation_p.C42F|THEMIS_ENST00000537166.1_Missense_Mutation_p.C7F|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	42	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C42F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTTGAAAAACAGCATTCATT	0.318																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(124-126)TGT>TTT		thymocyte selection pathway associated isoform							63.0	62.0	62.0					6																	128176300		2203	4299	6502	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176300C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.125G>T	6.37:g.128176300C>A	ENSP00000357231:p.Cys42Phe					THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Missense_Mutation_p.C42F|THEMIS_uc010kfb.2_Missense_Mutation_p.C7F	p.C42F	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			3	444	-			42			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.125G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867672	0.51588	.	.	ENSG00000172673	ENST00000543064;ENST00000368248;ENST00000537166	T;T;T	0.27256	2.56;2.56;1.68	5.73	3.79	0.43588	.	0.288098	0.34828	N	0.003650	T	0.38348	0.1037	M	0.73217	2.22	0.30373	N	0.78266	D;D	0.65815	0.995;0.989	P;D	0.63283	0.885;0.913	T	0.42932	-0.9422	10	0.87932	D	0	-8.8356	18.8341	0.92153	0.0:0.6435:0.3565:0.0	.	42;42	F5H1J9;Q8N1K5	.;THMS1_HUMAN	F	42;42;7	ENSP00000439594:C42F;ENSP00000357231:C42F;ENSP00000439863:C7F	ENSP00000357231:C42F	C	-	2	0	THEMIS	128217993	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	0.878000	0.28126	1.349000	0.45751	0.650000	0.86243	TGT		PASS	0.318	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		15	65	15	65	---	---	---	---
MTRF1L	54516	broad.mit.edu	37	6	153316325	153316325	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:153316325C>G	ENST00000367233.5	-	3	468	c.469G>C	c.(469-471)Gct>Cct	p.A157P	MTRF1L_ENST00000367230.1_Intron|MTRF1L_ENST00000367231.5_Missense_Mutation_p.A157P|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	157						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.A157P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TTAAATGCAGCATATTGCTGA	0.353																																						uc003qpi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GCT>CCT		mitochondrial translational release factor							37.0	35.0	36.0					6																	153316325		2203	4296	6499	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153316325C>G	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.469G>C	6.37:g.153316325C>G	ENSP00000356202:p.Ala157Pro					MTRF1L_uc003qpl.3_Missense_Mutation_p.A157P|MTRF1L_uc011efa.1_Intron|MTRF1L_uc003qpj.3_Missense_Mutation_p.A15P|MTRF1L_uc003qpk.3_Intron	p.A157P	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	3	574	-		Ovarian(120;0.125)	157					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.469G>C	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820821	0.71028	.	.	ENSG00000112031	ENST00000367233;ENST00000367231	T;T	0.20598	2.06;2.06	5.43	5.43	0.79202	Peptide chain release factor (2);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77294	-0.2641	10	0.87932	D	0	-6.237	19.2321	0.93843	0.0:1.0:0.0:0.0	.	157;157	Q9UGC7-2;Q9UGC7	.;RF1ML_HUMAN	P	157	ENSP00000356202:A157P;ENSP00000356200:A157P	ENSP00000356200:A157P	A	-	1	0	MTRF1L	153358018	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	4.628000	0.61282	2.551000	0.86045	0.585000	0.79938	GCT		PASS	0.353	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		18	40	18	40	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160412337	160412337	+	Missense_Mutation	SNP	C	C	G	rs199950272		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:160412337C>G	ENST00000356956.1	+	2	419	c.271C>G	c.(271-273)Cgc>Ggc	p.R91G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	91			R -> H (in dbSNP:rs8191704). {ECO:0000269|Ref.5}.		insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R91G(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTGAAGACACGCACTTATCA	0.378																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(271-273)CGC>GGC		insulin-like growth factor 2 receptor precursor							119.0	106.0	111.0					6																	160412337		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160412337C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.271C>G	6.37:g.160412337C>G	ENSP00000349437:p.Arg91Gly						p.R91G	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	2	419	+		Breast(66;0.000777)|Ovarian(120;0.0305)	91			1.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.271C>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.668725	0.00765	.	.	ENSG00000197081	ENST00000356956	T	0.30714	1.52	4.97	-9.94	0.00449	Mannose-6-phosphate receptor, binding (1);	2.532140	0.01204	N	0.007657	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	10	0.17832	T	0.49	-1.035	5.4855	0.16747	0.2157:0.1887:0.5044:0.0912	.	91	P11717	MPRI_HUMAN	G	91	ENSP00000349437:R91G	ENSP00000349437:R91G	R	+	1	0	IGF2R	160332327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-2.359000	0.00611	-0.839000	0.03059	CGC		PASS	0.378	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		43	86	43	86	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160999556	160999556	+	Splice_Site	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:160999556T>A	ENST00000316300.5	-	27	4514	c.4470A>T	c.(4468-4470)caA>caT	p.Q1490H	LPA_ENST00000447678.1_Splice_Site_p.Q1490H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3998	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1490H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTTCTTACCTTGTTCAGAAG	0.483																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4468-4470)CAA>CAT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						128.0	132.0	131.0					6																	160999556		1993	4196	6189	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999556T>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4471+1A>T	6.37:g.160999556T>A							p.Q1490H	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4590	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3998			Kringle 35.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4470A>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	12.71	2.020358	0.35606	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87334	-2.24;-2.24	2.37	2.37	0.29283	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.76941	0.4058	L	0.47716	1.5	0.80722	D	1	P	0.45531	0.86	P	0.48654	0.585	T	0.75025	-0.3463	9	0.41790	T	0.15	.	4.1337	0.10160	0.0:0.1773:0.0:0.8227	.	3998	P08519	APOA_HUMAN	H	1490	ENSP00000321334:Q1490H;ENSP00000395608:Q1490H	ENSP00000321334:Q1490H	Q	-	3	2	LPA	160919546	1.000000	0.71417	0.046000	0.18839	0.088000	0.18126	2.667000	0.46808	1.075000	0.40932	0.147000	0.16070	CAA		PASS	0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Missense_Mutation	29	149	29	149	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715563	165715563	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr6:165715563G>C	ENST00000230301.8	-	2	268	c.248C>G	c.(247-249)gCc>gGc	p.A83G	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	83								p.A83G(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGGCCGGTGGGCATTGGGCCA	0.637																																						uc003qum.3																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GCC>GGC		hypothetical protein LOC168090							82.0	92.0	89.0					6																	165715563		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715563G>C		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.248C>G	6.37:g.165715563G>C	ENSP00000230301:p.Ala83Gly					C6orf118_uc011egi.1_RNA	p.A83G	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	284	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	83					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.248C>G	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915347	0.52546	.	.	ENSG00000112539	ENST00000230301	T	0.17213	2.29	5.31	5.31	0.75309	.	0.249733	0.34291	N	0.004097	T	0.28732	0.0712	M	0.64404	1.975	0.80722	D	1	D	0.65815	0.995	D	0.64144	0.922	T	0.01280	-1.1397	10	0.59425	D	0.04	.	15.9335	0.79683	0.0:0.0:1.0:0.0	.	83	Q5T5N4	CF118_HUMAN	G	83	ENSP00000230301:A83G	ENSP00000230301:A83G	A	-	2	0	C6orf118	165635553	0.815000	0.29118	0.049000	0.19019	0.079000	0.17450	3.716000	0.54904	2.484000	0.83849	0.655000	0.94253	GCC		PASS	0.637	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		36	88	36	88	---	---	---	---
PRKAR1B	5575	broad.mit.edu	37	7	720311	720311	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:720311G>A	ENST00000406797.1	-	3	404	c.230C>T	c.(229-231)tCc>tTc	p.S77F	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.S77F|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.S77F|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.S77F|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.S77F	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	77	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.S77F(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTCATCATGGGAGTCCGACTG	0.602																																						uc003siu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)TCC>TTC		protein kinase, cAMP-dependent, regulatory, type							82.0	78.0	79.0					7																	720311		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720311G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.230C>T	7.37:g.720311G>A	ENSP00000385749:p.Ser77Phe					PRKAR1B_uc003siv.2_Missense_Mutation_p.S77F|PRKAR1B_uc003siw.1_Missense_Mutation_p.S77F	p.S77F	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	4	336	-		Ovarian(82;0.0779)	77			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.230C>T	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120037	0.56613	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.93488	-2.17;-2.17;-2.17;-2.17;-2.17;-3.18;-1.98;-3.23	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	D	0.92789	0.7707	M	0.72894	2.215	0.80722	D	1	B	0.26002	0.139	B	0.24974	0.057	D	0.91430	0.5165	10	0.54805	T	0.06	-18.8933	18.0789	0.89436	0.0:0.0:1.0:0.0	.	77	P31321	KAP1_HUMAN	F	77;77;77;77;77;77;22;77	ENSP00000440449:S77F;ENSP00000444487:S77F;ENSP00000385749:S77F;ENSP00000385349:S77F;ENSP00000353415:S77F;ENSP00000402648:S77F;ENSP00000394633:S22F;ENSP00000406670:S77F	ENSP00000353415:S77F	S	-	2	0	PRKAR1B	686837	1.000000	0.71417	0.675000	0.29917	0.742000	0.42306	5.849000	0.69465	2.271000	0.75665	0.561000	0.74099	TCC		PASS	0.602	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			22	109	22	109	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4009032	4009032	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:4009032G>A	ENST00000404826.2	+	11	1829	c.1690G>A	c.(1690-1692)Gca>Aca	p.A564T	SDK1_ENST00000389531.3_Missense_Mutation_p.A564T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	564	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A564T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCCTGAATGCATCGGCCAC	0.577																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1690-1692)GCA>ACA		sidekick 1 precursor							91.0	91.0	91.0					7																	4009032		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4009032G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1690G>A	7.37:g.4009032G>A	ENSP00000385899:p.Ala564Thr						p.A564T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1829	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	564			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1690G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126405	0.77549	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68624	-0.34;-0.34	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77425	0.4128	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76132	-0.3071	10	0.49607	T	0.09	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	564	Q7Z5N4	SDK1_HUMAN	T	564	ENSP00000385899:A564T;ENSP00000374182:A564T	ENSP00000374182:A564T	A	+	1	0	SDK1	3975558	1.000000	0.71417	0.193000	0.23327	0.113000	0.19764	9.374000	0.97172	2.826000	0.97356	0.655000	0.94253	GCA		PASS	0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		78	98	78	98	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4855864	4855864	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:4855864T>C	ENST00000399583.3	-	8	2148	c.1961A>G	c.(1960-1962)gAc>gGc	p.D654G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.D414G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	654	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.D654G(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCACCCCTGTCGAGGAGCTG	0.667																																						uc003snj.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1960-1962)GAC>GGC		Rap GTPase interactor							31.0	40.0	37.0					7																	4855864		2013	4149	6162	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4855864T>C	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1961A>G	7.37:g.4855864T>C	ENSP00000382492:p.Asp654Gly					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.D159G|RADIL_uc011jwc.1_Missense_Mutation_p.D414G|RADIL_uc011jwd.1_RNA	p.D654G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	2134	-		Ovarian(82;0.0175)	654			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1961A>G	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.032780	0.93575	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.07444	3.27;3.19	5.67	5.67	0.87782	Dilute (1);Dil domain (1);	0.159821	0.53938	D	0.000047	T	0.26231	0.0640	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00370	-1.1783	10	0.46703	T	0.11	-34.848	15.0855	0.72148	0.0:0.0:0.0:1.0	.	654	Q96JH8	RADIL_HUMAN	G	654;625;388;414	ENSP00000382492:D654G;ENSP00000442966:D414G	ENSP00000320946:D625G	D	-	2	0	RADIL	4822390	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	5.698000	0.68302	2.169000	0.68431	0.459000	0.35465	GAC		PASS	0.667	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		15	54	15	54	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901019	4901019	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:4901019C>T	ENST00000404991.1	-	1	606	c.420G>A	c.(418-420)caG>caA	p.Q140Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	140					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TCACTTCCTCCTGTAGTTTCA	0.413																																						uc003snk.2																			0				ovary(1)	1						c.(421-423)CAG>CAA		poly(A) polymerase beta (testis specific)							71.0	72.0	72.0					7																	4901019		2082	4257	6339	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901019C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.420G>A	7.37:g.4901019C>T						RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.Q141Q	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	607	-		Ovarian(82;0.0175)	140					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.423G>A																																																																																					PASS	0.413	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		28	40	28	40	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4917420	4917420	+	Silent	SNP	G	G	A	rs368805834	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:4917420G>A	ENST00000399583.3	-	2	538	c.351C>T	c.(349-351)ggC>ggT	p.G117G	RADIL_ENST00000536091.1_Silent_p.G117G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	117	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.G117G(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGCCGGCTTGGCCCACCACGT	0.672													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15544	0.0		0.0	False		,,,				2504	0.0					uc003snj.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(349-351)GGC>GGT		Rap GTPase interactor		G		9,4027		0,9,2009	41.0	48.0	45.0		351	4.0	1.0	7		45	0,8342		0,0,4171	no	coding-synonymous	RADIL	NM_018059.4		0,9,6180	AA,AG,GG		0.0,0.223,0.0727		117/1076	4917420	9,12369	2018	4171	6189	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917420G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.351C>T	7.37:g.4917420G>A						RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	p.G117G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	524	-		Ovarian(82;0.0175)	117			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.351C>T	CCDS43544.1																																																																																				PASS	0.672	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		37	68	37	68	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103206771	103206771	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:103206771G>A	ENST00000428762.1	-	33	4995	c.4836C>T	c.(4834-4836)ggC>ggT	p.G1612G	RELN_ENST00000343529.5_Silent_p.G1612G|RELN_ENST00000424685.2_Silent_p.G1612G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1612					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G1612G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATCTATAGAGCCATCAAATT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4834-4836)GGC>GGT		reelin isoform a							102.0	98.0	99.0					7																	103206771		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103206771G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4836C>T	7.37:g.103206771G>A						RELN_uc010liz.2_Silent_p.G1612G	p.G1612G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	4996	-			1612					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.4836C>T	CCDS47680.1																																																																																				PASS	0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		60	112	60	112	---	---	---	---
COPG2	26958	broad.mit.edu	37	7	130295938	130295938	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:130295938C>A	ENST00000445977.2	-	9	712	c.623G>T	c.(622-624)cGa>cTa	p.R208L				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	208					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)	p.R208L(1)		large_intestine(1)	1	Melanoma(18;0.0435)					AACAGCAAGTCGATCATTCTT	0.373																																						uc003vqh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)CGA>CTA		coatomer protein complex, subunit gamma 2							79.0	74.0	76.0					7																	130295938		1888	4131	6019	SO:0001583	missense	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130295938C>A	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.623G>T	7.37:g.130295938C>A	ENSP00000393912:p.Arg208Leu						p.R208L	NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN			9	713	-	Melanoma(18;0.0435)		208					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	ENST00000445977.2	37	c.623G>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.648220	0.87958	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	T;T	0.28069	1.63;1.63	5.31	5.31	0.75309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.60856	0.2301	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.65936	-0.6047	10	0.56958	D	0.05	-8.3999	17.566	0.87920	0.0:1.0:0.0:0.0	.	208	Q9UBF2	COPG2_HUMAN	L	208	ENSP00000393912:R208L;ENSP00000331218:R208L	ENSP00000331218:R208L	R	-	2	0	COPG2	129946475	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.776000	0.68924	2.498000	0.84270	0.561000	0.74099	CGA		PASS	0.373	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		9	66	9	66	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138943252	138943252	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:138943252G>T	ENST00000473989.3	+	4	682	c.682G>T	c.(682-684)Gct>Tct	p.A228S	UBN2_ENST00000288561.8_Missense_Mutation_p.A145S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	228						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A145S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTAGTTCCCGCTTCTCTAAC	0.353																																						uc011kqr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(682-684)GCT>TCT		ubinuclein 2							93.0	83.0	86.0					7																	138943252		1815	4078	5893	SO:0001583	missense	254048							g.chr7:138943252G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.682G>T	7.37:g.138943252G>T	ENSP00000418648:p.Ala228Ser					UBN2_uc003vuv.2_5'UTR	p.A228S	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			4	682	+			228					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.682G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753518	0.89753	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.35048	1.33;1.33	5.27	5.27	0.74061	.	0.053283	0.64402	D	0.000001	T	0.53077	0.1774	L	0.39633	1.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45425	-0.9262	10	0.38643	T	0.18	-12.4135	19.2541	0.93938	0.0:0.0:1.0:0.0	.	228	Q6ZU65	UBN2_HUMAN	S	51;228;145	ENSP00000418648:A228S;ENSP00000288561:A145S	ENSP00000288561:A145S	A	+	1	0	UBN2	138593792	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.713000	0.98740	2.628000	0.89032	0.460000	0.39030	GCT		PASS	0.353	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		32	102	32	102	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765165	141765165	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:141765165G>T	ENST00000549489.2	+	38	4610	c.4515G>T	c.(4513-4515)ggG>ggT	p.G1505G	MGAM_ENST00000475668.2_Silent_p.G1505G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1505	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G1505G(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACAGCGAGGGGTCGTCATCA	0.592																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(4513-4515)GGG>GGT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						46.0	51.0	49.0					7																	141765165		2047	4182	6229	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765165G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4515G>T	7.37:g.141765165G>T							p.G1505G	NM_004668	NP_004659	O43451	MGA_HUMAN			38	4569	+	Melanoma(164;0.0272)		1505			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4515G>T	CCDS47727.1																																																																																				PASS	0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	18	6	18	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747998	143747998	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:143747998C>T	ENST00000408906.2	+	1	538	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCTGCCCTTCTGTGGGCCCC	0.547																																						uc011ktw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(502-504)TTC>TTT		olfactory receptor, family 2, subfamily A,							186.0	191.0	189.0					7																	143747998		2065	4233	6298	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747998C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.504C>T	7.37:g.143747998C>T							p.F168F	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	504	+	Melanoma(164;0.0783)		168			Extracellular (Potential).		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.504C>T	CCDS43668.1																																																																																				PASS	0.547	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			96	254	96	254	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146825877	146825877	+	Silent	SNP	C	C	A	rs142122012		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:146825877C>A	ENST00000361727.3	+	7	1548	c.1032C>A	c.(1030-1032)ggC>ggA	p.G344G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	344	Laminin G-like 1. {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.G344G(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)			ACTACAATGGCGTCAACATTA	0.413										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1030-1032)GGC>GGA		cell recognition molecule Caspr2 precursor							114.0	116.0	116.0					7																	146825877		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:146825877C>A	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.1032C>A	7.37:g.146825877C>A		HNSCC(39;0.1)					p.G344G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1548	+	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)	344			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1032C>A	CCDS5889.1																																																																																				PASS	0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			89	183	89	183	---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150269805	150269805	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr7:150269805A>G	ENST00000255945.2	+	3	822	c.647A>G	c.(646-648)aAc>aGc	p.N216S	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.N230S	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	216	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.N216S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAGGGAGAACAAGGAAGGC	0.562																																						uc003whl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)AAC>AGC		GTPase, IMAP family member 4							95.0	91.0	93.0					7																	150269805		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269805A>G	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.647A>G	7.37:g.150269805A>G	ENSP00000255945:p.Asn216Ser					GIMAP4_uc011kuu.1_Missense_Mutation_p.N77S|GIMAP4_uc011kuv.1_Missense_Mutation_p.N230S	p.N216S	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	729	+			216			Potential.			Missense_Mutation	SNP	ENST00000255945.2	37	c.647A>G	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146390	0.57044	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.06608	3.28;3.28	4.82	3.69	0.42338	AIG1 (1);	0.100082	0.64402	D	0.000002	T	0.20901	0.0503	M	0.83852	2.665	0.09310	N	0.999999	D;D	0.63880	0.993;0.987	P;D	0.65573	0.84;0.936	T	0.05716	-1.0868	10	0.62326	D	0.03	.	6.1845	0.20490	0.8821:0.0:0.1179:0.0	.	230;216	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	S	216;230;148	ENSP00000255945:N216S;ENSP00000419545:N230S	ENSP00000255945:N216S	N	+	2	0	GIMAP4	149900738	0.926000	0.31397	0.003000	0.11579	0.002000	0.02628	5.023000	0.64084	0.907000	0.36646	0.533000	0.62120	AAC		PASS	0.562	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		45	112	45	112	---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27361174	27361174	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:27361174C>T	ENST00000521400.1	+	3	670	c.240C>T	c.(238-240)gtC>gtT	p.V80V	EPHX2_ENST00000518379.1_Silent_p.V80V|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.V14V|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Silent_p.V27V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	80	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.V80V(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)		CCGCTAAAGTCTGCCTCCCCA	0.483																																						uc003xfu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(238-240)GTC>GTT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						35.0	37.0	36.0					8																	27361174		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:27361174C>T	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.240C>T	8.37:g.27361174C>T						EPHX2_uc010lut.1_Silent_p.V80V|EPHX2_uc010luu.2_Silent_p.V80V|EPHX2_uc010luv.2_Silent_p.V14V|EPHX2_uc003xfv.2_Silent_p.V27V|EPHX2_uc010luw.2_Silent_p.V14V|EPHX2_uc011lam.1_5'Flank	p.V80V	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	321	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	80			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.240C>T	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.279163	0.01410	.	.	ENSG00000120915	ENST00000521684	.	.	.	5.4	3.58	0.41010	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.20472	-1.0274	4	.	.	.	-3.5659	7.0636	0.25139	0.1704:0.7418:0.0:0.0878	.	.	.	.	F	80	.	.	S	+	2	0	EPHX2	27417091	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.080000	0.14802	0.736000	0.32559	-0.145000	0.13849	TCT		PASS	0.483	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			11	24	11	24	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29006249	29006249	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:29006249C>A	ENST00000524189.1	-	16	1696	c.1658G>T	c.(1657-1659)cGa>cTa	p.R553L	KIF13B_ENST00000521515.1_Missense_Mutation_p.R553L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	553					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.R553L(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTCATCCTCTCGTTCTGCTTT	0.418																																						uc003xhh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1657-1659)CGA>CTA		kinesin family member 13B							174.0	166.0	169.0					8																	29006249		1925	4145	6070	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29006249C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1658G>T	8.37:g.29006249C>A	ENSP00000427900:p.Arg553Leu					KIF13B_uc003xhj.2_Missense_Mutation_p.R450L|KIF13B_uc010lvf.1_Missense_Mutation_p.R489L	p.R553L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	16	1717	-		Ovarian(32;0.000536)	553					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1658G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	5.855	0.341952	0.11069	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.74947	-0.89;-0.89	4.74	2.94	0.34122	.	0.456909	0.22575	N	0.058295	T	0.38081	0.1027	N	0.01874	-0.695	0.09310	N	0.999998	P;P;B	0.37176	0.465;0.586;0.025	B;B;B	0.30943	0.095;0.122;0.068	T	0.19224	-1.0312	10	0.30854	T	0.27	.	3.0917	0.06296	0.0:0.454:0.2166:0.3294	.	539;553;553	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	L	553	ENSP00000427900:R553L;ENSP00000429201:R553L	ENSP00000429201:R553L	R	-	2	0	KIF13B	29062168	0.024000	0.19004	0.089000	0.20774	0.384000	0.30261	1.597000	0.36729	1.355000	0.45865	0.561000	0.74099	CGA		PASS	0.418	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			77	75	77	75	---	---	---	---
WRN	7486	broad.mit.edu	37	8	31015036	31015036	+	Silent	SNP	C	C	G	rs370253199		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:31015036C>G	ENST00000298139.5	+	33	4221	c.3972C>G	c.(3970-3972)ccC>ccG	p.P1324P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1324					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.P1324P(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAACCCTCCCGTCAACTCAG	0.473			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3970-3972)CCC>CCG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein		C		0,4406		0,0,2203	56.0	50.0	52.0		3972	3.8	0.9	8		52	1,8599		0,1,4299	no	coding-synonymous	WRN	NM_000553.4		0,1,6502	GG,GC,CC		0.0116,0.0,0.0077		1324/1433	31015036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31015036C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3972C>G	8.37:g.31015036C>G						WRN_uc010lvk.2_Silent_p.P791P	p.P1324P	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	33	4760	+		Breast(100;0.195)	1324					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3972C>G	CCDS6082.1																																																																																				PASS	0.473	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			21	27	21	27	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35542150	35542150	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:35542150T>A	ENST00000404895.2	+	6	1130	c.802T>A	c.(802-804)Tgt>Agt	p.C268S	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.C268S|UNC5D_ENST00000453357.2_Missense_Mutation_p.C263S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	268	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.C263S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAATGTTCGCTGTGGTAGAGG	0.512																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(802-804)TGT>AGT		unc-5 homolog D precursor							160.0	146.0	150.0					8																	35542150		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35542150T>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.802T>A	8.37:g.35542150T>A	ENSP00000385143:p.Cys268Ser					UNC5D_uc003xjs.1_Missense_Mutation_p.C263S|UNC5D_uc003xjt.1_Missense_Mutation_p.C37S	p.C268S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	6	1130	+			268			TSP type-1 1.|Extracellular (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.802T>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738078	0.89573	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	D;D;D	0.96459	-4.02;-4.02;-4.02	5.2	5.2	0.72013	.	0.094335	0.85682	D	0.000000	D	0.98585	0.9527	H	0.95712	3.71	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.986	D;P;P	0.68039	0.955;0.898;0.842	D	0.99758	1.1020	10	0.87932	D	0	-12.8111	15.3934	0.74767	0.0:0.0:0.0:1.0	.	268;263;268	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	S	268;268;263	ENSP00000385143:C268S;ENSP00000412652:C268S;ENSP00000394303:C263S	ENSP00000385143:C268S	C	+	1	0	UNC5D	35661692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.108000	0.64289	0.533000	0.62120	TGT		PASS	0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			70	81	70	81	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39602390	39602390	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:39602390G>C	ENST00000265708.4	-	20	2300	c.2197C>G	c.(2197-2199)Cct>Gct	p.P733A	ADAM2_ENST00000521880.1_Missense_Mutation_p.P670A|ADAM2_ENST00000347580.4_Missense_Mutation_p.P714A|ADAM2_ENST00000379853.2_Missense_Mutation_p.P577A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	733					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.P733A(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)		TACCCTTTAGGTTCACTCTCA	0.323																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2197-2199)CCT>GCT		ADAM metallopeptidase domain 2 proprotein							81.0	89.0	86.0					8																	39602390		2203	4300	6503	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.chr8:39602390G>C	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.2197C>G	8.37:g.39602390G>C	ENSP00000265708:p.Pro733Ala					ADAM2_uc003xnk.2_Missense_Mutation_p.P714A|ADAM2_uc011lck.1_Missense_Mutation_p.P670A|ADAM2_uc003xnl.2_Missense_Mutation_p.P577A	p.P733A	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)	20	2272	-		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)	733			Cytoplasmic (Potential).		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.2197C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	3.662	-0.069310	0.07228	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01887	5.2;4.58;5.44;5.4	3.28	-6.55	0.01854	.	.	.	.	.	T	0.02342	0.0072	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.22909	0.063;0.077;0.048;0.028	B;B;B;B	0.21708	0.026;0.028;0.036;0.016	T	0.25222	-1.0138	9	0.44086	T	0.13	.	7.0012	0.24811	0.2503:0.0:0.1251:0.6246	.	670;577;714;733	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	A	714;577;733;670	ENSP00000343854:P714A;ENSP00000369182:P577A;ENSP00000265708:P733A;ENSP00000429352:P670A	ENSP00000265708:P733A	P	-	1	0	ADAM2	39721547	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.484000	0.00455	-2.887000	0.00316	-0.302000	0.09304	CCT		PASS	0.323	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		72	466	72	466	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87235224	87235224	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:87235224G>C	ENST00000297524.3	-	2	897	c.794C>G	c.(793-795)aCa>aGa	p.T265R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.T256R|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	265						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.T265R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTGGGTGTCAGAACAGT	0.393																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(793-795)ACA>AGA		solute carrier family 7, (cationic amino acid							140.0	143.0	142.0					8																	87235224		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87235224G>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.794C>G	8.37:g.87235224G>C	ENSP00000297524:p.Thr265Arg					SLC7A13_uc003ydr.1_Missense_Mutation_p.T256R	p.T265R	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			2	892	-			265			Extracellular (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.794C>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225361	0.22457	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90004	-2.6;-2.6	4.16	1.33	0.21861	Amino acid permease domain (1);	0.220196	0.31909	N	0.006868	D	0.93360	0.7883	M	0.89287	3.02	0.19300	N	0.999976	D;D	0.65815	0.991;0.995	D;D	0.75020	0.937;0.985	D	0.85621	0.1264	10	0.87932	D	0	.	5.8183	0.18514	0.1885:0.1593:0.6521:0.0	.	256;265	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	265;256	ENSP00000297524:T265R;ENSP00000410982:T256R	ENSP00000297524:T265R	T	-	2	0	SLC7A13	87304340	0.997000	0.39634	0.015000	0.15790	0.239000	0.25481	2.480000	0.45206	0.073000	0.16731	-0.142000	0.14014	ACA		PASS	0.393	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		35	76	35	76	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457007	110457007	+	Missense_Mutation	SNP	G	G	A	rs116863919	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:110457007G>A	ENST00000378402.5	+	38	5013	c.4909G>A	c.(4909-4911)Gtc>Atc	p.V1637I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1637	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V1639I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACTTTGACTGTCTACAACCT	0.423										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4909-4911)GTC>ATC		fibrocystin L precursor							233.0	232.0	232.0					8																	110457007		1945	4134	6079	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457007G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4909G>A	8.37:g.110457007G>A	ENSP00000367655:p.Val1637Ile	HNSCC(38;0.096)					p.V1637I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5013	+			1637			Extracellular (Potential).|IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4909G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067486	0.36470	.	.	ENSG00000205038	ENST00000378402	T	0.79845	-1.31	5.73	4.86	0.63082	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071812	0.53938	D	0.000043	T	0.80949	0.4722	L	0.60845	1.875	0.31213	N	0.698407	P	0.38677	0.642	P	0.44422	0.449	T	0.82866	-0.0245	10	0.51188	T	0.08	.	12.8299	0.57740	0.0791:0.0:0.9209:0.0	.	1637	Q86WI1	PKHL1_HUMAN	I	1637	ENSP00000367655:V1637I	ENSP00000367655:V1637I	V	+	1	0	PKHD1L1	110526183	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	4.849000	0.62882	1.561000	0.49584	-0.136000	0.14681	GTC		PASS	0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		38	344	38	344	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135524758	135524758	+	Silent	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:135524758C>A	ENST00000377838.3	-	14	3495	c.3321G>T	c.(3319-3321)gcG>gcT	p.A1107A	ZFAT_ENST00000520214.1_Silent_p.A1095A|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000523399.1_Silent_p.A1045A|ZFAT_ENST00000520727.1_Silent_p.A1095A|ZFAT_ENST00000429442.2_Silent_p.A1095A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1107					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A1107A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCGCGGCCACCGCTGCCTGTG	0.532																																						uc003yup.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(3319-3321)GCG>GCT		zinc finger protein 406 isoform ZFAT-1							161.0	172.0	168.0					8																	135524758		2034	4190	6224	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524758C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3321G>T	8.37:g.135524758C>A						ZFAT_uc011ljj.1_Silent_p.A226A|ZFAT_uc003yun.2_Silent_p.A1095A|ZFAT_uc003yuo.2_Silent_p.A1095A|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A1095A|ZFAT_uc010mej.2_Silent_p.A1045A	p.A1107A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3496	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1107					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.3321G>T	CCDS47924.1																																																																																				PASS	0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		65	339	65	339	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732380	144732380	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:144732380T>G	ENST00000501748.2	+	1	427	c.338T>G	c.(337-339)cTt>cGt	p.L113R	ZNF623_ENST00000526926.1_Missense_Mutation_p.L73R|ZNF623_ENST00000458270.2_Missense_Mutation_p.L73R	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L113R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCTTCTGCTTCAGAGAGAG	0.473																																						uc003yzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CTT>CGT		zinc finger protein 623 isoform 1							89.0	87.0	87.0					8																	144732380		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732380T>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.338T>G	8.37:g.144732380T>G	ENSP00000445979:p.Leu113Arg					ZNF623_uc011lkp.1_Missense_Mutation_p.L73R|ZNF623_uc003yzc.2_Missense_Mutation_p.L73R	p.L113R	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	427	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		113					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.338T>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	T	7.655	0.683678	0.14907	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.14766	2.48;2.48;2.48	4.35	1.81	0.25067	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	0.27617	N	0.948482	D	0.54772	0.968	P	0.53360	0.724	T	0.14008	-1.0488	9	0.72032	D	0.01	-17.9064	4.6271	0.12482	0.1713:0.1004:0.0:0.7283	.	113	O75123	ZN623_HUMAN	R	73;73;73;113;113	ENSP00000435232:L73R;ENSP00000411139:L73R;ENSP00000445979:L113R	ENSP00000330358:L73R	L	+	2	0	ZNF623	144803523	0.001000	0.12720	0.164000	0.22755	0.088000	0.18126	0.800000	0.27042	0.837000	0.34925	0.533000	0.62120	CTT		PASS	0.473	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		29	211	29	211	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144887289	144887289	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:144887289C>A	ENST00000320476.3	-	19	2669	c.2663G>T	c.(2662-2664)gGt>gTt	p.G888V	SCRIB_ENST00000377533.3_Missense_Mutation_p.G807V|SCRIB_ENST00000356994.2_Missense_Mutation_p.G888V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	888	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.G888V(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACCGCATCACCAGCCCTGTA	0.711																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2662-2664)GGT>GTT		scribble isoform b							9.0	11.0	10.0					8																	144887289		2112	4224	6336	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144887289C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2663G>T	8.37:g.144887289C>A	ENSP00000322938:p.Gly888Val					SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.G888V	p.G888V	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		19	2670	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		888			PDZ 2.|Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2663G>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969624	0.74246	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.40225	1.04;1.04;1.04	4.18	4.18	0.49190	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.64549	0.2608	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	T	0.70872	-0.4754	9	0.87932	D	0	.	15.5414	0.76052	0.0:1.0:0.0:0.0	.	888;888	Q14160;Q14160-3	SCRIB_HUMAN;.	V	888;888;807;257	ENSP00000349486:G888V;ENSP00000322938:G888V;ENSP00000366756:G807V	ENSP00000322938:G888V	G	-	2	0	SCRIB	144959277	0.821000	0.29204	0.588000	0.28705	0.328000	0.28507	1.856000	0.39389	1.876000	0.54355	0.442000	0.29010	GGT		PASS	0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		10	26	10	26	---	---	---	---
C8orf33	65265	broad.mit.edu	37	8	146278499	146278499	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr8:146278499G>A	ENST00000331434.6	+	3	484	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	124								p.G124S(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		ACTGGAGCTGGGCCTCAAGAG	0.572																																						uc003zfc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GGC>AGC		hypothetical protein LOC65265							83.0	84.0	83.0					8																	146278499		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278499G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.370G>A	8.37:g.146278499G>A	ENSP00000330361:p.Gly124Ser					C8orf33_uc003zfd.2_RNA	p.G124S	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	424	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		124					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.370G>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	14.28	2.488389	0.44249	.	.	ENSG00000182307	ENST00000331434	.	.	.	4.03	4.03	0.46877	.	0.381500	0.28589	N	0.014818	T	0.65365	0.2684	L	0.39397	1.21	0.46149	D	0.998894	D	0.89917	1.0	D	0.91635	0.999	T	0.63301	-0.6668	8	.	.	.	-18.2356	12.0306	0.53396	0.0:0.0:1.0:0.0	.	124	Q9H7E9	CH033_HUMAN	S	124	.	.	G	+	1	0	C8orf33	146249303	1.000000	0.71417	0.156000	0.22583	0.018000	0.09664	3.909000	0.56363	1.975000	0.57531	0.655000	0.94253	GGC		PASS	0.572	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		22	84	22	84	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35752037	35752037	+	5'Flank	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr9:35752037C>T	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Missense_Mutation_p.H323Y|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.H283Y|GBA2_ENST00000545786.1_5'Flank|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.H323Y(1)|p.H283Y(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTGTGTCACATGTGACTCA	0.587																																						uc011lpf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(847-849)CAT>TAT		RGP1 retrograde golgi transport homolog							86.0	90.0	89.0					9																	35752037		2089	4213	6302	SO:0001631	upstream_gene_variant	9827							g.chr9:35752037C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35752037C>T	Exception_encountered					GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.H323Y	p.H283Y	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	988	+	all_epithelial(49;0.167)		283					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.847C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	5.445	0.267243	0.10294	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.95	5.95	0.96441	.	0.162600	0.52532	D	0.000068	T	0.28699	0.0711	N	0.19112	0.55	0.32868	D	0.508847	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.20306	-1.0279	9	0.02654	T	1	-12.7613	12.5601	0.56275	0.0:0.9169:0.0:0.0831	.	283;283	Q92546;A8K0K1	RGP1_HUMAN;.	Y	323;283	.	ENSP00000367318:H283Y	H	+	1	0	RGP1	35742037	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	5.131000	0.64751	2.826000	0.97356	0.491000	0.48974	CAT		PASS	0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	19	19	19	---	---	---	---
PGM5	5239	broad.mit.edu	37	9	71094442	71094442	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr9:71094442C>T	ENST00000396396.1	+	8	1497	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	423					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.A423V(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCACTGGGCCAAATTTGGC	0.527																																						uc004agr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1267-1269)GCC>GTC		phosphoglucomutase 5							67.0	73.0	71.0					9																	71094442		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71094442C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1268C>T	9.37:g.71094442C>T	ENSP00000379678:p.Ala423Val						p.A423V	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1497	+			423					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1268C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458734	0.63401	.	.	ENSG00000154330	ENST00000396396	T	0.64438	-0.1	5.3	4.39	0.52855	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.104808	0.64402	D	0.000004	T	0.75982	0.3924	H	0.94886	3.595	0.54753	D	0.999984	B	0.26318	0.146	B	0.36092	0.217	T	0.78311	-0.2253	10	0.54805	T	0.06	.	14.4582	0.67431	0.1488:0.8512:0.0:0.0	.	423	Q15124	PGM5_HUMAN	V	423	ENSP00000379678:A423V	ENSP00000379678:A423V	A	+	2	0	PGM5	70284262	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.918000	0.40006	1.342000	0.45619	0.563000	0.77884	GCC		PASS	0.527	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		44	72	44	72	---	---	---	---
NAA35	60560	broad.mit.edu	37	9	88633621	88633621	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr9:88633621C>G	ENST00000361671.5	+	21	2055	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	641					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.S641C(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TAGGAAATGTCTGACCTCAAT	0.328																																						uc004aoi.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1921-1923)TCT>TGT		corneal wound healing-related protein							112.0	116.0	115.0					9																	88633621		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88633621C>G	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1922C>G	9.37:g.88633621C>G	ENSP00000354972:p.Ser641Cys					NAA35_uc004aoj.3_Missense_Mutation_p.S641C	p.S641C	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			21	2059	+			641					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1922C>G	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358710	0.82243	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	L	0.38175	1.15	0.80722	D	1	D	0.69078	0.997	P	0.59825	0.864	T	0.67086	-0.5759	9	0.54805	T	0.06	-15.3089	19.3871	0.94563	0.0:1.0:0.0:0.0	.	641	Q5VZE5	NAA35_HUMAN	C	641	.	ENSP00000354972:S641C	S	+	2	0	NAA35	87823441	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.945000	0.70226	2.594000	0.87642	0.491000	0.48974	TCT		PASS	0.328	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		46	158	46	158	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15648376	15648376	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:15648376A>C	ENST00000378076.3	-	18	2163	c.1810T>G	c.(1810-1812)Ttg>Gtg	p.L604V	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	604					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.L604V(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						CTGTAATTCAAACTAATGTTG	0.363																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1810-1812)TTG>GTG		integrin, alpha 8 precursor							97.0	94.0	95.0					10																	15648376		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.chr10:15648376A>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1810T>G	10.37:g.15648376A>C	ENSP00000367316:p.Leu604Val					ITGA8_uc010qcb.1_Missense_Mutation_p.L589V	p.L604V	NM_003638	NP_003629	P53708	ITA8_HUMAN			18	1810	-			604			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1810T>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231947	0.58777	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50001	0.76	5.36	-1.05	0.10036	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.57536	1.79	0.46298	D	0.998978	D;D	0.89917	0.999;1.0	D;D	0.70716	0.949;0.97	T	0.50816	-0.8783	10	0.28530	T	0.3	.	9.8395	0.40991	0.6293:0.0:0.3707:0.0	.	589;604	F5H818;P53708	.;ITA8_HUMAN	V	604;589	ENSP00000367316:L604V	ENSP00000367316:L604V	L	-	1	2	ITGA8	15688382	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	2.611000	0.46334	-0.170000	0.10816	0.529000	0.55759	TTG		PASS	0.363	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		34	68	34	68	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25886839	25886839	+	Missense_Mutation	SNP	C	C	A	rs542611999		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:25886839C>A	ENST00000376351.3	+	11	2643	c.2284C>A	c.(2284-2286)Cca>Aca	p.P762T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	762					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P762T(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACGGAGATCCCAGAGACAGT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		16764	0.001		0.0	False		,,,				2504	0.0					uc001isj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2284-2286)CCA>ACA		G protein-coupled receptor 158 precursor							97.0	108.0	105.0					10																	25886839		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886839C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2284C>A	10.37:g.25886839C>A	ENSP00000365529:p.Pro762Thr					GPR158_uc001isk.2_Missense_Mutation_p.P137T	p.P762T	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2344	+			762			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2284C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075086	0.94000	.	.	ENSG00000151025	ENST00000376351	T	0.70516	-0.49	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.84790	0.5550	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85855	0.1406	10	0.72032	D	0.01	.	19.4771	0.94994	0.0:1.0:0.0:0.0	.	762	Q5T848	GP158_HUMAN	T	762	ENSP00000365529:P762T	ENSP00000365529:P762T	P	+	1	0	GPR158	25926845	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.487000	0.81328	2.606000	0.88127	0.650000	0.86243	CCA		PASS	0.547	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		89	115	89	115	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43090054	43090054	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:43090054G>A	ENST00000359467.3	-	5	458	c.344C>T	c.(343-345)aCt>aTt	p.T115I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T115I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTGTTCCTTAGTCAGCATTTC	0.368																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)ACT>ATT		zinc finger protein 33B							96.0	95.0	95.0					10																	43090054		2203	4299	6502	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43090054G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.344C>T	10.37:g.43090054G>A	ENSP00000352444:p.Thr115Ile					ZNF33B_uc009xmg.1_Missense_Mutation_p.T115I|ZNF33B_uc001jae.1_RNA|ZNF33B_uc001jag.1_Missense_Mutation_p.T3I|ZNF33B_uc001jad.2_RNA	p.T115I	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	459	-			115					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.344C>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.613198	0.00835	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.06068	3.35	2.14	-2.59	0.06209	.	0.666578	0.12419	N	0.470625	T	0.03136	0.0092	L	0.28608	0.87	0.09310	N	1	B;B	0.34103	0.437;0.031	B;B	0.30029	0.11;0.014	T	0.39165	-0.9627	10	0.27082	T	0.32	.	0.8451	0.01159	0.2563:0.3431:0.2275:0.1731	.	115;115	Q3B799;Q06732	.;ZN33B_HUMAN	I	115;81	ENSP00000352444:T115I	ENSP00000352444:T115I	T	-	2	0	ZNF33B	42410060	0.003000	0.15002	0.010000	0.14722	0.262000	0.26303	0.187000	0.16998	-0.721000	0.04929	-0.786000	0.03341	ACT		PASS	0.368	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		45	88	45	88	---	---	---	---
TMEM72	643236	broad.mit.edu	37	10	45430567	45430567	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:45430567C>T	ENST00000544540.1	+	4	943	c.459C>T	c.(457-459)gcC>gcT	p.A153A	TMEM72-AS1_ENST00000450287.2_RNA|RP11-285G1.9_ENST00000425541.2_lincRNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	271						integral component of membrane (GO:0016021)		p.A271A(4)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CTCTTACAGCCACCGGCCTGT	0.602																																						uc001jbn.2																			4	Substitution - coding silent(4)		lung(4)		0						c.(811-813)GCC>GCT		transmembrane protein 72							55.0	54.0	55.0					10																	45430567		1568	3582	5150	SO:0001819	synonymous_variant	643236					integral to membrane		g.chr10:45430567C>T	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.459C>T	10.37:g.45430567C>T						uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.A153A	p.A271A	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	1010	+			271					A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37	c.813C>T																																																																																					PASS	0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		18	37	18	37	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732520	50732520	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:50732520C>G	ENST00000355832.5	-	5	1034	c.956G>C	c.(955-957)aGa>aCa	p.R319T	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R319T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R319T|PGBD3_ENST00000374127.3_5'Flank|PGBD3_ENST00000603152.1_Missense_Mutation_p.R319T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	319					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R319T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGACAGAACTCTGGCTTTCTT	0.463								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(955-957)AGA>ACA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							150.0	147.0	148.0					10																	50732520		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732520C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.956G>C	10.37:g.50732520C>G	ENSP00000348089:p.Arg319Thr					PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Missense_Mutation_p.R319T|PGBD3_uc001jhu.2_Missense_Mutation_p.R319T	p.R319T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			5	1110	-			319					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.956G>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095444	0.36952	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.82433	-1.61;3.41;3.41	5.73	-6.26	0.02033	.	.	.	.	.	T	0.59891	0.2227	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.46925	-0.9156	9	0.22109	T	0.4	1.0177	7.9468	0.29991	0.0:0.386:0.2223:0.3917	.	319;319	E7EV46;Q03468	.;ERCC6_HUMAN	T	319	ENSP00000348089:R319T;ENSP00000423550:R319T;ENSP00000387966:R319T	ENSP00000348089:R319T	R	-	2	0	ERCC6;RP11-123B3.6	50402526	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.028000	0.12350	-0.643000	0.05473	-0.238000	0.12139	AGA		PASS	0.463	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		40	186	40	186	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074381	54074381	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:54074381G>T	ENST00000373970.3	+	1	326	c.187G>T	c.(187-189)Gcg>Tcg	p.A63S	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	63					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.A63S(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AGTCAGCGCCGCGCCGGGAAT	0.622											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(187-189)GCG>TCG		dickkopf homolog 1 precursor							26.0	31.0	29.0					10																	54074381		2199	4296	6495	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074381G>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.187G>T	10.37:g.54074381G>T	ENSP00000363081:p.Ala63Ser		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.A63S	NM_012242	NP_036374	O94907	DKK1_HUMAN			1	341	+			63					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.187G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765070	0.15914	.	.	ENSG00000107984	ENST00000373970	T	0.41400	1.0	4.49	3.57	0.40892	.	0.450054	0.23336	N	0.049282	T	0.21387	0.0515	N	0.17082	0.46	0.26707	N	0.971048	B	0.30763	0.294	B	0.26969	0.075	T	0.16719	-1.0393	10	0.09843	T	0.71	-8.7331	9.047	0.36352	0.1061:0.0:0.8939:0.0	.	63	O94907	DKK1_HUMAN	S	63	ENSP00000363081:A63S	ENSP00000363081:A63S	A	+	1	0	DKK1	53744387	0.440000	0.25618	0.359000	0.25824	0.862000	0.49288	2.678000	0.46900	0.983000	0.38602	0.655000	0.94253	GCG		PASS	0.622	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			9	56	9	56	---	---	---	---
ADO	84890	broad.mit.edu	37	10	64565180	64565180	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:64565180C>T	ENST00000373783.1	+	1	665	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	121						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)	p.L121F(1)		lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCACGGCATGCTCAAGGTGCT	0.672																																						uc001jmg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CTC>TTC		2-aminoethanethiol (cysteamine) dioxygenase							13.0	9.0	10.0					10																	64565180		2092	4092	6184	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565180C>T	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.361C>T	10.37:g.64565180C>T	ENSP00000362888:p.Leu121Phe						p.L121F	NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN			1	665	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		121					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.361C>T	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814611	0.90790	.	.	ENSG00000181915	ENST00000373783	T	0.45276	0.9	5.07	5.07	0.68467	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000001	T	0.68118	0.2966	M	0.86740	2.835	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.68674	-0.5346	10	0.25751	T	0.34	-25.3192	17.2706	0.87101	0.0:1.0:0.0:0.0	.	121	Q96SZ5	AEDO_HUMAN	F	121	ENSP00000362888:L121F	ENSP00000362888:L121F	L	+	1	0	ADO	64235186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.158000	0.50723	2.356000	0.79943	0.650000	0.86243	CTC		PASS	0.672	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		6	7	6	7	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686994	68686994	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:68686994G>T	ENST00000361320.4	+	2	898	c.320G>T	c.(319-321)gGa>gTa	p.G107V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	107					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G107V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTTTTAATGGAATACGCAGA	0.363																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(319-321)GGA>GTA		leucine rich repeat transmembrane neuronal 3							99.0	103.0	102.0					10																	68686994		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686994G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.320G>T	10.37:g.68686994G>T	ENSP00000355187:p.Gly107Val					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G107V	p.G107V	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	870	+			107			Extracellular (Potential).|LRR 2.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.320G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003806	0.54254	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.62941	-0.01	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000007	T	0.77130	0.4085	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78234	-0.2283	10	0.62326	D	0.03	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	107;107	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	V	107	ENSP00000355187:G107V	ENSP00000355187:G107V	G	+	2	0	LRRTM3	68357000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.543000	0.85770	0.655000	0.94253	GGA		PASS	0.363	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		96	141	96	141	---	---	---	---
GHITM	27069	broad.mit.edu	37	10	85901279	85901279	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:85901279G>T	ENST00000372134.3	+	2	216	c.23G>T	c.(22-24)tGt>tTt	p.C8F	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	8					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.C8F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						AGGCTGGTGTGTCTCCGGACA	0.468																																						uc001kcs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TGT>TTT		growth hormone inducible transmembrane protein							92.0	91.0	91.0					10																	85901279		1912	4134	6046	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901279G>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.23G>T	10.37:g.85901279G>T	ENSP00000361207:p.Cys8Phe					GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	p.C8F	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			2	227	+			8					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.23G>T	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686595	0.88639	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	5.95	5.95	0.96441	.	0.084537	0.85682	D	0.000000	T	0.78528	0.4297	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78352	-0.2237	9	0.66056	D	0.02	-25.0815	19.1739	0.93594	0.0:0.0:1.0:0.0	.	8	Q9H3K2	GHITM_HUMAN	F	8	.	ENSP00000342214:C8F	C	+	2	0	GHITM	85891259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.382000	0.90154	2.827000	0.97445	0.650000	0.86243	TGT		PASS	0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		32	115	32	115	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96602608	96602608	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:96602608G>C	ENST00000371321.3	+	7	1058	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	326					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.E326Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGTCCAGGAAGAGATTGAACG	0.483																																						uc010qnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(976-978)GAG>CAG		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						146.0	132.0	137.0					10																	96602608		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96602608G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.976G>C	10.37:g.96602608G>C	ENSP00000360372:p.Glu326Gln					CYP2C19_uc010qny.1_Missense_Mutation_p.E304Q	p.E326Q	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	7	976	+		Colorectal(252;0.09)	326					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.976G>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165027	0.57476	.	.	ENSG00000165841	ENST00000371321	T	0.46063	0.88	3.37	3.37	0.38596	.	0.000000	0.64402	U	0.000002	T	0.68476	0.3005	M	0.89968	3.075	0.37859	D	0.929653	D	0.89917	1.0	D	0.97110	1.0	T	0.78856	-0.2039	10	0.87932	D	0	.	12.64	0.56705	0.0:0.0:1.0:0.0	.	326	P33261	CP2CJ_HUMAN	Q	326	ENSP00000360372:E326Q	ENSP00000360372:E326Q	E	+	1	0	CYP2C19	96592598	1.000000	0.71417	0.969000	0.41365	0.435000	0.31806	9.027000	0.93706	1.590000	0.49995	0.505000	0.49811	GAG		PASS	0.483	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		56	98	56	98	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103898671	103898671	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:103898671A>G	ENST00000278070.2	+	4	564	c.525A>G	c.(523-525)ccA>ccG	p.P175P	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Silent_p.P175P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P175P(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGACACCCCCAGAACGTGACC	0.542																																						uc001kum.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(523-525)CCA>CCG		peroxisome proliferator-activated receptor							77.0	77.0	77.0					10																	103898671		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898671A>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.525A>G	10.37:g.103898671A>G						PPRC1_uc001kun.2_Silent_p.P55P|PPRC1_uc010qqj.1_Silent_p.P175P|PPRC1_uc009xxa.2_5'Flank	p.P175P	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	564	+		Colorectal(252;0.122)	175					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.525A>G	CCDS7529.1																																																																																				PASS	0.542	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		17	65	17	65	---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104404661	104404661	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:104404661G>A	ENST00000302424.7	+	1	409	c.287G>A	c.(286-288)cGc>cAc	p.R96H	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	96					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|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)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R96H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTGTTCTGCCGCCGCGGCCCC	0.701																																						uc001kvz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)CGC>CAC		tripartite motif-containing 8							7.0	11.0	10.0					10																	104404661		2124	4213	6337	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404661G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.287G>A	10.37:g.104404661G>A	ENSP00000302120:p.Arg96His						p.R96H	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	410	+		Colorectal(252;0.122)	96			B box-type 1.		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.287G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293456	0.80914	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.78707	-1.2	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85032	0.0918	10	0.59425	D	0.04	.	16.8455	0.85979	0.0:0.0:1.0:0.0	.	96	Q9BZR9	TRIM8_HUMAN	H	96	ENSP00000302120:R96H	ENSP00000302120:R96H	R	+	2	0	TRIM8	104394651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.631000	0.83237	2.277000	0.76020	0.561000	0.74099	CGC		PASS	0.701	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		3	2	3	2	---	---	---	---
C10orf120	399814	broad.mit.edu	37	10	124457280	124457280	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr10:124457280C>A	ENST00000329446.4	-	3	1008	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	326								p.R326L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTACGCATGCGCTCTTTCCA	0.438																																						uc001lgn.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(976-978)CGC>CTC		hypothetical protein LOC399814							103.0	98.0	100.0					10																	124457280		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457280C>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.977G>T	10.37:g.124457280C>A	ENSP00000331012:p.Arg326Leu						p.R326L	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	1009	-		all_neural(114;0.169)|Glioma(114;0.222)	326					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.977G>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	C	3.172	-0.169820	0.06461	.	.	ENSG00000183559	ENST00000329446	T	0.30714	1.52	4.3	-5.16	0.02857	.	2.061260	0.01996	N	0.045897	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11251	-1.0595	10	0.14252	T	0.57	2.17	2.8668	0.05604	0.1388:0.4487:0.1415:0.2709	.	326	Q5SQS8	CJ120_HUMAN	L	326	ENSP00000331012:R326L	ENSP00000331012:R326L	R	-	2	0	C10orf120	124447270	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-0.897000	0.03910	-1.292000	0.01352	CGC		PASS	0.438	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		49	102	49	102	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4968319	4968319	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:4968319G>T	ENST00000380373.2	-	1	37	c.12C>A	c.(10-12)atC>atA	p.I4I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I4I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGATGTGTTGATAATGGACA	0.383																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(10-12)ATC>ATA		olfactory receptor, family 51, subfamily A,							40.0	34.0	36.0					11																	4968319		2077	4229	6306	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968319G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.12C>A	11.37:g.4968319G>T							p.I4I	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	12	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	4			Extracellular (Potential).			Silent	SNP	ENST00000380373.2	37	c.12C>A	CCDS31367.1																																																																																				PASS	0.383	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		37	39	37	39	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153430	5153430	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:5153430A>C	ENST00000307388.1	-	1	442	c.443T>G	c.(442-444)cTt>cGt	p.L148R		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	148					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.L148R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCACCCCAAGTCCAATATG	0.473																																						uc010qyx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(442-444)CTT>CGT		olfactory receptor, family 52, subfamily A,							75.0	70.0	71.0					11																	5153430		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153430A>C	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.443T>G	11.37:g.5153430A>C	ENSP00000303469:p.Leu148Arg						p.L148R	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	443	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	148			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.443T>G	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	A	7.556	0.663688	0.14710	.	.	ENSG00000171944	ENST00000307388	T	0.42513	0.97	5.22	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.329573	0.21898	N	0.067488	T	0.51058	0.1652	M	0.89534	3.04	0.09310	N	1	B	0.31705	0.336	B	0.37480	0.251	T	0.55250	-0.8170	10	0.62326	D	0.03	.	6.2017	0.20579	0.7504:0.1621:0.0875:0.0	.	148	Q9H2C5	O52A5_HUMAN	R	148	ENSP00000303469:L148R	ENSP00000303469:L148R	L	-	2	0	OR52A5	5110006	0.065000	0.20965	0.852000	0.33557	0.162000	0.22319	1.274000	0.33132	1.012000	0.39366	0.533000	0.62120	CTT		PASS	0.473	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		12	60	12	60	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023986	6023986	+	Silent	SNP	G	G	C	rs569446273		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:6023986G>C	ENST00000330728.4	-	1	438	c.393C>G	c.(391-393)acC>acG	p.T131T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T131T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGATGACGGTGAGGCAGA	0.572																																						uc010qzv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(391-393)ACC>ACG		olfactory receptor, family 56, subfamily A,							80.0	76.0	77.0					11																	6023986		2201	4294	6495	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023986G>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.393C>G	11.37:g.6023986G>C							p.T131T	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	393	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	79			Extracellular (Potential).		B9EH17	Silent	SNP	ENST00000330728.4	37	c.393C>G	CCDS31404.1																																																																																				PASS	0.572	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		34	46	34	46	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8751741	8751741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:8751741C>A	ENST00000534127.1	-	6	1481	c.1096G>T	c.(1096-1098)Gga>Tga	p.G366*	ST5_ENST00000357665.1_Nonsense_Mutation_p.G366*|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Nonsense_Mutation_p.G366*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	366	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.G366*(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)		GGGCTATTTCCAGGGGTCCCG	0.652																																						uc001mgt.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1096-1098)GGA>TGA		suppression of tumorigenicity 5 isoform 1							76.0	81.0	79.0					11																	8751741		2201	4296	6497	SO:0001587	stop_gained	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751741C>A	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.1096G>T	11.37:g.8751741C>A	ENSP00000433528:p.Gly366*					ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Nonsense_Mutation_p.G366*|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Nonsense_Mutation_p.G366*	p.G366*	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	1282	-			366			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	ENST00000534127.1	37	c.1096G>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814914	0.70912	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	.	.	.	6.17	3.02	0.34903	.	0.524059	0.20217	N	0.096773	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.3049	4.6525	0.12601	0.1169:0.5918:0.1272:0.1641	.	.	.	.	X	366	.	ENSP00000319678:G366X	G	-	1	0	ST5	8708317	0.988000	0.35896	0.995000	0.50966	0.529000	0.34654	2.740000	0.47418	0.875000	0.35847	0.655000	0.94253	GGA		PASS	0.652	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		44	56	44	56	---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28080680	28080680	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:28080680T>C	ENST00000263181.6	-	13	2031	c.1741A>G	c.(1741-1743)Aga>Gga	p.R581G	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	581					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R581G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TATTGTTTTCTTAGGGTTGGA	0.328																																						uc001msc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1741-1743)AGA>GGA		kinesin family member 18A							97.0	103.0	101.0					11																	28080680		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28080680T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1741A>G	11.37:g.28080680T>C	ENSP00000263181:p.Arg581Gly						p.R581G	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			13	1923	-			581					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1741A>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387365	0.42308	.	.	ENSG00000121621	ENST00000263181	T	0.74315	-0.83	5.61	5.61	0.85477	.	0.140250	0.64402	D	0.000007	T	0.71290	0.3322	M	0.70275	2.135	0.40070	D	0.976008	P	0.44429	0.835	B	0.38056	0.264	T	0.76416	-0.2967	10	0.56958	D	0.05	.	11.8115	0.52185	0.0:0.0:0.2589:0.741	.	581	Q8NI77	KI18A_HUMAN	G	581	ENSP00000263181:R581G	ENSP00000263181:R581G	R	-	1	2	KIF18A	28037256	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	1.908000	0.39907	2.139000	0.66308	0.477000	0.44152	AGA		PASS	0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		92	185	92	185	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033239	30033239	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:30033239C>A	ENST00000328224.6	-	2	2220	c.987G>T	c.(985-987)ttG>ttT	p.L329F	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	329					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L329F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TAAACTCAGGCAAGGTTTCCA	0.512																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(985-987)TTG>TTT		potassium voltage-gated channel, shaker-related							87.0	79.0	81.0					11																	30033239		2041	4213	6254	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033239C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.987G>T	11.37:g.30033239C>A	ENSP00000328511:p.Leu329Phe						p.L329F	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2139	-			329						Missense_Mutation	SNP	ENST00000328224.6	37	c.987G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146939	0.57151	.	.	ENSG00000182255	ENST00000328224	T	0.61627	0.09	5.16	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.63663	0.2530	M	0.85542	2.76	0.80722	D	1	D	0.54772	0.968	P	0.46076	0.503	T	0.69533	-0.5120	10	0.87932	D	0	.	9.3383	0.38065	0.0:0.7753:0.0:0.2247	.	329	P22459	KCNA4_HUMAN	F	329	ENSP00000328511:L329F	ENSP00000328511:L329F	L	-	3	2	KCNA4	29989815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.249000	0.43169	1.178000	0.42870	0.655000	0.94253	TTG		PASS	0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		63	129	63	129	---	---	---	---
C1QTNF4	114900	broad.mit.edu	37	11	47612180	47612180	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:47612180G>T	ENST00000302514.3	-	2	699	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	61	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)		p.F61L(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGGCCACATCGAAGTCGCCCC	0.672																																						uc001ngc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)TTC>TTA		C1q and tumor necrosis factor related protein 4							22.0	21.0	22.0					11																	47612180		2198	4294	6492	SO:0001583	missense	114900					extracellular region		g.chr11:47612180G>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.183C>A	11.37:g.47612180G>T	ENSP00000302274:p.Phe61Leu						p.F61L	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN			2	450	-			61			C1q 1.		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	c.183C>A	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490945	0.64074	.	.	ENSG00000172247	ENST00000302514;ENST00000530097	T;D	0.88431	1.63;-2.38	4.33	3.39	0.38822	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	U	0.000000	D	0.92378	0.7581	M	0.84156	2.68	0.47094	D	0.999312	D	0.55800	0.973	P	0.59115	0.852	D	0.92463	0.5979	10	0.87932	D	0	.	8.6209	0.33859	0.1972:0.0:0.8028:0.0	.	61	Q9BXJ3	C1QT4_HUMAN	L	61	ENSP00000302274:F61L;ENSP00000434548:F61L	ENSP00000302274:F61L	F	-	3	2	C1QTNF4	47568756	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	2.556000	0.45862	2.140000	0.66376	0.455000	0.32223	TTC		PASS	0.672	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		8	19	8	19	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412301	51412301	+	Missense_Mutation	SNP	G	G	T	rs150350902	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:51412301G>T	ENST00000319760.6	-	1	147	c.95C>A	c.(94-96)aCa>aAa	p.T32K		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T32K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CACCAAGTATGTGAGTAAAAA	0.433																																						uc001nhi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(94-96)ACA>AAA		olfactory receptor, family 4, subfamily A,							54.0	51.0	52.0					11																	51412301		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412301G>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.95C>A	11.37:g.51412301G>T	ENSP00000367664:p.Thr32Lys						p.T32K	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	95	-		all_lung(304;0.236)	32			Helical; Name=1; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.95C>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.345	-0.350280	0.05173	.	.	ENSG00000221840	ENST00000319760	T	0.00433	7.43	2.01	0.855	0.19013	.	0.134540	0.33110	N	0.005278	T	0.00328	0.0010	L	0.46157	1.445	0.09310	N	1	B	0.29716	0.255	B	0.34652	0.187	T	0.44787	-0.9305	10	0.87932	D	0	.	5.1857	0.15184	0.8286:0.0:0.1714:0.0	.	32	Q8NH83	OR4A5_HUMAN	K	32	ENSP00000367664:T32K	ENSP00000367664:T32K	T	-	2	0	OR4A5	51268877	0.000000	0.05858	0.100000	0.21137	0.021000	0.10359	0.743000	0.26231	0.237000	0.21200	0.162000	0.16502	ACA		PASS	0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		16	56	16	56	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135858	55135858	+	Silent	SNP	C	C	A	rs539516996	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:55135858C>A	ENST00000314706.3	+	1	499	c.499C>A	c.(499-501)Cga>Aga	p.R167R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167R(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CATGAATCGTCGAGTCTGTGT	0.438																																						uc010rif.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(499-501)CGA>AGA		olfactory receptor, family 4, subfamily A,							232.0	210.0	217.0					11																	55135858		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135858C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.499C>A	11.37:g.55135858C>A							p.R167R	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	499	+			167			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.499C>A	CCDS31500.1																																																																																				PASS	0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		77	241	77	241	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541616	55541616	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:55541616G>T	ENST00000361760.1	+	1	703	c.703G>T	c.(703-705)Ggg>Tgg	p.G235W		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G235W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATCTGCAAGTGGGCGCCAGAA	0.408																																						uc010ril.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(703-705)GGG>TGG		olfactory receptor, family 5, subfamily D,							134.0	119.0	124.0					11																	55541616		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541616G>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.703G>T	11.37:g.55541616G>T	ENSP00000354800:p.Gly235Trp						p.G235W	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	703	+		all_epithelial(135;0.196)	235			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.703G>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557366	0.45590	.	.	ENSG00000198877	ENST00000361760	T	0.00304	8.19	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34580	U	0.003845	T	0.01254	0.0041	H	0.97806	4.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13282	-1.0515	10	0.87932	D	0	-7.5712	14.7088	0.69211	0.0:0.0:1.0:0.0	.	235	Q8NGL4	OR5DD_HUMAN	W	235	ENSP00000354800:G235W	ENSP00000354800:G235W	G	+	1	0	OR5D13	55298192	0.413000	0.25400	0.019000	0.16419	0.028000	0.11728	0.953000	0.29162	1.886000	0.54624	0.486000	0.48141	GGG		PASS	0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		53	82	53	82	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890035	55890035	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:55890035T>G	ENST00000313472.3	+	1	187	c.187T>G	c.(187-189)Ttc>Gtc	p.F63V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATGTATTTTTTCCTTACTCA	0.423																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(187-189)TTC>GTC		olfactory receptor, family 8, subfamily H,							244.0	248.0	247.0					11																	55890035		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890035T>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.187T>G	11.37:g.55890035T>G	ENSP00000323928:p.Phe63Val						p.F63V	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	187	+	Esophageal squamous(21;0.00693)		63			Helical; Name=2; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.187T>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693605	0.30052	.	.	ENSG00000181761	ENST00000313472	T	0.14391	2.51	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.47600	0.1454	H	0.97516	4.02	0.32726	N	0.509673	D	0.89917	1.0	D	0.91635	0.999	T	0.65829	-0.6073	10	0.87932	D	0	.	7.3433	0.26650	0.0:0.1038:0.0:0.8962	.	63	Q8N146	OR8H3_HUMAN	V	63	ENSP00000323928:F63V	ENSP00000323928:F63V	F	+	1	0	OR8H3	55646611	0.134000	0.22483	0.997000	0.53966	0.111000	0.19643	0.377000	0.20552	1.325000	0.45301	0.145000	0.16022	TTC		PASS	0.423	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		36	459	36	459	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310580	56310580	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:56310580C>A	ENST00000528616.2	-	1	177	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGGCGAGAGTCCAGTCTCATT	0.468																																						uc010rjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GAC>TAC		olfactory receptor, family 5, subfamily M,							154.0	154.0	154.0					11																	56310580		2168	4280	6448	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310580C>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.154G>T	11.37:g.56310580C>A	ENSP00000432417:p.Asp52Tyr						p.D52Y	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	154	-			52			Cytoplasmic (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.154G>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983668	0.18889	.	.	ENSG00000255223	ENST00000528616	T	0.02974	4.09	5.1	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11580	0.0282	H	0.96430	3.82	0.09310	N	1	P	0.37985	0.613	B	0.42188	0.379	T	0.05386	-1.0888	9	0.87932	D	0	.	7.739	0.28831	0.0:0.6718:0.0:0.3282	.	52	Q96RB7	OR5MB_HUMAN	Y	52	ENSP00000432417:D52Y	ENSP00000432417:D52Y	D	-	1	0	OR5M11	56067156	0.000000	0.05858	0.695000	0.30226	0.061000	0.15899	-0.087000	0.11215	0.362000	0.24319	-0.162000	0.13425	GAC		PASS	0.468	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		54	149	54	149	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409179	56409179	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:56409179G>T	ENST00000302981.1	-	1	736	c.737C>A	c.(736-738)aCc>aAc	p.T246N	OR5AP2_ENST00000544374.1_Missense_Mutation_p.T247N	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T246N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGAGGCACAGGTGGAGAAGGC	0.468																																						uc001njb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(736-738)ACC>AAC		olfactory receptor, family 5, subfamily AP,							145.0	126.0	132.0					11																	56409179		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409179G>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.737C>A	11.37:g.56409179G>T	ENSP00000303111:p.Thr246Asn						p.T246N	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	737	-			246			Helical; Name=6; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.737C>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815733	0.70912	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.40476	1.03;1.03	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.145914	0.32459	N	0.006070	T	0.76335	0.3973	H	0.97874	4.095	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.84219	0.0460	10	0.87932	D	0	.	13.0247	0.58808	0.0792:0.0:0.9208:0.0	.	246	Q8NGF4	O5AP2_HUMAN	N	247;246	ENSP00000442701:T247N;ENSP00000303111:T246N	ENSP00000303111:T246N	T	-	2	0	OR5AP2	56165755	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	8.868000	0.92320	2.665000	0.90641	0.637000	0.83480	ACC		PASS	0.468	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		40	122	40	122	---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971013	57971013	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:57971013A>G	ENST00000302592.6	-	1	640	c.641T>C	c.(640-642)aTt>aCt	p.I214T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I214T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TAAACCCACAATAAACAACAC	0.448																																						uc010rkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)ATT>ACT		olfactory receptor, family 1, subfamily S,							204.0	180.0	188.0					11																	57971013		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971013A>G	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.641T>C	11.37:g.57971013A>G	ENSP00000305469:p.Ile214Thr						p.I214T	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	641	-		Breast(21;0.0589)	214			Helical; Name=5; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.641T>C	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	A	0.159	-1.083331	0.01888	.	.	ENSG00000197887	ENST00000302592	T	0.00137	8.68	4.75	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	1.499090	0.04474	N	0.376550	T	0.00109	0.0003	N	0.04768	-0.165	0.09310	N	1	P	0.45634	0.863	B	0.43990	0.438	T	0.19257	-1.0311	10	0.19147	T	0.46	.	5.1179	0.14845	0.6079:0.1449:0.2472:0.0	.	214	Q8NGQ3	OR1S2_HUMAN	T	214	ENSP00000305469:I214T	ENSP00000305469:I214T	I	-	2	0	OR1S2	57727589	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	0.406000	0.21032	0.091000	0.17302	0.533000	0.62120	ATT		PASS	0.448	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		30	77	30	77	---	---	---	---
OR5A2	219981	broad.mit.edu	37	11	59190101	59190101	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:59190101C>A	ENST00000302040.4	-	1	348	c.326G>T	c.(325-327)gGg>gTg	p.G109V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G109V(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTCAGTCAGCCCCATCCCACA	0.498																																						uc010rkt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GGG>GTG		olfactory receptor, family 5, subfamily A,							73.0	69.0	71.0					11																	59190101		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190101C>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.326G>T	11.37:g.59190101C>A	ENSP00000303834:p.Gly109Val						p.G109V	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	326	-			109			Helical; Name=3; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.326G>T	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874462	0.17395	.	.	ENSG00000172324	ENST00000302040	T	0.01359	4.98	5.47	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35708	U	0.003022	T	0.04182	0.0116	L	0.54908	1.71	0.49213	D	0.999768	D	0.89917	1.0	D	0.97110	1.0	T	0.55354	-0.8154	10	0.07990	T	0.79	.	9.178	0.37123	0.1455:0.7764:0.0:0.0781	.	109	Q8NGI9	OR5A2_HUMAN	V	109	ENSP00000303834:G109V	ENSP00000303834:G109V	G	-	2	0	OR5A2	58946677	0.000000	0.05858	0.631000	0.29282	0.983000	0.72400	-0.517000	0.06275	0.767000	0.33267	0.585000	0.79938	GGG		PASS	0.498	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		37	48	37	48	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68204451	68204451	+	Silent	SNP	C	C	T	rs199576767		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:68204451C>T	ENST00000294304.7	+	19	4201	c.4095C>T	c.(4093-4095)tcC>tcT	p.S1365S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1365	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S1365S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGACGGCTCCGACGAGCTCA	0.627																																						uc001ont.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(4093-4095)TCC>TCT		low density lipoprotein receptor-related protein		C		0,4400		0,0,2200	146.0	108.0	121.0		4095	-5.2	0.8	11		121	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	LRP5	NM_002335.2		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		1365/1616	68204451	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68204451C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4095C>T	11.37:g.68204451C>T						LRP5_uc009ysg.2_Silent_p.S775S	p.S1365S	NM_002335	NP_002326	O75197	LRP5_HUMAN			19	4170	+			1365			LDL-receptor class A 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.4095C>T	CCDS8181.1																																																																																				PASS	0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		12	84	12	84	---	---	---	---
KRTAP5-8	57830	broad.mit.edu	37	11	71249616	71249616	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:71249616G>T	ENST00000398534.3	+	1	546	c.515G>T	c.(514-516)tGt>tTt	p.C172F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	172	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C172F(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AAGCCCTGCTGTTCCCAGTCC	0.587																																						uc001oqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)TGT>TTT		keratin associated protein 5-8							138.0	148.0	145.0					11																	71249616		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249616G>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.515G>T	11.37:g.71249616G>T	ENSP00000420723:p.Cys172Phe						p.C172F	NM_021046	NP_066384	O75690	KRA58_HUMAN			1	546	+			172			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.515G>T	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	10.98	1.503742	0.26949	.	.	ENSG00000241233	ENST00000398534	T	0.02015	4.5	1.67	0.73	0.18271	.	.	.	.	.	T	0.12050	0.0293	H	0.95884	3.735	0.09310	N	0.999998	D	0.59767	0.986	P	0.53722	0.733	T	0.05903	-1.0857	9	0.87932	D	0	.	7.9132	0.29803	0.0:0.2594:0.7406:0.0	.	172	O75690	KRA58_HUMAN	F	172	ENSP00000420723:C172F	ENSP00000420723:C172F	C	+	2	0	KRTAP5-8	70927264	0.965000	0.33210	0.809000	0.32408	0.473000	0.32948	1.771000	0.38542	0.268000	0.21939	-0.121000	0.15023	TGT		PASS	0.587	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		72	144	72	144	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92257851	92257851	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:92257851G>C	ENST00000298047.6	+	2	3361	c.3344G>C	c.(3343-3345)tGg>tCg	p.W1115S	FAT3_ENST00000525166.1_Missense_Mutation_p.W965S|FAT3_ENST00000409404.2_Missense_Mutation_p.W1115S|FAT3_ENST00000541502.1_Missense_Mutation_p.W1115S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1115	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W1115S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTCATACTGGCTAACAGTG	0.483										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3343-3345)TGG>TCG		FAT tumor suppressor homolog 3							85.0	82.0	83.0					11																	92257851		2011	4181	6192	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92257851G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3344G>C	11.37:g.92257851G>C	ENSP00000298047:p.Trp1115Ser	TCGA Ovarian(4;0.039)					p.W1115S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			2	3361	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1115			Cadherin 10.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3344G>C		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669597	0.88348	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.47528	5.17;5.17;0.84;5.17	5.78	5.78	0.91487	.	.	.	.	.	T	0.54351	0.1853	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53795	-0.8388	9	0.31617	T	0.26	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	1115	Q8TDW7-3	.	S	1115;1115;1115;965	ENSP00000298047:W1115S;ENSP00000387040:W1115S;ENSP00000443786:W1115S;ENSP00000432586:W965S	ENSP00000298047:W1115S	W	+	2	0	FAT3	91897499	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.787000	0.99055	2.742000	0.94016	0.650000	0.86243	TGG		PASS	0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	67	8	67	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92715453	92715453	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:92715453T>A	ENST00000257068.2	+	2	1070	c.1064T>A	c.(1063-1065)gTg>gAg	p.V355E		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.V355E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ATCATTGGTGTGCAGCACCAG	0.582																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1063-1065)GTG>GAG		melatonin receptor 1B	Ramelteon(DB00980)						42.0	45.0	44.0					11																	92715453		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715453T>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1064T>A	11.37:g.92715453T>A	ENSP00000257068:p.Val355Glu						p.V355E	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1167	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	355			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.1064T>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	T	2.122	-0.401147	0.04865	.	.	ENSG00000134640	ENST00000257068	T	0.73047	-0.71	4.14	-2.86	0.05717	.	0.556400	0.17252	N	0.181102	T	0.36138	0.0956	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.17992	-1.0351	10	0.13108	T	0.6	-4.0327	0.6389	0.00807	0.3295:0.3152:0.1357:0.2196	.	355	P49286	MTR1B_HUMAN	E	355	ENSP00000257068:V355E	ENSP00000257068:V355E	V	+	2	0	MTNR1B	92355101	0.000000	0.05858	0.000000	0.03702	0.467000	0.32768	-0.059000	0.11731	-0.339000	0.08401	0.260000	0.18958	GTG		PASS	0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			22	45	22	45	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93529669	93529669	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:93529669A>G	ENST00000251871.3	+	7	1393	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C	snoU13_ENST00000459243.1_RNA|MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	369					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Y369C(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACCACCTTTATGTCCTAGAG	0.393																																						uc001pem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1105-1107)TAT>TGT		mediator complex subunit 17							158.0	152.0	154.0					11																	93529669		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529669A>G	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1106A>G	11.37:g.93529669A>G	ENSP00000251871:p.Tyr369Cys						p.Y369C	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			7	1381	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	369					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1106A>G	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653522	0.88056	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.55052	0.54	6.06	6.06	0.98353	.	0.052428	0.85682	D	0.000000	T	0.68229	0.2978	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69083	-0.5239	10	0.56958	D	0.05	-22.4426	16.6093	0.84858	1.0:0.0:0.0:0.0	.	369	Q9NVC6	MED17_HUMAN	C	369;339	ENSP00000251871:Y369C	ENSP00000251871:Y369C	Y	+	2	0	MED17	93169317	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.251000	0.95483	2.324000	0.78689	0.533000	0.62120	TAT		PASS	0.393	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		40	154	40	154	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113102895	113102895	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:113102895C>G	ENST00000533760.1	+	10	1459	c.860C>G	c.(859-861)gCc>gGc	p.A287G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A414G|NCAM1_ENST00000316851.7_Missense_Mutation_p.A405G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	415	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.A414G(2)|p.A405G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTGCAGATGCCCCAAAGCTA	0.532																																						uc009yyq.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(967-969)GCC>GGC		neural cell adhesion molecule 1 isoform 3							44.0	45.0	44.0					11																	113102895		1917	4142	6059	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102895C>G		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.860C>G	11.37:g.113102895C>G	ENSP00000473281:p.Ala287Gly						p.A323G	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1662	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	415			Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.968C>G		.	.	.	.	.	.	.	.	.	.	C	19.83	3.899436	0.72754	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.73469	-0.75;-0.75	5.51	5.51	0.81932	Immunoglobulin-like fold (1);	0.066163	0.64402	U	0.000012	D	0.82504	0.5051	.	.	.	0.80722	D	1	P;D;P;D	0.57899	0.954;0.981;0.943;0.969	P;P;P;P	0.53146	0.719;0.719;0.527;0.719	D	0.83986	0.0335	9	0.66056	D	0.02	-9.1324	19.7829	0.96424	0.0:1.0:0.0:0.0	.	415;405;415;405	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	G	287;414;405	ENSP00000384055:A414G;ENSP00000318472:A405G	ENSP00000318472:A405G	A	+	2	0	NCAM1	112608105	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	5.691000	0.68249	2.758000	0.94735	0.460000	0.39030	GCC		PASS	0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	29	11	29	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	113934218	113934218	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:113934218A>G	ENST00000335953.4	+	2	576	c.196A>G	c.(196-198)Aat>Gat	p.N66D	ZBTB16_ENST00000392996.2_Missense_Mutation_p.N66D	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N66D(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTTCCACCGCAATAGTCAACA	0.542																																						uc001pop.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(196-198)AAT>GAT		promyelocytic leukemia zinc finger protein							104.0	84.0	91.0					11																	113934218		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934218A>G	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.196A>G	11.37:g.113934218A>G	ENSP00000338157:p.Asn66Asp					ZBTB16_uc001poo.1_Missense_Mutation_p.N66D|ZBTB16_uc001poq.2_Missense_Mutation_p.N66D	p.N66D	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	460	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	66			BTB.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.196A>G	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771628	0.31320	.	.	ENSG00000109906	ENST00000335953;ENST00000544220;ENST00000535700;ENST00000392996;ENST00000310883	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.32	5.32	0.75619	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.088624	0.85682	D	0.000000	T	0.22666	0.0547	L	0.48362	1.52	0.42866	D	0.994121	B;B	0.19706	0.038;0.004	B;B	0.18561	0.022;0.005	T	0.02721	-1.1119	10	0.62326	D	0.03	.	15.5817	0.76448	1.0:0.0:0.0:0.0	.	66;71	Q05516;Q59H43	ZBT16_HUMAN;.	D	66	ENSP00000338157:N66D;ENSP00000437716:N66D;ENSP00000443013:N66D;ENSP00000376721:N66D	ENSP00000309507:N66D	N	+	1	0	ZBTB16	113439428	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.501000	0.81600	2.140000	0.66376	0.459000	0.35465	AAT		PASS	0.542	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		23	56	23	56	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810646	123810646	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:123810646G>A	ENST00000307033.2	+	1	397	c.323G>A	c.(322-324)gGa>gAa	p.G108E		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACTTCATTGGAGGCATCAAG	0.498																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)GGA>GAA		olfactory receptor, family 4, subfamily D,							131.0	109.0	116.0					11																	123810646		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810646G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.323G>A	11.37:g.123810646G>A	ENSP00000305970:p.Gly108Glu						p.G108E	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	323	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	108			Helical; Name=3; (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.323G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234773	0.58886	.	.	ENSG00000171014	ENST00000307033	T	0.00354	7.93	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000218	T	0.00754	0.0025	M	0.78637	2.42	0.25213	N	0.989969	D	0.89917	1.0	D	0.85130	0.997	T	0.45687	-0.9244	10	0.87932	D	0	-5.2044	10.8021	0.46495	0.0:0.1402:0.715:0.1449	.	108	Q8NGN0	OR4D5_HUMAN	E	108	ENSP00000305970:G108E	ENSP00000305970:G108E	G	+	2	0	OR4D5	123315856	0.000000	0.05858	0.992000	0.48379	0.988000	0.76386	0.238000	0.18004	2.575000	0.86900	0.655000	0.94253	GGA		PASS	0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		32	106	32	106	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252379	124252379	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:124252379G>A	ENST00000375013.2	-	1	879	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L287L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		AACTGTAGATGAGGGGATTGA	0.378																																						uc010sai.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(859-861)CTC>CTT		olfactory receptor, family 8, subfamily B,							90.0	92.0	92.0					11																	124252379		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252379G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.861C>T	11.37:g.124252379G>A							p.L287L	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	861	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	287			Helical; Name=7; (Potential).		Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.861C>T	CCDS31708.1																																																																																				PASS	0.378	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		78	126	78	126	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124749437	124749437	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:124749437G>T	ENST00000397801.1	+	25	3954	c.3762G>T	c.(3760-3762)aaG>aaT	p.K1254N	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.K17N|ROBO3_ENST00000538940.1_Missense_Mutation_p.K1232N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1254					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.K1254N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGAAACCCAAGGCTCTTCCCT	0.602																																						uc001qbc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3760-3762)AAG>AAT		roundabout, axon guidance receptor, homolog 3							34.0	35.0	34.0					11																	124749437		1897	4116	6013	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124749437G>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3762G>T	11.37:g.124749437G>T	ENSP00000380903:p.Lys1254Asn					ROBO3_uc001qbd.2_Missense_Mutation_p.K179N|ROBO3_uc010sar.1_Missense_Mutation_p.K303N|ROBO3_uc001qbe.2_Missense_Mutation_p.K179N|ROBO3_uc001qbf.1_Missense_Mutation_p.K138N	p.K1254N	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	25	3954	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1254			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.3762G>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834191	0.71373	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.70045	-0.45;-0.44;0.06	5.22	1.99	0.26369	.	0.161017	0.28877	N	0.013842	T	0.73426	0.3585	L	0.59436	1.845	0.35263	D	0.779739	D	0.57899	0.981	D	0.69824	0.966	T	0.77613	-0.2522	10	0.62326	D	0.03	.	7.1184	0.25429	0.2947:0.0:0.7053:0.0	.	1254	Q96MS0	ROBO3_HUMAN	N	1254;1232;17	ENSP00000380903:K1254N;ENSP00000441797:K1232N;ENSP00000438799:K17N	ENSP00000380903:K1254N	K	+	3	2	ROBO3	124254647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.375000	0.34295	1.018000	0.39521	0.650000	0.86243	AAG		PASS	0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		18	25	18	25	---	---	---	---
ST3GAL4	6484	broad.mit.edu	37	11	126278334	126278334	+	Silent	SNP	A	A	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:126278334A>C	ENST00000526727.1	+	7	944	c.570A>C	c.(568-570)gtA>gtC	p.V190V	ST3GAL4_ENST00000356132.4_Silent_p.V196V|ST3GAL4_ENST00000227495.6_Silent_p.V186V|ST3GAL4_ENST00000444328.2_Silent_p.V190V|ST3GAL4_ENST00000532243.1_Silent_p.V189V|ST3GAL4_ENST00000392669.2_Silent_p.V190V|ST3GAL4_ENST00000530591.1_Silent_p.V186V|ST3GAL4_ENST00000449406.2_Silent_p.V179V|ST3GAL4_ENST00000534083.1_Silent_p.V190V|ST3GAL4_ENST00000534457.1_Silent_p.V185V|ST3GAL4_ENST00000526756.1_3'UTR			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	190					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.V186V(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TCGTCCTGGTAGCTTTCAAGG	0.562																																						uc001qds.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)GTA>GTC		ST3 beta-galactoside alpha-2,3-sialyltransferase							108.0	85.0	93.0					11																	126278334		2201	4298	6499	SO:0001819	synonymous_variant	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278334A>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.570A>C	11.37:g.126278334A>C						ST3GAL4_uc001qdt.2_Silent_p.V186V|ST3GAL4_uc009zcc.2_Silent_p.V26V|ST3GAL4_uc009zcd.2_Silent_p.V179V|ST3GAL4_uc001qdu.2_Silent_p.V186V|ST3GAL4_uc001qdv.2_Silent_p.V190V|ST3GAL4_uc009zce.2_Silent_p.V186V|ST3GAL4_uc001qdw.2_Silent_p.V179V|ST3GAL4_uc001qdx.1_Silent_p.V147V|ST3GAL4_uc001qdy.2_Silent_p.V26V|ST3GAL4_uc001qdz.2_Silent_p.V26V	p.V190V	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	8	789	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	190			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	c.570A>C	CCDS58193.1																																																																																				PASS	0.562	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		26	75	26	75	---	---	---	---
ZBTB44	29068	broad.mit.edu	37	11	130106942	130106942	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr11:130106942C>A	ENST00000357899.4	-	5	1586	c.1314G>T	c.(1312-1314)agG>agT	p.R438S	ZBTB44_ENST00000530205.1_Missense_Mutation_p.R438S|ZBTB44_ENST00000525842.1_Missense_Mutation_p.R438S|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R438S			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	438					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.R438S(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCGAGTAAGCCCTGGTGAACT	0.388																																						uc001qga.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1312-1314)AGG>AGT		zinc finger and BTB domain containing 44							103.0	101.0	101.0					11																	130106942		1941	4137	6078	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130106942C>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1314G>T	11.37:g.130106942C>A	ENSP00000350574:p.Arg438Ser					ZBTB44_uc001qgb.3_Missense_Mutation_p.R438S|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qfz.2_Missense_Mutation_p.R438S	p.R438S	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	5	1708	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	438			C2H2-type 2.		Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.1314G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.7|22.7|22.7	4.318862|4.318862|4.318862	0.81469|0.81469|0.81469	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|.|T;T;T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7;0.7;0.7	5.36|5.36|5.36	5.36|5.36|5.36	0.76844|0.76844|0.76844	.|.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.51736|0.51736|0.51736	0.1692|0.1692|0.1692	N|N|N	0.17564|0.17564|0.17564	0.495|0.495|0.495	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|.|D;D;D	.|.|0.62365	.|.|0.991;0.991;0.978	.|.|D;D;D	.|.|0.76071	.|.|0.946;0.987;0.922	T|T|T	0.53739|0.53739|0.53739	-0.8396|-0.8396|-0.8396	5|5|10	.|.|0.51188	.|.|T	.|.|0.08	.|.|.	13.2359|13.2359|13.2359	0.59969|0.59969|0.59969	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.|.	.|.|438;438;438	.|.|Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.|.;ZBT44_HUMAN;.	C|V|S	417|292|438	.|.|ENSP00000433457:R438S;ENSP00000380861:R438S;ENSP00000408079:R438S;ENSP00000350574:R438S;ENSP00000434177:R438S	.|.|ENSP00000350574:R438S	G|G|R	-|-|-	1|2|3	0|0|2	ZBTB44|ZBTB44|ZBTB44	129612152|129612152|129612152	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	2.993000|2.993000|2.993000	0.49425|0.49425|0.49425	2.675000|2.675000|2.675000	0.91044|0.91044|0.91044	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GGC|GGG|AGG		PASS	0.388	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		46	81	46	81	---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1895206	1895206	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:1895206G>A	ENST00000357103.4	+	8	1380	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	377					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.G377S(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TTTCATGATCGGCGGGGGCTG	0.537																																						uc001qjm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)GGC>AGC		adiponectin receptor 2							120.0	117.0	118.0					12																	1895206		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1895206G>A	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1129G>A	12.37:g.1895206G>A	ENSP00000349616:p.Gly377Ser					ADIPOR2_uc001qjn.2_Missense_Mutation_p.G377S	p.G377S	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		8	1326	+	Ovarian(42;0.107)		377			Extracellular (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.1129G>A	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002220	0.93227	.	.	ENSG00000006831	ENST00000357103	T	0.17370	2.28	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.46614	1.455	0.80722	D	1	D	0.61080	0.989	P	0.45538	0.484	T	0.00995	-1.1487	10	0.48119	T	0.1	-9.1511	18.9294	0.92558	0.0:0.0:1.0:0.0	.	377	Q86V24	ADR2_HUMAN	S	377	ENSP00000349616:G377S	ENSP00000349616:G377S	G	+	1	0	ADIPOR2	1765467	1.000000	0.71417	0.648000	0.29521	0.995000	0.86356	9.434000	0.97515	2.462000	0.83206	0.655000	0.94253	GGC		PASS	0.537	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		149	103	149	103	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3782628	3782628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:3782628C>A	ENST00000252322.1	-	7	1123	c.655G>T	c.(655-657)Gag>Tag	p.E219*	EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.E219*|EFCAB4B_ENST00000440314.2_Nonsense_Mutation_p.E219*	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		219					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E219*(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGGGCACACTCCAGTTCATTC	0.478																																						uc001qmj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(655-657)GAG>TAG		EF-hand calcium binding domain 4B isoform c							147.0	139.0	142.0					12																	3782628		2203	4300	6503	SO:0001587	stop_gained	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3782628C>A																												ENST00000252322.1:c.655G>T	12.37:g.3782628C>A	ENSP00000252322:p.Glu219*					EFCAB4B_uc010sen.1_Nonsense_Mutation_p.E219*|EFCAB4B_uc010seo.1_Nonsense_Mutation_p.E219*|EFCAB4B_uc001qmi.1_RNA	p.E219*	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		7	1227	-			219			Potential.		B4E1X0|B9EK63	Nonsense_Mutation	SNP	ENST00000252322.1	37	c.655G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898497	0.91962	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8045	14.8173	0.70045	0.0:1.0:0.0:0.0	.	.	.	.	X	219	.	ENSP00000252322:E219X	E	-	1	0	EFCAB4B	3652889	1.000000	0.71417	0.984000	0.44739	0.296000	0.27459	7.108000	0.77055	2.064000	0.61679	0.650000	0.86243	GAG		PASS	0.478	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			78	77	78	77	---	---	---	---
FGF23	8074	broad.mit.edu	37	12	4479706	4479706	+	Missense_Mutation	SNP	G	G	A	rs190841442	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:4479706G>A	ENST00000237837.1	-	3	704	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	187					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R187W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGGGGGTCCCGCTCCGAGTCG	0.682																																						uc001qmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(559-561)CGG>TGG		fibroblast growth factor 23 precursor							21.0	26.0	25.0					12																	4479706		2199	4300	6499	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479706G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.559C>T	12.37:g.4479706G>A	ENSP00000237837:p.Arg187Trp						p.R187W	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	705	-			187					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.559C>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275617	0.10403	.	.	ENSG00000118972	ENST00000237837	D	0.89810	-2.57	4.84	-2.16	0.07080	.	0.880500	0.10071	N	0.719728	T	0.76673	0.4020	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.62770	-0.6784	10	0.62326	D	0.03	-15.6906	2.0844	0.03642	0.1545:0.3249:0.3011:0.2195	.	187	Q9GZV9	FGF23_HUMAN	W	187	ENSP00000237837:R187W	ENSP00000237837:R187W	R	-	1	2	FGF23	4349967	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.082000	0.11304	-0.265000	0.09352	0.549000	0.68633	CGG		PASS	0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			39	35	39	35	---	---	---	---
FGF6	2251	broad.mit.edu	37	12	4543478	4543478	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:4543478T>A	ENST00000228837.2	-	3	573	c.530A>T	c.(529-531)cAa>cTa	p.Q177L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	177					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.Q177L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GTAGGTCCCTTGGTACAAGTC	0.512																																						uc001qmr.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(529-531)CAA>CTA		fibroblast growth factor 6 precursor							219.0	195.0	203.0					12																	4543478		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4543478T>A	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.530A>T	12.37:g.4543478T>A	ENSP00000228837:p.Gln177Leu						p.Q177L	NM_020996	NP_066276	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		3	574	-			177					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.530A>T	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952845	0.34471	.	.	ENSG00000111241	ENST00000228837	T	0.81415	-1.49	4.99	4.09	0.47781	.	0.263667	0.37577	N	0.002033	T	0.64994	0.2649	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56619	-0.7949	10	0.66056	D	0.02	.	4.1047	0.10032	0.0:0.5298:0.1778:0.2924	.	177	P10767	FGF6_HUMAN	L	177	ENSP00000228837:Q177L	ENSP00000228837:Q177L	Q	-	2	0	FGF6	4413739	0.944000	0.32072	0.998000	0.56505	0.937000	0.57800	0.625000	0.24477	0.507000	0.28148	-0.802000	0.03209	CAA		PASS	0.512	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		31	156	31	156	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6703741	6703741	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:6703741C>A	ENST00000357008.2	-	15	2360	c.2197G>T	c.(2197-2199)Ggc>Tgc	p.G733C	CHD4_ENST00000309577.6_Missense_Mutation_p.G733C|CHD4_ENST00000544040.1_Missense_Mutation_p.G726C|CHD4_ENST00000544484.1_Missense_Mutation_p.G730C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	733					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.G733C(2)		central_nervous_system(2)	2						CAATTCAGGCCCTCCATTTGA	0.522																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(2197-2199)GGC>TGC		chromodomain helicase DNA binding protein 4							139.0	121.0	127.0					12																	6703741		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6703741C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2197G>T	12.37:g.6703741C>A	ENSP00000349508:p.Gly733Cys					CHD4_uc001qpn.2_Missense_Mutation_p.G726C|CHD4_uc001qpp.2_Missense_Mutation_p.G730C	p.G733C	NM_001273	NP_001264	Q14839	CHD4_HUMAN			15	2361	-			733					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2197G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517015	0.85495	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.17	5.17	0.71159	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.95712	3.71	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	0.98799	1.0739	10	0.87932	D	0	.	18.8675	0.92298	0.0:1.0:0.0:0.0	.	733;733;726	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	730;726;733;733;707	ENSP00000440392:G730C;ENSP00000440542:G726C;ENSP00000312419:G733C;ENSP00000349508:G733C	ENSP00000312419:G733C	G	-	1	0	CHD4	6574002	1.000000	0.71417	0.997000	0.53966	0.709000	0.40893	7.625000	0.83145	2.686000	0.91538	0.591000	0.81541	GGC		PASS	0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		22	123	22	123	---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8374731	8374731	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:8374731C>G	ENST00000538603.1	-	7	1640	c.1082G>C	c.(1081-1083)cGg>cCg	p.R361P	FAM90A1_ENST00000307435.6_Missense_Mutation_p.R361P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	361							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R361P(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CGGAGGCTGCCGGTCGCCGCT	0.667																																						uc001qui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1081-1083)CGG>CCG		hypothetical protein LOC55138							24.0	26.0	25.0					12																	8374731		2199	4291	6490	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374731C>G	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1082G>C	12.37:g.8374731C>G	ENSP00000445418:p.Arg361Pro					FAM90A1_uc001quh.2_Missense_Mutation_p.R361P	p.R361P	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1641	-			361					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.1082G>C	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	6.886	0.532948	0.13188	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.12879	2.64;2.64	1.02	-2.04	0.07343	.	.	.	.	.	T	0.04003	0.0112	N	0.01874	-0.695	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.34850	-0.9812	9	0.45353	T	0.12	-0.0357	1.8281	0.03125	0.4262:0.2961:0.0:0.2777	.	361	Q86YD7	F90A1_HUMAN	P	361	ENSP00000307798:R361P;ENSP00000445418:R361P	ENSP00000307798:R361P	R	-	2	0	FAM90A1	8265998	0.011000	0.17503	0.000000	0.03702	0.017000	0.09413	-0.920000	0.04013	-1.304000	0.02329	0.194000	0.17425	CGG		PASS	0.667	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		31	29	31	29	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21196275	21196275	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:21196275C>T	ENST00000421593.2	+	6	594	c.594C>T	c.(592-594)atC>atT	p.I198I	LST3_ENST00000381541.3_Silent_p.I245I|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.I245I|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I198I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAGGCACTATCAGGATAACTC	0.373																																						uc010sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)ATC>ATT		liver-specific organic anion transporter 3TM12							166.0	169.0	168.0					12																	21196275		2203	4300	6503	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21196275C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.594C>T	12.37:g.21196275C>T						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.I245I	p.I198I	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	594	+			198					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.594C>T	CCDS44843.1																																																																																				PASS	0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		82	150	82	150	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41587941	41587941	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:41587941G>A	ENST00000402685.2	+	3	802	c.794G>A	c.(793-795)gGa>gAa	p.G265E		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	265	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G265E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTAGAAAATGGACCTGCTGAC	0.338																																						uc010skn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(196-198)GGA>GAA		PDZ domain containing RING finger 4 isoform 2							64.0	63.0	63.0					12																	41587941		1568	3581	5149	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41587941G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.794G>A	12.37:g.41587941G>A	ENSP00000384197:p.Gly265Glu						p.G66E	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			3	265	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	265			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.197G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511916	0.85389	.	.	ENSG00000165966	ENST00000402685	T	0.57107	0.42	4.63	4.63	0.57726	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.79581	0.4470	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85473	0.1174	9	0.87932	D	0	-0.0227	16.5565	0.84486	0.0:0.0:1.0:0.0	.	265	Q6ZMN7	PZRN4_HUMAN	E	265	ENSP00000384197:G265E	ENSP00000384197:G265E	G	+	2	0	PDZRN4	39874208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.351000	0.73022	2.514000	0.84764	0.591000	0.81541	GGA		PASS	0.338	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		19	32	19	32	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48380194	48380194	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:48380194G>A	ENST00000380518.3	-	23	1616	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P415P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	484	Triple-helical region.				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.P484P(1)|p.P415P(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)	CTTCACCAGCGGGTCCAGGGG	0.612																																						uc001rqu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1450-1452)CCC>CCT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						11.0	12.0	11.0					12																	48380194		2174	4251	6425	SO:0001819	synonymous_variant	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.chr12:48380194G>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.1452C>T	12.37:g.48380194G>A						COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.P415P	p.P484P	NM_001844	NP_001835	P02458	CO2A1_HUMAN			23	1633	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	484			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.1452C>T	CCDS41778.1																																																																																				PASS	0.612	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	6	6	6	---	---	---	---
TUBA1C	84790	broad.mit.edu	37	12	49666042	49666042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:49666042C>T	ENST00000301072.6	+	4	657	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	TUBA1C_ENST00000541364.1_Nonsense_Mutation_p.Q198*|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	128					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q128*(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCAGGCTGACCAGTGCACCGG	0.438																																						uc001rtt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(382-384)CAG>TAG		tubulin alpha 6							55.0	59.0	57.0					12																	49666042		2203	4300	6503	SO:0001587	stop_gained	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666042C>T	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.382C>T	12.37:g.49666042C>T	ENSP00000301072:p.Gln128*					TUBA1C_uc001rts.2_Nonsense_Mutation_p.Q93*|TUBA1C_uc010smh.1_Nonsense_Mutation_p.Q198*	p.Q128*	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN			4	482	+			128						Nonsense_Mutation	SNP	ENST00000301072.6	37	c.382C>T	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324693	0.81580	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	.	.	.	4.69	3.77	0.43336	.	0.198066	0.34700	N	0.003752	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.5489	0.61719	0.1579:0.8421:0.0:0.0	.	.	.	.	X	198;128	.	ENSP00000301072:Q128X	Q	+	1	0	TUBA1C	47952309	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.497000	0.81536	1.228000	0.43614	0.556000	0.70494	CAG		PASS	0.438	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		21	99	21	99	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50471005	50471005	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:50471005C>T	ENST00000447966.2	+	4	797	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	ASIC1_ENST00000228468.4_Missense_Mutation_p.R190C|ASIC1_ENST00000552438.1_Missense_Mutation_p.R224C	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	190					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.R190C(1)								Amiloride(DB00594)|Diclofenac(DB00586)	GGTCTTCACACGCTATGGAAA	0.597																																						uc001rvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)CGC>TGC		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						117.0	98.0	105.0					12																	50471005		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471005C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.568C>T	12.37:g.50471005C>T	ENSP00000400228:p.Arg190Cys					ACCN2_uc001rvv.2_Missense_Mutation_p.R190C|ACCN2_uc009zln.2_Translation_Start_Site|ACCN2_uc009zlo.2_Missense_Mutation_p.R190C	p.R190C	NM_001095	NP_001086	P78348	ACCN2_HUMAN			4	797	+			190			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.568C>T	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647354	0.47258	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.66460	-0.21;-0.21;-0.21	4.03	3.12	0.35913	.	0.000000	0.64402	D	0.000004	T	0.82033	0.4949	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.975	D	0.84243	0.0473	10	0.87932	D	0	-21.3582	11.3636	0.49657	0.3293:0.6707:0.0:0.0	.	190;190	P78348;P78348-1	ACCN2_HUMAN;.	C	190;190;224	ENSP00000228468:R190C;ENSP00000400228:R190C;ENSP00000450247:R224C	ENSP00000228468:R190C	R	+	1	0	ACCN2	48757272	0.905000	0.30787	0.993000	0.49108	0.982000	0.71751	1.856000	0.39389	1.019000	0.39547	0.561000	0.74099	CGC		PASS	0.597	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		23	158	23	158	---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51851168	51851168	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:51851168A>T	ENST00000453097.2	+	6	825	c.608A>T	c.(607-609)gAc>gTc	p.D203V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.D230V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.D150V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.D150V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.D150V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.D203V(2)|p.D150V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTCCAGTGACCTGAATGAC	0.463																																						uc001rys.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(607-609)GAC>GTC		solute carrier family 4, sodium bicarbonate							113.0	99.0	104.0					12																	51851168		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51851168A>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.608A>T	12.37:g.51851168A>T	ENSP00000405812:p.Asp203Val					SLC4A8_uc010sni.1_Missense_Mutation_p.D150V|SLC4A8_uc001rym.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryn.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryo.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryp.1_Missense_Mutation_p.D150V|SLC4A8_uc010snj.1_Missense_Mutation_p.D230V|SLC4A8_uc001ryq.3_Missense_Mutation_p.D203V|SLC4A8_uc001ryr.2_Missense_Mutation_p.D203V|SLC4A8_uc010snk.1_Missense_Mutation_p.D150V	p.D203V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	6	786	+			203			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.608A>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279354	0.40294	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.29	4.07	0.47477	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.093165	0.64402	D	0.000001	T	0.41811	0.1175	N	0.08118	0	0.53688	D	0.999975	P;B;B;B;B;B;B	0.34864	0.473;0.005;0.203;0.008;0.002;0.001;0.217	B;B;B;B;B;B;B	0.34991	0.193;0.015;0.098;0.044;0.015;0.026;0.098	T	0.34601	-0.9822	10	0.13470	T	0.59	.	10.3261	0.43793	0.8351:0.1649:0.0:0.0	.	150;230;150;203;203;203;150	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	V	150;230;203;150;203;150;150;150	ENSP00000441520:D150V;ENSP00000351483:D230V;ENSP00000405812:D203V;ENSP00000378325:D150V;ENSP00000442561:D150V	ENSP00000315789:D203V	D	+	2	0	SLC4A8	50137435	0.801000	0.28930	1.000000	0.80357	0.974000	0.67602	2.602000	0.46257	2.129000	0.65627	0.533000	0.62120	GAC		PASS	0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		19	75	19	75	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53449424	53449424	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:53449424G>C	ENST00000314250.6	+	9	936	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	TENC1_ENST00000552570.1_Missense_Mutation_p.E216Q|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.E92Q|TENC1_ENST00000451358.1_Missense_Mutation_p.E216Q|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.E216Q|TENC1_ENST00000549700.1_Missense_Mutation_p.E216Q|TENC1_ENST00000314276.3_Missense_Mutation_p.E226Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	216	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E216Q(1)|p.E226Q(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CAAAGCCATGGAGACATGGCT	0.607																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(646-648)GAG>CAG		tensin like C1 domain containing phosphatase							90.0	85.0	87.0					12																	53449424		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53449424G>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.646G>C	12.37:g.53449424G>C	ENSP00000319684:p.Glu216Gln					uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Missense_Mutation_p.E92Q|TENC1_uc001sbm.2_Missense_Mutation_p.E226Q|TENC1_uc001sbn.2_Missense_Mutation_p.E226Q|TENC1_uc001sbo.1_Missense_Mutation_p.E216Q|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank	p.E216Q	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			9	781	+			216			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.646G>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857235	0.91433	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	4.53	4.53	0.55603	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.993	D;D;D;D	0.72075	0.946;0.974;0.976;0.968	D	0.99208	1.0875	10	0.72032	D	0.01	-2.6705	15.1522	0.72709	0.0:0.0:1.0:0.0	.	216;216;226;193	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	Q	92;226;216;216;216;216;216;216	ENSP00000369232:E92Q;ENSP00000319756:E226Q;ENSP00000319684:E216Q;ENSP00000393362:E216Q;ENSP00000449363:E216Q;ENSP00000447021:E216Q;ENSP00000449361:E216Q	ENSP00000319684:E216Q	E	+	1	0	TENC1	51735691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.215000	0.95146	2.518000	0.84900	0.561000	0.74099	GAG		PASS	0.607	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		36	124	36	124	---	---	---	---
OR10P1	121130	broad.mit.edu	37	12	56030764	56030764	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:56030764T>G	ENST00000309675.2	+	1	121	c.89T>G	c.(88-90)gTg>gGg	p.V30G	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V30G(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGTTCTGGGTGGTGCTTCTG	0.577																																						uc010spq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(88-90)GTG>GGG		olfactory receptor, family 10, subfamily P,							120.0	110.0	113.0					12																	56030764		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56030764T>G	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.89T>G	12.37:g.56030764T>G	ENSP00000308082:p.Val30Gly						p.V30G	NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN			1	89	+			30			Helical; Name=1; (Potential).		B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.89T>G	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	T	1.268	-0.613830	0.03690	.	.	ENSG00000175398	ENST00000309675	T	0.03152	4.03	4.39	1.78	0.24846	.	1.845140	0.03190	N	0.173162	T	0.04770	0.0129	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41070	-0.9529	10	0.87932	D	0	.	9.583	0.39499	0.0:0.0:0.3313:0.6687	.	30	Q8NGE3	O10P1_HUMAN	G	30	ENSP00000308082:V30G	ENSP00000308082:V30G	V	+	2	0	OR10P1	54317031	0.006000	0.16342	0.036000	0.18154	0.009000	0.06853	1.645000	0.37238	0.808000	0.34231	0.459000	0.35465	GTG		PASS	0.577	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			37	158	37	158	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56522358	56522358	+	Silent	SNP	C	C	T	rs80169445		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:56522358C>T	ENST00000394048.5	+	1	519	c.255C>T	c.(253-255)ctC>ctT	p.L85L	ESYT1_ENST00000541590.1_Silent_p.L85L|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.L85L|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	85					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L85L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTTCGGCCTCGCCCTCTACC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16444	0.001		0.0	False		,,,				2504	0.0					uc001sjq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(253-255)CTC>CTT		extended synaptotagmin-like protein 1							120.0	115.0	116.0					12																	56522358		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56522358C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.255C>T	12.37:g.56522358C>T						ESYT1_uc001sjr.2_Silent_p.L85L	p.L85L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			1	305	+			85					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.255C>T	CCDS8904.1																																																																																				PASS	0.632	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		16	14	16	14	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112174718	112174718	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:112174718C>T	ENST00000313698.4	+	12	1779	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	ACAD10_ENST00000455480.2_Missense_Mutation_p.P573S|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.P144S|ACAD10_ENST00000549590.1_Missense_Mutation_p.P542S	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	542						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.P542S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AATGGGGCTCCCTCCCACTGA	0.483																																						uc001tsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1624-1626)CCT>TCT		acyl-Coenzyme A dehydrogenase family, member 10							138.0	122.0	127.0					12																	112174718		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112174718C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1624C>T	12.37:g.112174718C>T	ENSP00000325137:p.Pro542Ser					ACAD10_uc001tsp.2_Missense_Mutation_p.P542S|ACAD10_uc009zvx.2_Missense_Mutation_p.P573S|ACAD10_uc001tss.1_RNA	p.P542S	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			12	1824	+			542					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1624C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036499	0.19669	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.113581	0.64402	D	0.000013	T	0.25457	0.0619	L	0.46885	1.475	0.40640	D	0.98193	B;B;P	0.40211	0.03;0.391;0.707	B;B;B	0.38655	0.03;0.096;0.278	T	0.03157	-1.1066	10	0.34782	T	0.22	.	15.2169	0.73274	0.0:0.8588:0.1412:0.0	.	573;542;542	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	S	144;542;542;573;542	ENSP00000376411:P144S;ENSP00000446959:P542S;ENSP00000389813:P573S;ENSP00000325137:P542S	ENSP00000325137:P542S	P	+	1	0	ACAD10	110659101	0.501000	0.26099	0.874000	0.34290	0.088000	0.18126	1.138000	0.31491	2.483000	0.83821	0.561000	0.74099	CCT		PASS	0.483	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		25	96	25	96	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112184962	112184962	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:112184962G>A	ENST00000313698.4	+	15	2521	c.2366G>A	c.(2365-2367)cGc>cAc	p.R789H	ACAD10_ENST00000455480.2_Missense_Mutation_p.R820H|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R391H	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	789						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R789H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGAAAGCCCGCTCCTGTTTT	0.637																																						uc001tsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2365-2367)CGC>CAC		acyl-Coenzyme A dehydrogenase family, member 10							63.0	54.0	57.0					12																	112184962		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112184962G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2366G>A	12.37:g.112184962G>A	ENSP00000325137:p.Arg789His					ACAD10_uc001tsp.2_Missense_Mutation_p.R789H|ACAD10_uc009zvx.2_Missense_Mutation_p.R820H|ACAD10_uc001tss.1_RNA	p.R789H	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			15	2566	+			789					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2366G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206682	0.79127	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.98987	-5.3;-5.3;-5.3	5.79	4.87	0.63330	Acyl-CoA dehydrogenase/oxidase (1);	0.190614	0.45361	D	0.000379	D	0.99312	0.9759	M	0.92880	3.355	0.39544	D	0.968863	D;P;B	0.76494	0.999;0.945;0.421	P;B;B	0.60286	0.872;0.298;0.05	D	0.99338	1.0911	10	0.72032	D	0.01	.	15.8888	0.79276	0.0:0.1353:0.8646:0.0	.	820;789;789	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	H	391;789;820;789	ENSP00000376411:R391H;ENSP00000389813:R820H;ENSP00000325137:R789H	ENSP00000325137:R789H	R	+	2	0	ACAD10	110669345	0.938000	0.31826	0.986000	0.45419	0.456000	0.32438	3.157000	0.50716	2.759000	0.94783	0.650000	0.86243	CGC		PASS	0.637	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		18	48	18	48	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617367	119617367	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:119617367G>C	ENST00000281938.2	+	1	921	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	84					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.E84K(2)|p.E84*(2)|p.E84Q(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCCTGCCGAGGGCAGGAC	0.657																																						uc001txb.2																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(4)|cervix(2)	central_nervous_system(1)|skin(1)	2						c.(250-252)GAG>CAG		heat shock 22kDa protein 8							28.0	33.0	31.0					12																	119617367		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617367G>C	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.250G>C	12.37:g.119617367G>C	ENSP00000281938:p.Glu84Gln					HSPB8_uc001txc.2_Missense_Mutation_p.E84Q	p.E84Q	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	773	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		84					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.250G>C	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	4.915	0.170086	0.09339	.	.	ENSG00000152137	ENST00000281938	D	0.86627	-2.15	4.42	3.52	0.40303	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.883630	0.10103	N	0.715698	D	0.84365	0.5456	L	0.47716	1.5	0.32564	N	0.530711	B	0.23650	0.089	B	0.27887	0.084	T	0.79588	-0.1741	9	.	.	.	.	14.4682	0.67497	0.0:0.1479:0.8521:0.0	.	84	Q9UJY1	HSPB8_HUMAN	Q	84	ENSP00000281938:E84Q	.	E	+	1	0	HSPB8	118101750	1.000000	0.71417	0.575000	0.28536	0.126000	0.20510	4.967000	0.63722	1.066000	0.40716	0.563000	0.77884	GAG		PASS	0.657	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		12	24	12	24	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121686468	121686468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:121686468C>A	ENST00000324774.5	-	14	2221	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	CAMKK2_ENST00000392473.2_Nonsense_Mutation_p.E465*|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000412367.2_Nonsense_Mutation_p.E465*|CAMKK2_ENST00000337174.3_Nonsense_Mutation_p.E465*|CAMKK2_ENST00000545538.1_Nonsense_Mutation_p.E252*|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000404169.3_Nonsense_Mutation_p.E465*|CAMKK2_ENST00000392474.2_Nonsense_Mutation_p.E465*|CAMKK2_ENST00000402834.4_Nonsense_Mutation_p.E465*	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	465					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.E465*(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGTCACTTCGACCAGCGTG	0.612																																						uc001tzu.2																			2	Substitution - Nonsense(2)		lung(2)	lung(1)|large_intestine(1)|stomach(1)	3						c.(1393-1395)GAA>TAA		calcium/calmodulin-dependent protein kinase							206.0	156.0	173.0					12																	121686468		2203	4300	6503	SO:0001587	stop_gained	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121686468C>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1393G>T	12.37:g.121686468C>A	ENSP00000312741:p.Glu465*					CAMKK2_uc001tzt.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzv.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Nonsense_Mutation_p.E252*|CAMKK2_uc001uaa.1_Nonsense_Mutation_p.E465*|CAMKK2_uc001uab.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001uac.2_Intron	p.E465*	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			14	1517	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		465					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Nonsense_Mutation	SNP	ENST00000324774.5	37	c.1393G>T	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.708938	0.98447	.	.	ENSG00000110931	ENST00000392474;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000392473	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.0984	18.7049	0.91633	0.0:1.0:0.0:0.0	.	.	.	.	X	465;465;465;252;465;465;448;465	.	ENSP00000312741:E465X	E	-	1	0	CAMKK2	120170851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.263000	0.78421	2.667000	0.90743	0.655000	0.94253	GAA		PASS	0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		49	136	49	136	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122359576	122359576	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr12:122359576C>T	ENST00000288912.4	+	2	1219	c.365C>T	c.(364-366)tCa>tTa	p.S122L	WDR66_ENST00000397454.2_Missense_Mutation_p.S122L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	122							calcium ion binding (GO:0005509)	p.S122L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCAATCACATCAGGAATTTTC	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(364-366)TCA>TTA		WD repeat domain 66							106.0	100.0	102.0					12																	122359576		1918	4140	6058	SO:0001583	missense	144406						calcium ion binding	g.chr12:122359576C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.365C>T	12.37:g.122359576C>T	ENSP00000288912:p.Ser122Leu						p.S122L	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	507	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		122					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.365C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750619	0.15778	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.06294	3.32;3.36	2.06	2.06	0.26882	.	.	.	.	.	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35822	-0.9773	9	0.42905	T	0.14	.	7.6808	0.28513	0.0:1.0:0.0:0.0	.	122	Q8TBY9	WDR66_HUMAN	L	122	ENSP00000288912:S122L;ENSP00000380595:S122L	ENSP00000288912:S122L	S	+	2	0	WDR66	120843959	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.619000	0.24388	1.483000	0.48342	0.467000	0.42956	TCA		PASS	0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		37	86	37	86	---	---	---	---
RASL11A	387496	broad.mit.edu	37	13	27847445	27847445	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:27847445C>G	ENST00000241463.4	+	4	1161	c.543C>G	c.(541-543)aaC>aaG	p.N181K	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A									p.N181K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CTAGCGAAAACTACGAAGATG	0.527																																						uc001urd.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(541-543)AAC>AAG		RAS-like, family 11, member A							60.0	58.0	58.0					13																	27847445		2203	4300	6503	SO:0001583	missense	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847445C>G	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.543C>G	13.37:g.27847445C>G	ENSP00000241463:p.Asn181Lys						p.N181K	NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1161	+		Lung SC(185;0.0161)	181			Small GTPase-like.			Missense_Mutation	SNP	ENST00000241463.4	37	c.543C>G	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644452	0.67244	.	.	ENSG00000122035	ENST00000241463	T	0.80653	-1.4	5.67	5.67	0.87782	Small GTP-binding protein domain (1);	0.133616	0.64402	D	0.000002	D	0.82907	0.5139	L	0.48218	1.51	0.51012	D	0.999904	P	0.42296	0.775	P	0.54590	0.756	T	0.78656	-0.2119	10	0.23302	T	0.38	.	13.9895	0.64357	0.0:0.9276:0.0:0.0724	.	181	Q6T310	RSLBA_HUMAN	K	181	ENSP00000241463:N181K	ENSP00000241463:N181K	N	+	3	2	RASL11A	26745445	1.000000	0.71417	0.932000	0.37286	0.554000	0.35429	2.872000	0.48467	2.681000	0.91329	0.655000	0.94253	AAC		PASS	0.527	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		16	36	16	36	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28623578	28623578	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:28623578A>G	ENST00000241453.7	-	8	1060	c.979T>C	c.(979-981)Tac>Cac	p.Y327H	FLT3_ENST00000380982.4_Missense_Mutation_p.Y327H|FLT3_ENST00000537084.1_Missense_Mutation_p.Y327H	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	327	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y327H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTGTAGTATCCGGTGTCG	0.408			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(979-981)TAC>CAC		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						236.0	209.0	218.0					13																	28623578		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28623578A>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.979T>C	13.37:g.28623578A>G	ENSP00000241453:p.Tyr327His					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.Y327H	p.Y327H	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	8	1061	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	327			Extracellular (Potential).|Ig-like C2-type.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.979T>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	5.764	0.325325	0.10900	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.22743	1.94;1.94;1.94	5.62	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.521080	0.19732	N	0.107331	T	0.07773	0.0195	N	0.03608	-0.345	0.25638	N	0.986239	B;B	0.11235	0.003;0.004	B;B	0.14023	0.004;0.01	T	0.33189	-0.9878	10	0.19147	T	0.46	.	6.113	0.20112	0.7451:0.0:0.2549:0.0	.	327;327	P36888-2;P36888	.;FLT3_HUMAN	H	327	ENSP00000241453:Y327H;ENSP00000370369:Y327H;ENSP00000438139:Y327H	ENSP00000241453:Y327H	Y	-	1	0	FLT3	27521578	0.994000	0.37717	0.931000	0.37212	0.466000	0.32739	2.004000	0.40854	1.049000	0.40321	0.533000	0.62120	TAC		PASS	0.408	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			171	95	171	95	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33684169	33684169	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:33684169G>T	ENST00000336934.5	-	12	3004	c.2888C>A	c.(2887-2889)cCc>cAc	p.P963H	STARD13_ENST00000255486.4_Missense_Mutation_p.P955H|STARD13_ENST00000399365.3_Missense_Mutation_p.P845H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P963H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GACCACTGAGGGGGGTGCTTC	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uuw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2887-2889)CCC>CAC		StAR-related lipid transfer (START) domain							93.0	83.0	87.0					13																	33684169		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684169G>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2888C>A	13.37:g.33684169G>T	ENSP00000338785:p.Pro963His		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_uc001uuu.2_Missense_Mutation_p.P955H|STARD13_uc001uuv.2_Missense_Mutation_p.P845H|STARD13_uc001uux.2_Missense_Mutation_p.P928H|STARD13_uc010tec.1_RNA	p.P963H	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3014	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	963			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.2888C>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671786	0.88348	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.37235	1.21;1.21;1.21	5.34	5.34	0.76211	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.75966	-0.3131	10	0.87932	D	0	.	19.4036	0.94640	0.0:0.0:1.0:0.0	.	928;963;955	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	H	845;955;963	ENSP00000382300:P845H;ENSP00000255486:P955H;ENSP00000338785:P963H	ENSP00000255486:P955H	P	-	2	0	STARD13	32582169	1.000000	0.71417	0.425000	0.26659	0.737000	0.42083	9.700000	0.98707	2.657000	0.90304	0.655000	0.94253	CCC		PASS	0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		62	41	62	41	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42875329	42875329	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:42875329C>G	ENST00000025301.2	+	8	2622	c.2447C>G	c.(2446-2448)tCt>tGt	p.S816C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	816					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.S816C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AATGGTGATTCTGCCCAAGTG	0.408																																						uc001uys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2446-2448)TCT>TGT		A-kinase anchor protein 11							73.0	69.0	70.0					13																	42875329		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875329C>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2447C>G	13.37:g.42875329C>G	ENSP00000025301:p.Ser816Cys						p.S816C	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2622	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	816					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2447C>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	6.852	0.526540	0.13066	.	.	ENSG00000023516	ENST00000025301	T	0.16457	2.34	6.17	5.33	0.75918	.	0.560194	0.17722	N	0.164204	T	0.16128	0.0388	L	0.39898	1.24	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.14448	-1.0472	10	0.30854	T	0.27	.	12.7232	0.57154	0.0:0.8206:0.1161:0.0633	.	816	Q9UKA4	AKA11_HUMAN	C	816	ENSP00000025301:S816C	ENSP00000025301:S816C	S	+	2	0	AKAP11	41773329	0.028000	0.19301	0.369000	0.25952	0.056000	0.15407	0.575000	0.23729	1.627000	0.50400	0.655000	0.94253	TCT		PASS	0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		41	89	41	89	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549424	46549424	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:46549424T>A	ENST00000242848.4	-	12	2810	c.2462A>T	c.(2461-2463)aAa>aTa	p.K821I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K821I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	821	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K821I(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTACTTTGATTTTCTTTCATC	0.333																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2461-2463)AAA>ATA		zinc finger CCCH-type containing 13							198.0	190.0	193.0					13																	46549424		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549424T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2462A>T	13.37:g.46549424T>A	ENSP00000242848:p.Lys821Ile					ZC3H13_uc001vas.1_Missense_Mutation_p.K821I|ZC3H13_uc001vat.1_Missense_Mutation_p.K821I	p.K821I	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2468	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	821			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2462A>T		.	.	.	.	.	.	.	.	.	.	T	10.01	1.234203	0.22626	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35789	2.3;1.29	5.51	4.34	0.51931	.	0.000000	0.64402	D	0.000011	T	0.54351	0.1853	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.69142	0.855;0.962	T	0.54754	-0.8246	10	0.56958	D	0.05	.	10.8424	0.46724	0.0:0.0747:0.0:0.9253	.	821;821	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	821	ENSP00000242848:K821I;ENSP00000282007:K821I	ENSP00000242848:K821I	K	-	2	0	ZC3H13	45447425	1.000000	0.71417	0.996000	0.52242	0.720000	0.41350	4.549000	0.60726	0.937000	0.37394	0.383000	0.25322	AAA		PASS	0.333	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		185	103	185	103	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681661	70681661	+	Silent	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:70681661G>C	ENST00000377844.4	-	1	930	c.171C>G	c.(169-171)ctC>ctG	p.L57L	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	57	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L57L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTGGCTTTTGAGCAGGCGAC	0.617																																						uc001vip.2																			2	Substitution - coding silent(2)		ovary(1)|lung(1)		0						c.(169-171)CTC>CTG		kelch-like 1 protein							65.0	75.0	72.0					13																	70681661		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681661G>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.171C>G	13.37:g.70681661G>C						KLHL1_uc010thm.1_Silent_p.L57L|ATXN8OS_uc010aej.1_RNA	p.L57L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	965	-		Breast(118;0.000162)	57			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.171C>G	CCDS9445.1																																																																																				PASS	0.617	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		44	37	44	37	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101828722	101828722	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:101828722G>T	ENST00000251127.6	-	15	1849	c.1768C>A	c.(1768-1770)Ctc>Atc	p.L590I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	590					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L590I(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACTCAGGAGGATCTATAAA	0.289																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1768-1770)CTC>ATC		voltage gated channel like 1							79.0	77.0	78.0					13																	101828722		2203	4299	6502	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101828722G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1768C>A	13.37:g.101828722G>T	ENSP00000251127:p.Leu590Ile					NALCN_uc001voy.2_Missense_Mutation_p.L305I	p.L590I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			15	1957	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		590			Helical; Name=S6 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1768C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442677	0.63067	.	.	ENSG00000102452	ENST00000251127	D	0.99005	-5.32	5.94	5.94	0.96194	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	N	0.17922	0.545	0.80722	D	1	P	0.37207	0.587	B	0.38225	0.268	D	0.96622	0.9460	10	0.42905	T	0.14	.	17.2904	0.87154	0.0:0.0:1.0:0.0	.	590	Q8IZF0	NALCN_HUMAN	I	590	ENSP00000251127:L590I	ENSP00000251127:L590I	L	-	1	0	NALCN	100626723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.979000	0.56888	2.820000	0.97059	0.650000	0.86243	CTC		PASS	0.289	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		65	54	65	54	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110853789	110853789	+	Silent	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr13:110853789T>A	ENST00000375820.4	-	19	1201	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	COL4A1_ENST00000543140.1_Silent_p.P360P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	360	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P360P(1)|p.P349P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTACCTTTTGGGCCTGGCT	0.567																																						uc001vqw.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1078-1080)CCA>CCT		alpha 1 type IV collagen preproprotein							95.0	82.0	86.0					13																	110853789		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110853789T>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1080A>T	13.37:g.110853789T>A						COL4A1_uc010agl.2_Intron	p.P360P	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		19	1202	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	360			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.1080A>T	CCDS9511.1																																																																																				PASS	0.567	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			22	31	22	31	---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21681153	21681153	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:21681153C>G	ENST00000320084.7	-	5	767	c.528G>C	c.(526-528)aaG>aaC	p.K176N	HNRNPC_ENST00000557201.1_Missense_Mutation_p.K176N|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000554969.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000556142.1_Missense_Mutation_p.K176N|HNRNPC_ENST00000556628.1_Missense_Mutation_p.K96N|HNRNPC_ENST00000553753.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000555309.1_Missense_Mutation_p.K176N|HNRNPC_ENST00000556897.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000555914.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000554455.1_Missense_Mutation_p.K176N|HNRNPC_ENST00000556513.1_Missense_Mutation_p.K176N|HNRNPC_ENST00000553300.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000336053.6_Missense_Mutation_p.K163N|HNRNPC_ENST00000449098.1_Missense_Mutation_p.K163N|HNRNPC_ENST00000430246.2_Missense_Mutation_p.K163N|HNRNPC_ENST00000420743.2_Missense_Mutation_p.K176N	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	176					3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.K176N(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GCTGTCCACTCTTAGAATTGA	0.453																																					NSCLC(108;607 2244 12726 38757)	uc001vzy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)AAG>AAC		heterogeneous nuclear ribonucleoprotein C							107.0	115.0	112.0					14																	21681153		2197	4293	6490	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21681153C>G		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.528G>C	14.37:g.21681153C>G	ENSP00000319690:p.Lys176Asn					HNRNPC_uc001vzw.2_Missense_Mutation_p.K163N|HNRNPC_uc001wad.2_Missense_Mutation_p.K96N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.K163N|HNRNPC_uc001waa.2_Missense_Mutation_p.K176N|HNRNPC_uc010ail.2_Missense_Mutation_p.K176N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.K163N|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Missense_Mutation_p.K41N|HNRNPC_uc001waf.2_Missense_Mutation_p.K163N|HNRNPC_uc001wae.2_Missense_Mutation_p.K163N	p.K176N	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	6	772	-	all_cancers(95;0.00176)		176					D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.528G>C	CCDS41915.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915676|3.915676	0.73098|0.73098	.|.	.|.	ENSG00000092199|ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383;ENST00000555215|ENST00000452166	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.20069|.	2.61;2.78;2.61;2.61;2.69;2.78;2.61;2.61;2.59;2.74;2.1;2.69;2.78;2.61;2.61;2.78;2.32;2.11;2.64;2.23|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.216802|.	0.26514|.	U|.	0.023959|.	T|T	0.68155|0.68155	0.2970|0.2970	M|M	0.73598|0.73598	2.24|2.24	0.47778|0.47778	D|D	0.999517|0.999517	D;D;B;D;B;D|.	0.69078|.	0.962;0.996;0.01;0.997;0.258;0.997|.	P;P;B;D;B;D|.	0.66602|.	0.765;0.883;0.039;0.945;0.101;0.933|.	T|T	0.71543|0.71543	-0.4561|-0.4561	10|6	0.72032|0.66056	D|D	0.01|0.02	.|.	10.1454|10.1454	0.42760|0.42760	0.0:0.9046:0.0:0.0954|0.0:0.9046:0.0:0.0954	.|.	71;163;96;163;176;163|.	B4DQQ2;B4DY08;P07910-3;G3V4C1;P07910;P07910-2|.	.;.;.;.;HNRPC_HUMAN;.|.	N|T	163;176;163;163;176;176;163;163;163;176;96;176;176;163;71;163;176;84;176;60;163;176|136	ENSP00000338095:K163N;ENSP00000319690:K176N;ENSP00000404559:K163N;ENSP00000450725:K163N;ENSP00000451187:K176N;ENSP00000451291:K176N;ENSP00000442816:K163N;ENSP00000450548:K163N;ENSP00000451708:K163N;ENSP00000450790:K176N;ENSP00000451652:K96N;ENSP00000452214:K176N;ENSP00000452276:K176N;ENSP00000450544:K163N;ENSP00000451176:K163N;ENSP00000404848:K176N;ENSP00000450601:K84N;ENSP00000452545:K60N;ENSP00000452021:K163N;ENSP00000452213:K176N|.	ENSP00000216296:K71N|ENSP00000391047:R136T	K|R	-|-	3|2	2|0	HNRNPC|HNRNPC	20750993|20750993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.130000|3.130000	0.50508|0.50508	2.226000|2.226000	0.72624|0.72624	0.563000|0.563000	0.77884|0.77884	AAG|AGA		PASS	0.453	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			52	103	52	103	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855703	23855703	+	Silent	SNP	G	G	T	rs545198745		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:23855703G>T	ENST00000356287.3	-	32	4809	c.4780C>A	c.(4780-4782)Cgg>Agg	p.R1594R	MYH6_ENST00000405093.3_Silent_p.R1594R|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1594					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R1594R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCACCCGCTGGTGGTTG	0.592																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4780-4782)CGG>AGG		myosin heavy chain 6							175.0	176.0	175.0					14																	23855703		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855703G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4780C>A	14.37:g.23855703G>T							p.R1594R	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4847	-	all_cancers(95;2.54e-05)		1594			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4780C>A	CCDS9600.1																																																																																				PASS	0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			37	214	37	214	---	---	---	---
CPNE6	9362	broad.mit.edu	37	14	24544799	24544799	+	Splice_Site	SNP	C	C	A	rs377388682		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:24544799C>A	ENST00000397016.2	+	10	1174	c.863C>A	c.(862-864)aCg>aAg	p.T288K	CPNE6_ENST00000216775.2_Splice_Site_p.T288K|CPNE6_ENST00000537691.1_Splice_Site_p.T343K	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	288					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.T288K(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCAGTGCACGGTAAATTTC	0.532																																						uc001wll.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(862-864)ACG>AAG		copine 6							96.0	82.0	87.0					14																	24544799		2203	4300	6503	SO:0001630	splice_region_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24544799C>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.864+1C>A	14.37:g.24544799C>A						CPNE6_uc010tnv.1_Missense_Mutation_p.T343K|CPNE6_uc001wlm.2_Missense_Mutation_p.T113K|CPNE6_uc001wln.2_5'UTR	p.T288K	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	962	+			288					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.863C>A	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007782	0.07866	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.05580	3.42;3.43;3.43	5.1	4.22	0.49857	.	0.000000	0.53938	D	0.000048	T	0.01454	0.0047	N	0.00554	-1.385	0.37610	D	0.920908	B;B	0.18741	0.03;0.01	B;B	0.12156	0.007;0.003	T	0.35699	-0.9778	10	0.02654	T	1	-27.1252	6.6168	0.22780	0.1758:0.7346:0.0:0.0896	.	343;288	F5GXN1;O95741	.;CPNE6_HUMAN	K	343;288;288	ENSP00000440077:T343K;ENSP00000380211:T288K;ENSP00000216775:T288K	ENSP00000216775:T288K	T	+	2	0	CPNE6	23614639	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.031000	0.57267	1.383000	0.46405	-0.244000	0.11960	ACG		PASS	0.532	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5		Missense_Mutation	6	18	6	18	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31602498	31602498	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:31602498C>G	ENST00000399332.1	-	24	4356	c.3868G>C	c.(3868-3870)Gat>Cat	p.D1290H	HECTD1_ENST00000553700.1_Missense_Mutation_p.D1290H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1290	MIB/HERC2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.D1290H(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCATCCTGATCTCGCCATTTC	0.483																																						uc001wrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(3868-3870)GAT>CAT		HECT domain containing 1							88.0	87.0	87.0					14																	31602498		1964	4162	6126	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602498C>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3868G>C	14.37:g.31602498C>G	ENSP00000382269:p.Asp1290His					HECTD1_uc001wrd.1_Missense_Mutation_p.D805H	p.D1290H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	24	4357	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1290			MIB/HERC2.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3868G>C	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.945805|4.945805	0.92593|0.92593	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000557369	T;T;T|.	0.51071|.	0.72;0.72;1.0|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Mib-herc2 (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.83653|0.83653	0.5301|0.5301	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.983;0.998|.	D|D	0.84248|0.84248	0.0476|0.0476	10|5	0.87932|.	D|.	0|.	-14.4468|-14.4468	20.1195|20.1195	0.97955|0.97955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1290;1290|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	H|T	1290;1292;1290;764|120	ENSP00000450697:D1290H;ENSP00000382269:D1290H;ENSP00000451860:D764H|.	ENSP00000261312:D1292H|.	D|R	-|-	1|2	0|0	HECTD1|HECTD1	30672249|30672249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.469000|7.469000	0.80959|0.80959	2.759000|2.759000	0.94783|0.94783	0.650000|0.650000	0.86243|0.86243	GAT|AGA		PASS	0.483	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			10	76	10	76	---	---	---	---
SLC35F4	341880	broad.mit.edu	37	14	58060795	58060795	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:58060795G>A	ENST00000339762.6	-	2	258	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	SLC35F4_ENST00000556826.1_Missense_Mutation_p.P51S|SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000554729.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	87					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.P87S(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTGAACTGGGGCAGTTGGCT	0.483																																						uc001xdb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(259-261)CCC>TCC		solute carrier family 35, member F4							75.0	76.0	75.0					14																	58060795		1948	4147	6095	SO:0001583	missense	341880							g.chr14:58060795G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.259C>T	14.37:g.58060795G>A	ENSP00000342518:p.Pro87Ser					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	p.P87S	NM_001080455	NP_001073924					2	259	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.259C>T		.	.	.	.	.	.	.	.	.	.	G	15.14	2.743665	0.49151	.	.	ENSG00000151812	ENST00000556826;ENST00000339762	T;T	0.47869	0.97;0.83	5.83	1.82	0.25136	.	0.343572	0.30538	N	0.009410	T	0.31513	0.0799	L	0.29908	0.895	0.38716	D	0.953335	B	0.12630	0.006	B	0.10450	0.005	T	0.13710	-1.0499	10	0.66056	D	0.02	-4.3624	6.3597	0.21420	0.2047:0.1336:0.6618:0.0	.	87	A4IF30	S35F4_HUMAN	S	51;87	ENSP00000452086:P51S;ENSP00000342518:P87S	ENSP00000342518:P87S	P	-	1	0	SLC35F4	57130548	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.367000	0.44213	0.398000	0.25338	0.585000	0.79938	CCC		PASS	0.483	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		24	38	24	38	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63483642	63483642	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:63483642A>T	ENST00000322893.7	-	2	372	c.104T>A	c.(103-105)aTt>aAt	p.I35N	KCNH5_ENST00000394964.2_De_novo_Start_OutOfFrame|KCNH5_ENST00000420622.2_Missense_Mutation_p.I35N|KCNH5_ENST00000394968.1_De_novo_Start_OutOfFrame	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	35	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.I35N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCAATCCACAATCTGGGCATT	0.378																																						uc001xfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(103-105)ATT>AAT		potassium voltage-gated channel, subfamily H,							92.0	85.0	88.0					14																	63483642		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63483642A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.104T>A	14.37:g.63483642A>T	ENSP00000321427:p.Ile35Asn					KCNH5_uc001xfy.2_Missense_Mutation_p.I35N|KCNH5_uc001xfz.1_Translation_Start_Site|KCNH5_uc001xga.2_Translation_Start_Site	p.I35N	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	2	155	-			35			Cytoplasmic (Potential).|PAS.		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.104T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614423	0.87359	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98996	-5.31;-5.1	5.29	5.29	0.74685	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.988;0.998	D	0.99568	1.0970	10	0.87932	D	0	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	35;35	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	N	35	ENSP00000321427:I35N;ENSP00000395439:I35N	ENSP00000321427:I35N	I	-	2	0	KCNH5	62553395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.008000	0.58898	0.482000	0.46254	ATT		PASS	0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		40	86	40	86	---	---	---	---
GPHB5	122876	broad.mit.edu	37	14	63784564	63784564	+	RNA	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:63784564G>T	ENST00000539258.1	-	0	56							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CCAGCTTCATGCTGCTCTTCC	0.562																																						uc010apu.2																			0				breast(1)	1						c.e1-1		glycoprotein beta 5							34.0	36.0	35.0					14																	63784564		2010	4179	6189			122876					extracellular region	hormone activity	g.chr14:63784564G>T	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784564G>T						GPHB5_uc001xgc.2_Splice_Site	p.M1_splice	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	1	1	-								Q6NTD0|Q8NFW2	Splice_Site	SNP	ENST00000539258.1	37	c.1_splice																																																																																					PASS	0.562	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		14	18	14	18	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71555146	71555146	+	Splice_Site	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:71555146A>T	ENST00000304743.2	+	29	5883	c.5437A>T	c.(5437-5439)Agt>Tgt	p.S1813C	PCNX_ENST00000439984.3_Splice_Site_p.S1702C|PCNX_ENST00000238570.5_Splice_Site_p.S1741C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1813						integral component of membrane (GO:0016021)		p.S1813C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATATGTCCAGGTAAAGAAG	0.438																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5437-5439)AGT>TGT		pecanex-like 1							120.0	100.0	107.0					14																	71555146		2203	4300	6503	SO:0001630	splice_region_variant	22990					integral to membrane		g.chr14:71555146A>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5438+1A>T	14.37:g.71555146A>T						PCNX_uc010are.1_Missense_Mutation_p.S1702C|PCNX_uc010arf.1_Missense_Mutation_p.S601C	p.S1813C	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	29	5883	+			1813					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5437A>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075987	0.76415	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.44881	0.91;0.91;0.91	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	L	0.47716	1.5	0.45076	D	0.99809	D;B;P	0.76494	0.999;0.115;0.842	D;B;P	0.81914	0.995;0.066;0.662	T	0.55704	-0.8099	10	0.42905	T	0.14	.	14.9568	0.71120	1.0:0.0:0.0:0.0	.	1741;1702;1813	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	C	1813;1741;1702	ENSP00000304192:S1813C;ENSP00000238570:S1741C;ENSP00000396617:S1702C	ENSP00000238570:S1741C	S	+	1	0	PCNX	70624899	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.529000	0.90602	2.124000	0.65301	0.528000	0.53228	AGT		PASS	0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	Missense_Mutation	18	62	18	62	---	---	---	---
ALDH6A1	4329	broad.mit.edu	37	14	74539005	74539005	+	Silent	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:74539005A>T	ENST00000553458.1	-	4	347	c.249T>A	c.(247-249)atT>atA	p.I83I	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Silent_p.I83I|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	83					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.I83I(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TGCAGGAAGCAATGGCTGCAT	0.488																																						uc001xpo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(247-249)ATT>ATA		aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)						78.0	69.0	72.0					14																	74539005		2203	4300	6503	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74539005A>T	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.249T>A	14.37:g.74539005A>T						C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.I83I	p.I83I	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	348	-			83					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.249T>A	CCDS9826.1																																																																																				PASS	0.488	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			25	46	25	46	---	---	---	---
EIF2B2	8892	broad.mit.edu	37	14	75471540	75471540	+	Silent	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:75471540C>G	ENST00000266126.5	+	4	614	c.534C>G	c.(532-534)ctC>ctG	p.L178L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	178					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L178L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGGCCTTCCTCAAAGAGGCTG	0.493																																						uc001xrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)CTC>CTG		eukaryotic translation initiation factor 2B,							86.0	85.0	86.0					14																	75471540		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75471540C>G		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.534C>G	14.37:g.75471540C>G							p.L178L	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	4	616	+			178					O43201	Silent	SNP	ENST00000266126.5	37	c.534C>G	CCDS9836.1																																																																																				PASS	0.493	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		47	68	47	68	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513760	75513760	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:75513760C>G	ENST00000556740.1	-	1	2634	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.E867Q|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.E867Q|MLH3_ENST00000238662.7_Missense_Mutation_p.E867Q|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	867					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.E867Q(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GATGACTTCTCAAGGTCCAAA	0.393								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2599-2601)GAG>CAG	MMR	mutL homolog 3 isoform 1							106.0	113.0	110.0					14																	75513760		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513760C>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2599G>C	14.37:g.75513760C>G	ENSP00000452316:p.Glu867Gln					MLH3_uc001xre.1_Missense_Mutation_p.E867Q|MLH3_uc010tuy.1_RNA	p.E867Q	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2815	-			867					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2599G>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	5.971	0.363202	0.11296	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80214	-1.31;-1.3;-1.35;-1.31	5.92	3.08	0.35506	.	0.892284	0.09905	N	0.740557	T	0.65270	0.2675	L	0.38175	1.15	0.09310	N	1	P;B	0.41848	0.763;0.038	B;B	0.34242	0.178;0.01	T	0.56159	-0.8025	10	0.33940	T	0.23	-0.4806	2.353	0.04288	0.1212:0.4891:0.1178:0.2719	.	867;867	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Q	867	ENSP00000348020:E867Q;ENSP00000238662:E867Q;ENSP00000451540:E867Q;ENSP00000452316:E867Q	ENSP00000238662:E867Q	E	-	1	0	MLH3	74583513	0.001000	0.12720	0.049000	0.19019	0.854000	0.48673	0.448000	0.21726	0.825000	0.34637	0.650000	0.86243	GAG		PASS	0.393	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		42	219	42	219	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94069606	94069606	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:94069606A>T	ENST00000393151.2	+	26	3596	c.3596A>T	c.(3595-3597)aAt>aTt	p.N1199I	UNC79_ENST00000555664.1_Missense_Mutation_p.N1199I|UNC79_ENST00000553484.1_Missense_Mutation_p.N1199I|UNC79_ENST00000256339.4_Missense_Mutation_p.N1022I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1199					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1199I(1)|p.N1022I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGAGGACCAATGTTGCTAAC	0.463																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3064-3066)AAT>ATT		hypothetical protein LOC57578							171.0	161.0	165.0					14																	94069606		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069606A>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3596A>T	14.37:g.94069606A>T	ENSP00000376858:p.Asn1199Ile					KIAA1409_uc001ybs.1_Missense_Mutation_p.N1022I	p.N1022I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	23	3148	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1199					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3065A>T		.	.	.	.	.	.	.	.	.	.	A	21.1	4.104310	0.76983	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20200	2.15;2.15;2.09;2.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.31926	0.97	0.53688	D	0.999978	D	0.76494	0.999	D	0.83275	0.996	T	0.14615	-1.0466	10	0.87932	D	0	-25.7616	16.3245	0.82970	1.0:0.0:0.0:0.0	.	1199	C9JQL1	.	I	1022;1199;1199;1199;1199	ENSP00000256339:N1022I;ENSP00000450868:N1199I;ENSP00000451360:N1199I;ENSP00000376858:N1199I	ENSP00000256339:N1022I	N	+	2	0	KIAA1409	93139359	1.000000	0.71417	0.982000	0.44146	0.929000	0.56500	9.339000	0.96797	2.254000	0.74563	0.460000	0.39030	AAT		PASS	0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		56	146	56	146	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103410592	103410592	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:103410592C>T	ENST00000361246.2	-	30	4332	c.4044G>A	c.(4042-4044)gtG>gtA	p.V1348V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.V1348V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCAGCCGTTTCACGGCCACAA	0.557																																						uc001ymi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(4042-4044)GTG>GTA		CDC42-binding protein kinase beta							62.0	59.0	60.0					14																	103410592		2203	4299	6502	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410592C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4044G>A	14.37:g.103410592C>T						CDC42BPB_uc001ymj.1_Silent_p.V450V	p.V1348V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4276	-		Melanoma(154;0.155)	1348			CNH.			Silent	SNP	ENST00000361246.2	37	c.4044G>A	CCDS9978.1																																																																																				PASS	0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		8	62	8	62	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104251219	104251219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:104251219C>A	ENST00000202556.9	-	3	472	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	64					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E64*(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGAAGATGTTCGTACATCATA	0.398																																						uc001yof.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(190-192)GAA>TAA		apoptosis-stimulating protein of p53, 1							85.0	82.0	83.0					14																	104251219		1843	4087	5930	SO:0001587	stop_gained	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104251219C>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.190G>T	14.37:g.104251219C>A	ENSP00000202556:p.Glu64*					PPP1R13B_uc001yog.1_5'UTR	p.E64*	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			3	473	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	64					B2RMX5|O94870	Nonsense_Mutation	SNP	ENST00000202556.9	37	c.190G>T	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867259	0.97043	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	.	.	.	5.75	5.75	0.90469	.	0.046760	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5333	0.95239	0.0:1.0:0.0:0.0	.	.	.	.	X	64;61;93	.	ENSP00000202556:E64X	E	-	1	0	PPP1R13B	103320972	1.000000	0.71417	0.929000	0.37066	0.900000	0.52787	7.083000	0.76859	2.720000	0.93068	0.563000	0.77884	GAA		PASS	0.398	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		26	93	26	93	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106322129	106322129	+	RNA	SNP	G	G	T	rs375883362	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:106322129G>T	ENST00000390559.2	-	0	194				hsa-mir-4538_ENST00000581318.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.1_ENST00000581354.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.4_ENST00000581720.1_RNA|AL122127.2_ENST00000581918.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGGTGGCTGCGTACTTGCCCC	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							92.0	91.0	91.0					14																	106322129		2057	4192	6249			8755							g.chr14:106322129G>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322129G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3598		-								P20769	RNA	SNP	ENST00000390559.2	37	c.55357C>A																																																																																					PASS	0.557	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		21	32	21	32	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811655	23811655	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:23811655G>T	ENST00000314520.3	+	1	1202	c.726G>T	c.(724-726)cgG>cgT	p.R242R	MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	242					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R242R(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGGTTGCGGTTTTGCTATT	0.587																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(724-726)CGG>CGT		makorin ring finger protein 3							93.0	98.0	96.0					15																	23811655		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811655G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.726G>T	15.37:g.23811655G>T						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.R242R	p.R242R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1202	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	242			C3H1-type 2.			Silent	SNP	ENST00000314520.3	37	c.726G>T	CCDS10013.1																																																																																				PASS	0.587	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		27	20	27	20	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931488	23931488	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:23931488G>C	ENST00000331837.4	-	1	962	c.877C>G	c.(877-879)Cga>Gga	p.R293G		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	293	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R293G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCTCTGTATCGGGAGGGCCAG	0.587									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CGA>GGA		necdin							31.0	35.0	34.0					15																	23931488		2202	4295	6497	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931488G>C	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.877C>G	15.37:g.23931488G>C	ENSP00000332643:p.Arg293Gly						p.R293G	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	963	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	293			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.877C>G	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844072	0.51164	.	.	ENSG00000182636	ENST00000331837	T	0.02236	4.38	3.5	-1.99	0.07457	.	0.332081	0.26776	N	0.022548	T	0.01765	0.0056	L	0.32530	0.975	0.28602	N	0.909098	D	0.53151	0.958	B	0.43754	0.43	T	0.50320	-0.8842	10	0.25106	T	0.35	.	5.6575	0.17650	0.1055:0.0:0.3395:0.555	.	293	Q99608	NECD_HUMAN	G	293	ENSP00000332643:R293G	ENSP00000332643:R293G	R	-	1	2	NDN	21482581	0.774000	0.28592	0.663000	0.29738	0.973000	0.67179	0.368000	0.20399	-0.387000	0.07809	0.561000	0.74099	CGA		PASS	0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		53	39	53	39	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931639	23931639	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:23931639C>T	ENST00000331837.4	-	1	811	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	242	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M242I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCAGGTAATTCATTTGGACGA	0.592									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)ATG>ATA		necdin							42.0	40.0	41.0					15																	23931639		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931639C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.726G>A	15.37:g.23931639C>T	ENSP00000332643:p.Met242Ile						p.M242I	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	812	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	242			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.726G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373003	0.42105	.	.	ENSG00000182636	ENST00000331837	T	0.04603	3.59	3.36	3.36	0.38483	.	0.138691	0.49305	D	0.000146	T	0.04048	0.0113	N	0.24115	0.695	0.21652	N	0.9996	B	0.06786	0.001	B	0.06405	0.002	T	0.33828	-0.9853	10	0.87932	D	0	.	10.5055	0.44832	0.0:1.0:0.0:0.0	.	242	Q99608	NECD_HUMAN	I	242	ENSP00000332643:M242I	ENSP00000332643:M242I	M	-	3	0	NDN	21482732	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.651000	0.24873	2.169000	0.68431	0.561000	0.74099	ATG		PASS	0.592	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		30	30	30	30	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26812811	26812811	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:26812811T>C	ENST00000311550.5	-	7	863	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	GABRB3_ENST00000400188.3_Missense_Mutation_p.Y180C|GABRB3_ENST00000541819.2_Missense_Mutation_p.Y307C|GABRB3_ENST00000545868.1_Missense_Mutation_p.Y166C|GABRB3_ENST00000299267.4_Missense_Mutation_p.Y251C	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	251					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.Y251C(2)|p.Y307C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGGGCATATAAGTCTGAAG	0.433																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(751-753)TAT>TGT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						135.0	113.0	121.0					15																	26812811		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812811T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.752A>G	15.37:g.26812811T>C	ENSP00000308725:p.Tyr251Cys					GABRB3_uc010uae.1_Missense_Mutation_p.Y166C|GABRB3_uc001zba.2_Missense_Mutation_p.Y251C|GABRB3_uc001zbb.2_Missense_Mutation_p.Y307C	p.Y251C	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	894	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	251			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.752A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652893	0.67472	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.96996	3.92	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	0.97757	1.0218	10	0.87932	D	0	.	15.7938	0.78394	0.0:0.0:0.0:1.0	.	307;251;251	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	C	251;307;251;180;166	ENSP00000308725:Y251C;ENSP00000442408:Y307C;ENSP00000299267:Y251C;ENSP00000383049:Y180C;ENSP00000439169:Y166C	ENSP00000299267:Y251C	Y	-	2	0	GABRB3	24363904	1.000000	0.71417	0.993000	0.49108	0.435000	0.31806	7.926000	0.87569	2.322000	0.78497	0.528000	0.53228	TAT		PASS	0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			37	26	37	26	---	---	---	---
FBXL22	283807	broad.mit.edu	37	15	63893515	63893515	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:63893515C>A	ENST00000360587.2	+	2	414	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	FBXL22_ENST00000539570.3_Missense_Mutation_p.P119Q|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	125					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.P119Q(1)		lung(4)	4						GTGCGCTCCCCACGGAGGCGG	0.612																																						uc002amn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CCA>CAA		F-box and leucine-rich repeat protein 22							23.0	27.0	26.0					15																	63893515		2143	4161	6304	SO:0001583	missense	283807							g.chr15:63893515C>A	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.374C>A	15.37:g.63893515C>A	ENSP00000353794:p.Pro125Gln					uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank	p.P119Q	NM_203373	NP_976307	Q6P050	FXL22_HUMAN			2	370	+			119						Missense_Mutation	SNP	ENST00000360587.2	37	c.356C>A	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	c	2.095	-0.407344	0.04832	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.55234	0.53;0.55	0.864	-1.73	0.08081	.	0.834533	0.10501	N	0.667320	T	0.23410	0.0566	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.08911	-1.0699	10	0.26408	T	0.33	-13.1241	0.2793	0.00242	0.2248:0.2496:0.2883:0.2372	.	119	Q6P050	FXL22_HUMAN	Q	125;119	ENSP00000353794:P125Q;ENSP00000442112:P119Q	ENSP00000353794:P125Q	P	+	2	0	FBXL22	61680568	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.934000	0.00686	-1.856000	0.01161	-0.887000	0.02937	CCA		PASS	0.612	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		30	27	30	27	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66727571	66727571	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:66727571G>A	ENST00000307102.5	+	2	818	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.R96K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GTCATGGCCAGAAAGGTGAGT	0.493																																						uc010bhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)AGA>AAA		mitogen-activated protein kinase kinase 1							94.0	87.0	89.0					15																	66727571		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727571G>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.287G>A	15.37:g.66727571G>A	ENSP00000302486:p.Arg96Lys					MAP2K1_uc010ujp.1_Missense_Mutation_p.R74K	p.R96K	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			2	762	+			96			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.287G>A	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967034	0.74131	.	.	ENSG00000169032	ENST00000307102	T	0.28454	1.61	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066303	0.85682	D	0.000000	T	0.22437	0.0541	N	0.04373	-0.215	0.80722	D	1	B;B	0.33919	0.432;0.339	P;B	0.45712	0.491;0.226	T	0.05920	-1.0856	10	0.06494	T	0.89	-17.8887	17.8302	0.88680	0.0:0.0:1.0:0.0	.	74;96	B4DFY5;Q02750	.;MP2K1_HUMAN	K	96	ENSP00000302486:R96K	ENSP00000302486:R96K	R	+	2	0	MAP2K1	64514625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.723000	0.98772	2.443000	0.82685	0.591000	0.81541	AGA		PASS	0.493	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			67	66	67	66	---	---	---	---
CERS3	204219	broad.mit.edu	37	15	101009683	101009683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr15:101009683T>A	ENST00000394113.1	-	12	1435	c.745A>T	c.(745-747)Aag>Tag	p.K249*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.K249*|CERS3_ENST00000284382.4_Nonsense_Mutation_p.K249*|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	249	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.K249*(1)									GAAAACATCTTAGCAGACTGC	0.363																																						uc002bvz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(745-747)AAG>TAG		LAG1 longevity assurance homolog 3							69.0	70.0	70.0					15																	101009683		2203	4300	6503	SO:0001587	stop_gained	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101009683T>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.745A>T	15.37:g.101009683T>A	ENSP00000377672:p.Lys249*					LASS3_uc002bwa.2_Nonsense_Mutation_p.K260*|LASS3_uc002bwb.2_Nonsense_Mutation_p.K249*	p.K249*	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		11	1247	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		249			TLC.		Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	c.745A>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	T	42	9.467844	0.99180	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.69	5.69	0.88448	.	0.099241	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8038	15.2293	0.73374	0.0:0.0:0.0:1.0	.	.	.	.	X	249;260;249	.	ENSP00000284382:K249X	K	-	1	0	CERS3	98827206	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.849000	0.75414	2.291000	0.77112	0.533000	0.62120	AAG		PASS	0.363	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		46	59	46	59	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2106196	2106196	+	Splice_Site	SNP	G	G	T	rs45517117		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:2106196G>T	ENST00000219476.3	+	7	1229		c.e7-1		TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000401874.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.?(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTCCCTGCAGGATGATCTGT	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Unknown(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10	GRCh37	CS992719	TSC2	S	rs45517117	c.e7-1		tuberous sclerosis 2 isoform 1							100.0	81.0	87.0					16																	2106196		2198	4300	6498	SO:0001630	splice_region_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2106196G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.600-1G>T	16.37:g.2106196G>T						TSC2_uc010bsd.2_Splice_Site_p.Q200_splice|TSC2_uc002coo.2_Splice_Site_p.Q200_splice|TSC2_uc010uvv.1_Splice_Site_p.Q163_splice|TSC2_uc010uvw.1_Splice_Site_p.Q151_splice|TSC2_uc002cop.2_Splice_Site	p.Q200_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN			7	706	+		Hepatocellular(780;0.0202)						A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37	c.600_splice	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958570	0.34565	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4167	0.90572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2046197	1.000000	0.71417	0.991000	0.47740	0.064000	0.16182	8.280000	0.89903	2.360000	0.80028	0.655000	0.94253	.		PASS	0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	20	30	20	30	---	---	---	---
PAM16	51025	broad.mit.edu	37	16	4391372	4391372	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:4391372C>T	ENST00000318059.3	-	3	359	c.222G>A	c.(220-222)caG>caA	p.Q74Q	PAM16_ENST00000575848.1_Silent_p.Q86Q|PAM16_ENST00000573553.1_Silent_p.Q94Q|PAM16_ENST00000577031.1_Silent_p.Q74Q|PAM16_ENST00000571941.1_Silent_p.Q94Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.Q997Q|PAM16_ENST00000576217.1_Silent_p.Q74Q	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	74	J-like.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)		p.Q74Q(1)		lung(3)	3						GCCTCACCTTCTGGACCTCCT	0.637																																						uc002cwf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2989-2991)CAG>CAA		coronin 7							31.0	27.0	28.0					16																	4391372		2180	4290	6470	SO:0001819	synonymous_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4391372C>T	AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.222G>A	16.37:g.4391372C>T						CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Silent_p.Q74Q	p.Q997Q	NM_024535	NP_078811	P57737	CORO7_HUMAN			29	3434	-			Error:Variant_position_missing_in_P57737_after_alignment					Q6I9Z3|Q9H5X3	Silent	SNP	ENST00000318059.3	37	c.2991G>A	CCDS10512.1																																																																																				PASS	0.637	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069		5	5	5	5	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20803421	20803421	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:20803421C>T	ENST00000289416.5	+	11	1899	c.1424C>T	c.(1423-1425)gCa>gTa	p.A475V	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.A467V|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	475					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.A475V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGTTTGTTGCAAGAGCAGAT	0.393																																						uc002dhr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1423-1425)GCA>GTA		SA hypertension-associated homolog isoform 1							247.0	236.0	239.0					16																	20803421		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20803421C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1424C>T	16.37:g.20803421C>T	ENSP00000289416:p.Ala475Val					ACSM3_uc010vba.1_Missense_Mutation_p.A504V|ERI2_uc002dhs.2_Intron	p.A475V	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			11	1611	+			475					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1424C>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972482	0.74246	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.40756	1.02;1.02	5.59	2.25	0.28309	AMP-dependent synthetase/ligase (1);	0.262602	0.35378	N	0.003254	T	0.48021	0.1477	L	0.48362	1.52	0.29453	N	0.858345	P;B	0.39131	0.661;0.433	P;B	0.48488	0.579;0.375	T	0.56866	-0.7908	10	0.87932	D	0	-3.7372	16.0566	0.80812	0.0:0.4903:0.5097:0.0	.	467;475	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	V	475;467	ENSP00000289416:A475V;ENSP00000395297:A467V	ENSP00000289416:A475V	A	+	2	0	ACSM3	20710922	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.580000	0.53907	1.333000	0.45449	0.650000	0.86243	GCA		PASS	0.393	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		86	123	86	123	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47493054	47493054	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:47493054T>C	ENST00000320640.6	-	2	469	c.241A>G	c.(241-243)Aat>Gat	p.N81D	PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000323584.5_5'Flank|PHKB_ENST00000299167.8_5'Flank|ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	81						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N81D(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TAGGGTGCATTCTGGTCTGCC	0.269																																						uc002eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(241-243)AAT>GAT		integrin alpha FG-GAP repeat containing 1							58.0	66.0	63.0					16																	47493054		2201	4298	6499	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47493054T>C	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.241A>G	16.37:g.47493054T>C	ENSP00000319918:p.Asn81Asp					ITFG1_uc010vgh.1_5'UTR|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'UTR	p.N81D	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			2	303	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	81					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.241A>G	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	T	8.469	0.857156	0.17106	.	.	ENSG00000129636	ENST00000320640	T	0.21361	2.01	5.04	5.04	0.67666	.	0.332861	0.28470	N	0.015239	T	0.07052	0.0179	N	0.02539	-0.55	0.80722	D	1	B	0.22211	0.066	B	0.18871	0.023	T	0.21690	-1.0238	10	0.07644	T	0.81	-14.7362	8.6365	0.33950	0.0:0.0857:0.0:0.9143	.	81	Q8TB96	TIP_HUMAN	D	81	ENSP00000319918:N81D	ENSP00000319918:N81D	N	-	1	0	ITFG1	46050555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	1.885000	0.54596	0.533000	0.62120	AAT		PASS	0.269	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		27	135	27	135	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51173329	51173329	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:51173329G>C	ENST00000251020.4	-	2	2837	c.2804C>G	c.(2803-2805)aCg>aGg	p.T935R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T838R|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	935					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T935R(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACTCCTGCGTGCTGTTGGA	0.567																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(2803-2805)ACG>AGG		sal-like 1 isoform a							90.0	74.0	80.0					16																	51173329		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173329G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2804C>G	16.37:g.51173329G>C	ENSP00000251020:p.Thr935Arg					SALL1_uc010vgr.1_Missense_Mutation_p.T838R|SALL1_uc010cbv.2_Intron	p.T935R	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2835	-		all_cancers(37;0.0322)	935					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2804C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	5.130	0.209544	0.09757	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.77750	-1.12;-1.12	5.46	5.46	0.80206	.	0.430060	0.27349	N	0.019774	T	0.68063	0.2960	L	0.40543	1.245	0.39807	D	0.97265	B	0.34313	0.448	B	0.33846	0.171	T	0.65450	-0.6165	10	0.15066	T	0.55	.	13.5899	0.61953	0.0744:0.0:0.9255:0.0	.	935	Q9NSC2	SALL1_HUMAN	R	935;838;899	ENSP00000251020:T935R;ENSP00000407914:T838R	ENSP00000251020:T935R	T	-	2	0	SALL1	49730830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.000000	0.49481	2.557000	0.86248	0.455000	0.32223	ACG		PASS	0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		58	77	58	77	---	---	---	---
DUS2	54920	broad.mit.edu	37	16	68090271	68090271	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:68090271A>T	ENST00000565263.1	+	7	807	c.313A>T	c.(313-315)Aat>Tat	p.N105Y	DUS2_ENST00000432752.1_Intron|DUS2_ENST00000358896.6_Missense_Mutation_p.N105Y|AC130462.1_ENST00000408862.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	105					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.N105Y(1)									TTCCAGAGAAAATGATGTGGC	0.388																																						uc002evi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AAT>TAT		dihydrouridine synthase 2-like, SMM1 homolog							129.0	124.0	126.0					16																	68090271		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68090271A>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.313A>T	16.37:g.68090271A>T	ENSP00000455229:p.Asn105Tyr					DUS2L_uc002evj.2_Missense_Mutation_p.N105Y|DUS2L_uc010vkk.1_Intron|DUS2L_uc010cez.2_Missense_Mutation_p.N18Y	p.N105Y	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	7	462	+		Ovarian(137;0.192)	105					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.313A>T	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329010	0.41197	.	.	ENSG00000167264	ENST00000358896	T	0.31769	1.48	5.6	5.6	0.85130	Aldolase-type TIM barrel (1);	0.311877	0.31415	N	0.007686	T	0.38081	0.1027	M	0.76002	2.32	0.80722	D	1	B	0.18741	0.03	B	0.25759	0.063	T	0.28933	-1.0028	10	0.72032	D	0.01	-31.3702	13.3063	0.60355	1.0:0.0:0.0:0.0	.	105	Q9NX74	DUS2L_HUMAN	Y	105	ENSP00000351769:N105Y	ENSP00000351769:N105Y	N	+	1	0	DUS2L	66647772	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.485000	0.81204	2.139000	0.66308	0.455000	0.32223	AAT		PASS	0.388	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		67	84	67	84	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68224873	68224873	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:68224873G>T	ENST00000346183.3	+	9	2325	c.2301G>T	c.(2299-2301)ttG>ttT	p.L767F	NFATC3_ENST00000575270.1_Missense_Mutation_p.L767F|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.L767F|NFATC3_ENST00000349223.5_Missense_Mutation_p.L767F	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	767					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L767F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGCCACAGTTGCAGTGTAGAG	0.458																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(2299-2301)TTG>TTT		nuclear factor of activated T-cells,							166.0	142.0	150.0					16																	68224873		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68224873G>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2301G>T	16.37:g.68224873G>T	ENSP00000300659:p.Leu767Phe					NFATC3_uc010vkl.1_Missense_Mutation_p.L288F|NFATC3_uc010vkm.1_Missense_Mutation_p.L288F|NFATC3_uc010vkn.1_Missense_Mutation_p.L288F|NFATC3_uc010vko.1_Missense_Mutation_p.L288F|NFATC3_uc010vkp.1_Missense_Mutation_p.L288F|NFATC3_uc010vkq.1_Missense_Mutation_p.L288F|NFATC3_uc002evl.2_Missense_Mutation_p.L288F|NFATC3_uc002evk.2_Missense_Mutation_p.L767F|NFATC3_uc002evm.1_Missense_Mutation_p.L767F|NFATC3_uc002evn.1_Missense_Mutation_p.L767F|NFATC3_uc010vkr.1_Missense_Mutation_p.L288F|NFATC3_uc010vks.1_Missense_Mutation_p.L288F|NFATC3_uc010vkt.1_Missense_Mutation_p.L288F|NFATC3_uc010vku.1_Missense_Mutation_p.L288F|NFATC3_uc010vkv.1_Missense_Mutation_p.L288F|NFATC3_uc010vkw.1_Missense_Mutation_p.L288F|NFATC3_uc010vkx.1_Missense_Mutation_p.L288F|NFATC3_uc010vky.1_Missense_Mutation_p.L288F|NFATC3_uc010vkz.1_Missense_Mutation_p.L288F|NFATC3_uc010vla.1_Missense_Mutation_p.L288F|NFATC3_uc010vlb.1_Missense_Mutation_p.L288F|NFATC3_uc010vlc.1_Missense_Mutation_p.L288F	p.L767F	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2511	+		Ovarian(137;0.0563)	767					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2301G>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746721	0.49257	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.13089	2.62;2.64;2.63	5.55	2.48	0.30137	.	0.233267	0.36303	N	0.002661	T	0.17619	0.0423	L	0.54323	1.7	0.40239	D	0.977937	P;D;P;P	0.54772	0.933;0.968;0.933;0.933	B;P;B;B	0.51355	0.386;0.667;0.386;0.386	T	0.02326	-1.1176	10	0.49607	T	0.09	-3.25	5.1803	0.15156	0.205:0.0:0.5614:0.2337	.	767;767;767;767	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	F	767;767;767;288	ENSP00000264008:L767F;ENSP00000300659:L767F;ENSP00000331324:L767F	ENSP00000331324:L767F	L	+	3	2	NFATC3	66782374	0.996000	0.38824	1.000000	0.80357	0.917000	0.54804	0.336000	0.19823	0.710000	0.31997	0.557000	0.71058	TTG		PASS	0.458	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		35	183	35	183	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373738	68373738	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:68373738G>T	ENST00000339507.5	+	9	1624	c.794G>T	c.(793-795)aGg>aTg	p.R265M	PRMT7_ENST00000449359.3_Missense_Mutation_p.R215M|PRMT7_ENST00000348497.4_Missense_Mutation_p.R191M|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.R215M			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	265	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R265M(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGCCATAGCAGGCGGTTTGAA	0.507																																						uc002evy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)AGG>ATG		protein arginine methyltransferase 7							89.0	91.0	90.0					16																	68373738		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373738G>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.794G>T	16.37:g.68373738G>T	ENSP00000343103:p.Arg265Met					PRMT7_uc002evx.1_Missense_Mutation_p.R265M|PRMT7_uc010vlg.1_Missense_Mutation_p.R215M|PRMT7_uc002evz.1_Missense_Mutation_p.R111M	p.R265M	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	9	1070	+		Ovarian(137;0.192)	265					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.794G>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285755	0.40394	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.91	-0.264	0.12950	.	0.655088	0.17435	N	0.174323	T	0.13841	0.0335	N	0.25485	0.75	0.09310	N	0.999997	B;B;B;B	0.23854	0.002;0.092;0.021;0.006	B;B;B;B	0.25291	0.012;0.059;0.017;0.012	T	0.17471	-1.0368	10	0.34782	T	0.22	-11.2684	3.9739	0.09465	0.3965:0.0:0.3594:0.2441	.	215;191;265;265	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	M	215;215;191;265	ENSP00000414716:R215M;ENSP00000409324:R215M;ENSP00000345775:R191M;ENSP00000343103:R265M	ENSP00000343103:R265M	R	+	2	0	PRMT7	66931239	0.312000	0.24545	0.968000	0.41197	0.974000	0.67602	0.404000	0.20999	0.060000	0.16281	0.650000	0.86243	AGG		PASS	0.507	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		29	116	29	116	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373740	68373740	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:68373740C>T	ENST00000339507.5	+	9	1626	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	PRMT7_ENST00000449359.3_Missense_Mutation_p.R216W|PRMT7_ENST00000348497.4_Missense_Mutation_p.R192W|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.R216W			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	266	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R266W(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCATAGCAGGCGGTTTGAACC	0.507																																						uc002evy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)CGG>TGG		protein arginine methyltransferase 7							88.0	90.0	89.0					16																	68373740		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373740C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.796C>T	16.37:g.68373740C>T	ENSP00000343103:p.Arg266Trp					PRMT7_uc002evx.1_Missense_Mutation_p.R266W|PRMT7_uc010vlg.1_Missense_Mutation_p.R216W|PRMT7_uc002evz.1_Missense_Mutation_p.R112W	p.R266W	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	9	1072	+		Ovarian(137;0.192)	266					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.796C>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339845	0.95783	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.91	5.91	0.95273	.	0.327174	0.39341	N	0.001395	T	0.31389	0.0795	L	0.39898	1.24	0.41076	D	0.98548	P;D;P;D	0.67145	0.915;0.996;0.921;0.995	P;P;B;P	0.52856	0.471;0.609;0.339;0.711	T	0.00934	-1.1509	10	0.66056	D	0.02	-10.9745	17.7956	0.88568	0.0:1.0:0.0:0.0	.	216;192;266;266	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	W	216;216;192;266	ENSP00000414716:R216W;ENSP00000409324:R216W;ENSP00000345775:R192W;ENSP00000343103:R266W	ENSP00000343103:R266W	R	+	1	2	PRMT7	66931241	0.997000	0.39634	0.996000	0.52242	0.941000	0.58515	1.756000	0.38390	2.799000	0.96334	0.650000	0.86243	CGG		PASS	0.507	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		31	116	31	116	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095228	81095228	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:81095228A>T	ENST00000299578.5	-	4	961	c.726T>A	c.(724-726)gaT>gaA	p.D242E	C16orf46_ENST00000378611.4_Missense_Mutation_p.D242E|C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	242						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D242E(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCTTTTCCACATCCAGCACCT	0.463																																						uc002fgc.3																			2	Substitution - Missense(2)		lung(2)		0						c.(724-726)GAT>GAA		chromosome 16 open reading frame 46 isoform 2							154.0	144.0	147.0					16																	81095228		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095228A>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.726T>A	16.37:g.81095228A>T	ENSP00000299578:p.Asp242Glu					C16orf46_uc010chf.2_Missense_Mutation_p.D242E|C16orf46_uc010vno.1_5'UTR	p.D242E	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	985	-			242					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.726T>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	A	8.239	0.806306	0.16467	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.13901	2.55;2.55	5.69	-3.6	0.04570	.	1.222860	0.05401	N	0.540772	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37150	-0.9718	10	0.23302	T	0.38	.	1.6336	0.02737	0.3725:0.2368:0.2753:0.1154	.	242;242	Q6P387-2;Q6P387	.;CP046_HUMAN	E	242	ENSP00000367874:D242E;ENSP00000299578:D242E	ENSP00000299578:D242E	D	-	3	2	C16orf46	79652729	0.000000	0.05858	0.025000	0.17156	0.078000	0.17371	0.337000	0.19841	-0.451000	0.07097	0.460000	0.39030	GAT		PASS	0.463	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		51	274	51	274	---	---	---	---
BANP	54971	broad.mit.edu	37	16	88066787	88066787	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:88066787A>G	ENST00000393207.1	+	9	1333	c.1112A>G	c.(1111-1113)tAc>tGc	p.Y371C	BANP_ENST00000355022.4_Missense_Mutation_p.Y340C|BANP_ENST00000538234.1_Missense_Mutation_p.Y379C|BANP_ENST00000479780.2_Missense_Mutation_p.Y340C|BANP_ENST00000286122.7_Missense_Mutation_p.Y371C|BANP_ENST00000393208.2_Missense_Mutation_p.Y340C|BANP_ENST00000355163.5_Missense_Mutation_p.Y346C	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	371	DNA-binding. {ECO:0000250}.|Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y371C(1)|p.Y340C(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCCTGCACTACGCGCTGGCC	0.642																																						uc002fkr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1108-1110)TAC>TGC		BTG3 associated nuclear protein isoform b							33.0	27.0	29.0					16																	88066787		2197	4299	6496	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88066787A>G	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1112A>G	16.37:g.88066787A>G	ENSP00000376902:p.Tyr371Cys					BANP_uc002fkp.2_Missense_Mutation_p.Y340C|BANP_uc002fkq.2_Missense_Mutation_p.Y340C|BANP_uc010vow.1_Missense_Mutation_p.Y378C|BANP_uc002fks.3_Missense_Mutation_p.Y339C|BANP_uc002fko.1_Missense_Mutation_p.Y276C|BANP_uc010vov.1_Missense_Mutation_p.Y345C	p.Y370C	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	9	1333	+			371			DNA-binding (By similarity).|Gln-rich.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1109A>G	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646165	0.47258	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	L	0.46157	1.445	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.998;1.0	D;D;D;D;D;D	0.91635	0.993;0.998;0.984;0.997;0.993;0.999	T	0.71692	-0.4516	9	0.72032	D	0.01	.	12.8847	0.58036	1.0:0.0:0.0:0.0	.	379;346;340;371;340;340	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	C	371;346;336;340;340;340;340;379;371	.	ENSP00000286122:Y371C	Y	+	2	0	BANP	86624288	1.000000	0.71417	0.995000	0.50966	0.013000	0.08279	8.061000	0.89467	1.707000	0.51288	0.254000	0.18369	TAC		PASS	0.642	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		10	10	10	10	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	37	37	37	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8161209	8161209	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:8161209A>G	ENST00000314666.6	+	10	1293	c.1160A>G	c.(1159-1161)aAt>aGt	p.N387S	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	387					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.N387S(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GAAGCCAGTAATGGAGCTTCT	0.572																																						uc002gkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1159-1161)AAT>AGT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						62.0	67.0	65.0					17																	8161209		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8161209A>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1160A>G	17.37:g.8161209A>G	ENSP00000313490:p.Asn387Ser					PFAS_uc010vuv.1_5'UTR	p.N387S	NM_012393	NP_036525	O15067	PUR4_HUMAN			10	1301	+			387					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1160A>G	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740715	0.89573	.	.	ENSG00000178921	ENST00000314666	T	0.29142	1.58	5.79	5.79	0.91817	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.061038	0.85682	D	0.000000	T	0.50154	0.1599	L	0.52823	1.66	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.51228	-0.8732	10	0.87932	D	0	-18.3974	14.0723	0.64868	1.0:0.0:0.0:0.0	.	387	O15067	PUR4_HUMAN	S	387	ENSP00000313490:N387S	ENSP00000313490:N387S	N	+	2	0	PFAS	8101934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.208000	0.89748	2.219000	0.72066	0.459000	0.35465	AAT		PASS	0.572	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			48	33	48	33	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8793402	8793402	+	Silent	SNP	G	G	T	rs150952108	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:8793402G>T	ENST00000447110.1	-	8	823	c.699C>A	c.(697-699)acC>acA	p.T233T	PIK3R5_ENST00000584803.1_Silent_p.T233T|PIK3R5_ENST00000581552.1_Silent_p.T233T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	233				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.T233T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTGCCTCTGCGGTCTCCGTGA	0.627																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(697-699)ACC>ACA		phosphoinositide-3-kinase, regulatory subunit 5							81.0	73.0	76.0					17																	8793402		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8793402G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.699C>A	17.37:g.8793402G>T						PIK3R5_uc010vuz.1_Silent_p.T233T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR	p.T233T	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			8	766	-			233	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.699C>A	CCDS11147.1																																																																																				PASS	0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		44	43	44	43	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10352044	10352044	+	Silent	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:10352044G>T	ENST00000255381.2	-	32	4532	c.4422C>A	c.(4420-4422)tcC>tcA	p.S1474S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1474					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.S1474S(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTCCTTCTGGGAGGCCTCAA	0.443																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4420-4422)TCC>TCA		myosin, heavy polypeptide 4, skeletal muscle							86.0	87.0	87.0					17																	10352044		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352044G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4422C>A	17.37:g.10352044G>T						uc002gml.1_Intron	p.S1474S	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4533	-			1474			Potential.			Silent	SNP	ENST00000255381.2	37	c.4422C>A	CCDS11154.1																																																																																				PASS	0.443	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		49	46	49	46	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10352088	10352088	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:10352088A>T	ENST00000255381.2	-	32	4488	c.4378T>A	c.(4378-4380)Tgg>Agg	p.W1460R	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1460					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.W1460R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGTTTCCATTCTGCCAGA	0.478																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4378-4380)TGG>AGG		myosin, heavy polypeptide 4, skeletal muscle							73.0	75.0	75.0					17																	10352088		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352088A>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4378T>A	17.37:g.10352088A>T	ENSP00000255381:p.Trp1460Arg					uc002gml.1_Intron	p.W1460R	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4489	-			1460			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4378T>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597424	0.46318	.	.	ENSG00000141048	ENST00000255381	T	0.78595	-1.19	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.35677	U	0.003042	D	0.82921	0.5142	M	0.90369	3.11	0.58432	D	0.99999	B	0.21753	0.06	B	0.29077	0.098	T	0.82581	-0.0386	10	0.51188	T	0.08	.	15.037	0.71754	1.0:0.0:0.0:0.0	.	1460	Q9Y623	MYH4_HUMAN	R	1460	ENSP00000255381:W1460R	ENSP00000255381:W1460R	W	-	1	0	MYH4	10292813	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	6.278000	0.72614	2.030000	0.59900	0.402000	0.26972	TGG		PASS	0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	40	34	40	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10551951	10551951	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:10551951G>C	ENST00000583535.1	-	8	745	c.658C>G	c.(658-660)Caa>Gaa	p.Q220E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q220E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	220	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.Q220E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGATGATTTGATCTTCCAGA	0.463																																						uc002gmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(658-660)CAA>GAA		myosin, heavy chain 3, skeletal muscle,							106.0	105.0	106.0					17																	10551951		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10551951G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.658C>G	17.37:g.10551951G>C	ENSP00000464317:p.Gln220Glu						p.Q220E	NM_002470	NP_002461	P11055	MYH3_HUMAN			7	735	-			220			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.658C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322949	0.81580	.	.	ENSG00000109063	ENST00000226209	D	0.87729	-2.29	4.64	4.64	0.57946	Myosin head, motor domain (2);	.	.	.	.	D	0.93884	0.8043	M	0.88181	2.935	0.46586	D	0.999118	D	0.54397	0.966	P	0.61658	0.892	D	0.95003	0.8145	9	0.87932	D	0	.	18.0353	0.89301	0.0:0.0:1.0:0.0	.	220	P11055	MYH3_HUMAN	E	220	ENSP00000226209:Q220E	ENSP00000226209:Q220E	Q	-	1	0	MYH3	10492676	1.000000	0.71417	0.993000	0.49108	0.582000	0.36321	9.657000	0.98554	2.563000	0.86464	0.462000	0.41574	CAA		PASS	0.463	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		51	39	51	39	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319870	21319870	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:21319870C>T	ENST00000583088.1	+	3	2111	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P406S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	406					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.P406S(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGGCCTCAGCCCCCAGGCCAG	0.662										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1216-1218)CCC>TCC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						35.0	36.0	36.0					17																	21319870		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319870C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1216C>T	17.37:g.21319870C>T	ENSP00000463778:p.Pro406Ser	Prostate(3;0.18)					p.P406S	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1921	+			406			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1216C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102220	0.37048	.	.	ENSG00000184185	ENST00000331718	D	0.87029	-2.2	5.83	3.86	0.44501	.	1.126840	0.06521	N	0.739733	T	0.80303	0.4598	L	0.31294	0.92	0.48040	D	0.999574	B	0.02656	0.0	B	0.06405	0.002	T	0.61377	-0.7075	10	0.18276	T	0.48	.	9.0558	0.36405	0.0:0.7792:0.0:0.2208	.	406	Q14500	IRK12_HUMAN	S	406	ENSP00000328150:P406S	ENSP00000328150:P406S	P	+	1	0	KCNJ12	21260463	1.000000	0.71417	0.832000	0.32986	0.883000	0.51084	4.462000	0.60121	0.820000	0.34516	0.655000	0.94253	CCC		PASS	0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	30	9	30	---	---	---	---
AATF	26574	broad.mit.edu	37	17	35343921	35343921	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:35343921A>G	ENST00000225402.5	+	5	1089	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	280	POLR2J binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K280E(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CCCAGGTCACAAGGCACTTAA	0.423																																					NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)AAG>GAG		apoptosis antagonizing transcription factor							162.0	149.0	153.0					17																	35343921		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35343921A>G	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.838A>G	17.37:g.35343921A>G	ENSP00000225402:p.Lys280Glu					AATF_uc002hnj.2_RNA	p.K280E	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			5	1089	+		Breast(25;0.00607)	280			POLR2J binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.838A>G	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449679	0.84101	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.96	5.96	0.96718	.	0.042172	0.85682	D	0.000000	T	0.53514	0.1801	L	0.45228	1.405	0.58432	D	0.999992	B	0.34103	0.437	B	0.41174	0.349	T	0.47686	-0.9098	9	0.09843	T	0.71	-23.8697	15.0157	0.71581	1.0:0.0:0.0:0.0	.	280	Q9NY61	AATF_HUMAN	E	280	.	ENSP00000225402:K280E	K	+	1	0	AATF	32418034	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.855000	0.86950	2.284000	0.76573	0.528000	0.53228	AAG		PASS	0.423	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		106	114	106	114	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40937114	40937114	+	Splice_Site	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:40937114G>C	ENST00000246914.5	+	5	1191		c.e5-1			NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4						chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.G379R(1)|p.?(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCTTCCCCAGGGCAGAAAGC	0.592																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(3)|skin(3)|stomach(1)	7						c.e5-1		WNK lysine deficient protein kinase 4							57.0	53.0	54.0					17																	40937114		2203	4300	6503	SO:0001630	splice_region_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40937114G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1171-1G>C	17.37:g.40937114G>C						WNK4_uc010wgx.1_Intron|WNK4_uc002ibk.1_Splice_Site_p.G163_splice|WNK4_uc010wgy.1_5'Flank	p.G391_splice	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	5	1192	+		Breast(137;0.000143)						B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Splice_Site	SNP	ENST00000246914.5	37	c.1171_splice	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738983	0.89573	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1781	0.89768	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNK4	38190640	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	9.860000	0.99555	2.374000	0.81015	0.555000	0.69702	.		PASS	0.592	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		Intron	8	18	8	18	---	---	---	---
HLF	3131	broad.mit.edu	37	17	53342907	53342907	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:53342907T>C	ENST00000226067.5	+	1	535	c.62T>C	c.(61-63)gTg>gCg	p.V21A	HLF_ENST00000575345.1_5'Flank|HLF_ENST00000573945.1_5'Flank|HLF_ENST00000430986.2_5'Flank	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	21					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V21A(1)		large_intestine(1)|ovary(2)	3						CCCTACGGCGTGCTCAGGTCC	0.607			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(61-63)GTG>GCG		hepatic leukemia factor							38.0	40.0	40.0					17																	53342907		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53342907T>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.62T>C	17.37:g.53342907T>C	ENSP00000226067:p.Val21Ala					HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	p.V21A	NM_002126	NP_002117	Q16534	HLF_HUMAN			1	587	+			21					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.62T>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562071	0.86335	.	.	ENSG00000108924	ENST00000226067	.	.	.	4.08	4.08	0.47627	.	0.000000	0.56097	D	0.000025	T	0.70185	0.3195	M	0.64567	1.98	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.70988	-0.4722	9	0.45353	T	0.12	.	12.256	0.54625	0.0:0.0:0.0:1.0	.	21	Q16534	HLF_HUMAN	A	21	.	ENSP00000226067:V21A	V	+	2	0	HLF	50697906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.981000	0.76166	1.823000	0.53134	0.455000	0.32223	GTG		PASS	0.607	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		7	61	7	61	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55027410	55027410	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:55027410T>C	ENST00000240316.4	-	2	1227	c.1193A>G	c.(1192-1194)gAa>gGa	p.E398G		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	398	2 X 4 AA repeats of S-L-P-A.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.E398G(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AAGGTTCTCTTCTCTACCCCA	0.547																																						uc002iuu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)GAA>GGA		coilin							85.0	86.0	86.0					17																	55027410		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027410T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1193A>G	17.37:g.55027410T>C	ENSP00000240316:p.Glu398Gly						p.E398G	NM_004645	NP_004636	P38432	COIL_HUMAN			2	1224	-	Breast(9;6.15e-08)		398			2 X 4 AA repeats of S-L-P-A.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1193A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	0.283	-0.985158	0.02180	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.75	3.77	0.43336	.	0.303979	0.35291	N	0.003315	T	0.05410	0.0143	N	0.00092	-2.175	0.22996	N	0.998458	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	9	0.02654	T	1	-10.7975	10.7707	0.46321	0.0:0.8531:0.0:0.1469	.	398	P38432	COIL_HUMAN	G	398	.	ENSP00000240316:E398G	E	-	2	0	COIL	52382409	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	2.941000	0.49011	0.795000	0.33922	-1.006000	0.02489	GAA		PASS	0.547	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			65	163	65	163	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61396404	61396404	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:61396404G>A	ENST00000424789.2	+	9	1310	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E436K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	436					in utero embryonic development (GO:0001701)			p.E436K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGAACTCCGGAAATGCGCAG	0.512																																						uc002jal.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1306-1308)GAA>AAA		tetratricopeptide repeat, ankyrin repeat and							34.0	37.0	36.0					17																	61396404		2087	4221	6308	SO:0001583	missense	26115						binding	g.chr17:61396404G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1306G>A	17.37:g.61396404G>A	ENSP00000387593:p.Glu436Lys					TANC2_uc010wpe.1_Missense_Mutation_p.E346K	p.E436K	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			9	1329	+			436					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1306G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611209	0.96637	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68903	-0.36;-0.36	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.68593	2.085	0.58432	D	0.999998	P;D	0.55605	0.93;0.972	P;P	0.57720	0.545;0.826	T	0.80913	-0.1170	10	0.72032	D	0.01	.	18.8852	0.92375	0.0:0.0:1.0:0.0	.	436;436	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	K	436	ENSP00000374171:E436K;ENSP00000387593:E436K	ENSP00000374171:E436K	E	+	1	0	TANC2	58750136	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.534000	0.98061	2.472000	0.83506	0.585000	0.79938	GAA		PASS	0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			18	58	18	58	---	---	---	---
UBALD2	283991	broad.mit.edu	37	17	74261643	74261643	+	Silent	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:74261643G>A	ENST00000327490.6	+	1	361	c.57G>A	c.(55-57)ctG>ctA	p.L19L	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	19								p.L19L(1)									AGTTCGTGCTGGCCGCGGGCT	0.756																																						uc010wsy.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(55-57)CTG>CTA		hypothetical protein LOC283991							11.0	12.0	12.0					17																	74261643		2063	4146	6209	SO:0001819	synonymous_variant	283991							g.chr17:74261643G>A		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member B"""	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.57G>A	17.37:g.74261643G>A							p.L19L	NM_182565	NP_872371	Q8IYN6	F100B_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		1	358	+			19						Silent	SNP	ENST00000327490.6	37	c.57G>A	CCDS11742.1																																																																																				PASS	0.756	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		8	31	8	31	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79914950	79914950	+	Splice_Site	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:79914950G>T	ENST00000409678.3	-	7	1079	c.696C>A	c.(694-696)agC>agA	p.S232R		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	232						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.S166R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGCCCCCCGCGCTGCAAGGAG	0.697																																						uc010wvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)AGC>AGA		notum pectinacetylesterase homolog precursor							28.0	30.0	29.0					17																	79914950		2202	4299	6501	SO:0001630	splice_region_variant	147111					extracellular region	hydrolase activity	g.chr17:79914950G>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.696-1C>A	17.37:g.79914950G>T							p.S232R	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	968	-	all_neural(118;0.0878)|Ovarian(332;0.12)		232				Charge relay system (By similarity).	Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.696C>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223128	0.39300	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	-7.21	0.01490	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84685	0.0719	9	0.87932	D	0	.	13.6167	0.62112	0.6556:0.0:0.3444:0.0	.	232	Q6P988	NOTUM_HUMAN	R	232	.	ENSP00000387310:S232R	S	-	3	2	NOTUM	77508240	0.545000	0.26449	0.847000	0.33407	0.088000	0.18126	-0.081000	0.11321	-1.262000	0.02459	-2.087000	0.00375	AGC		PASS	0.697	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493	Missense_Mutation	16	14	16	14	---	---	---	---
RAB40B	10966	broad.mit.edu	37	17	80618872	80618872	+	Silent	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr17:80618872C>A	ENST00000571995.1	-	3	386	c.255G>T	c.(253-255)cgG>cgT	p.R85R	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Silent_p.R85R	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	85					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R85R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCTGTGCGCCCCGGGAGTAGG	0.448																																						uc002kft.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)CGG>CGT		RAB40B, member RAS oncogene family							103.0	92.0	95.0					17																	80618872		2203	4300	6503	SO:0001819	synonymous_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80618872C>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.255G>T	17.37:g.80618872C>A						RAB40B_uc002kfs.2_RNA	p.R85R	NM_006822	NP_006813	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		3	381	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	85					Q8WVG3	Silent	SNP	ENST00000571995.1	37	c.255G>T	CCDS11816.1																																																																																				PASS	0.448	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			27	36	27	36	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13048922	13048922	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:13048922C>G	ENST00000325971.8	+	14	1937	c.344C>G	c.(343-345)tCt>tGt	p.S115C	CEP192_ENST00000506447.1_Missense_Mutation_p.S711C|CEP192_ENST00000430049.2_Missense_Mutation_p.S236C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	115					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S115C(1)|p.S711C(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTGGTGATTCTATGCTTAGG	0.388																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2131-2133)TCT>TGT		centrosomal protein 192kDa							73.0	73.0	73.0					18																	13048922		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13048922C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.344C>G	18.37:g.13048922C>G	ENSP00000317156:p.Ser115Cys					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S236C|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.S452C	p.S711C	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			16	2212	+			711					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2132C>G		.	.	.	.	.	.	.	.	.	.	C	12.26	1.884299	0.33255	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.08102	3.13;3.13;3.14	4.96	4.96	0.65561	.	0.000000	0.32901	U	0.005509	T	0.16557	0.0398	L	0.29908	0.895	0.29611	N	0.84693	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.948;0.971;0.971	T	0.01007	-1.1483	10	0.72032	D	0.01	-11.1338	11.6756	0.51427	0.0:0.9169:0.0:0.0831	.	236;711;115	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	C	711;115;115;236	ENSP00000427550:S711C;ENSP00000317156:S115C;ENSP00000389190:S236C	ENSP00000317156:S115C	S	+	2	0	CEP192	13038922	1.000000	0.71417	0.913000	0.36048	0.011000	0.07611	2.708000	0.47152	2.456000	0.83038	0.650000	0.86243	TCT		PASS	0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		26	60	26	60	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14124406	14124406	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:14124406G>C	ENST00000590202.1	-	2	225	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Missense_Mutation_p.Q25E	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q25E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAATTCTGTTGGGCAGGGTCT	0.423																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CAA>GAA		zinc finger protein 519							80.0	86.0	84.0					18																	14124406		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14124406G>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.73C>G	18.37:g.14124406G>C	ENSP00000464872:p.Gln25Glu					ZNF519_uc002ksq.1_RNA|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_RNA	p.Q25E	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			2	226	-			25			KRAB.			Missense_Mutation	SNP	ENST00000590202.1	37	c.73C>G	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346386	0.24426	.	.	ENSG00000175322	ENST00000309305	.	.	.	.	.	.	Krueppel-associated box (4);	.	.	.	.	T	0.59390	0.2190	H	0.95004	3.61	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.59521	-0.7439	6	0.87932	D	0	.	.	.	.	.	25	Q8TB69	ZN519_HUMAN	E	25	.	ENSP00000307908:Q25E	Q	-	1	0	ZNF519	14114406	0.045000	0.20229	0.260000	0.24451	0.264000	0.26372	1.932000	0.40143	0.088000	0.17205	0.089000	0.15464	CAA		PASS	0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		69	135	69	135	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25565543	25565543	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:25565543G>T	ENST00000269141.3	-	12	2347	c.1924C>A	c.(1924-1926)Cct>Act	p.P642T	CDH2_ENST00000399380.3_Missense_Mutation_p.P611T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	642	Cadherin 5. {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.P642T(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						GGAGATAAAGGAAGATCAAAA	0.368																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1924-1926)CCT>ACT		cadherin 2, type 1 preproprotein							81.0	80.0	80.0					18																	25565543		2203	4300	6503	SO:0001583	missense	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.chr18:25565543G>T	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.1924C>A	18.37:g.25565543G>T	ENSP00000269141:p.Pro642Thr					CDH2_uc010xbn.1_Missense_Mutation_p.P611T	p.P642T	NM_001792	NP_001783	P19022	CADH2_HUMAN			12	2383	-			642			Extracellular (Potential).|Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1924C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895326	0.33442	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50548	0.74;0.74	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.051002	0.85682	D	0.000000	T	0.60366	0.2263	L	0.43757	1.38	0.80722	D	1	D;D	0.65815	0.995;0.966	D;P	0.69479	0.964;0.691	T	0.46541	-0.9184	10	0.11794	T	0.64	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	611;642	A8MWK3;P19022	.;CADH2_HUMAN	T	642;611	ENSP00000269141:P642T;ENSP00000382312:P611T	ENSP00000269141:P642T	P	-	1	0	CDH2	23819541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.240000	0.51368	2.830000	0.97506	0.585000	0.79938	CCT		PASS	0.368	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		32	103	32	103	---	---	---	---
RNF138	51444	broad.mit.edu	37	18	29693742	29693742	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:29693742C>G	ENST00000261593.3	+	4	769	c.311C>G	c.(310-312)tCt>tGt	p.S104C	RNF138_ENST00000257190.5_Intron|RP11-53I6.2_ENST00000583184.1_RNA|RNF138_ENST00000585103.1_3'UTR	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	104					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S104C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CATTACAAATCTTGTAAGAAG	0.294																																						uc002kxg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)TCT>TGT		ring finger protein 138 isoform 1							60.0	55.0	57.0					18																	29693742		2203	4293	6496	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29693742C>G	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.311C>G	18.37:g.29693742C>G	ENSP00000261593:p.Ser104Cys					RNF138_uc002kxh.2_Intron	p.S104C	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN			4	750	+			104					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.311C>G	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855516	0.32791	.	.	ENSG00000134758	ENST00000261593	D	0.88354	-2.37	5.8	4.93	0.64822	.	0.246767	0.35067	N	0.003467	D	0.92133	0.7506	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	P	0.57283	0.817	D	0.92901	0.6339	10	0.87932	D	0	-37.7414	14.7816	0.69772	0.0:0.9309:0.0:0.0691	.	104	Q8WVD3	RN138_HUMAN	C	104	ENSP00000261593:S104C	ENSP00000261593:S104C	S	+	2	0	RNF138	27947740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.552000	0.53705	1.466000	0.48025	0.591000	0.81541	TCT		PASS	0.294	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		22	73	22	73	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42532904	42532904	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:42532904T>C	ENST00000282030.5	+	4	3895	c.3599T>C	c.(3598-3600)gTg>gCg	p.V1200A		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1200						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1146A(1)|p.V1200A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCCCGCTGGTGAGTGAGAAG	0.532									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3598-3600)GTG>GCG		SET binding protein 1 isoform a							72.0	80.0	77.0					18																	42532904		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532904T>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3599T>C	18.37:g.42532904T>C	ENSP00000282030:p.Val1200Ala						p.V1200A	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3895	+			1200					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3599T>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151473	0.38021	.	.	ENSG00000152217	ENST00000282030	T	0.70045	-0.45	6.04	4.88	0.63580	.	0.348665	0.27189	N	0.020503	T	0.45915	0.1366	N	0.14661	0.345	0.27875	N	0.939895	B	0.11235	0.004	B	0.17979	0.02	T	0.22941	-1.0202	10	0.06099	T	0.92	.	13.2015	0.59772	0.0:0.0:0.1438:0.8562	.	1200	Q9Y6X0	SETBP_HUMAN	A	1200	ENSP00000282030:V1200A	ENSP00000282030:V1200A	V	+	2	0	SETBP1	40786902	0.996000	0.38824	0.950000	0.38849	0.996000	0.88848	1.787000	0.38704	1.103000	0.41568	0.459000	0.35465	GTG		PASS	0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		37	83	37	83	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47813213	47813213	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:47813213C>G	ENST00000285106.6	-	2	733	c.19G>C	c.(19-21)Gac>Cac	p.D7H	CXXC1_ENST00000589940.1_Missense_Mutation_p.D7H|CXXC1_ENST00000412036.2_Missense_Mutation_p.D7H|CXXC1_ENST00000587396.1_5'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	7					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D7H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGCTCTGGGTCTGAACCATCT	0.597																																						uc002leq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(19-21)GAC>CAC		CXXC finger 1 (PHD domain) isoform 2							93.0	87.0	89.0					18																	47813213		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47813213C>G	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.19G>C	18.37:g.47813213C>G	ENSP00000285106:p.Asp7His					CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.D7H|CXXC1_uc010doy.2_Missense_Mutation_p.D7H|CXXC1_uc002les.2_Missense_Mutation_p.D7H	p.D7H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			2	752	-			7					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.19G>C	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652160	0.67472	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.25250	1.81;1.81	3.63	3.63	0.41609	.	0.000000	0.85682	U	0.000000	T	0.46678	0.1405	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.83275	0.96;0.993;0.996;0.99	T	0.50668	-0.8801	10	0.87932	D	0	-13.651	13.1615	0.59547	0.0:1.0:0.0:0.0	.	7;7;7;7	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	7	ENSP00000285106:D7H;ENSP00000390475:D7H	ENSP00000285106:D7H	D	-	1	0	CXXC1	46067211	1.000000	0.71417	0.992000	0.48379	0.528000	0.34623	6.874000	0.75546	1.748000	0.51833	0.297000	0.19635	GAC		PASS	0.597	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		18	111	18	111	---	---	---	---
CPLX4	339302	broad.mit.edu	37	18	56963953	56963953	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:56963953C>G	ENST00000299721.3	-	3	646	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	154					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.E154Q(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CACTTCTGCTCCGCTGTCTGC	0.502																																						uc002lhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(460-462)GAG>CAG		complexin 4 precursor							87.0	80.0	83.0					18																	56963953		2203	4300	6503	SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56963953C>G	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.460G>C	18.37:g.56963953C>G	ENSP00000299721:p.Glu154Gln						p.E154Q	NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN			3	647	-		Colorectal(73;0.175)	154					F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	c.460G>C	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156864	0.94686	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.74881	2.28	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.81571	-0.0872	9	0.87932	D	0	-2.6634	19.3422	0.94347	0.0:1.0:0.0:0.0	.	154	Q7Z7G2	CPLX4_HUMAN	Q	154	.	ENSP00000299721:E154Q	E	-	1	0	CPLX4	55114933	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	7.425000	0.80255	2.653000	0.90120	0.561000	0.74099	GAG		PASS	0.502	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		28	19	28	19	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64197172	64197172	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:64197172C>T	ENST00000540086.1	-	9	1614	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	CDH19_ENST00000262150.2_Silent_p.L456L	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	564	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L456L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTTGCACATACAGTGGGATCG	0.328																																						uc002lkc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1366-1368)CTG>CTA		cadherin 19, type 2 preproprotein							119.0	115.0	116.0					18																	64197172		2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197172C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1368G>A	18.37:g.64197172C>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.L456L	p.L456L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			9	1506	-		Esophageal squamous(42;0.0132)	456			Cadherin 4.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000540086.1	37	c.1368G>A	CCDS59325.1																																																																																				PASS	0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		30	152	30	152	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678309	66678309	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:66678309C>A	ENST00000360242.5	+	7	1519	c.1402C>A	c.(1402-1404)Cta>Ata	p.L468I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L468I|CCDC102B_ENST00000584156.1_Missense_Mutation_p.L468I	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	468								p.L468I(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGTGGAAGAACTAAAGCAGGG	0.373																																						uc002lkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1402-1404)CTA>ATA		coiled-coil domain containing 102B							105.0	101.0	102.0					18																	66678309		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678309C>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1402C>A	18.37:g.66678309C>A	ENSP00000353377:p.Leu468Ile					CCDC102B_uc002lki.2_Missense_Mutation_p.L468I	p.L468I	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			9	1625	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	468			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1402C>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	8.919	0.960492	0.18583	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.28454	1.61;1.61	5.06	4.15	0.48705	.	0.000000	0.35936	N	0.002882	T	0.50343	0.1610	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49597	-0.8923	10	0.59425	D	0.04	-6.8161	8.1946	0.31389	0.0:0.88:0.0:0.12	.	468	Q68D86	C102B_HUMAN	I	468	ENSP00000316237:L468I;ENSP00000353377:L468I	ENSP00000316237:L468I	L	+	1	2	CCDC102B	64829289	1.000000	0.71417	0.793000	0.32043	0.337000	0.28794	2.421000	0.44688	1.043000	0.40175	0.655000	0.94253	CTA		PASS	0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		25	29	25	29	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999377	72999377	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr18:72999377C>A	ENST00000580243.1	+	2	2363	c.2015C>A	c.(2014-2016)cCc>cAc	p.P672H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P627H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	672					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P627H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCTGCGTCCCCCATAGCAAAA	0.557																																						uc002lly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1879-1881)CCC>CAC		teashirt family zinc finger 1							91.0	84.0	86.0					18																	72999377		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999377C>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2015C>A	18.37:g.72999377C>A	ENSP00000464391:p.Pro672His						p.P627H	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2443	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	672					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1880C>A		.	.	.	.	.	.	.	.	.	.	C	5.993	0.367153	0.11352	.	.	ENSG00000179981	ENST00000322038	T	0.44881	0.91	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.78049	2.395	0.25313	N	0.989181	D	0.89917	1.0	D	0.87578	0.998	T	0.69946	-0.5007	10	0.87932	D	0	-17.0769	18.7856	0.91954	0.0:1.0:0.0:0.0	.	672	Q6ZSZ6	TSH1_HUMAN	H	627	ENSP00000323584:P627H	ENSP00000323584:P627H	P	+	2	0	TSHZ1	71128365	1.000000	0.71417	0.246000	0.24233	0.067000	0.16453	7.487000	0.81328	-2.223000	0.00726	-1.131000	0.01979	CCC		PASS	0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		42	47	42	47	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2422036	2422036	+	Missense_Mutation	SNP	C	C	T	rs139183825	byFrequency	TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:2422036C>T	ENST00000332578.3	+	13	2237	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	746					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S746L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TCTCCCCCCTCGACCACAAGG	0.662																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2236-2238)TCG>TTG		transmembrane protease, serine 9		C	LEU/SER	0,4406		0,0,2203	73.0	67.0	69.0		2237	2.0	0.0	19	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TMPRSS9	NM_182973.1	145	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	746/1060	2422036	3,13003	2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2422036C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2237C>T	19.37:g.2422036C>T	ENSP00000330264:p.Ser746Leu						p.S746L	NM_182973	NP_892018	Q7Z410	TMPS9_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)	13	2237	+			746			Extracellular (Potential).		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2237C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482496	0.26598	0.0	3.49E-4	ENSG00000178297	ENST00000332578	D	0.88431	-2.38	4.2	1.98	0.26296	.	0.816910	0.10494	N	0.668079	T	0.75989	0.3925	N	0.19112	0.55	0.09310	N	1	B	0.33120	0.398	B	0.19391	0.025	T	0.61332	-0.7084	10	0.28530	T	0.3	.	6.2437	0.20805	0.1904:0.7058:0.0:0.1038	.	746	Q7Z410	TMPS9_HUMAN	L	746	ENSP00000330264:S746L	ENSP00000330264:S746L	S	+	2	0	TMPRSS9	2373036	0.000000	0.05858	0.004000	0.12327	0.152000	0.21847	-0.023000	0.12456	0.207000	0.20607	-0.339000	0.08088	TCG		PASS	0.662	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		45	68	45	68	---	---	---	---
FSD1	79187	broad.mit.edu	37	19	4311905	4311905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:4311905G>A	ENST00000221856.6	+	7	704	c.557G>A	c.(556-558)tGg>tAg	p.W186*	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Nonsense_Mutation_p.W186*	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	186	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.W186*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGGTGTGGCGCATGCCG	0.637																																						uc002lzy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(556-558)TGG>TAG		fibronectin type III and SPRY domain containing							135.0	102.0	113.0					19																	4311905		2203	4300	6503	SO:0001587	stop_gained	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4311905G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.557G>A	19.37:g.4311905G>A	ENSP00000221856:p.Trp186*					FSD1_uc002lzz.2_Nonsense_Mutation_p.W186*|FSD1_uc002maa.2_5'UTR	p.W186*	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	7	710	+			186			Fibronectin type-III.		B2RDT0|Q9BXN0|Q9HAG4	Nonsense_Mutation	SNP	ENST00000221856.6	37	c.557G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465235	0.97590	.	.	ENSG00000105255	ENST00000221856	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4961	0.84246	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000221856:W186X	W	+	2	0	FSD1	4262905	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	9.381000	0.97205	2.491000	0.84063	0.561000	0.74099	TGG		PASS	0.637	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		35	72	35	72	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10080291	10080291	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:10080291C>A	ENST00000264828.3	-	56	4143	c.4058G>T	c.(4057-4059)cGt>cTt	p.R1353L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1353	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R1353L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCCCCACACGTCCAGGGGG	0.682																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(4057-4059)CGT>CTT		collagen, type V, alpha 3 preproprotein							20.0	24.0	23.0					19																	10080291		2202	4296	6498	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10080291C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4058G>T	19.37:g.10080291C>A	ENSP00000264828:p.Arg1353Leu						p.R1353L	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		56	4144	-			1353			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4058G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614395	0.28712	.	.	ENSG00000080573	ENST00000264828	D	0.94138	-3.36	3.56	2.52	0.30459	.	0.279896	0.28465	U	0.015249	T	0.76941	0.4058	N	0.02357	-0.585	0.09310	N	1	P	0.35401	0.499	B	0.31495	0.131	T	0.70464	-0.4864	10	0.16896	T	0.51	.	5.5343	0.17003	0.0:0.7483:0.0:0.2517	.	1353	P25940	CO5A3_HUMAN	L	1353	ENSP00000264828:R1353L	ENSP00000264828:R1353L	R	-	2	0	COL5A3	9941291	0.004000	0.15560	0.744000	0.31058	0.732000	0.41865	0.465000	0.22004	0.715000	0.32103	0.491000	0.48974	CGT		PASS	0.682	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		17	23	17	23	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12089390	12089390	+	Silent	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:12089390C>T	ENST00000358987.3	+	4	778	c.651C>T	c.(649-651)atC>atT	p.I217I	ZNF763_ENST00000538752.1_Silent_p.I237I|ZNF763_ENST00000545530.1_Silent_p.I95I|ZNF763_ENST00000590798.1_Silent_p.I237I|ZNF763_ENST00000343949.5_Silent_p.I220I			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I219I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TATATCTTATCCATGAAAGAA	0.383																																						uc002msw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)ATC>ATT		zinc finger protein 763							85.0	86.0	85.0					19																	12089390		2203	4300	6503	SO:0001819	synonymous_variant	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12089390C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.651C>T	19.37:g.12089390C>T						ZNF763_uc010xmf.1_Silent_p.I237I|ZNF763_uc002msv.2_Silent_p.I220I|ZNF763_uc010xmg.1_Silent_p.I95I	p.I217I	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			4	806	+			217			C2H2-type 3.		B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37	c.651C>T																																																																																					PASS	0.383	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		9	94	9	94	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12817544	12817544	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:12817544C>G	ENST00000592287.1	-	13	1444	c.1336G>C	c.(1336-1338)Gat>Cat	p.D446H	TNPO2_ENST00000450764.2_Missense_Mutation_p.D446H|TNPO2_ENST00000441499.1_Missense_Mutation_p.D446H|TNPO2_ENST00000425528.1_Missense_Mutation_p.D446H|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Missense_Mutation_p.D446H|TNPO2_ENST00000356861.5_Missense_Mutation_p.D446H	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	446					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.D446H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCTTCTTATCCGACAGGCAC	0.617																																						uc002muo.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1336-1338)GAT>CAT		transportin 2 (importin 3, karyopherin beta 2b)							33.0	33.0	33.0					19																	12817544		2177	4282	6459	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817544C>G	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1336G>C	19.37:g.12817544C>G	ENSP00000468434:p.Asp446His					TNPO2_uc002mup.2_Missense_Mutation_p.D538H|TNPO2_uc002muq.2_Missense_Mutation_p.D446H|TNPO2_uc002mur.2_Missense_Mutation_p.D446H|SNORD41_uc002mut.1_5'Flank	p.D446H	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			13	1521	-			446			HEAT 7.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1336G>C	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401134	0.83120	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.89715	3.055	0.80722	D	1	D;P	0.56287	0.975;0.825	P;B	0.58331	0.837;0.194	D	0.91331	0.5090	10	0.87932	D	0	-23.2872	17.4031	0.87466	0.0:1.0:0.0:0.0	.	610;446	Q4LE60;O14787	.;TNPO2_HUMAN	H	610;446;446;446;446;446;446	ENSP00000407182:D446H;ENSP00000389648:D446H;ENSP00000397379:D446H;ENSP00000349321:D446H	ENSP00000349321:D446H	D	-	1	0	TNPO2	12678544	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	5.725000	0.68507	2.409000	0.81822	0.655000	0.94253	GAT		PASS	0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		10	16	10	16	---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20296798	20296798	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:20296798A>T	ENST00000335117.8	+	3	217	c.160A>T	c.(160-162)Att>Ttt	p.I54F	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.I54F	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I54F(1)|p.I45F(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGAAACAGGTATTATTGTCTC	0.358																																						uc002nou.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(160-162)ATT>TTT		zinc finger protein 486							61.0	65.0	64.0					19																	20296798		2159	4286	6445	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20296798A>T	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.160A>T	19.37:g.20296798A>T	ENSP00000335042:p.Ile54Phe						p.I54F	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			3	217	+			54			KRAB.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.160A>T	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	8.874	0.950051	0.18431	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.00792	5.69	0.109	0.109	0.14578	Krueppel-associated box (3);	.	.	.	.	T	0.01320	0.0043	N	0.16066	0.365	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.56890	-0.7904	8	0.56958	D	0.05	.	.	.	.	.	54	Q96H40	ZN486_HUMAN	F	93;54	ENSP00000335042:I54F	ENSP00000335042:I54F	I	+	1	0	ZNF486	20157798	0.013000	0.17824	0.092000	0.20876	0.092000	0.18411	-0.218000	0.09240	0.156000	0.19299	0.155000	0.16302	ATT		PASS	0.358	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		16	56	16	56	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154685	22154685	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:22154685G>T	ENST00000397126.4	-	4	3299	c.3151C>A	c.(3151-3153)Cat>Aat	p.H1051N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1051					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H923N(3)|p.H1051N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGCATGAGTTGCCTTA	0.458																																						uc002nqp.2																			4	Substitution - Missense(4)		lung(3)|upper_aerodigestive_tract(1)	ovary(5)|skin(2)	7						c.(2767-2769)CAT>AAT		zinc finger protein 208							123.0	125.0	124.0					19																	22154685		2125	4249	6374	SO:0001583	missense	7757							g.chr19:22154685G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3151C>A	19.37:g.22154685G>T	ENSP00000380315:p.His1051Asn					ZNF208_uc002nqo.1_Intron	p.H923N	NM_007153	NP_009084					6	2916	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2767C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395523	0.42512	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67345	-0.26	2.59	0.105	0.14535	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53302	0.1788	.	.	.	0.22292	N	0.999222	B	0.31174	0.311	B	0.31869	0.137	T	0.47368	-0.9123	8	0.87932	D	0	.	5.2469	0.15502	0.1228:0.0:0.6782:0.199	.	923	O43345	ZN208_HUMAN	N	1051;923	ENSP00000380315:H1051N	ENSP00000380315:H1051N	H	-	1	0	ZNF208	21946525	0.924000	0.31332	0.000000	0.03702	0.004000	0.04260	2.120000	0.41968	-0.326000	0.08564	0.297000	0.19635	CAT		PASS	0.458	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		35	154	35	154	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364023	22364023	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:22364023C>T	ENST00000397121.2	-	3	813	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	166					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.E166K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGAATTCTCTCTAGTATAA	0.343																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GAG>AAG		zinc finger protein 676							62.0	62.0	62.0					19																	22364023		1976	4187	6163	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364023C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.496G>A	19.37:g.22364023C>T	ENSP00000380310:p.Glu166Lys						p.E166K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	814	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	166					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.496G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.820240	0.32145	.	.	ENSG00000196109	ENST00000397121	T	0.19806	2.12	1.03	1.03	0.20045	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42698	0.1214	M	0.79614	2.46	0.29724	N	0.838421	D	0.69078	0.997	D	0.74023	0.982	T	0.33007	-0.9885	9	0.66056	D	0.02	.	8.8706	0.35314	0.0:1.0:0.0:0.0	.	166	Q8N7Q3	ZN676_HUMAN	K	166	ENSP00000380310:E166K	ENSP00000380310:E166K	E	-	1	0	ZNF676	22155863	0.992000	0.36948	0.005000	0.12908	0.072000	0.16883	1.173000	0.31920	0.486000	0.27676	0.195000	0.17529	GAG		PASS	0.343	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		53	75	53	75	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23836897	23836897	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:23836897C>G	ENST00000359788.4	-	4	1006	c.838G>C	c.(838-840)Gga>Cga	p.G280R	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	280					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G280R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGTTTCTCTCCTGTATGAATT	0.363																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(838-840)GGA>CGA		zinc finger protein 675							55.0	59.0	58.0					19																	23836897		2201	4299	6500	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836897C>G		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.838G>C	19.37:g.23836897C>G	ENSP00000352836:p.Gly280Arg						p.G280R	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	1020	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	280					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.838G>C	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.475742	0.26511	.	.	ENSG00000197372	ENST00000359788	T	0.01629	4.72	0.916	0.916	0.19373	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	L	0.37750	1.13	0.42947	D	0.994369	D	0.60575	0.988	P	0.61003	0.882	T	0.53613	-0.8414	9	0.56958	D	0.05	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	280	Q8TD23	ZN675_HUMAN	R	280	ENSP00000352836:G280R	ENSP00000352836:G280R	G	-	1	0	ZNF675	23628737	0.235000	0.23794	0.183000	0.23137	0.181000	0.23173	3.712000	0.54875	0.300000	0.22699	0.305000	0.20034	GGA		PASS	0.363	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		40	61	40	61	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34791812	34791812	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:34791812A>G	ENST00000299505.6	+	2	1307	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	145								p.E145G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATGCTAATGGAACTTAGTGCT	0.473																																						uc002nvd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GAA>GGA		hypothetical protein LOC9710							60.0	49.0	53.0					19																	34791812		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791812A>G		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.434A>G	19.37:g.34791812A>G	ENSP00000299505:p.Glu145Gly					KIAA0355_uc010edk.1_Missense_Mutation_p.E135G	p.E145G	NM_014686	NP_055501	O15063	K0355_HUMAN			2	1293	+	Esophageal squamous(110;0.162)		145					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.434A>G	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148771	0.78001	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.69928	-0.5012	9	0.87932	D	0	-1.2346	15.4502	0.75268	1.0:0.0:0.0:0.0	.	145	O15063	K0355_HUMAN	G	145	.	ENSP00000299505:E145G	E	+	2	0	KIAA0355	39483652	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.910000	0.92685	2.107000	0.64212	0.459000	0.35465	GAA		PASS	0.473	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		32	80	32	80	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38968482	38968482	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:38968482G>T	ENST00000359596.3	+	30	4426	c.4426G>T	c.(4426-4428)Ggg>Tgg	p.G1476W	RYR1_ENST00000355481.4_Missense_Mutation_p.G1476W|RYR1_ENST00000360985.3_Missense_Mutation_p.G1476W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1476	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1476W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGACCATGGGGGATGAACA	0.672																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(4426-4428)GGG>TGG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						53.0	43.0	46.0					19																	38968482		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38968482G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4426G>T	19.37:g.38968482G>T	ENSP00000352608:p.Gly1476Trp					RYR1_uc002oiu.2_Missense_Mutation_p.G1476W	p.G1476W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		30	4556	+	all_cancers(60;7.91e-06)		1476			Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4426G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824826	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.86956	-2.19;-2.19;-2.19	5.41	5.41	0.78517	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	D	0.92899	0.7741	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92823	0.6274	10	0.54805	T	0.06	.	18.787	0.91959	0.0:0.0:1.0:0.0	.	1476;1476	P21817-2;P21817	.;RYR1_HUMAN	W	1476	ENSP00000352608:G1476W;ENSP00000347667:G1476W;ENSP00000354254:G1476W	ENSP00000347667:G1476W	G	+	1	0	RYR1	43660322	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	9.659000	0.98597	2.555000	0.86185	0.313000	0.20887	GGG		PASS	0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	277	23	277	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40411910	40411910	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:40411910C>G	ENST00000221347.6	-	7	3725	c.3718G>C	c.(3718-3720)Ggc>Cgc	p.G1240R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1240						extracellular vesicular exosome (GO:0070062)		p.G1240R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAAGCTGCCACCGGATGGC	0.672																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(3718-3720)GGC>CGC		Fc fragment of IgG binding protein precursor							57.0	53.0	55.0					19																	40411910		2203	4298	6501	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411910C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3718G>C	19.37:g.40411910C>G	ENSP00000221347:p.Gly1240Arg						p.G1240R	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3726	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1240					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3718G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780385	0.49891	.	.	ENSG00000090920	ENST00000221347	T	0.08193	3.12	4.54	4.54	0.55810	von Willebrand factor, type D domain (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	H	0.94503	3.545	0.45194	D	0.998204	D	0.89917	1.0	D	0.91635	0.999	T	0.57590	-0.7785	10	0.72032	D	0.01	.	16.1983	0.82046	0.0:1.0:0.0:0.0	.	1240	Q9Y6R7	FCGBP_HUMAN	R	1240	ENSP00000221347:G1240R	ENSP00000221347:G1240R	G	-	1	0	FCGBP	45103750	0.966000	0.33281	0.185000	0.23176	0.046000	0.14306	3.957000	0.56730	2.367000	0.80283	0.436000	0.28706	GGC		PASS	0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	17	24	17	---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584936	42584936	+	Silent	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:42584936A>G	ENST00000600245.1	+	2	2833	c.2178A>G	c.(2176-2178)acA>acG	p.T726T	ZNF574_ENST00000222339.7_Silent_p.T816T|ZNF574_ENST00000359044.4_Silent_p.T726T|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	726	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T726T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCACTGCTACAGCATCCCCTG	0.677																																						uc002osm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2176-2178)ACA>ACG		zinc finger protein 574							64.0	72.0	70.0					19																	42584936		2203	4299	6502	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584936A>G	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2178A>G	19.37:g.42584936A>G						ZNF574_uc002osk.3_Silent_p.T816T	p.T726T	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	2347	+		Prostate(69;0.059)	726			Ala-rich.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.2178A>G	CCDS12596.1																																																																																				PASS	0.677	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		56	54	56	54	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55421426	55421426	+	Splice_Site	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr19:55421426G>T	ENST00000291890.4	+	5	720		c.e5+1		NCR1_ENST00000594765.1_Splice_Site|NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000357397.5_Splice_Site|NCR1_ENST00000350790.5_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000598576.1_Splice_Site	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCTTTCCTGGTGAGTAACTG	0.483																																						uc002qib.2																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e5+1		natural cytotoxicity triggering receptor 1							185.0	188.0	187.0					19																	55421426		2203	4300	6503	SO:0001630	splice_region_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421426G>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.682+1G>T	19.37:g.55421426G>T						NCR1_uc002qic.2_Splice_Site_p.D228_splice|NCR1_uc002qie.2_Splice_Site_p.D228_splice|NCR1_uc002qid.2_Splice_Site_p.A133_splice|NCR1_uc002qif.2_Splice_Site_p.D133_splice|NCR1_uc010esj.2_Splice_Site_p.A121_splice	p.A228_splice	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	720	+								B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Splice_Site	SNP	ENST00000291890.4	37	c.682_splice	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523404	0.27299	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	.	.	.	3.19	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1935	0.20538	0.1387:0.0:0.8613:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCR1	60113238	0.993000	0.37304	0.797000	0.32132	0.168000	0.22595	2.721000	0.47260	0.923000	0.37045	0.579000	0.79373	.		PASS	0.483	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		Intron	110	123	110	123	---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2444418	2444418	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:2444418C>A	ENST00000438552.2	-	4	557	c.395G>T	c.(394-396)cGt>cTt	p.R132L	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_Missense_Mutation_p.R132L|SNRPB_ENST00000339610.6_Missense_Mutation_p.R53L	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	132					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.R132L(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GCCAACCCCACGGACTGGCCC	0.617																																						uc002wfz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)CGT>CTT		small nuclear ribonucleoprotein polypeptide B/B'							83.0	96.0	92.0					20																	2444418		2198	4290	6488	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2444418C>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.395G>T	20.37:g.2444418C>A	ENSP00000412566:p.Arg132Leu					SNRPB_uc002wga.1_Missense_Mutation_p.R132L|SNRPB_uc010zpv.1_Missense_Mutation_p.R53L|SNRPB_uc002wgb.2_Missense_Mutation_p.R132L|SNORD119_uc010gam.1_5'Flank	p.R132L	NM_198216	NP_937859	P14678	RSMB_HUMAN			4	558	-			132					Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.395G>T	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492464	0.84962	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.46063	0.88;0.88	5.19	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.80616	2.505	0.80722	D	1	B;D;D;D	0.60160	0.029;0.974;0.974;0.987	B;P;P;P	0.47864	0.071;0.559;0.559;0.559	T	0.60682	-0.7215	10	0.87932	D	0	.	11.5719	0.50839	0.0:0.9141:0.0:0.0859	.	53;132;132;132	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	L	132;132;132;53	ENSP00000370746:R132L;ENSP00000412566:R132L	ENSP00000303591:R132L	R	-	2	0	SNRPB	2392418	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.865000	0.75500	1.435000	0.47434	-0.140000	0.14226	CGT		PASS	0.617	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			111	181	111	181	---	---	---	---
TMX4	56255	broad.mit.edu	37	20	7980393	7980393	+	Silent	SNP	G	G	T	rs200435865		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:7980393G>T	ENST00000246024.2	-	4	668	c.453C>A	c.(451-453)tcC>tcA	p.S151S	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	151					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.S151S(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GAGAAGCCGGGGATTTCCAGC	0.418																																						uc002wmx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)TCC>TCA		thioredoxin-related transmembrane protein 4							47.0	49.0	48.0					20																	7980393		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7980393G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.453C>A	20.37:g.7980393G>T							p.S151S	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			4	586	-			151					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.453C>A	CCDS13101.1																																																																																				PASS	0.418	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		16	57	16	57	---	---	---	---
DYNLRB1	83658	broad.mit.edu	37	20	33122575	33122575	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:33122575A>G	ENST00000357156.2	+	3	273	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.K127E|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.K75E|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	75					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.K75E(1)		endometrium(1)|large_intestine(1)|lung(1)	3						TCGCTCCAAGAAAAATGAAAT	0.527																																						uc002xal.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)AAA>GAA		Roadblock-1							90.0	75.0	80.0					20																	33122575		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122575A>G	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.223A>G	20.37:g.33122575A>G	ENSP00000349679:p.Lys75Glu					DYNLRB1_uc010zuk.1_Missense_Mutation_p.K75E|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA	p.K75E	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			3	283	+			75					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.223A>G	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	A	32	5.109011	0.94292	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.25250	1.81;1.81;1.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	.	.	.	0.80722	D	1	D;P	0.63880	0.993;0.863	D;P	0.67103	0.949;0.629	T	0.51593	-0.8686	9	0.52906	T	0.07	-18.4146	14.6487	0.68780	1.0:0.0:0.0:0.0	rs11537531	75;75	B4DFR2;Q9NP97	.;DLRB1_HUMAN	E	75;75;127	ENSP00000349679:K75E;ENSP00000409090:K75E;ENSP00000363979:K127E	ENSP00000349679:K75E	K	+	1	0	DYNLRB1	32586236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.124000	0.94394	2.132000	0.65825	0.533000	0.62120	AAA		PASS	0.527	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		10	65	10	65	---	---	---	---
MANBAL	63905	broad.mit.edu	37	20	35944790	35944790	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:35944790C>T	ENST00000373605.3	+	4	1042	c.230C>T	c.(229-231)cCc>cTc	p.P77L	MANBAL_ENST00000373606.3_Missense_Mutation_p.P77L|MANBAL_ENST00000397151.1_Missense_Mutation_p.P77L|MANBAL_ENST00000397156.3_Missense_Mutation_p.P77L|MANBAL_ENST00000397152.3_Missense_Mutation_p.P77L|MANBAL_ENST00000397150.1_3'UTR			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	77						integral component of membrane (GO:0016021)		p.P77H(1)|p.P77L(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				AACAAGAGGCCCAAGAAAGAG	0.562																																						uc002xgu.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(229-231)CCC>CTC		mannosidase, beta A, lysosomal-like							69.0	66.0	67.0					20																	35944790		2203	4300	6503	SO:0001583	missense	63905					integral to membrane		g.chr20:35944790C>T		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.230C>T	20.37:g.35944790C>T	ENSP00000362707:p.Pro77Leu					MANBAL_uc002xgv.2_Missense_Mutation_p.P77L|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	p.P77L	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			4	442	+		Myeloproliferative disorder(115;0.00878)	77					A8KAA6|E1P5V3	Missense_Mutation	SNP	ENST00000373605.3	37	c.230C>T	CCDS13293.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343703	0.61073	.	.	ENSG00000101363	ENST00000373606;ENST00000397156;ENST00000397152;ENST00000373605;ENST00000397151	.	.	.	4.76	4.76	0.60689	.	0.625284	0.17356	N	0.177226	T	0.50514	0.1620	.	.	.	0.48452	D	0.999655	B	0.27882	0.192	B	0.32342	0.144	T	0.46803	-0.9165	8	0.34782	T	0.22	-19.8704	13.1012	0.59219	0.0:1.0:0.0:0.0	.	77	Q9NQG1	MANBL_HUMAN	L	77	.	ENSP00000362707:P77L	P	+	2	0	MANBAL	35378204	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.423000	0.44705	2.474000	0.83562	0.561000	0.74099	CCC		PASS	0.562	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		16	86	16	86	---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39704921	39704921	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:39704921G>A	ENST00000361337.2	+	4	516	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	89	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R89Q(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	aaggaaaaacgaaaaGAGGAA	0.368			T	NUP98	AML*																																	uc002xjl.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		2	Substitution - Missense(2)		large_intestine(1)|lung(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(265-267)CGA>CAA		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						126.0	126.0	126.0					20																	39704921		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39704921G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.266G>A	20.37:g.39704921G>A	ENSP00000354522:p.Arg89Gln					TOP1_uc010gge.1_RNA	p.R89Q	NM_003286	NP_003277	P11387	TOP1_HUMAN			4	512	+		Myeloproliferative disorder(115;0.00878)	89			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.266G>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098229	0.56183	.	.	ENSG00000198900	ENST00000361337	T	0.22539	1.95	5.11	5.11	0.69529	.	0.425535	0.24350	N	0.039281	T	0.22781	0.0550	L	0.29908	0.895	0.53005	D	0.999968	P	0.50369	0.934	P	0.49528	0.614	T	0.00423	-1.1748	10	0.31617	T	0.26	0.1703	14.2251	0.65853	0.0:0.0:1.0:0.0	.	89	P11387	TOP1_HUMAN	Q	89	ENSP00000354522:R89Q	ENSP00000354522:R89Q	R	+	2	0	TOP1	39138335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.826000	0.97356	0.655000	0.94253	CGA		PASS	0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			24	73	24	73	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62195014	62195014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:62195014G>A	ENST00000467148.1	-	8	5230	c.5161C>T	c.(5161-5163)Cag>Tag	p.Q1721*	HELZ2_ENST00000427522.2_Nonsense_Mutation_p.Q1152*	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1721					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q1721*(1)									GCCCGCCGCTGATAGCTCTGG	0.692																																						uc002yfm.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(5161-5163)CAG>TAG		PPAR-alpha interacting complex protein 285							7.0	9.0	9.0					20																	62195014		2138	4245	6383	SO:0001587	stop_gained	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62195014G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5161C>T	20.37:g.62195014G>A	ENSP00000417401:p.Gln1721*					PRIC285_uc002yfl.1_Nonsense_Mutation_p.Q1152*	p.Q1721*	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	6053	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1721					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Nonsense_Mutation	SNP	ENST00000467148.1	37	c.5161C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	43	9.988651	0.99312	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	.	.	.	4.93	1.62	0.23740	.	0.109183	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.8994	9.7034	0.40200	0.0:0.5871:0.2985:0.1143	.	.	.	.	X	1152;1721	.	ENSP00000393257:Q1152X	Q	-	1	0	RP4-697K14.7	61665458	0.469000	0.25846	0.989000	0.46669	0.213000	0.24496	1.804000	0.38873	0.455000	0.26910	0.491000	0.48974	CAG		PASS	0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		5	7	5	7	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421809	62421809	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:62421809T>A	ENST00000245663.4	-	2	452	c.302A>T	c.(301-303)aAc>aTc	p.N101I	ZBTB46_ENST00000395104.1_Missense_Mutation_p.N101I|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Missense_Mutation_p.N101I	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	101					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.N101I(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGATGACGTTCCTGCTGGT	0.607																																						uc002ygv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(301-303)AAC>ATC		zinc finger and BTB domain containing 46							61.0	51.0	54.0					20																	62421809		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421809T>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.302A>T	20.37:g.62421809T>A	ENSP00000245663:p.Asn101Ile					ZBTB46_uc002ygu.2_RNA	p.N101I	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	503	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		101					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.302A>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522699	0.85600	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.70869	-0.52;-0.52;-0.52	5.82	5.82	0.92795	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	M	0.91459	3.21	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.89936	0.4069	10	0.72032	D	0.01	.	15.354	0.74412	0.0:0.0:0.0:1.0	.	101	Q86UZ6	ZBT46_HUMAN	I	101	ENSP00000245663:N101I;ENSP00000303102:N101I;ENSP00000378536:N101I	ENSP00000245663:N101I	N	-	2	0	ZBTB46	61892253	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	7.905000	0.87416	2.228000	0.72767	0.533000	0.62120	AAC		PASS	0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		15	44	15	44	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62853343	62853343	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr20:62853343C>T	ENST00000328439.1	+	14	2703	c.2339C>T	c.(2338-2340)aCc>aTc	p.T780I	MYT1_ENST00000536311.1_Missense_Mutation_p.T807I|MYT1_ENST00000360149.4_Missense_Mutation_p.T482I	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T780I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGGAAGTCACCCTGACCAAC	0.517																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2338-2340)ACC>ATC		myelin transcription factor 1							84.0	82.0	83.0					20																	62853343		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62853343C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2339C>T	20.37:g.62853343C>T	ENSP00000327465:p.Thr780Ile					MYT1_uc002yih.2_Missense_Mutation_p.T482I|MYT1_uc002yij.2_Missense_Mutation_p.T439I	p.T780I	NM_004535	NP_004526	Q01538	MYT1_HUMAN			14	2703	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		780					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2339C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769119	0.69992	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.72282	0.82;-0.64;0.79	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.91635	0.998;0.954;0.999	D	0.83697	0.0180	10	0.56958	D	0.05	-30.0939	19.0776	0.93169	0.0:1.0:0.0:0.0	.	807;780;482	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	I	482;780;807	ENSP00000353269:T482I;ENSP00000327465:T780I;ENSP00000442412:T807I	ENSP00000327465:T780I	T	+	2	0	MYT1	62323787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.512000	0.84698	0.655000	0.94253	ACC		PASS	0.517	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		40	73	40	73	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287519	16287519	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:16287519G>C	ENST00000343518.6	-	1	418	c.367C>G	c.(367-369)Cac>Gac	p.H123D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	123								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602																																						uc010gqp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)CAC>GAC		ANKRD26-like family C, member 3							80.0	92.0	88.0					22																	16287519		2048	3880	5928	SO:0001583	missense	23784							g.chr22:16287519G>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.367C>G	22.37:g.16287519G>C	ENSP00000340610:p.His123Asp					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	p.H123D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	419	-			123					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.367C>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.988	0.183426	0.09495	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26660	1.72	.	.	.	.	.	.	.	.	T	0.12817	0.0311	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.25140	0.058	T	0.16012	-1.0417	7	0.45353	T	0.12	.	.	.	.	.	123	Q6S545	POTEH_HUMAN	D	86;123;123	ENSP00000340610:H123D	ENSP00000340610:H123D	H	-	1	0	POTEH	14667519	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.783000	0.01770	0.269000	0.21961	0.274000	0.19336	CAC		PASS	0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		96	525	96	525	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287598	16287598	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:16287598G>T	ENST00000343518.6	-	1	339	c.288C>A	c.(286-288)agC>agA	p.S96R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	96								p.S96R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCCATCTTGCTCCTGAGTG	0.602																																						uc010gqp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)AGC>AGA		ANKRD26-like family C, member 3							47.0	56.0	53.0					22																	16287598		1770	3382	5152	SO:0001583	missense	23784							g.chr22:16287598G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.288C>A	22.37:g.16287598G>T	ENSP00000340610:p.Ser96Arg					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.S96R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	340	-			96					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.288C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.615	1.132359	0.21041	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.34667	1.35	0.168	0.168	0.15012	.	.	.	.	.	T	0.30885	0.0779	L	0.53249	1.67	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.15321	-1.0441	8	0.37606	T	0.19	.	.	.	.	.	96	Q6S545	POTEH_HUMAN	R	96	ENSP00000340610:S96R	ENSP00000340610:S96R	S	-	3	2	POTEH	14667598	0.007000	0.16637	0.011000	0.14972	0.012000	0.07955	0.291000	0.18994	0.278000	0.22164	0.283000	0.19423	AGC		PASS	0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		68	374	68	374	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18028483	18028483	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:18028483A>T	ENST00000400585.2	+	17	3452	c.3014A>T	c.(3013-3015)cAt>cTt	p.H1005L	CECR2_ENST00000400573.5_Missense_Mutation_p.H1147L|CECR2_ENST00000262608.8_Missense_Mutation_p.H1148L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1189					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.H1147L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACCACCCACATTCTGGAGGC	0.592																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3439-3441)CAT>CTT		cat eye syndrome chromosome region, candidate 2							58.0	60.0	59.0					22																	18028483		1922	4112	6034	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028483A>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3014A>T	22.37:g.18028483A>T	ENSP00000383428:p.His1005Leu					CECR2_uc010gqv.1_Missense_Mutation_p.H1005L|CECR2_uc002zml.2_Missense_Mutation_p.H1006L|CECR2_uc002zmo.2_RNA	p.H1147L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3566	+		all_epithelial(15;0.139)	1189					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3440A>T		.	.	.	.	.	.	.	.	.	.	A	13.25	2.180792	0.38511	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.87;1.87;1.75	4.11	4.11	0.48088	.	0.000000	0.51477	D	0.000084	T	0.38585	0.1046	M	0.67953	2.075	0.45261	D	0.998261	D;D;P	0.56035	0.974;0.974;0.915	P;P;B	0.51657	0.676;0.676;0.374	T	0.37430	-0.9706	10	0.62326	D	0.03	-22.1458	13.5546	0.61751	1.0:0.0:0.0:0.0	.	1189;1005;1147	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1005;1147;1148	ENSP00000383428:H1005L;ENSP00000383417:H1147L;ENSP00000262608:H1148L	ENSP00000262608:H1148L	H	+	2	0	CECR2	16408483	0.827000	0.29292	0.930000	0.37139	0.110000	0.19582	3.571000	0.53841	1.855000	0.53841	0.454000	0.30748	CAT		PASS	0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		23	33	23	33	---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288386	21288386	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:21288386C>G	ENST00000354336.3	+	2	1140	c.631C>G	c.(631-633)Cag>Gag	p.Q211E		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	211					activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.Q211E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCTCAACCTCAGACCACAAC	0.502																																					Pancreas(85;3 1441 23889 42519 42763)	uc002ztf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)CAG>GAG		v-crk sarcoma virus CT10 oncogene homolog							162.0	149.0	154.0					22																	21288386		2203	4300	6503	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288386C>G		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.631C>G	22.37:g.21288386C>G	ENSP00000346300:p.Gln211Glu					CRKL_uc002ztg.1_RNA	p.Q211E	NM_005207	NP_005198	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	1140	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	211					A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.631C>G	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544561	0.45280	.	.	ENSG00000099942	ENST00000354336	T	0.68025	-0.3	5.27	5.27	0.74061	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.57536	1.79	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.67616	-0.5625	10	0.02654	T	1	.	16.7325	0.85439	0.0:1.0:0.0:0.0	.	211	P46109	CRKL_HUMAN	E	211	ENSP00000346300:Q211E	ENSP00000346300:Q211E	Q	+	1	0	CRKL	19618386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.244000	0.78228	2.618000	0.88619	0.655000	0.94253	CAG		PASS	0.502	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		55	125	55	125	---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21350124	21350124	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:21350124C>T	ENST00000215739.8	+	17	2391	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	LZTR1_ENST00000389355.3_Missense_Mutation_p.R659W|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	678	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R678W(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGGCACCCACGGCCAGCCCA	0.647																																						uc002zto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(2032-2034)CGG>TGG		leucine-zipper-like transcription regulator 1							56.0	58.0	57.0					22																	21350124		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21350124C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2032C>T	22.37:g.21350124C>T	ENSP00000215739:p.Arg678Trp					LZTR1_uc002ztn.2_Missense_Mutation_p.R637W|LZTR1_uc011ahy.1_Missense_Mutation_p.R659W|LZTR1_uc002ztp.2_5'Flank	p.R678W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		17	2135	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	678			BTB 2.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2032C>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810083	0.50421	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67523	-0.27;-0.27	5.84	-2.63	0.06133	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	N	0.22421	0.69	0.42950	D	0.994372	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.959;0.971;0.996	T	0.72054	-0.4406	10	0.87932	D	0	-37.038	16.5901	0.84763	0.7588:0.2411:0.0:0.0	.	659;678;637	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	W	637;678;659	ENSP00000215739:R678W;ENSP00000374006:R659W	ENSP00000215739:R678W	R	+	1	2	LZTR1	19680124	0.600000	0.26899	0.232000	0.24009	0.276000	0.26787	1.272000	0.33109	0.038000	0.15604	0.561000	0.74099	CGG		PASS	0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		41	65	41	65	---	---	---	---
CHEK2	11200	broad.mit.edu	37	22	29091746	29091746	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:29091746T>C	ENST00000405598.1	-	12	1402	c.1211A>G	c.(1210-1212)tAt>tGt	p.Y404C	CHEK2_ENST00000402731.1_Missense_Mutation_p.Y375C|CHEK2_ENST00000404276.1_Missense_Mutation_p.Y404C|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.Y404C|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.Y447C|CHEK2_ENST00000382578.1_Missense_Mutation_p.Y313C|CHEK2_ENST00000348295.3_Missense_Mutation_p.Y375C|CHEK2_ENST00000544772.1_Missense_Mutation_p.Y183C|CHEK2_ENST00000403642.1_Missense_Mutation_p.Y313C			O96017	CHK2_HUMAN	checkpoint kinase 2	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.Y404C(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGCACGGTTATACCCAGCAGT	0.453			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Substitution - Missense(1)		lung(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1210-1212)TAT>TGT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							43.0	44.0	43.0					22																	29091746		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091746T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1211A>G	22.37:g.29091746T>C	ENSP00000386087:p.Tyr404Cys					CHEK2_uc003ads.1_Missense_Mutation_p.Y183C|CHEK2_uc010gvh.1_Missense_Mutation_p.Y313C|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Y447C|CHEK2_uc003adv.1_Missense_Mutation_p.Y375C|CHEK2_uc003adw.1_Missense_Mutation_p.Y404C|CHEK2_uc003adx.1_Missense_Mutation_p.Y183C|CHEK2_uc003ady.1_Missense_Mutation_p.Y404C|CHEK2_uc003adz.1_Missense_Mutation_p.Y208C	p.Y404C	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1283	-			404			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1211A>G	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.264057|4.264057	0.80358|0.80358	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T	.|0.58506	.|0.66;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.66	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77363|0.77363	0.4119|0.4119	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.999;1.0;1.0	T|T	0.80792|0.80792	-0.1224|-0.1224	5|10	.|0.87932	.|D	.|0	-23.4536|-23.4536	15.195|15.195	0.73081|0.73081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|313;183;404;375;404;447	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	V|C	148|375;313;87;183;404;404;404;447;313;375	.|ENSP00000329012:Y375C;ENSP00000372021:Y313C;ENSP00000442458:Y183C;ENSP00000329178:Y404C;ENSP00000385747:Y404C;ENSP00000386087:Y404C;ENSP00000372023:Y447C;ENSP00000384919:Y313C;ENSP00000384835:Y375C	.|ENSP00000329178:Y404C	I|Y	-|-	1|2	0|0	CHEK2|CHEK2	27421746|27421746	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.109000|7.109000	0.77062|0.77062	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	ATA|TAT		PASS	0.453	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		31	91	31	91	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40061520	40061520	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:40061520C>A	ENST00000402142.3	+	22	3869	c.3869C>A	c.(3868-3870)cCg>cAg	p.P1290Q	CACNA1I_ENST00000400164.3_Missense_Mutation_p.P1255Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1255Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P1255Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P1290Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P1296Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1290					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P1290Q(1)|p.P1255Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCCGGGCGCCGGGCCTGAAG	0.617																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3868-3870)CCG>CAG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						76.0	78.0	77.0					22																	40061520		2153	4242	6395	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40061520C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3869C>A	22.37:g.40061520C>A	ENSP00000385019:p.Pro1290Gln					CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255Q|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170Q	p.P1290Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			22	3869	+	Melanoma(58;0.0749)		1290			III.|Helical; Name=S4 of repeat III; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3869C>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291144	0.59976	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.63843	1.955	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	0.99897	1.1149	10	0.11485	T	0.65	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	1255;1290;1255;1290	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1290;1255;1290;1255;1296;1255	ENSP00000385019:P1290Q;ENSP00000384093:P1255Q;ENSP00000383887:P1290Q;ENSP00000385680:P1255Q;ENSP00000337829:P1296Q;ENSP00000383028:P1255Q	ENSP00000337829:P1296Q	P	+	2	0	CACNA1I	38391466	1.000000	0.71417	0.064000	0.19789	0.804000	0.45430	7.731000	0.84895	2.253000	0.74438	0.561000	0.74099	CCG		PASS	0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		25	55	25	55	---	---	---	---
ACO2	50	broad.mit.edu	37	22	41907949	41907949	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:41907949C>A	ENST00000216254.4	+	4	524	c.502C>A	c.(502-504)Cct>Act	p.P168T	ACO2_ENST00000396512.3_Missense_Mutation_p.P168T	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	168					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.P168T(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTCTGGAAGCCTGGATCTGG	0.512																																						uc003bac.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(502-504)CCT>ACT		aconitase 2, mitochondrial precursor							53.0	49.0	51.0					22																	41907949		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41907949C>A	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.502C>A	22.37:g.41907949C>A	ENSP00000216254:p.Pro168Thr					ACO2_uc003bad.2_Missense_Mutation_p.P168T	p.P168T	NM_001098	NP_001089	Q99798	ACON_HUMAN			4	524	+			168					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.502C>A	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964292	0.92791	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.78816	-1.21;-1.21	5.67	5.67	0.87782	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.095259	0.85682	D	0.000000	D	0.94420	0.8205	H	0.99903	4.92	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77004	0.987;0.989	D	0.97060	0.9770	10	0.87932	D	0	.	17.9434	0.89032	0.0:1.0:0.0:0.0	.	168;168	A2A274;Q99798	.;ACON_HUMAN	T	149;168;168	ENSP00000216254:P168T;ENSP00000379769:P168T	ENSP00000216254:P168T	P	+	1	0	ACO2	40237895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.666000	0.90696	0.561000	0.74099	CCT		PASS	0.512	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		15	45	15	45	---	---	---	---
TTLL1	25809	broad.mit.edu	37	22	43435822	43435822	+	Missense_Mutation	SNP	G	G	A	rs116153895		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:43435822G>A	ENST00000266254.7	-	11	1472	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.S382L	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	411					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.S411L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGAGTCTCTCGATCGGCCTGC	0.602																																						uc003bdi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1231-1233)TCG>TTG		tubulin tyrosine ligase-like family, member 1							61.0	62.0	62.0					22																	43435822		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43435822G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1232C>T	22.37:g.43435822G>A	ENSP00000266254:p.Ser411Leu					TTLL1_uc010gzh.2_Missense_Mutation_p.S382L|TTLL1_uc003bdj.2_Missense_Mutation_p.S297L|TTLL1_uc003bdh.2_Missense_Mutation_p.S373L	p.S411L	NM_012263	NP_036395	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	11	1473	-		Ovarian(80;0.0694)	411					B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.1232C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768437	0.31320	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.08720	3.06;3.06	5.57	-5.11	0.02901	.	1.069380	0.07202	N	0.857733	T	0.03053	0.0090	N	0.03608	-0.345	0.09310	N	1	B;B	0.15141	0.0;0.012	B;B	0.09377	0.001;0.004	T	0.46735	-0.9170	10	0.26408	T	0.33	.	6.8303	0.23907	0.3595:0.2863:0.3541:0.0	.	382;411	O95922-4;O95922	.;TTLL1_HUMAN	L	382;411	ENSP00000333734:S382L;ENSP00000266254:S411L	ENSP00000266254:S411L	S	-	2	0	TTLL1	41765766	0.022000	0.18835	0.000000	0.03702	0.058000	0.15608	1.709000	0.37909	-0.839000	0.04212	-0.233000	0.12211	TCG		PASS	0.602	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		21	203	21	203	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50664511	50664511	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr22:50664511T>C	ENST00000248846.5	-	9	1905	c.1801A>G	c.(1801-1803)Acc>Gcc	p.T601A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T601A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	601					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.T601A(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGTTAATGGTCTTTCCGCAG	0.582																																						uc003bkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1801-1803)ACC>GCC		tubulin, gamma complex associated protein 6							204.0	200.0	201.0					22																	50664511		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664511T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1801A>G	22.37:g.50664511T>C	ENSP00000248846:p.Thr601Ala					TUBGCP6_uc010har.1_Missense_Mutation_p.T601A|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	p.T601A	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	9	2313	-		all_cancers(38;5.79e-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)	601					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1801A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151376	0.78001	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07114	3.22;3.22	4.82	4.82	0.62117	.	0.422386	0.25984	N	0.027056	T	0.21427	0.0516	L	0.47716	1.5	0.52501	D	0.999952	D;D	0.76494	0.999;0.989	D;D	0.71870	0.975;0.915	T	0.00546	-1.1678	10	0.48119	T	0.1	.	14.3688	0.66826	0.0:0.0:0.0:1.0	.	601;601	B2RWN4;Q96RT7	.;GCP6_HUMAN	A	601	ENSP00000248846:T601A;ENSP00000397387:T601A	ENSP00000248846:T601A	T	-	1	0	TUBGCP6	49006638	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.905000	0.87416	1.812000	0.52913	0.379000	0.24179	ACC		PASS	0.582	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		98	202	98	202	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31838129	31838129	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:31838129C>A	ENST00000357033.4	-	50	7478	c.7272G>T	c.(7270-7272)caG>caT	p.Q2424H	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.Q2420H|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2424					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q2424H(1)|p.Q2419H(1)|p.Q2420H(1)|p.Q1083H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTAGGTCAGGCTGCTTTGCCC	0.438																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7270-7272)CAG>CAT		dystrophin Dp427m isoform							156.0	122.0	134.0					X																	31838129		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31838129C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7272G>T	X.37:g.31838129C>A	ENSP00000354923:p.Gln2424His					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q1080H|DMD_uc004dcx.2_Missense_Mutation_p.Q1083H|DMD_uc004dcz.2_Missense_Mutation_p.Q2301H|DMD_uc004dcy.1_Missense_Mutation_p.Q2420H|DMD_uc004ddb.1_Missense_Mutation_p.Q2416H|DMD_uc004ddd.1_Intron	p.Q2424H	NM_004006	NP_003997	P11532	DMD_HUMAN			50	7516	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2424					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7272G>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.567|9.567	1.120066|1.120066	0.20877|0.20877	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|T;T;T	.|0.61158	.|4.0;0.13;0.13	5.84|5.84	0.246|0.246	0.15516|0.15516	.|.	.|0.667727	.|0.11448	.|U	.|0.563089	T|T	0.37265|0.37265	0.0997|0.0997	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B	.|0.24963	.|0.115;0.07;0.07;0.07;0.07	.|B;B;B;B;B	.|0.34138	.|0.176;0.085;0.085;0.058;0.058	T|T	0.31503|0.31503	-0.9941|-0.9941	5|10	.|0.23891	.|T	.|0.37	.|.	1.5679|1.5679	0.02608|0.02608	0.1433:0.3999:0.1383:0.3186|0.1433:0.3999:0.1383:0.3186	.|.	.|2416;2424;2420;1083;1080	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.|.;DMD_HUMAN;.;.;.	S|H	153|2416;1083;1080;120;2420;2424;2424;2301	.|ENSP00000350765:Q120H;ENSP00000367948:Q2420H;ENSP00000354923:Q2424H	.|ENSP00000354923:Q2424H	A|Q	-|-	1|3	0|2	DMD|DMD	31748050|31748050	0.005000|0.005000	0.15991|0.15991	0.084000|0.084000	0.20598|0.20598	0.945000|0.945000	0.59286|0.59286	-0.320000|-0.320000	0.08028|0.08028	-0.023000|-0.023000	0.13963|0.13963	-0.224000|-0.224000	0.12420|0.12420	GCC|CAG		PASS	0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		25	34	25	34	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36116911	36116911	+	Splice_Site	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:36116911G>T	ENST00000313548.4	+	6	829	c.643G>T	c.(643-645)Gct>Tct	p.A215S		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	215						integral component of membrane (GO:0016021)		p.A215S(1)									TAATTTTAGTGCTCAAGGAGG	0.264																																						uc004ddk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(643-645)GCT>TCT		hypothetical protein LOC286464							30.0	27.0	28.0					X																	36116911		2197	4289	6486	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36116911G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.642-1G>T	X.37:g.36116911G>T							p.A215S	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			6	829	+			215						Missense_Mutation	SNP	ENST00000313548.4	37	c.643G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	g	4.377	0.069553	0.08436	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.28	-4.58	0.03410	.	1.440100	0.04689	N	0.413782	T	0.19805	0.0476	N	0.11255	0.115	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30794	-0.9966	9	0.07644	T	0.81	-0.417	8.9624	0.35856	0.6307:0.1086:0.2608:0.0	.	215	Q8N9S7	CX059_HUMAN	S	215	.	ENSP00000324767:A215S	A	+	1	0	CXorf59	36026832	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.193000	0.09573	-1.209000	0.02631	-0.974000	0.02594	GCT		PASS	0.264	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Missense_Mutation	16	9	16	9	---	---	---	---
PAGE2B	389860	broad.mit.edu	37	X	55103864	55103864	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:55103864G>T	ENST00000374971.1	+	4	278	c.226G>T	c.(226-228)Gct>Tct	p.A76S	PAGE2B_ENST00000374974.3_Missense_Mutation_p.A59S	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	76								p.A76S(1)		lung(3)	3						ACAGGAACTGGCTCTGCTTAA	0.403																																						uc004due.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GCT>TCT		P antigen family, member 2B							101.0	84.0	90.0					X																	55103864		2202	4297	6499	SO:0001583	missense	389860							g.chrX:55103864G>T		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.226G>T	X.37:g.55103864G>T	ENSP00000364110:p.Ala76Ser						p.A76S	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN			4	278	+			76					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.226G>T	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	-	9.113	1.006934	0.19199	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.09445	2.98;2.98	1.09	-1.15	0.09709	.	.	.	.	.	T	0.13286	0.0322	L	0.33792	1.035	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.12760	-1.0535	9	0.06365	T	0.9	.	4.1266	0.10129	0.4891:0.0:0.5109:0.0	.	76	Q5JRK9	GGEE3_HUMAN	S	59;76;59	ENSP00000364113:A59S;ENSP00000364110:A76S	ENSP00000364110:A76S	A	+	1	0	PAGE2B	55120589	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.457000	0.02374	-0.534000	0.06315	0.287000	0.19450	GCT		PASS	0.403	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		85	29	85	29	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650397	75650397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:75650397G>T	ENST00000361470.2	+	1	2352	c.2074G>T	c.(2074-2076)Gaa>Taa	p.E692*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	692						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E692*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGAAGCTCTGGAAGAAGATGC	0.473																																						uc004ecm.1																			2	Substitution - Nonsense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2074-2076)GAA>TAA		melanoma antigen family E, 1							38.0	32.0	34.0					X																	75650397		2203	4300	6503	SO:0001587	stop_gained	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650397G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2074G>T	X.37:g.75650397G>T	ENSP00000354912:p.Glu692*						p.E692*	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2281	+			692					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	c.2074G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.081827	0.76528	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.35	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	6.2727	0.20963	0.0:0.3088:0.6912:0.0	.	.	.	.	X	692	.	ENSP00000354912:E692X	E	+	1	0	MAGEE1	75566801	0.995000	0.38212	0.009000	0.14445	0.005000	0.04900	1.216000	0.32443	0.400000	0.25396	-0.217000	0.12591	GAA		PASS	0.473	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		12	10	12	10	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:91132563G>C	ENST00000373094.1	+	2	2169	c.1324G>C	c.(1324-1326)Ggc>Cgc	p.G442R	PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G442R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			9	Substitution - Missense(9)		lung(9)	large_intestine(2)	2						c.(1324-1326)GGC>CGC		protocadherin 11 X-linked isoform c							47.0	45.0	45.0					X																	91132563		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132563G>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1324G>C	X.37:g.91132563G>C	ENSP00000362186:p.Gly442Arg					PCDH11X_uc004efl.1_Missense_Mutation_p.G442R|PCDH11X_uc004efo.1_Missense_Mutation_p.G442R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G442R|PCDH11X_uc004efm.1_Missense_Mutation_p.G442R|PCDH11X_uc004efn.1_Missense_Mutation_p.G442R|PCDH11X_uc004efh.1_Missense_Mutation_p.G442R|PCDH11X_uc004efj.1_Missense_Mutation_p.G442R	p.G442R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2169	+			442			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1324G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063725	0.55432	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	H	0.97659	4.05	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D	0.91719	0.5387	10	0.87932	D	0	.	16.5733	0.84630	0.0:0.0:1.0:0.0	.	442;442;442;442;442;442;442;442	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	442	ENSP00000378746:G442R;ENSP00000362186:G442R;ENSP00000362189:G442R;ENSP00000355040:G442R;ENSP00000362180:G442R;ENSP00000423762:G442R;ENSP00000355105:G442R;ENSP00000384758:G442R;ENSP00000298274:G442R	ENSP00000298274:G442R	G	+	1	0	PCDH11X	91019219	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.507000	0.97996	2.115000	0.64714	0.544000	0.68410	GGC		PASS	0.408	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		44	28	44	28	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686402	125686402	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:125686402C>A	ENST00000371126.1	-	1	432	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	64								p.G64C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGCGGGGCCCCACCCGCCT	0.697																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(190-192)GGC>TGC		DDB1 and CUL4 associated factor 12-like 1							33.0	39.0	37.0					X																	125686402		2200	4289	6489	SO:0001583	missense	139170							g.chrX:125686402C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.190G>T	X.37:g.125686402C>A	ENSP00000360167:p.Gly64Cys						p.G64C	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	441	-			64					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.190G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003224	0.35320	.	.	ENSG00000198889	ENST00000371126	T	0.18657	2.2	3.6	-0.384	0.12474	.	.	.	.	.	T	0.34483	0.0899	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.15809	-1.0424	9	0.66056	D	0.02	.	7.6485	0.28334	0.0:0.3569:0.0:0.6431	.	64	Q5VU92	DC121_HUMAN	C	64	ENSP00000360167:G64C	ENSP00000360167:G64C	G	-	1	0	DCAF12L1	125514083	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	1.091000	0.30915	-0.241000	0.09681	0.506000	0.49869	GGC		PASS	0.697	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		35	23	35	23	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128887225	128887225	+	Splice_Site	SNP	G	G	A			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:128887225G>A	ENST00000371106.3	+	11	1299		c.e11+1			NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.?(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCCAGCCACGTAAGTCCACG	0.532																																						uc004eut.1																			1	Unknown(1)		lung(1)		0						c.e11+1		X-prolyl aminopeptidase 2, membrane-bound							137.0	105.0	116.0					X																	128887225		2203	4299	6502	SO:0001630	splice_region_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887225G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1107+1G>A	X.37:g.128887225G>A							p.H369_splice	NM_003399	NP_003390	O43895	XPP2_HUMAN			11	1351	+								A0AV16|O75994	Splice_Site	SNP	ENST00000371106.3	37	c.1107_splice	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.489049	0.84962	.	.	ENSG00000122121	ENST00000371106	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7574	0.85503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPNPEP2	128714906	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	7.858000	0.86971	2.215000	0.71742	0.597000	0.82753	.		PASS	0.532	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	Intron	66	29	66	29	---	---	---	---
BRCC3	79184	broad.mit.edu	37	X	154299830	154299830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:154299830C>T	ENST00000369462.1	+	1	53	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	MTCP1_ENST00000362018.2_Intron|CMC4_ENST00000369484.3_5'Flank|MTCP1_ENST00000369476.3_5'Flank|MTCP1_ENST00000482244.1_5'Flank|BRCC3_ENST00000330045.7_Nonsense_Mutation_p.Q10*|BRCC3_ENST00000340647.4_Nonsense_Mutation_p.Q10*|BRCC3_ENST00000369459.2_Nonsense_Mutation_p.Q10*|BRCC3_ENST00000399042.1_Nonsense_Mutation_p.Q10*	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	10	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q10*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcaggcggtgcaggcggtTCA	0.632																																						uc004fna.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)|large_intestine(1)|breast(1)	6						c.(28-30)CAG>TAG		BRCA1/BRCA2-containing complex, subunit 3							37.0	57.0	51.0					X																	154299830		2122	4194	6316	SO:0001587	stop_gained	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154299830C>T	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.28C>T	X.37:g.154299830C>T	ENSP00000358474:p.Gln10*					MTCP1NB_uc004fmy.2_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzy.1_Nonsense_Mutation_p.Q10*|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Nonsense_Mutation_p.Q10*	p.Q10*	NM_024332	NP_077308	P46736	BRCC3_HUMAN			1	121	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		10					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Nonsense_Mutation	SNP	ENST00000369462.1	37	c.28C>T	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613092	0.96637	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	.	.	.	2.99	2.99	0.34606	.	0.253183	0.35378	N	0.003244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-1.2071	8.5998	0.33738	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000328641:Q10X	Q	+	1	0	BRCC3	153953024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.081000	0.50120	1.753000	0.51906	0.513000	0.50165	CAG		PASS	0.632	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		6	2	6	2	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220379559	220379559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr2:220379559delC	ENST00000347842.3	+	1	508	c.494delC	c.(493-495)gccfs	p.A165fs	ASIC4_ENST00000358078.4_Frame_Shift_Del_p.A165fs|AC053503.11_ENST00000429882.1_RNA	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	165					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCTGGAGCAGCCCCCCGAGAC	0.642																																						uc002vma.2																			0				ovary(2)	2						c.(493-495)GCCfs		amiloride-sensitive cation channel 4 isoform 2							32.0	38.0	36.0					2																	220379559		2203	4299	6502	SO:0001589	frameshift_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379559delC	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.494delC	2.37:g.220379559delC	ENSP00000326627:p.Ala165fs					ACCN4_uc010fwi.1_Frame_Shift_Del_p.A165fs|ACCN4_uc010fwj.1_Frame_Shift_Del_p.A165fs|ACCN4_uc002vly.1_Frame_Shift_Del_p.A165fs|ACCN4_uc002vlz.2_Frame_Shift_Del_p.A165fs|ACCN4_uc002vmb.2_5'Flank	p.A165fs	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	1	508	+		Renal(207;0.0183)	165			Cytoplasmic (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Frame_Shift_Del	DEL	ENST00000347842.3	37	c.494delC	CCDS2442.1																																																																																					0.642	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		53	29	53	29	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868034	23868035	+	Frame_Shift_Ins	INS	-	-	T			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr14:23868034_23868035insT	ENST00000356287.3	-	14	1822_1823	c.1793_1794insA	c.(1792-1794)aacfs	p.N598fs	MYH6_ENST00000405093.3_Frame_Shift_Ins_p.N598fs			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	598	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAGGATCCTTGTTTTTTTCCAG	0.55																																						uc001wjv.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(1792-1794)AACfs		myosin heavy chain 6																																				SO:0001589	frameshift_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868034_23868035insT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1794dupA	14.37:g.23868041_23868041dupT	ENSP00000348634:p.Asn598fs						p.N598fs	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1860_1861	-	all_cancers(95;2.54e-05)		598			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Frame_Shift_Ins	INS	ENST00000356287.3	37	c.1793_1794insA	CCDS9600.1																																																																																					0.550	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			88	42	88	42	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682268	85682268	+	Frame_Shift_Del	DEL	G	G	-	rs544831892		TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chr16:85682268delG	ENST00000253458.7	+	3	513	c.337delG	c.(337-339)gggfs	p.G114fs	GSE1_ENST00000393243.1_Frame_Shift_Del_p.G41fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.G10fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	114																	CGTCCCCCCTGGGGGCCACAG	0.687																																						uc002fix.2																			0				large_intestine(3)|ovary(1)|skin(1)	5						c.(337-339)GGGfs		genetic suppressor element 1 isoform 1							67.0	70.0	69.0					16																	85682268		2198	4298	6496	SO:0001589	frameshift_variant	23199						protein binding	g.chr16:85682268delG	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.337delG	16.37:g.85682268delG	ENSP00000253458:p.Gly114fs					KIAA0182_uc002fiw.2_Frame_Shift_Del_p.G9fs|KIAA0182_uc002fiy.2_Frame_Shift_Del_p.G40fs	p.G113fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN			3	411	+			113					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.337delG	CCDS10952.1																																																																																					0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		105	83	105	83	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994683	140994683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-63-5131-01A-01D-1441-08	TCGA-63-5131-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b290a86e-22da-4f10-a421-2616bb47bc1b	4000af7a-04bd-4522-9c7d-fd45d63aa81c	g.chrX:140994683delC	ENST00000285879.4	+	4	1779	c.1493delC	c.(1492-1494)tccfs	p.S498fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	498										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGTGT	0.498										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1492-1494)TCCfs		melanoma antigen family C, 1							117.0	128.0	125.0					X																	140994683		2203	4300	6503	SO:0001589	frameshift_variant	9947						protein binding	g.chrX:140994683delC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1493delC	X.37:g.140994683delC	ENSP00000285879:p.Ser498fs	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S498fs	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1779	+	Acute lymphoblastic leukemia(192;6.56e-05)		498					A0PK03|O75451|Q8TCV4	Frame_Shift_Del	DEL	ENST00000285879.4	37	c.1493delC	CCDS35417.1																																																																																					0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		64	140	64	140	---	---	---	---
